Incidental Mutation 'R5269:Pcdhga10'
| ID |
400136 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga10
|
| Ensembl Gene |
ENSMUSG00000102222 |
| Gene Name |
protocadherin gamma subfamily A, 10 |
| Synonyms |
|
| MMRRC Submission |
042834-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R5269 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37880069-37974923 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37881747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 503
(I503V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141359
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000193404]
[ENSMUST00000192511]
[ENSMUST00000193414]
[ENSMUST00000192535]
[ENSMUST00000194544]
[ENSMUST00000192931]
[ENSMUST00000195363]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000193869]
[ENSMUST00000195112]
[ENSMUST00000194928]
[ENSMUST00000195823]
|
| 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: ENSMUST00000180922
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180931
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193404
AA Change: I503V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000141359
Gene: ENSMUSG00000102222
AA Change: I503V
| 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 |
noncoding transcript
Transcript: ENSMUST00000192501
|
| 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: 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: 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: 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: 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: 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: 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: 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 |
|
| Meta Mutation Damage Score |
0.1282 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.9%
|
| Validation Efficiency |
100% (71/71) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,595,717 (GRCm39) |
S357P |
possibly damaging |
Het |
| Adam39 |
A |
G |
8: 41,279,018 (GRCm39) |
I470V |
probably benign |
Het |
| Agrn |
A |
T |
4: 156,253,447 (GRCm39) |
C1708S |
probably benign |
Het |
| Agtpbp1 |
A |
G |
13: 59,621,557 (GRCm39) |
I42T |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 53,186,626 (GRCm39) |
C1347R |
probably damaging |
Het |
| Antxr1 |
A |
G |
6: 87,157,165 (GRCm39) |
L452P |
probably damaging |
Het |
| Arhgef33 |
T |
A |
17: 80,677,704 (GRCm39) |
V417D |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,462,688 (GRCm39) |
I817M |
possibly damaging |
Het |
| Casp4 |
A |
T |
9: 5,321,521 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
T |
C |
1: 104,861,882 (GRCm39) |
Y21H |
possibly damaging |
Het |
| Cdr2 |
C |
T |
7: 120,557,557 (GRCm39) |
V323M |
possibly damaging |
Het |
| Cebpa |
G |
A |
7: 34,819,283 (GRCm39) |
R147H |
probably benign |
Het |
| Cetn4 |
C |
A |
3: 37,364,118 (GRCm39) |
E31* |
probably null |
Het |
| Cobll1 |
G |
A |
2: 64,964,115 (GRCm39) |
Q189* |
probably null |
Het |
| Colec12 |
A |
G |
18: 9,846,825 (GRCm39) |
T74A |
possibly damaging |
Het |
| Crisp4 |
A |
G |
1: 18,198,934 (GRCm39) |
S124P |
probably damaging |
Het |
| Eddm3b |
T |
A |
14: 51,354,178 (GRCm39) |
D55E |
probably damaging |
Het |
| Elmo1 |
C |
A |
13: 20,633,656 (GRCm39) |
N439K |
probably benign |
Het |
| Fabp12 |
T |
C |
3: 10,315,167 (GRCm39) |
N60S |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,178,704 (GRCm39) |
H1452L |
probably benign |
Het |
| Flacc1 |
A |
G |
1: 58,730,919 (GRCm39) |
S46P |
possibly damaging |
Het |
| Flrt2 |
T |
C |
12: 95,746,712 (GRCm39) |
V350A |
possibly damaging |
Het |
| Ganab |
T |
C |
19: 8,889,301 (GRCm39) |
F626S |
probably damaging |
Het |
| Ghr |
T |
C |
15: 3,349,561 (GRCm39) |
Y539C |
probably benign |
Het |
| Gm6871 |
T |
C |
7: 41,197,525 (GRCm39) |
T112A |
probably damaging |
Het |
| Gm7133 |
T |
A |
1: 97,110,848 (GRCm39) |
|
noncoding transcript |
Het |
| Gon4l |
A |
C |
3: 88,802,835 (GRCm39) |
I1149L |
probably benign |
Het |
| Greb1l |
G |
A |
18: 10,511,409 (GRCm39) |
D45N |
probably benign |
Het |
| H2-K2 |
A |
G |
17: 34,215,989 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
C |
T |
7: 55,818,618 (GRCm39) |
R2770* |
probably null |
Het |
| Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
| Itsn2 |
A |
G |
12: 4,683,553 (GRCm39) |
|
probably benign |
Het |
| Klb |
A |
G |
5: 65,506,140 (GRCm39) |
D129G |
probably damaging |
Het |
| Klf1 |
A |
G |
8: 85,629,969 (GRCm39) |
I265V |
probably benign |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Map3k10 |
T |
C |
7: 27,357,957 (GRCm39) |
E607G |
probably benign |
Het |
| Melk |
C |
T |
4: 44,363,730 (GRCm39) |
T592M |
probably damaging |
Het |
| Mroh6 |
A |
G |
15: 75,757,639 (GRCm39) |
L457P |
probably damaging |
Het |
| Mrpl21 |
T |
A |
19: 3,337,012 (GRCm39) |
C128S |
probably damaging |
Het |
| Or51f23 |
T |
C |
7: 102,453,327 (GRCm39) |
V214A |
probably benign |
Het |
| Paqr4 |
G |
T |
17: 23,957,187 (GRCm39) |
H105Q |
probably damaging |
Het |
| Pds5a |
T |
C |
5: 65,821,271 (GRCm39) |
N151S |
probably damaging |
Het |
| Pif1 |
A |
G |
9: 65,499,111 (GRCm39) |
T444A |
possibly damaging |
Het |
| Ppp2r3d |
T |
C |
9: 101,031,064 (GRCm39) |
R851G |
probably damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Ros1 |
T |
G |
10: 51,927,104 (GRCm39) |
Q2172P |
probably damaging |
Het |
| Rpe65 |
A |
G |
3: 159,309,984 (GRCm39) |
T86A |
probably benign |
Het |
| Rpl18a |
G |
A |
8: 71,348,932 (GRCm39) |
R15C |
possibly damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,108,684 (GRCm39) |
K258R |
probably benign |
Het |
| Ska3 |
T |
A |
14: 58,059,573 (GRCm39) |
E84V |
possibly damaging |
Het |
| Slc25a40 |
T |
A |
5: 8,497,409 (GRCm39) |
|
probably null |
Het |
| Slf1 |
A |
T |
13: 77,252,700 (GRCm39) |
S274T |
probably benign |
Het |
| Spata21 |
A |
T |
4: 140,830,332 (GRCm39) |
Q267H |
probably damaging |
Het |
| Strbp |
A |
T |
2: 37,517,455 (GRCm39) |
W207R |
possibly damaging |
Het |
| Taf6l |
T |
C |
19: 8,752,326 (GRCm39) |
E454G |
probably damaging |
Het |
| Tcam1 |
C |
A |
11: 106,176,353 (GRCm39) |
L360I |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,922,582 (GRCm39) |
R2465H |
possibly damaging |
Het |
| Trim66 |
T |
A |
7: 109,056,797 (GRCm39) |
Y1120F |
probably benign |
Het |
| Trp53 |
T |
A |
11: 69,480,031 (GRCm39) |
M243K |
probably damaging |
Het |
| Ttl |
T |
A |
2: 128,910,831 (GRCm39) |
C72S |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,539,240 (GRCm39) |
V34582A |
probably benign |
Het |
| Uqcrh |
T |
C |
4: 115,927,101 (GRCm39) |
T31A |
possibly damaging |
Het |
| Usp40 |
A |
G |
1: 87,923,504 (GRCm39) |
C256R |
probably benign |
Het |
| Vmn1r168 |
A |
G |
7: 23,240,839 (GRCm39) |
E232G |
probably benign |
Het |
| Wdr72 |
A |
T |
9: 74,064,653 (GRCm39) |
I562F |
probably damaging |
Het |
| Wnt4 |
A |
G |
4: 137,005,061 (GRCm39) |
N24S |
probably benign |
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 |
|
R4952:Pcdhga10
|
UTSW |
18 |
37,880,213 (GRCm39) |
intron |
probably benign |
|
|
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'- CAAAGCTGACTTCACTCTGC -3'
(R):5'- GCATGGTGGGGTACAAGATTTC -3'
Sequencing Primer
(F):5'- GTGGCAGATATCAACGACAAC -3'
(R):5'- CTGGAGAGTTGTCATTTTGATCCAGC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation