Incidental Mutation 'R4737:Pcdhac2'
ID |
359380 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhac2
|
Ensembl Gene |
ENSMUSG00000102697 |
Gene Name |
protocadherin alpha subfamily C, 2 |
Synonyms |
CNRc2 |
MMRRC Submission |
042024-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4737 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37276731-37320716 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 37278952 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 644
(T644I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039888
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007584]
[ENSMUST00000047479]
[ENSMUST00000047614]
[ENSMUST00000070797]
[ENSMUST00000115657]
[ENSMUST00000115658]
[ENSMUST00000115659]
[ENSMUST00000194038]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000193389]
[ENSMUST00000192631]
[ENSMUST00000192295]
[ENSMUST00000193839]
[ENSMUST00000192512]
[ENSMUST00000193777]
[ENSMUST00000115661]
[ENSMUST00000192447]
[ENSMUST00000192503]
[ENSMUST00000194544]
[ENSMUST00000194751]
[ENSMUST00000195590]
|
AlphaFold |
Q91Y09 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000007584
|
SMART Domains |
Protein: ENSMUSP00000007584 Gene: ENSMUSG00000103255
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
CA
|
45 |
122 |
3.59e-1 |
SMART |
CA
|
146 |
231 |
6.32e-22 |
SMART |
CA
|
255 |
338 |
5.18e-18 |
SMART |
CA
|
362 |
443 |
9.73e-23 |
SMART |
CA
|
467 |
554 |
4.24e-23 |
SMART |
CA
|
584 |
662 |
1.11e-8 |
SMART |
Pfam:Cadherin_C_2
|
682 |
773 |
1.1e-12 |
PFAM |
Pfam:Cadherin_tail
|
813 |
947 |
5.4e-58 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047479
AA Change: T644I
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000039888 Gene: ENSMUSG00000102697 AA Change: T644I
Domain | Start | End | E-Value | Type |
CA
|
30 |
145 |
9.8e-3 |
SMART |
CA
|
169 |
254 |
2.07e-17 |
SMART |
CA
|
278 |
362 |
2.86e-29 |
SMART |
CA
|
386 |
466 |
4.79e-22 |
SMART |
CA
|
490 |
576 |
1.44e-25 |
SMART |
CA
|
606 |
687 |
3.45e-14 |
SMART |
Pfam:Cadherin_C_2
|
702 |
809 |
1.2e-26 |
PFAM |
low complexity region
|
810 |
823 |
N/A |
INTRINSIC |
Pfam:Cadherin_tail
|
855 |
989 |
5.8e-58 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000047614
|
SMART Domains |
Protein: ENSMUSP00000047609 Gene: ENSMUSG00000103310
Domain | Start | End | E-Value | Type |
CA
|
19 |
131 |
3.78e-2 |
SMART |
CA
|
155 |
240 |
3.26e-24 |
SMART |
CA
|
264 |
348 |
6.37e-27 |
SMART |
CA
|
372 |
453 |
3.31e-25 |
SMART |
CA
|
477 |
563 |
6.18e-25 |
SMART |
CA
|
594 |
676 |
5.6e-14 |
SMART |
low complexity region
|
679 |
696 |
N/A |
INTRINSIC |
transmembrane domain
|
699 |
721 |
N/A |
INTRINSIC |
Pfam:Cadherin_tail
|
799 |
933 |
5.3e-58 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000070797
|
SMART Domains |
Protein: ENSMUSP00000068828 Gene: ENSMUSG00000103442
Domain | Start | End | E-Value | Type |
CA
|
22 |
132 |
3.09e-2 |
SMART |
CA
|
156 |
241 |
6.14e-20 |
SMART |
CA
|
265 |
349 |
3.92e-27 |
SMART |
CA
|
373 |
454 |
4.94e-24 |
SMART |
CA
|
478 |
564 |
1e-24 |
SMART |
CA
|
592 |
672 |
4.55e-14 |
SMART |
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
Pfam:Cadherin_tail
|
797 |
931 |
5.3e-58 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115657
|
SMART Domains |
Protein: ENSMUSP00000111321 Gene: ENSMUSG00000102206
Domain | Start | End | E-Value | Type |
CA
|
21 |
131 |
2.95e-2 |
SMART |
CA
|
155 |
240 |
7.44e-19 |
SMART |
CA
|
264 |
347 |
5.63e-28 |
SMART |
CA
|
371 |
452 |
3.14e-26 |
SMART |
CA
|
476 |
562 |
1.42e-24 |
SMART |
CA
|
593 |
675 |
1.03e-12 |
SMART |
transmembrane domain
|
697 |
719 |
N/A |
INTRINSIC |
low complexity region
|
783 |
794 |
N/A |
INTRINSIC |
low complexity region
|
918 |
942 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115658
|
SMART Domains |
Protein: ENSMUSP00000111322 Gene: ENSMUSG00000007440
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
21 |
N/A |
INTRINSIC |
CA
|
46 |
132 |
6.34e-2 |
SMART |
CA
|
156 |
241 |
4.65e-20 |
SMART |
CA
|
265 |
349 |
1.25e-25 |
SMART |
CA
|
373 |
454 |
9.22e-24 |
SMART |
CA
|
478 |
564 |
4.3e-24 |
SMART |
CA
|
595 |
678 |
5.07e-12 |
SMART |
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
Pfam:Cadherin_tail
|
795 |
929 |
5.3e-58 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115659
|
SMART Domains |
Protein: ENSMUSP00000111323 Gene: ENSMUSG00000103770
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
51 |
N/A |
INTRINSIC |
CA
|
75 |
161 |
2.46e-2 |
SMART |
CA
|
185 |
270 |
8.1e-20 |
SMART |
CA
|
294 |
378 |
1.69e-22 |
SMART |
CA
|
402 |
483 |
1.52e-24 |
SMART |
CA
|
507 |
593 |
5.68e-24 |
SMART |
CA
|
624 |
705 |
6.69e-12 |
SMART |
transmembrane domain
|
727 |
749 |
N/A |
INTRINSIC |
Pfam:Cadherin_tail
|
828 |
962 |
5.6e-58 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194038
|
SMART Domains |
Protein: ENSMUSP00000142159 Gene: ENSMUSG00000103800
Domain | Start | End | E-Value | Type |
CA
|
20 |
131 |
6.34e-2 |
SMART |
CA
|
155 |
240 |
4.27e-19 |
SMART |
CA
|
264 |
348 |
2.04e-25 |
SMART |
CA
|
372 |
453 |
2.84e-24 |
SMART |
CA
|
477 |
563 |
9.88e-24 |
SMART |
CA
|
594 |
676 |
8.62e-15 |
SMART |
transmembrane domain
|
699 |
721 |
N/A |
INTRINSIC |
low complexity region
|
914 |
938 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115662
|
SMART Domains |
Protein: ENSMUSP00000111326 Gene: ENSMUSG00000104148
Domain | Start | End | E-Value | Type |
CA
|
45 |
131 |
6.34e-2 |
SMART |
CA
|
155 |
240 |
2.98e-18 |
SMART |
CA
|
264 |
348 |
2.17e-29 |
SMART |
CA
|
372 |
453 |
2.84e-24 |
SMART |
CA
|
477 |
563 |
5.02e-25 |
SMART |
CA
|
594 |
675 |
8.16e-16 |
SMART |
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
low complexity region
|
916 |
940 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192168
|
SMART Domains |
Protein: ENSMUSP00000142293 Gene: ENSMUSG00000103092
Domain | Start | End | E-Value | Type |
CA
|
21 |
131 |
2.2e-2 |
SMART |
CA
|
155 |
240 |
2.05e-21 |
SMART |
CA
|
264 |
348 |
8.81e-21 |
SMART |
CA
|
372 |
453 |
2.01e-24 |
SMART |
CA
|
477 |
563 |
1.42e-24 |
SMART |
CA
|
591 |
673 |
1.63e-15 |
SMART |
transmembrane domain
|
693 |
715 |
N/A |
INTRINSIC |
low complexity region
|
902 |
926 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193389
|
SMART Domains |
Protein: ENSMUSP00000141459 Gene: ENSMUSG00000103707
Domain | Start | End | E-Value | Type |
CA
|
21 |
131 |
5.67e-2 |
SMART |
CA
|
155 |
240 |
4.72e-21 |
SMART |
CA
|
264 |
348 |
1.9e-25 |
SMART |
CA
|
372 |
453 |
3.31e-25 |
SMART |
CA
|
477 |
563 |
1.42e-24 |
SMART |
CA
|
594 |
676 |
5.91e-13 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192631
|
SMART Domains |
Protein: ENSMUSP00000142156 Gene: ENSMUSG00000104318
Domain | Start | End | E-Value | Type |
CA
|
21 |
131 |
2.58e-2 |
SMART |
CA
|
155 |
240 |
4.27e-19 |
SMART |
CA
|
264 |
348 |
1.42e-24 |
SMART |
CA
|
372 |
453 |
9.36e-25 |
SMART |
CA
|
477 |
563 |
1.42e-24 |
SMART |
CA
|
594 |
671 |
4.03e-6 |
SMART |
transmembrane domain
|
696 |
718 |
N/A |
INTRINSIC |
low complexity region
|
905 |
929 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192295
|
SMART Domains |
Protein: ENSMUSP00000142103 Gene: ENSMUSG00000104252
Domain | Start | End | E-Value | Type |
CA
|
20 |
131 |
5.3e-2 |
SMART |
CA
|
155 |
240 |
1.51e-19 |
SMART |
CA
|
264 |
348 |
7.6e-25 |
SMART |
CA
|
372 |
453 |
1.42e-24 |
SMART |
CA
|
477 |
568 |
5.38e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193856
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193839
|
SMART Domains |
Protein: ENSMUSP00000142308 Gene: ENSMUSG00000103442
Domain | Start | End | E-Value | Type |
CA
|
22 |
132 |
3.09e-2 |
SMART |
CA
|
156 |
241 |
6.14e-20 |
SMART |
CA
|
265 |
349 |
3.92e-27 |
SMART |
CA
|
373 |
454 |
4.94e-24 |
SMART |
CA
|
478 |
564 |
1e-24 |
SMART |
CA
|
592 |
672 |
4.55e-14 |
SMART |
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192512
|
SMART Domains |
Protein: ENSMUSP00000141408 Gene: ENSMUSG00000104252
Domain | Start | End | E-Value | Type |
CA
|
20 |
131 |
5.3e-2 |
SMART |
CA
|
155 |
240 |
1.51e-19 |
SMART |
CA
|
264 |
348 |
7.6e-25 |
SMART |
CA
|
372 |
453 |
1.42e-24 |
SMART |
CA
|
477 |
563 |
1.42e-24 |
SMART |
CA
|
594 |
674 |
4.12e-12 |
SMART |
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
low complexity region
|
915 |
939 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193777
|
SMART Domains |
Protein: ENSMUSP00000141587 Gene: ENSMUSG00000103707
Domain | Start | End | E-Value | Type |
CA
|
21 |
131 |
5.67e-2 |
SMART |
CA
|
155 |
240 |
4.72e-21 |
SMART |
CA
|
264 |
348 |
1.9e-25 |
SMART |
CA
|
372 |
453 |
3.31e-25 |
SMART |
CA
|
477 |
563 |
1.42e-24 |
SMART |
CA
|
594 |
676 |
5.91e-13 |
SMART |
low complexity region
|
914 |
938 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115661
|
SMART Domains |
Protein: ENSMUSP00000111325 Gene: ENSMUSG00000103458
Domain | Start | End | E-Value | Type |
CA
|
20 |
131 |
5.3e-2 |
SMART |
CA
|
155 |
240 |
1.51e-19 |
SMART |
CA
|
264 |
348 |
7.6e-25 |
SMART |
CA
|
372 |
453 |
1.42e-24 |
SMART |
CA
|
477 |
563 |
1.42e-24 |
SMART |
CA
|
594 |
674 |
4.12e-12 |
SMART |
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
Pfam:Cadherin_tail
|
796 |
930 |
3.9e-58 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192447
|
SMART Domains |
Protein: ENSMUSP00000142270 Gene: ENSMUSG00000102206
Domain | Start | End | E-Value | Type |
CA
|
21 |
131 |
1.5e-4 |
SMART |
CA
|
155 |
240 |
3.6e-21 |
SMART |
CA
|
264 |
347 |
2.8e-30 |
SMART |
CA
|
371 |
452 |
1.5e-28 |
SMART |
CA
|
476 |
562 |
6.8e-27 |
SMART |
CA
|
593 |
675 |
4.9e-15 |
SMART |
transmembrane domain
|
697 |
719 |
N/A |
INTRINSIC |
low complexity region
|
783 |
794 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192503
|
SMART Domains |
Protein: ENSMUSP00000141989 Gene: ENSMUSG00000102312
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
17 |
N/A |
INTRINSIC |
CA
|
42 |
128 |
3.78e-2 |
SMART |
CA
|
152 |
237 |
8.94e-22 |
SMART |
CA
|
261 |
345 |
3.74e-24 |
SMART |
CA
|
369 |
450 |
1.09e-25 |
SMART |
CA
|
474 |
560 |
1.42e-24 |
SMART |
CA
|
588 |
670 |
2.96e-13 |
SMART |
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
low complexity region
|
910 |
934 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194691
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194544
|
SMART Domains |
Protein: ENSMUSP00000141847 Gene: ENSMUSG00000102836
Domain | Start | End | E-Value | Type |
Blast:CA
|
18 |
66 |
5e-20 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194751
|
SMART Domains |
Protein: ENSMUSP00000142285 Gene: ENSMUSG00000103707
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
21 |
N/A |
INTRINSIC |
Pfam:Cadherin_2
|
29 |
112 |
4.5e-32 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195590
|
SMART Domains |
Protein: ENSMUSP00000141355 Gene: ENSMUSG00000104148
Domain | Start | End | E-Value | Type |
CA
|
45 |
131 |
6.34e-2 |
SMART |
CA
|
155 |
240 |
2.98e-18 |
SMART |
CA
|
264 |
348 |
2.17e-29 |
SMART |
CA
|
372 |
453 |
2.84e-24 |
SMART |
CA
|
477 |
563 |
5.02e-25 |
SMART |
CA
|
594 |
675 |
8.16e-16 |
SMART |
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.2119 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
Validation Efficiency |
100% (94/94) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a reporter allele are viable and fertile with no apparent gross phenotype. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430110L20Rik |
A |
G |
1: 181,055,384 (GRCm39) |
|
noncoding transcript |
Het |
Acp2 |
A |
T |
2: 91,041,068 (GRCm39) |
R419W |
probably benign |
Het |
Actr5 |
A |
G |
2: 158,469,991 (GRCm39) |
N207S |
probably damaging |
Het |
Afap1 |
G |
A |
5: 36,119,126 (GRCm39) |
V254M |
probably benign |
Het |
Arfgef1 |
A |
T |
1: 10,259,836 (GRCm39) |
M544K |
possibly damaging |
Het |
Arhgap5 |
A |
T |
12: 52,565,860 (GRCm39) |
M944L |
probably benign |
Het |
Bnip3l-ps |
G |
A |
12: 18,266,773 (GRCm39) |
|
noncoding transcript |
Het |
Carf |
A |
G |
1: 60,148,477 (GRCm39) |
T58A |
probably benign |
Het |
Carns1 |
A |
G |
19: 4,220,927 (GRCm39) |
|
probably benign |
Het |
Ccp110 |
T |
A |
7: 118,323,771 (GRCm39) |
I670K |
possibly damaging |
Het |
Cftr |
T |
A |
6: 18,299,882 (GRCm39) |
D1218E |
probably benign |
Het |
Chrna9 |
A |
T |
5: 66,125,214 (GRCm39) |
T52S |
probably damaging |
Het |
Chst9 |
T |
C |
18: 15,585,834 (GRCm39) |
Y243C |
probably damaging |
Het |
Ciao3 |
A |
T |
17: 26,000,283 (GRCm39) |
H322L |
probably damaging |
Het |
Cilk1 |
A |
G |
9: 78,057,936 (GRCm39) |
T162A |
probably damaging |
Het |
Clk2 |
A |
T |
3: 89,076,016 (GRCm39) |
H62L |
probably benign |
Het |
Cntnap2 |
A |
T |
6: 45,037,251 (GRCm39) |
R10W |
possibly damaging |
Het |
Cpt1b |
C |
T |
15: 89,305,609 (GRCm39) |
D369N |
probably benign |
Het |
Crhr2 |
G |
T |
6: 55,068,290 (GRCm39) |
H423Q |
probably damaging |
Het |
D8Ertd738e |
T |
A |
8: 84,976,150 (GRCm39) |
I33F |
probably damaging |
Het |
Dbt |
T |
C |
3: 116,332,781 (GRCm39) |
I200T |
probably damaging |
Het |
Ddhd1 |
A |
T |
14: 45,866,278 (GRCm39) |
|
probably benign |
Het |
Ddx27 |
A |
G |
2: 166,871,219 (GRCm39) |
I480V |
probably benign |
Het |
Dpp9 |
A |
C |
17: 56,505,970 (GRCm39) |
|
probably null |
Het |
Dpy19l3 |
A |
T |
7: 35,402,926 (GRCm39) |
M562K |
probably damaging |
Het |
Dus3l |
T |
C |
17: 57,074,868 (GRCm39) |
L330P |
probably damaging |
Het |
Efcab7 |
C |
T |
4: 99,719,805 (GRCm39) |
Q96* |
probably null |
Het |
Egfr |
T |
C |
11: 16,819,231 (GRCm39) |
F254L |
probably damaging |
Het |
Eml5 |
C |
T |
12: 98,765,111 (GRCm39) |
V1566M |
probably damaging |
Het |
Entpd7 |
T |
A |
19: 43,679,634 (GRCm39) |
Y62* |
probably null |
Het |
Erbb4 |
T |
C |
1: 68,383,059 (GRCm39) |
M313V |
probably damaging |
Het |
Gm5528 |
A |
G |
1: 72,043,711 (GRCm39) |
|
noncoding transcript |
Het |
H2-M9 |
G |
T |
17: 36,951,631 (GRCm39) |
Y281* |
probably null |
Het |
Hmcn1 |
T |
G |
1: 150,565,346 (GRCm39) |
K2260N |
possibly damaging |
Het |
Hnf4a |
A |
G |
2: 163,406,139 (GRCm39) |
I259V |
probably benign |
Het |
Insm1 |
A |
T |
2: 146,064,822 (GRCm39) |
T213S |
probably benign |
Het |
Iqca1 |
T |
C |
1: 90,005,544 (GRCm39) |
D488G |
probably damaging |
Het |
Kdm5a |
T |
A |
6: 120,382,976 (GRCm39) |
|
probably benign |
Het |
Kdm7a |
G |
C |
6: 39,129,773 (GRCm39) |
L468V |
possibly damaging |
Het |
Lck |
G |
A |
4: 129,449,777 (GRCm39) |
T229I |
possibly damaging |
Het |
Lig3 |
T |
C |
11: 82,678,553 (GRCm39) |
L265P |
probably damaging |
Het |
Lipa |
T |
A |
19: 34,479,034 (GRCm39) |
K229* |
probably null |
Het |
Lrrk1 |
C |
T |
7: 65,956,621 (GRCm39) |
S418N |
probably benign |
Het |
Mark2 |
A |
G |
19: 7,258,597 (GRCm39) |
V126A |
probably damaging |
Het |
Met |
T |
C |
6: 17,491,540 (GRCm39) |
C101R |
probably damaging |
Het |
Mkln1 |
A |
T |
6: 31,403,734 (GRCm39) |
K85M |
probably damaging |
Het |
Mst1 |
A |
G |
9: 107,957,720 (GRCm39) |
R15G |
probably benign |
Het |
Muc6 |
T |
G |
7: 141,226,426 (GRCm39) |
|
probably benign |
Het |
Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
Myo7b |
T |
C |
18: 32,131,655 (GRCm39) |
S514G |
probably damaging |
Het |
Nars1 |
T |
C |
18: 64,649,498 (GRCm39) |
E11G |
probably benign |
Het |
Ogdh |
T |
A |
11: 6,247,044 (GRCm39) |
F23I |
probably benign |
Het |
Or10g9 |
A |
T |
9: 39,911,718 (GRCm39) |
D268E |
probably damaging |
Het |
Or12e9 |
T |
C |
2: 87,202,665 (GRCm39) |
I263T |
probably damaging |
Het |
Or4a39 |
C |
T |
2: 89,236,830 (GRCm39) |
V198I |
probably benign |
Het |
Or4b1b |
A |
G |
2: 90,112,725 (GRCm39) |
S65P |
probably damaging |
Het |
Or4c100 |
C |
T |
2: 88,356,569 (GRCm39) |
S214F |
probably damaging |
Het |
Or52r1c |
C |
T |
7: 102,735,121 (GRCm39) |
A127V |
probably damaging |
Het |
Or9k2 |
T |
A |
10: 129,998,707 (GRCm39) |
T163S |
probably benign |
Het |
Otub2 |
T |
A |
12: 103,359,103 (GRCm39) |
L64Q |
probably benign |
Het |
Pappa2 |
T |
C |
1: 158,784,582 (GRCm39) |
R143G |
probably benign |
Het |
Patl2 |
T |
A |
2: 121,955,787 (GRCm39) |
T250S |
probably damaging |
Het |
Pi4kb |
C |
T |
3: 94,911,649 (GRCm39) |
T690I |
probably damaging |
Het |
Pla2g4d |
T |
C |
2: 120,097,271 (GRCm39) |
Y776C |
probably benign |
Het |
Plekhh2 |
C |
T |
17: 84,871,387 (GRCm39) |
S215L |
probably benign |
Het |
Psmd2 |
T |
G |
16: 20,478,565 (GRCm39) |
|
probably benign |
Het |
Ptpn21 |
T |
C |
12: 98,675,103 (GRCm39) |
E183G |
probably benign |
Het |
Ptprg |
T |
A |
14: 12,226,314 (GRCm38) |
D527E |
probably damaging |
Het |
Rhobtb1 |
T |
A |
10: 69,115,327 (GRCm39) |
|
probably null |
Het |
Scel |
T |
A |
14: 103,809,473 (GRCm39) |
M271K |
possibly damaging |
Het |
Senp3 |
A |
T |
11: 69,569,655 (GRCm39) |
C310* |
probably null |
Het |
Slc25a3 |
T |
C |
10: 90,958,050 (GRCm39) |
T97A |
possibly damaging |
Het |
Srsf11 |
A |
T |
3: 157,732,369 (GRCm39) |
Y82* |
probably null |
Het |
Tbc1d8 |
G |
A |
1: 39,441,959 (GRCm39) |
T211I |
possibly damaging |
Het |
Tbkbp1 |
T |
C |
11: 97,039,474 (GRCm39) |
E145G |
probably damaging |
Het |
Tln1 |
T |
C |
4: 43,540,588 (GRCm39) |
N1471S |
probably benign |
Het |
Tnn |
T |
G |
1: 159,973,659 (GRCm39) |
D236A |
probably damaging |
Het |
Trmt2a |
C |
T |
16: 18,069,150 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ubxn10 |
G |
A |
4: 138,463,259 (GRCm39) |
|
probably benign |
Het |
Ulk4 |
G |
A |
9: 120,902,938 (GRCm39) |
Q1180* |
probably null |
Het |
Usp43 |
T |
A |
11: 67,746,331 (GRCm39) |
K1120N |
probably damaging |
Het |
Uspl1 |
T |
A |
5: 149,131,149 (GRCm39) |
L244Q |
possibly damaging |
Het |
Vmn1r32 |
T |
C |
6: 66,530,629 (GRCm39) |
H49R |
probably damaging |
Het |
Vmn2r4 |
T |
C |
3: 64,317,384 (GRCm39) |
D118G |
probably damaging |
Het |
Vwce |
A |
G |
19: 10,627,943 (GRCm39) |
I468V |
probably benign |
Het |
Zbtb7c |
G |
T |
18: 76,279,225 (GRCm39) |
R561L |
probably benign |
Het |
Zfp956 |
T |
C |
6: 47,939,476 (GRCm39) |
S175P |
probably damaging |
Het |
|
Other mutations in Pcdhac2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00094:Pcdhac2
|
APN |
18 |
37,278,128 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01400:Pcdhac2
|
APN |
18 |
37,279,339 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL02302:Pcdhac2
|
APN |
18 |
37,279,006 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02381:Pcdhac2
|
APN |
18 |
37,277,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02644:Pcdhac2
|
APN |
18 |
37,278,232 (GRCm39) |
missense |
probably benign |
|
IGL02645:Pcdhac2
|
APN |
18 |
37,278,292 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03087:Pcdhac2
|
APN |
18 |
37,278,735 (GRCm39) |
missense |
probably damaging |
1.00 |
R0004:Pcdhac2
|
UTSW |
18 |
37,278,290 (GRCm39) |
missense |
probably benign |
0.21 |
R0374:Pcdhac2
|
UTSW |
18 |
37,278,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R0540:Pcdhac2
|
UTSW |
18 |
37,278,942 (GRCm39) |
missense |
probably benign |
0.02 |
R0589:Pcdhac2
|
UTSW |
18 |
37,279,527 (GRCm39) |
missense |
probably benign |
|
R0607:Pcdhac2
|
UTSW |
18 |
37,278,942 (GRCm39) |
missense |
probably benign |
0.02 |
R1537:Pcdhac2
|
UTSW |
18 |
37,279,539 (GRCm39) |
missense |
possibly damaging |
0.51 |
R1545:Pcdhac2
|
UTSW |
18 |
37,279,186 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1878:Pcdhac2
|
UTSW |
18 |
37,278,215 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2139:Pcdhac2
|
UTSW |
18 |
37,279,139 (GRCm39) |
nonsense |
probably null |
|
R2197:Pcdhac2
|
UTSW |
18 |
37,279,185 (GRCm39) |
missense |
probably damaging |
0.99 |
R2680:Pcdhac2
|
UTSW |
18 |
37,278,639 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2882:Pcdhac2
|
UTSW |
18 |
37,278,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R3719:Pcdhac2
|
UTSW |
18 |
37,279,288 (GRCm39) |
missense |
possibly damaging |
0.59 |
R4256:Pcdhac2
|
UTSW |
18 |
37,277,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R4407:Pcdhac2
|
UTSW |
18 |
37,277,499 (GRCm39) |
missense |
probably benign |
0.00 |
R4426:Pcdhac2
|
UTSW |
18 |
37,277,796 (GRCm39) |
missense |
probably benign |
0.00 |
R4698:Pcdhac2
|
UTSW |
18 |
37,278,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R4950:Pcdhac2
|
UTSW |
18 |
37,278,283 (GRCm39) |
missense |
probably benign |
0.06 |
R4993:Pcdhac2
|
UTSW |
18 |
37,279,304 (GRCm39) |
missense |
probably damaging |
0.96 |
R5127:Pcdhac2
|
UTSW |
18 |
37,277,352 (GRCm39) |
nonsense |
probably null |
|
R5446:Pcdhac2
|
UTSW |
18 |
37,278,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R5598:Pcdhac2
|
UTSW |
18 |
37,277,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R5615:Pcdhac2
|
UTSW |
18 |
37,279,476 (GRCm39) |
missense |
probably benign |
0.22 |
R5615:Pcdhac2
|
UTSW |
18 |
37,279,477 (GRCm39) |
missense |
probably benign |
|
R5620:Pcdhac2
|
UTSW |
18 |
37,277,257 (GRCm39) |
missense |
probably benign |
|
R5661:Pcdhac2
|
UTSW |
18 |
37,278,499 (GRCm39) |
missense |
probably damaging |
0.97 |
R5760:Pcdhac2
|
UTSW |
18 |
37,279,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R6102:Pcdhac2
|
UTSW |
18 |
37,279,335 (GRCm39) |
nonsense |
probably null |
|
R6310:Pcdhac2
|
UTSW |
18 |
37,278,824 (GRCm39) |
nonsense |
probably null |
|
R6493:Pcdhac2
|
UTSW |
18 |
37,277,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R6695:Pcdhac2
|
UTSW |
18 |
37,278,256 (GRCm39) |
missense |
probably benign |
0.00 |
R6827:Pcdhac2
|
UTSW |
18 |
37,277,706 (GRCm39) |
missense |
probably benign |
0.03 |
R6953:Pcdhac2
|
UTSW |
18 |
37,277,479 (GRCm39) |
missense |
probably benign |
|
R7140:Pcdhac2
|
UTSW |
18 |
37,277,239 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7162:Pcdhac2
|
UTSW |
18 |
37,278,840 (GRCm39) |
missense |
probably benign |
0.13 |
R7242:Pcdhac2
|
UTSW |
18 |
37,277,946 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7325:Pcdhac2
|
UTSW |
18 |
37,278,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R7640:Pcdhac2
|
UTSW |
18 |
37,277,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R7654:Pcdhac2
|
UTSW |
18 |
37,278,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R7810:Pcdhac2
|
UTSW |
18 |
37,278,717 (GRCm39) |
missense |
probably benign |
0.18 |
R8072:Pcdhac2
|
UTSW |
18 |
37,278,717 (GRCm39) |
missense |
probably benign |
0.18 |
R8079:Pcdhac2
|
UTSW |
18 |
37,279,197 (GRCm39) |
missense |
probably damaging |
0.96 |
R8272:Pcdhac2
|
UTSW |
18 |
37,279,242 (GRCm39) |
missense |
probably benign |
0.30 |
R8489:Pcdhac2
|
UTSW |
18 |
37,278,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R8893:Pcdhac2
|
UTSW |
18 |
37,277,071 (GRCm39) |
missense |
probably benign |
|
R9035:Pcdhac2
|
UTSW |
18 |
37,277,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R9189:Pcdhac2
|
UTSW |
18 |
37,277,316 (GRCm39) |
missense |
probably benign |
0.00 |
R9262:Pcdhac2
|
UTSW |
18 |
37,279,095 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9626:Pcdhac2
|
UTSW |
18 |
37,279,555 (GRCm39) |
missense |
probably damaging |
0.99 |
R9688:Pcdhac2
|
UTSW |
18 |
37,277,628 (GRCm39) |
missense |
probably benign |
0.01 |
T0970:Pcdhac2
|
UTSW |
18 |
37,278,388 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGTGGTGGACGTGAATGACC -3'
(R):5'- TGATCTCAGAGTATGTCCGAGGAC -3'
Sequencing Primer
(F):5'- TCAACTAATACATCAGCAGCCATTG -3'
(R):5'- CCGAGGACTCTTTATATGTCTCTGAG -3'
|
Posted On |
2015-11-11 |