Incidental Mutation 'R2680:Pcdhac2'
ID |
250978 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhac2
|
Ensembl Gene |
ENSMUSG00000102697 |
Gene Name |
protocadherin alpha subfamily C, 2 |
Synonyms |
CNRc2 |
MMRRC Submission |
040433-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2680 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37143503-37187657 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37145586 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 540
(K540E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039888
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007584]
[ENSMUST00000047479]
[ENSMUST00000047614]
[ENSMUST00000070797]
[ENSMUST00000115657]
[ENSMUST00000115658]
[ENSMUST00000115659]
[ENSMUST00000115661]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000192295]
[ENSMUST00000192447]
[ENSMUST00000192512]
[ENSMUST00000193777]
[ENSMUST00000192631]
[ENSMUST00000194544]
[ENSMUST00000195590]
[ENSMUST00000193389]
[ENSMUST00000192503]
[ENSMUST00000194751]
[ENSMUST00000194038]
[ENSMUST00000193839]
|
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: K540E
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000039888 Gene: ENSMUSG00000102697 AA Change: K540E
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: 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: 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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000194691
|
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: 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: 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: 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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193856
|
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: ENSMUST00000193984
|
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 |
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: 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: 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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6430531B16Rik |
T |
C |
7: 139,978,561 |
D41G |
probably damaging |
Het |
BC024139 |
A |
G |
15: 76,121,739 |
W421R |
probably damaging |
Het |
Car11 |
T |
C |
7: 45,702,485 |
S113P |
probably benign |
Het |
Ccdc146 |
C |
T |
5: 21,305,269 |
A582T |
possibly damaging |
Het |
Cct8l1 |
A |
G |
5: 25,517,135 |
T283A |
probably benign |
Het |
Ckap5 |
A |
G |
2: 91,588,698 |
I1118V |
probably benign |
Het |
Copa |
C |
T |
1: 172,121,404 |
Q1199* |
probably null |
Het |
Cpd |
A |
T |
11: 76,790,999 |
N1140K |
probably benign |
Het |
Cspp1 |
A |
G |
1: 10,104,305 |
D661G |
probably damaging |
Het |
Dab2 |
A |
G |
15: 6,436,993 |
Q729R |
possibly damaging |
Het |
Dnah9 |
T |
C |
11: 66,033,925 |
I2168V |
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,643,247 |
R2821H |
probably damaging |
Het |
Ercc5 |
T |
C |
1: 44,156,973 |
V42A |
probably benign |
Het |
Evc |
A |
G |
5: 37,310,237 |
V566A |
probably benign |
Het |
Fcrls |
T |
C |
3: 87,257,349 |
Y290C |
probably damaging |
Het |
Frmd4a |
A |
G |
2: 4,534,553 |
R171G |
probably damaging |
Het |
Galnt17 |
G |
A |
5: 131,111,823 |
P152L |
probably damaging |
Het |
Gfi1 |
A |
G |
5: 107,721,431 |
L245P |
probably damaging |
Het |
Heatr4 |
T |
C |
12: 83,980,463 |
K7E |
possibly damaging |
Het |
Ifit3b |
A |
G |
19: 34,612,305 |
N294D |
probably benign |
Het |
Ift74 |
A |
G |
4: 94,653,028 |
Y230C |
probably damaging |
Het |
Igsf10 |
C |
T |
3: 59,325,454 |
V1953I |
probably benign |
Het |
Ikzf5 |
T |
C |
7: 131,396,761 |
D14G |
probably damaging |
Het |
Il12rb2 |
T |
A |
6: 67,354,805 |
T259S |
possibly damaging |
Het |
Itgae |
T |
A |
11: 73,114,926 |
D305E |
probably damaging |
Het |
Kif23 |
A |
C |
9: 61,937,476 |
D90E |
probably benign |
Het |
Kprp |
A |
G |
3: 92,824,463 |
F427L |
unknown |
Het |
Lmnb1 |
T |
A |
18: 56,731,105 |
Y261N |
probably damaging |
Het |
Megf8 |
T |
C |
7: 25,317,556 |
V17A |
probably benign |
Het |
Mfap4 |
T |
C |
11: 61,487,231 |
Y190H |
probably benign |
Het |
Mlh1 |
T |
C |
9: 111,236,017 |
|
probably null |
Het |
Mocos |
C |
A |
18: 24,676,629 |
Q430K |
probably damaging |
Het |
Ndst2 |
A |
G |
14: 20,724,754 |
F794L |
probably damaging |
Het |
Nedd4l |
A |
T |
18: 65,163,130 |
I197F |
possibly damaging |
Het |
Nefm |
A |
G |
14: 68,123,786 |
L343P |
probably damaging |
Het |
Nfatc4 |
A |
G |
14: 55,832,834 |
|
probably benign |
Het |
Nlrp4a |
T |
A |
7: 26,449,230 |
|
probably null |
Het |
Nlrp4f |
A |
T |
13: 65,194,343 |
L496* |
probably null |
Het |
Nom1 |
T |
C |
5: 29,443,417 |
F654S |
probably damaging |
Het |
Olfr730 |
A |
T |
14: 50,186,847 |
Y123* |
probably null |
Het |
Pde4dip |
T |
C |
3: 97,701,617 |
N1974S |
possibly damaging |
Het |
Pik3c3 |
T |
C |
18: 30,344,078 |
|
probably null |
Het |
Pik3ca |
C |
T |
3: 32,436,548 |
R115* |
probably null |
Het |
Pik3ca |
T |
C |
3: 32,443,885 |
I492T |
probably benign |
Het |
Ppp1ca |
G |
A |
19: 4,194,595 |
E218K |
possibly damaging |
Het |
Prex1 |
G |
T |
2: 166,601,772 |
D492E |
possibly damaging |
Het |
Scaf8 |
T |
C |
17: 3,197,591 |
V1063A |
possibly damaging |
Het |
Scn3a |
G |
T |
2: 65,536,536 |
N47K |
probably benign |
Het |
Sec61a2 |
G |
T |
2: 5,873,745 |
N348K |
probably benign |
Het |
Sh3rf2 |
A |
G |
18: 42,101,650 |
E166G |
probably damaging |
Het |
Slc19a2 |
C |
A |
1: 164,249,413 |
T54K |
probably damaging |
Het |
Slc8a3 |
T |
A |
12: 81,202,339 |
I765F |
probably damaging |
Het |
Snap91 |
A |
T |
9: 86,879,550 |
M1K |
probably null |
Het |
Strc |
T |
C |
2: 121,365,111 |
H1619R |
probably damaging |
Het |
Tbl1xr1 |
C |
T |
3: 22,191,451 |
T207M |
possibly damaging |
Het |
Tchp |
T |
C |
5: 114,709,519 |
|
probably null |
Het |
Tln1 |
A |
T |
4: 43,539,668 |
F1581Y |
probably damaging |
Het |
Tnxb |
T |
C |
17: 34,703,620 |
V2469A |
possibly damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 |
P46S |
probably benign |
Het |
Vmn1r225 |
T |
A |
17: 20,502,793 |
F165L |
probably benign |
Het |
Vmn2r13 |
T |
C |
5: 109,174,312 |
D173G |
possibly damaging |
Het |
Vmn2r6 |
A |
C |
3: 64,538,286 |
S673A |
possibly damaging |
Het |
Vta1 |
G |
A |
10: 14,705,427 |
|
probably benign |
Het |
Wwc1 |
T |
C |
11: 35,875,929 |
T500A |
probably benign |
Het |
Zfp784 |
T |
A |
7: 5,036,117 |
Q147H |
possibly damaging |
Het |
|
Other mutations in Pcdhac2 |
|
Predicted Primers |
PCR Primer
(F):5'- TACCAGGTGTGTTGCTCTGC -3'
(R):5'- ATTCTGCCCAGAGTCTGAATCC -3'
Sequencing Primer
(F):5'- TGTTGCTCTGCACTGTGC -3'
(R):5'- CCAGAGTCTGAATCCATGGCTATG -3'
|
Posted On |
2014-12-04 |