Incidental Mutation 'R4952:Pcdhga10'
| ID |
382112 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga10
|
| Ensembl Gene |
ENSMUSG00000102222 |
| Gene Name |
protocadherin gamma subfamily A, 10 |
| Synonyms |
|
| MMRRC Submission |
042549-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R4952 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37880069-37974923 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 37880213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000194544]
[ENSMUST00000192931]
[ENSMUST00000195363]
[ENSMUST00000192535]
[ENSMUST00000193869]
[ENSMUST00000195112]
[ENSMUST00000195823]
[ENSMUST00000193414]
[ENSMUST00000193404]
[ENSMUST00000192511]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000194928]
|
| AlphaFold |
Q91XY9 |
| 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 |
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: ENSMUST00000180931
|
| 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: ENSMUST00000193984
|
| 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: 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: 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: 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: 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: 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: 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: 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: 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: 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.0%
|
| Validation Efficiency |
99% (93/94) |
| 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 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
G |
5: 109,887,063 (GRCm39) |
|
probably null |
Het |
| 4933421I07Rik |
T |
C |
7: 42,097,083 (GRCm39) |
Y76C |
possibly damaging |
Het |
| Adcy4 |
C |
T |
14: 56,016,486 (GRCm39) |
D322N |
probably damaging |
Het |
| Ak9 |
A |
G |
10: 41,296,585 (GRCm39) |
M1444V |
probably benign |
Het |
| Amfr |
A |
G |
8: 94,699,787 (GRCm39) |
|
probably benign |
Het |
| Ankef1 |
A |
G |
2: 136,392,449 (GRCm39) |
E546G |
probably damaging |
Het |
| Ankrd24 |
A |
G |
10: 81,482,982 (GRCm39) |
M977V |
probably benign |
Het |
| Ap3m1 |
A |
T |
14: 21,090,134 (GRCm39) |
S5T |
probably benign |
Het |
| Aqr |
C |
A |
2: 113,940,418 (GRCm39) |
D1243Y |
probably damaging |
Het |
| Arhgef2 |
T |
C |
3: 88,549,769 (GRCm39) |
L591P |
probably damaging |
Het |
| Arid4a |
C |
A |
12: 71,070,299 (GRCm39) |
T70K |
possibly damaging |
Het |
| Asphd1 |
C |
T |
7: 126,547,857 (GRCm39) |
A149T |
probably benign |
Het |
| Avpr1a |
T |
A |
10: 122,285,659 (GRCm39) |
M317K |
probably damaging |
Het |
| Birc2 |
T |
C |
9: 7,836,741 (GRCm39) |
I109V |
probably damaging |
Het |
| Catsperd |
A |
G |
17: 56,939,303 (GRCm39) |
Y44C |
probably damaging |
Het |
| Crygb |
T |
G |
1: 65,121,268 (GRCm39) |
S20R |
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,928,334 (GRCm39) |
N237S |
probably benign |
Het |
| Dkk3 |
C |
T |
7: 111,717,558 (GRCm39) |
A304T |
probably benign |
Het |
| Dst |
T |
C |
1: 34,310,503 (GRCm39) |
L4101S |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,126,968 (GRCm39) |
N1407S |
possibly damaging |
Het |
| Epb41 |
A |
G |
4: 131,727,581 (GRCm39) |
V265A |
probably damaging |
Het |
| Faim2 |
C |
T |
15: 99,419,109 (GRCm39) |
E75K |
possibly damaging |
Het |
| Fam237b |
T |
A |
5: 5,625,387 (GRCm39) |
F28I |
probably benign |
Het |
| Fbn1 |
T |
A |
2: 125,159,454 (GRCm39) |
D2208V |
probably damaging |
Het |
| Fbxo28 |
A |
G |
1: 182,153,950 (GRCm39) |
S129P |
probably damaging |
Het |
| Fbxw14 |
T |
A |
9: 109,105,269 (GRCm39) |
I299L |
probably benign |
Het |
| Fras1 |
C |
T |
5: 96,795,357 (GRCm39) |
A1050V |
probably benign |
Het |
| Fyb1 |
C |
A |
15: 6,668,292 (GRCm39) |
T495K |
probably damaging |
Het |
| Ghdc |
A |
T |
11: 100,659,977 (GRCm39) |
W257R |
probably damaging |
Het |
| Gm10719 |
T |
C |
9: 3,018,962 (GRCm39) |
L69S |
probably benign |
Het |
| Gm12250 |
G |
T |
11: 58,079,210 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4846 |
A |
T |
1: 166,311,503 (GRCm39) |
F452Y |
probably damaging |
Het |
| Gpbp1 |
T |
C |
13: 111,577,284 (GRCm39) |
D202G |
probably damaging |
Het |
| Gpd2 |
C |
A |
2: 57,197,025 (GRCm39) |
Y193* |
probably null |
Het |
| Grhl2 |
G |
T |
15: 37,287,493 (GRCm39) |
R229L |
probably benign |
Het |
| Gtf2a1 |
A |
G |
12: 91,542,523 (GRCm39) |
F59L |
possibly damaging |
Het |
| Heatr1 |
G |
T |
13: 12,425,480 (GRCm39) |
W640L |
probably benign |
Het |
| Kalrn |
A |
T |
16: 34,177,785 (GRCm39) |
|
probably null |
Het |
| Keap1 |
T |
C |
9: 21,148,582 (GRCm39) |
T142A |
probably damaging |
Het |
| Kpna2 |
G |
A |
11: 106,882,061 (GRCm39) |
T255M |
probably damaging |
Het |
| Kpna3 |
A |
G |
14: 61,607,838 (GRCm39) |
C456R |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,074,561 (GRCm39) |
|
probably null |
Het |
| Lrrc37 |
T |
C |
11: 103,505,033 (GRCm39) |
T2312A |
possibly damaging |
Het |
| Mag |
C |
A |
7: 30,608,581 (GRCm39) |
E178* |
probably null |
Het |
| Map3k13 |
A |
G |
16: 21,729,769 (GRCm39) |
I467V |
probably benign |
Het |
| Mga |
A |
G |
2: 119,733,782 (GRCm39) |
E210G |
probably damaging |
Het |
| Msi2 |
C |
T |
11: 88,257,610 (GRCm39) |
|
probably null |
Het |
| Naa16 |
A |
T |
14: 79,582,525 (GRCm39) |
D521E |
probably damaging |
Het |
| Nav2 |
C |
T |
7: 48,954,288 (GRCm39) |
|
probably benign |
Het |
| Nek10 |
T |
A |
14: 14,860,986 (GRCm38) |
L513M |
possibly damaging |
Het |
| Nek5 |
T |
C |
8: 22,586,815 (GRCm39) |
K332R |
probably benign |
Het |
| Nek5 |
T |
A |
8: 22,569,104 (GRCm39) |
I573L |
probably benign |
Het |
| Ntn1 |
CCTTCTTCT |
CCTTCT |
11: 68,103,852 (GRCm39) |
|
probably benign |
Het |
| Odad1 |
A |
C |
7: 45,591,615 (GRCm39) |
E293A |
probably damaging |
Het |
| Or2w1 |
G |
A |
13: 21,317,514 (GRCm39) |
V190I |
probably benign |
Het |
| Or5v1b |
A |
T |
17: 37,841,641 (GRCm39) |
T258S |
possibly damaging |
Het |
| Or6c204 |
T |
A |
10: 129,022,466 (GRCm39) |
T275S |
probably benign |
Het |
| Or8b12b |
T |
A |
9: 37,684,360 (GRCm39) |
M135K |
probably damaging |
Het |
| Orai1 |
T |
G |
5: 123,167,313 (GRCm39) |
V162G |
probably damaging |
Het |
| P2rx6 |
T |
C |
16: 17,385,308 (GRCm39) |
S134P |
probably damaging |
Het |
| Pappa2 |
G |
A |
1: 158,684,706 (GRCm39) |
T811I |
probably null |
Het |
| Pex16 |
C |
T |
2: 92,209,405 (GRCm39) |
R241* |
probably null |
Het |
| Plxnb1 |
T |
C |
9: 108,943,904 (GRCm39) |
F1969L |
probably damaging |
Het |
| Postn |
A |
G |
3: 54,297,736 (GRCm39) |
|
probably benign |
Het |
| Prdm15 |
A |
T |
16: 97,607,277 (GRCm39) |
I752N |
probably damaging |
Het |
| Rasgef1c |
A |
T |
11: 49,870,339 (GRCm39) |
K468M |
probably damaging |
Het |
| Rbfox1 |
A |
G |
16: 7,094,952 (GRCm39) |
S111G |
probably benign |
Het |
| Rbm28 |
T |
C |
6: 29,138,597 (GRCm39) |
D405G |
probably damaging |
Het |
| Rell1 |
A |
G |
5: 64,097,010 (GRCm39) |
|
probably benign |
Het |
| Rfx3 |
A |
G |
19: 27,808,072 (GRCm39) |
S224P |
probably damaging |
Het |
| Scarb2 |
A |
T |
5: 92,602,636 (GRCm39) |
I260K |
probably damaging |
Het |
| Septin4 |
A |
G |
11: 87,458,598 (GRCm39) |
N324S |
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,680,901 (GRCm39) |
F72L |
probably damaging |
Het |
| Spg7 |
C |
A |
8: 123,816,910 (GRCm39) |
R534S |
probably damaging |
Het |
| Stoml2 |
T |
C |
4: 43,029,589 (GRCm39) |
T164A |
probably benign |
Het |
| Syt11 |
C |
T |
3: 88,669,590 (GRCm39) |
G101S |
possibly damaging |
Het |
| Traj12 |
A |
G |
14: 54,444,013 (GRCm39) |
|
probably benign |
Het |
| Traj7 |
A |
T |
14: 54,448,981 (GRCm39) |
|
probably benign |
Het |
| Tysnd1 |
C |
T |
10: 61,537,855 (GRCm39) |
T175I |
possibly damaging |
Het |
| Usp48 |
T |
G |
4: 137,334,004 (GRCm39) |
Y139* |
probably null |
Het |
| Vmn2r72 |
A |
G |
7: 85,400,317 (GRCm39) |
L244P |
probably benign |
Het |
| Wasf1 |
C |
A |
10: 40,812,186 (GRCm39) |
P325Q |
unknown |
Het |
| Zc3h18 |
T |
A |
8: 123,137,639 (GRCm39) |
|
probably benign |
Het |
| Zfp712 |
A |
G |
13: 67,188,905 (GRCm39) |
S541P |
possibly damaging |
Het |
|
| Other mutations in Pcdhga10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4468001:Pcdhga10
|
UTSW |
18 |
37,880,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2848:Pcdhga10
|
UTSW |
18 |
37,881,253 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2849:Pcdhga10
|
UTSW |
18 |
37,881,253 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3692:Pcdhga10
|
UTSW |
18 |
37,881,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3820:Pcdhga10
|
UTSW |
18 |
37,880,995 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3821:Pcdhga10
|
UTSW |
18 |
37,880,995 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3850:Pcdhga10
|
UTSW |
18 |
37,882,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3882:Pcdhga10
|
UTSW |
18 |
37,880,494 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3891:Pcdhga10
|
UTSW |
18 |
37,882,534 (GRCm39) |
missense |
probably benign |
0.28 |
|
R3892:Pcdhga10
|
UTSW |
18 |
37,882,534 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4871:Pcdhga10
|
UTSW |
18 |
37,881,253 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5269:Pcdhga10
|
UTSW |
18 |
37,881,747 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5354:Pcdhga10
|
UTSW |
18 |
37,881,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5361:Pcdhga10
|
UTSW |
18 |
37,880,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6555:Pcdhga10
|
UTSW |
18 |
37,882,488 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6910:Pcdhga10
|
UTSW |
18 |
37,881,285 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6993:Pcdhga10
|
UTSW |
18 |
37,882,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7379:Pcdhga10
|
UTSW |
18 |
37,880,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7980:Pcdhga10
|
UTSW |
18 |
37,881,645 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8838:Pcdhga10
|
UTSW |
18 |
37,881,952 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9135:Pcdhga10
|
UTSW |
18 |
37,880,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9266:Pcdhga10
|
UTSW |
18 |
37,881,814 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9341:Pcdhga10
|
UTSW |
18 |
37,880,532 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9343:Pcdhga10
|
UTSW |
18 |
37,880,532 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9494:Pcdhga10
|
UTSW |
18 |
37,882,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9789:Pcdhga10
|
UTSW |
18 |
37,882,363 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1177:Pcdhga10
|
UTSW |
18 |
37,881,648 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTCCAAAAGCTTAAAGCC -3'
(R):5'- ACCTACCTCTGGAGATGATGC -3'
Sequencing Primer
(F):5'- GCTTAAAGCCTCACAGTTCCGG -3'
(R):5'- TCTGGAGATGATGCGGACC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation