Incidental Mutation 'R5276:Pcdhga12'
| ID |
403979 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga12
|
| Ensembl Gene |
ENSMUSG00000102428 |
| Gene Name |
protocadherin gamma subfamily A, 12 |
| Synonyms |
Pcdh13, pc2c |
| MMRRC Submission |
042863-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R5276 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37898633-37974926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37899728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 187
(D187N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036359
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000044851]
[ENSMUST00000061279]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000194544]
[ENSMUST00000192535]
[ENSMUST00000193414]
[ENSMUST00000194928]
[ENSMUST00000192511]
[ENSMUST00000192931]
[ENSMUST00000193869]
[ENSMUST00000193404]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000208907]
[ENSMUST00000195363]
[ENSMUST00000195112]
[ENSMUST00000195823]
[ENSMUST00000195764]
|
| AlphaFold |
Q91XY7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003599
|
| SMART Domains |
Protein: ENSMUSP00000003599
Gene: ENSMUSG00000103088
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
47 |
131 |
8.06e-6 |
SMART |
|
CA
|
155 |
240 |
2.29e-19 |
SMART |
|
CA
|
264 |
345 |
3.36e-26 |
SMART |
|
CA
|
369 |
450 |
4.94e-24 |
SMART |
|
CA
|
474 |
560 |
7.6e-25 |
SMART |
|
CA
|
591 |
672 |
9.18e-10 |
SMART |
|
Pfam:Cadherin_C_2
|
687 |
768 |
3.5e-20 |
PFAM |
|
Pfam:Cadherin_tail
|
807 |
930 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044851
AA Change: D187N
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000036359
Gene: ENSMUSG00000102428
AA Change: D187N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
CA
|
45 |
131 |
3.28e-1 |
SMART |
|
CA
|
155 |
240 |
1.8e-17 |
SMART |
|
CA
|
264 |
345 |
9.22e-24 |
SMART |
|
CA
|
369 |
450 |
1.28e-22 |
SMART |
|
CA
|
474 |
560 |
1.09e-25 |
SMART |
|
CA
|
591 |
669 |
9.24e-15 |
SMART |
|
Pfam:Cadherin_C_2
|
688 |
772 |
3.6e-25 |
PFAM |
|
Pfam:Cadherin_tail
|
809 |
932 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061279
|
| SMART Domains |
Protein: ENSMUSP00000058362
Gene: ENSMUSG00000102742
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
45 |
131 |
3.23e-2 |
SMART |
|
CA
|
155 |
240 |
2.22e-17 |
SMART |
|
CA
|
264 |
345 |
3.36e-26 |
SMART |
|
CA
|
369 |
450 |
7.09e-25 |
SMART |
|
CA
|
474 |
560 |
3.55e-25 |
SMART |
|
CA
|
591 |
669 |
2.53e-12 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
914 |
933 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066149
|
| SMART Domains |
Protein: ENSMUSP00000067728
Gene: ENSMUSG00000103897
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
CA
|
31 |
131 |
4.84e-2 |
SMART |
|
CA
|
155 |
240 |
1.48e-22 |
SMART |
|
CA
|
264 |
345 |
1.14e-23 |
SMART |
|
CA
|
369 |
450 |
9.44e-21 |
SMART |
|
CA
|
474 |
560 |
1.03e-26 |
SMART |
|
CA
|
591 |
669 |
3.64e-13 |
SMART |
|
Pfam:Cadherin_C_2
|
688 |
772 |
3e-25 |
PFAM |
|
Pfam:Cadherin_tail
|
809 |
932 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073447
|
| SMART Domains |
Protein: ENSMUSP00000073150
Gene: ENSMUSG00000104346
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
CA
|
42 |
128 |
2.15e-2 |
SMART |
|
CA
|
152 |
237 |
4.8e-13 |
SMART |
|
CA
|
261 |
342 |
9.36e-25 |
SMART |
|
CA
|
366 |
447 |
6.62e-25 |
SMART |
|
CA
|
471 |
557 |
6.72e-26 |
SMART |
|
CA
|
588 |
666 |
2.15e-15 |
SMART |
|
Pfam:Cadherin_C_2
|
685 |
768 |
4.8e-24 |
PFAM |
|
Pfam:Cadherin_tail
|
805 |
928 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091935
|
| SMART Domains |
Protein: ENSMUSP00000089555
Gene: ENSMUSG00000102440
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
CA
|
32 |
132 |
8.37e-3 |
SMART |
|
CA
|
156 |
241 |
5.51e-22 |
SMART |
|
CA
|
265 |
346 |
8.27e-26 |
SMART |
|
CA
|
370 |
451 |
1.4e-23 |
SMART |
|
CA
|
475 |
561 |
2.97e-27 |
SMART |
|
CA
|
592 |
670 |
1.18e-12 |
SMART |
|
Pfam:Cadherin_C_2
|
688 |
772 |
3.9e-24 |
PFAM |
|
Pfam:Cadherin_tail
|
809 |
932 |
8.1e-38 |
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 |
noncoding transcript
Transcript: ENSMUST00000180922
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193045
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192501
|
| 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: ENSMUST00000192535
|
| SMART Domains |
Protein: ENSMUSP00000142010
Gene: ENSMUSG00000103749
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
25 |
N/A |
INTRINSIC |
|
CA
|
56 |
131 |
8e-3 |
SMART |
|
CA
|
155 |
240 |
2.49e-20 |
SMART |
|
CA
|
264 |
341 |
4.97e-29 |
SMART |
|
CA
|
365 |
446 |
1.09e-25 |
SMART |
|
CA
|
470 |
556 |
1.75e-24 |
SMART |
|
CA
|
587 |
668 |
9.18e-10 |
SMART |
|
transmembrane domain
|
687 |
709 |
N/A |
INTRINSIC |
|
low complexity region
|
907 |
926 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193414
|
| SMART Domains |
Protein: ENSMUSP00000141893
Gene: ENSMUSG00000103567
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
45 |
131 |
2.45e-1 |
SMART |
|
CA
|
155 |
240 |
1.05e-18 |
SMART |
|
CA
|
264 |
345 |
6.52e-24 |
SMART |
|
CA
|
369 |
450 |
5.99e-23 |
SMART |
|
CA
|
474 |
560 |
6.99e-24 |
SMART |
|
CA
|
591 |
669 |
5.31e-15 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
932 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194928
|
| SMART Domains |
Protein: ENSMUSP00000141997
Gene: ENSMUSG00000104063
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
47 |
131 |
2.48e-6 |
SMART |
|
CA
|
155 |
240 |
1.57e-17 |
SMART |
|
CA
|
264 |
343 |
1.29e-27 |
SMART |
|
CA
|
367 |
448 |
9.14e-28 |
SMART |
|
CA
|
472 |
558 |
1.24e-24 |
SMART |
|
CA
|
589 |
670 |
3.73e-10 |
SMART |
|
transmembrane domain
|
689 |
711 |
N/A |
INTRINSIC |
|
low complexity region
|
716 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
929 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192511
|
| SMART Domains |
Protein: ENSMUSP00000141704
Gene: ENSMUSG00000103472
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
47 |
133 |
1.57e-2 |
SMART |
|
CA
|
157 |
242 |
3.24e-19 |
SMART |
|
CA
|
266 |
347 |
3.21e-23 |
SMART |
|
CA
|
371 |
452 |
9.08e-23 |
SMART |
|
CA
|
476 |
562 |
1.32e-24 |
SMART |
|
CA
|
593 |
671 |
3.5e-15 |
SMART |
|
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
|
low complexity region
|
916 |
935 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192931
|
| SMART Domains |
Protein: ENSMUSP00000141348
Gene: ENSMUSG00000103037
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
36 |
119 |
8e-3 |
SMART |
|
CA
|
143 |
228 |
1.34e-20 |
SMART |
|
CA
|
252 |
333 |
1.52e-24 |
SMART |
|
CA
|
357 |
438 |
9.22e-24 |
SMART |
|
CA
|
462 |
548 |
1.24e-24 |
SMART |
|
CA
|
579 |
660 |
1.3e-9 |
SMART |
|
transmembrane domain
|
679 |
701 |
N/A |
INTRINSIC |
|
low complexity region
|
899 |
918 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193869
|
| SMART Domains |
Protein: ENSMUSP00000141482
Gene: ENSMUSG00000103332
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
45 |
131 |
1.64e-2 |
SMART |
|
CA
|
155 |
240 |
6.42e-23 |
SMART |
|
CA
|
264 |
345 |
1.76e-20 |
SMART |
|
CA
|
369 |
450 |
2.27e-23 |
SMART |
|
CA
|
474 |
560 |
1.5e-23 |
SMART |
|
CA
|
591 |
669 |
1.17e-16 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
931 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193404
|
| SMART Domains |
Protein: ENSMUSP00000141359
Gene: ENSMUSG00000102222
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
43 |
129 |
2.76e-2 |
SMART |
|
CA
|
153 |
238 |
1.16e-20 |
SMART |
|
CA
|
262 |
343 |
1.25e-25 |
SMART |
|
CA
|
367 |
448 |
4.75e-26 |
SMART |
|
CA
|
472 |
558 |
3.69e-23 |
SMART |
|
CA
|
589 |
667 |
3.84e-12 |
SMART |
|
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
930 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194190
|
| SMART Domains |
Protein: ENSMUSP00000142062
Gene: ENSMUSG00000103144
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
31 |
131 |
3.16e-2 |
SMART |
|
CA
|
155 |
240 |
5.39e-16 |
SMART |
|
CA
|
264 |
345 |
6.72e-26 |
SMART |
|
CA
|
369 |
450 |
1.32e-24 |
SMART |
|
CA
|
474 |
560 |
4.17e-22 |
SMART |
|
CA
|
591 |
669 |
4.48e-13 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
931 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194418
|
| SMART Domains |
Protein: ENSMUSP00000142140
Gene: ENSMUSG00000103677
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
44 |
130 |
1.64e-2 |
SMART |
|
CA
|
154 |
239 |
3.93e-18 |
SMART |
|
CA
|
263 |
344 |
5.22e-23 |
SMART |
|
CA
|
368 |
449 |
5.02e-25 |
SMART |
|
CA
|
473 |
559 |
2.07e-26 |
SMART |
|
CA
|
590 |
668 |
6.84e-18 |
SMART |
|
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
930 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208907
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195363
|
| SMART Domains |
Protein: ENSMUSP00000142227
Gene: ENSMUSG00000103585
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
25 |
N/A |
INTRINSIC |
|
CA
|
56 |
131 |
1.47e-2 |
SMART |
|
CA
|
155 |
240 |
1.23e-19 |
SMART |
|
CA
|
264 |
343 |
5.54e-27 |
SMART |
|
CA
|
367 |
448 |
5.09e-26 |
SMART |
|
CA
|
472 |
558 |
1.98e-23 |
SMART |
|
CA
|
589 |
670 |
1.3e-9 |
SMART |
|
transmembrane domain
|
689 |
711 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
912 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195112
|
| SMART Domains |
Protein: ENSMUSP00000141449
Gene: ENSMUSG00000102748
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
24 |
130 |
8.18e-3 |
SMART |
|
CA
|
154 |
239 |
1.39e-18 |
SMART |
|
CA
|
263 |
344 |
7.91e-23 |
SMART |
|
CA
|
368 |
449 |
2.27e-23 |
SMART |
|
CA
|
473 |
559 |
1.24e-24 |
SMART |
|
CA
|
590 |
671 |
1.3e-9 |
SMART |
|
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
909 |
928 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195823
|
| SMART Domains |
Protein: ENSMUSP00000141803
Gene: ENSMUSG00000103793
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
CA
|
45 |
131 |
2.41e-2 |
SMART |
|
CA
|
155 |
240 |
5.77e-16 |
SMART |
|
CA
|
264 |
345 |
1.1e-21 |
SMART |
|
CA
|
369 |
450 |
2.75e-22 |
SMART |
|
low complexity region
|
453 |
462 |
N/A |
INTRINSIC |
|
CA
|
474 |
560 |
9.22e-24 |
SMART |
|
CA
|
591 |
669 |
2.4e-13 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
932 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195764
|
| SMART Domains |
Protein: ENSMUSP00000142272
Gene: ENSMUSG00000103081
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
CA
|
57 |
132 |
1.5e-4 |
SMART |
|
CA
|
156 |
241 |
1.2e-20 |
SMART |
|
CA
|
265 |
346 |
7.8e-29 |
SMART |
|
CA
|
370 |
451 |
1.7e-26 |
SMART |
|
CA
|
475 |
561 |
2.2e-26 |
SMART |
|
CA
|
592 |
673 |
6.4e-12 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
930 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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 gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
A |
G |
8: 44,023,457 (GRCm39) |
F11S |
probably benign |
Het |
| Adipor2 |
T |
A |
6: 119,334,182 (GRCm39) |
I343F |
probably damaging |
Het |
| Ahdc1 |
C |
T |
4: 132,790,109 (GRCm39) |
P450L |
possibly damaging |
Het |
| Akna |
A |
C |
4: 63,286,440 (GRCm39) |
V1353G |
possibly damaging |
Het |
| Baz2b |
G |
A |
2: 59,792,958 (GRCm39) |
T390I |
probably benign |
Het |
| Btbd7 |
T |
C |
12: 102,804,651 (GRCm39) |
K130E |
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,965,415 (GRCm39) |
Y1101C |
probably damaging |
Het |
| Crlf2 |
T |
G |
5: 109,705,501 (GRCm39) |
|
probably benign |
Het |
| Ddx59 |
A |
T |
1: 136,347,186 (GRCm39) |
R281S |
probably damaging |
Het |
| Dgcr8 |
T |
G |
16: 18,101,635 (GRCm39) |
T216P |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,579,896 (GRCm39) |
I34F |
probably benign |
Het |
| Enpp3 |
A |
G |
10: 24,685,814 (GRCm39) |
S194P |
probably damaging |
Het |
| Entpd8 |
C |
T |
2: 24,975,057 (GRCm39) |
R463W |
probably benign |
Het |
| Fam169a |
A |
G |
13: 97,255,004 (GRCm39) |
T407A |
probably benign |
Het |
| Fam98b |
G |
T |
2: 117,089,779 (GRCm39) |
V99F |
possibly damaging |
Het |
| Foxn3 |
T |
A |
12: 99,162,687 (GRCm39) |
K405* |
probably null |
Het |
| Gsdmc |
T |
C |
15: 63,673,806 (GRCm39) |
T160A |
probably benign |
Het |
| Hdac1 |
T |
C |
4: 129,422,716 (GRCm39) |
|
probably null |
Het |
| Igfbp1 |
A |
C |
11: 7,151,892 (GRCm39) |
T232P |
probably damaging |
Het |
| Lcor |
T |
A |
19: 41,573,478 (GRCm39) |
H744Q |
probably damaging |
Het |
| Mertk |
G |
C |
2: 128,643,234 (GRCm39) |
G878R |
possibly damaging |
Het |
| Metap2 |
G |
T |
10: 93,704,784 (GRCm39) |
P281H |
possibly damaging |
Het |
| Metap2 |
T |
A |
10: 93,704,794 (GRCm39) |
T278S |
probably benign |
Het |
| Mfn1 |
T |
C |
3: 32,618,354 (GRCm39) |
V169A |
probably benign |
Het |
| Mms22l |
A |
G |
4: 24,578,774 (GRCm39) |
D751G |
probably damaging |
Het |
| Mpl |
A |
G |
4: 118,312,918 (GRCm39) |
V138A |
probably benign |
Het |
| Myef2 |
T |
A |
2: 124,937,641 (GRCm39) |
K533N |
probably damaging |
Het |
| Mylk3 |
C |
T |
8: 86,082,071 (GRCm39) |
G309E |
probably damaging |
Het |
| Nid1 |
T |
C |
13: 13,643,157 (GRCm39) |
V365A |
probably damaging |
Het |
| Or4d2 |
A |
T |
11: 87,784,018 (GRCm39) |
I244N |
probably damaging |
Het |
| Or5p57 |
A |
T |
7: 107,665,423 (GRCm39) |
L164* |
probably null |
Het |
| Or7d10 |
C |
A |
9: 19,831,917 (GRCm39) |
N137K |
possibly damaging |
Het |
| Or8g19 |
T |
C |
9: 39,055,611 (GRCm39) |
C72R |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,828,141 (GRCm39) |
K1323E |
probably damaging |
Het |
| Phrf1 |
T |
C |
7: 140,839,196 (GRCm39) |
|
probably benign |
Het |
| Phtf2 |
A |
G |
5: 20,977,195 (GRCm39) |
V608A |
probably benign |
Het |
| Plec |
G |
A |
15: 76,057,638 (GRCm39) |
R4122W |
probably damaging |
Het |
| Polm |
A |
G |
11: 5,779,393 (GRCm39) |
S441P |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,104,734 (GRCm39) |
V1404E |
probably benign |
Het |
| Ptger1 |
T |
G |
8: 84,395,974 (GRCm39) |
S344A |
possibly damaging |
Het |
| Rasef |
A |
T |
4: 73,654,004 (GRCm39) |
D401E |
probably null |
Het |
| Rbfox3 |
T |
C |
11: 118,387,178 (GRCm39) |
Y312C |
probably damaging |
Het |
| Rbm48 |
A |
G |
5: 3,634,759 (GRCm39) |
C402R |
probably benign |
Het |
| Rhbdl3 |
G |
A |
11: 80,210,492 (GRCm39) |
A82T |
probably benign |
Het |
| Rnf123 |
AT |
ATT |
9: 107,941,202 (GRCm39) |
|
probably null |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Homo |
| Sidt2 |
T |
A |
9: 45,866,075 (GRCm39) |
N44Y |
probably damaging |
Het |
| Slf2 |
T |
A |
19: 44,923,600 (GRCm39) |
L138Q |
possibly damaging |
Het |
| Spag16 |
T |
C |
1: 69,935,742 (GRCm39) |
|
probably null |
Het |
| Sspo |
C |
T |
6: 48,467,401 (GRCm39) |
P4188S |
probably damaging |
Het |
| Synm |
C |
T |
7: 67,384,437 (GRCm39) |
S1075N |
probably benign |
Het |
| Tacc2 |
G |
T |
7: 130,331,047 (GRCm39) |
D2151Y |
probably damaging |
Het |
| Tbc1d32 |
C |
A |
10: 56,027,914 (GRCm39) |
L729F |
probably damaging |
Het |
| Tnfsf4 |
A |
G |
1: 161,244,584 (GRCm39) |
N91S |
possibly damaging |
Het |
| Trim63 |
G |
A |
4: 134,050,444 (GRCm39) |
E243K |
probably benign |
Het |
| Trim72 |
T |
G |
7: 127,603,714 (GRCm39) |
L20R |
probably damaging |
Het |
| Tubb1 |
A |
G |
2: 174,299,217 (GRCm39) |
M300V |
probably damaging |
Het |
| Ubfd1 |
C |
T |
7: 121,668,091 (GRCm39) |
A207V |
probably damaging |
Het |
| Usp16 |
T |
A |
16: 87,267,339 (GRCm39) |
|
probably null |
Het |
| Vmn2r23 |
A |
G |
6: 123,689,936 (GRCm39) |
T271A |
possibly damaging |
Het |
| Vmn2r72 |
T |
A |
7: 85,387,462 (GRCm39) |
I701F |
possibly damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,769,232 (GRCm39) |
Y2078H |
probably damaging |
Het |
| Wdr41 |
T |
C |
13: 95,153,958 (GRCm39) |
|
probably null |
Het |
| Zfp955b |
A |
G |
17: 33,522,031 (GRCm39) |
Y500C |
probably damaging |
Het |
|
| Other mutations in Pcdhga12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R3946:Pcdhga12
|
UTSW |
18 |
37,900,682 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3964:Pcdhga12
|
UTSW |
18 |
37,900,254 (GRCm39) |
missense |
probably benign |
|
|
R4169:Pcdhga12
|
UTSW |
18 |
37,899,467 (GRCm39) |
missense |
probably benign |
|
|
R4363:Pcdhga12
|
UTSW |
18 |
37,899,214 (GRCm39) |
missense |
probably benign |
|
|
R4409:Pcdhga12
|
UTSW |
18 |
37,901,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4754:Pcdhga12
|
UTSW |
18 |
37,899,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4863:Pcdhga12
|
UTSW |
18 |
37,901,334 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4890:Pcdhga12
|
UTSW |
18 |
37,901,290 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5029:Pcdhga12
|
UTSW |
18 |
37,899,864 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5114:Pcdhga12
|
UTSW |
18 |
37,901,160 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5274:Pcdhga12
|
UTSW |
18 |
37,899,475 (GRCm39) |
nonsense |
probably null |
|
|
R5389:Pcdhga12
|
UTSW |
18 |
37,899,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5454:Pcdhga12
|
UTSW |
18 |
37,899,314 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5615:Pcdhga12
|
UTSW |
18 |
37,901,132 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5704:Pcdhga12
|
UTSW |
18 |
37,900,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5825:Pcdhga12
|
UTSW |
18 |
37,901,556 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5982:Pcdhga12
|
UTSW |
18 |
37,901,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6810:Pcdhga12
|
UTSW |
18 |
37,900,232 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7330:Pcdhga12
|
UTSW |
18 |
37,901,439 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7611:Pcdhga12
|
UTSW |
18 |
37,901,478 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7976:Pcdhga12
|
UTSW |
18 |
37,901,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8354:Pcdhga12
|
UTSW |
18 |
37,901,190 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8454:Pcdhga12
|
UTSW |
18 |
37,901,190 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8487:Pcdhga12
|
UTSW |
18 |
37,900,631 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8911:Pcdhga12
|
UTSW |
18 |
37,900,118 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8946:Pcdhga12
|
UTSW |
18 |
37,899,711 (GRCm39) |
missense |
probably benign |
|
|
R9093:Pcdhga12
|
UTSW |
18 |
37,899,931 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9293:Pcdhga12
|
UTSW |
18 |
37,900,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9607:Pcdhga12
|
UTSW |
18 |
37,901,389 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9649:Pcdhga12
|
UTSW |
18 |
37,900,288 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCCTACTTCCGTGAAAGTG -3'
(R):5'- AGATCACTTCCGCATTGGC -3'
Sequencing Primer
(F):5'- CCCTACTTCCGTGAAAGTGAATTAG -3'
(R):5'- CATTGGCGCCTTCGTCTGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation