Incidental Mutation 'R5354:Pcdhga10'
| ID |
424011 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga10
|
| Ensembl Gene |
ENSMUSG00000102222 |
| Gene Name |
protocadherin gamma subfamily A, 10 |
| Synonyms |
|
| MMRRC Submission |
042933-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R5354 (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 37881259 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 340
(D340G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141359
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000193404]
[ENSMUST00000192931]
[ENSMUST00000192535]
[ENSMUST00000194544]
[ENSMUST00000194418]
[ENSMUST00000195363]
[ENSMUST00000194190]
[ENSMUST00000193869]
[ENSMUST00000195112]
[ENSMUST00000192511]
[ENSMUST00000193414]
[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 damaging
Transcript: ENSMUST00000193404
AA Change: D340G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141359
Gene: ENSMUSG00000102222
AA Change: D340G
| 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: 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: 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: 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: 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: 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: 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: 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: 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 |
0.7509 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
100% (80/80) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
A |
G |
16: 14,436,535 (GRCm39) |
K196R |
probably benign |
Het |
| Ablim1 |
T |
C |
19: 57,119,355 (GRCm39) |
E243G |
probably benign |
Het |
| Acat1 |
T |
A |
9: 53,500,483 (GRCm39) |
E271V |
possibly damaging |
Het |
| Aco1 |
T |
C |
4: 40,180,290 (GRCm39) |
|
probably null |
Het |
| Adam22 |
C |
A |
5: 8,140,182 (GRCm39) |
G202W |
probably damaging |
Het |
| Agbl3 |
T |
A |
6: 34,791,687 (GRCm39) |
H596Q |
probably benign |
Het |
| Anxa7 |
A |
G |
14: 20,514,977 (GRCm39) |
L177P |
possibly damaging |
Het |
| Atp11a |
A |
T |
8: 12,856,753 (GRCm39) |
N48I |
probably damaging |
Het |
| Bcas1 |
T |
A |
2: 170,191,316 (GRCm39) |
N492I |
possibly damaging |
Het |
| Bclaf1 |
A |
G |
10: 20,209,278 (GRCm39) |
Y498C |
probably damaging |
Het |
| Bltp3a |
G |
A |
17: 28,106,489 (GRCm39) |
S1005N |
probably benign |
Het |
| Bod1l |
A |
C |
5: 41,988,880 (GRCm39) |
V409G |
probably damaging |
Het |
| Ccdc170 |
G |
A |
10: 4,484,188 (GRCm39) |
C338Y |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Ckap2 |
A |
C |
8: 22,667,581 (GRCm39) |
N93K |
probably damaging |
Het |
| Clca3a1 |
A |
T |
3: 144,442,766 (GRCm39) |
S759R |
possibly damaging |
Het |
| Coro1c |
A |
T |
5: 113,984,226 (GRCm39) |
I347N |
possibly damaging |
Het |
| Cpox |
A |
G |
16: 58,491,205 (GRCm39) |
T139A |
probably damaging |
Het |
| Cyp4a12b |
C |
A |
4: 115,290,661 (GRCm39) |
|
probably null |
Het |
| Dctn1 |
T |
G |
6: 83,160,108 (GRCm39) |
V116G |
possibly damaging |
Het |
| Dhx38 |
A |
G |
8: 110,282,378 (GRCm39) |
V683A |
probably damaging |
Het |
| Dnah12 |
G |
A |
14: 26,496,299 (GRCm39) |
|
probably null |
Het |
| Dnajb7 |
T |
C |
15: 81,292,208 (GRCm39) |
E43G |
probably damaging |
Het |
| Dsc1 |
A |
T |
18: 20,220,632 (GRCm39) |
V714E |
probably damaging |
Het |
| Dusp29 |
G |
A |
14: 21,727,091 (GRCm39) |
R186W |
probably benign |
Het |
| Egfem1 |
T |
C |
3: 29,136,361 (GRCm39) |
|
probably null |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Fmo1 |
T |
C |
1: 162,657,714 (GRCm39) |
T476A |
probably benign |
Het |
| Gm10237 |
T |
C |
16: 35,741,099 (GRCm39) |
|
noncoding transcript |
Het |
| Gm14496 |
A |
G |
2: 181,642,602 (GRCm39) |
S758G |
probably damaging |
Het |
| Gpat2 |
T |
A |
2: 127,270,643 (GRCm39) |
L97Q |
probably damaging |
Het |
| Gpr162 |
T |
C |
6: 124,836,600 (GRCm39) |
D357G |
probably benign |
Het |
| Hax1 |
A |
T |
3: 89,905,262 (GRCm39) |
D34E |
probably damaging |
Het |
| Hmgcr |
C |
T |
13: 96,791,404 (GRCm39) |
V97M |
probably benign |
Het |
| Hsd3b2 |
T |
C |
3: 98,619,631 (GRCm39) |
T105A |
probably benign |
Het |
| Ints1 |
A |
G |
5: 139,752,183 (GRCm39) |
|
probably null |
Het |
| Islr |
T |
C |
9: 58,064,895 (GRCm39) |
E204G |
probably damaging |
Het |
| Lrrc36 |
A |
G |
8: 106,151,996 (GRCm39) |
N60D |
probably damaging |
Het |
| Maf1 |
T |
C |
15: 76,237,330 (GRCm39) |
|
probably benign |
Het |
| Mrgprb4 |
T |
A |
7: 47,848,077 (GRCm39) |
R284W |
probably benign |
Het |
| Myh4 |
A |
T |
11: 67,146,551 (GRCm39) |
N1508I |
possibly damaging |
Het |
| Nufip2 |
A |
G |
11: 77,577,103 (GRCm39) |
H17R |
unknown |
Het |
| Oasl1 |
A |
T |
5: 115,075,055 (GRCm39) |
I372L |
probably damaging |
Het |
| Or5ae1 |
T |
A |
7: 84,565,357 (GRCm39) |
Y123* |
probably null |
Het |
| Or6p1 |
T |
C |
1: 174,258,252 (GRCm39) |
L86P |
probably damaging |
Het |
| Pald1 |
A |
T |
10: 61,184,440 (GRCm39) |
Y226N |
probably damaging |
Het |
| Pcdhb13 |
G |
T |
18: 37,577,844 (GRCm39) |
G741C |
probably damaging |
Het |
| Pclo |
C |
A |
5: 14,728,822 (GRCm39) |
|
probably benign |
Het |
| Pcsk4 |
G |
T |
10: 80,159,523 (GRCm39) |
N416K |
probably damaging |
Het |
| Pde10a |
C |
A |
17: 9,180,812 (GRCm39) |
R398S |
probably damaging |
Het |
| Plin1 |
T |
A |
7: 79,375,469 (GRCm39) |
T227S |
possibly damaging |
Het |
| Pnpt1 |
A |
G |
11: 29,104,166 (GRCm39) |
D542G |
probably damaging |
Het |
| Ppp4r3b |
T |
A |
11: 29,161,646 (GRCm39) |
D673E |
probably benign |
Het |
| Prr18 |
C |
A |
17: 8,559,892 (GRCm39) |
P16Q |
probably damaging |
Het |
| Psmc3 |
T |
A |
2: 90,889,698 (GRCm39) |
Y440N |
probably damaging |
Het |
| Rassf5 |
T |
C |
1: 131,108,385 (GRCm39) |
I232V |
probably benign |
Het |
| Rims1 |
T |
A |
1: 22,577,592 (GRCm39) |
D218V |
probably damaging |
Het |
| Skint10 |
T |
C |
4: 112,568,790 (GRCm39) |
N309S |
possibly damaging |
Het |
| Slc6a1 |
T |
C |
6: 114,279,584 (GRCm39) |
M121T |
possibly damaging |
Het |
| Slit3 |
A |
G |
11: 35,566,740 (GRCm39) |
D1004G |
probably damaging |
Het |
| Snap91 |
C |
T |
9: 86,717,177 (GRCm39) |
V215I |
possibly damaging |
Het |
| Son |
T |
C |
16: 91,452,627 (GRCm39) |
L458S |
probably damaging |
Het |
| St18 |
C |
T |
1: 6,914,395 (GRCm39) |
A782V |
probably damaging |
Het |
| Synpo |
A |
G |
18: 60,735,303 (GRCm39) |
|
probably null |
Het |
| Thbs3 |
A |
G |
3: 89,128,684 (GRCm39) |
D458G |
probably damaging |
Het |
| Tpr |
C |
T |
1: 150,321,675 (GRCm39) |
R3C |
probably damaging |
Het |
| Trp63 |
A |
G |
16: 25,503,105 (GRCm39) |
|
probably null |
Het |
| Vmn1r27 |
C |
A |
6: 58,192,581 (GRCm39) |
R141L |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,945,484 (GRCm39) |
I699V |
probably benign |
Het |
| Xkr6 |
A |
G |
14: 64,056,353 (GRCm39) |
D88G |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,379,050 (GRCm39) |
|
probably benign |
Het |
| Zbtb7b |
T |
C |
3: 89,286,913 (GRCm39) |
|
probably benign |
Het |
| Zfp618 |
A |
T |
4: 62,998,265 (GRCm39) |
D33V |
probably 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 |
|
R4952:Pcdhga10
|
UTSW |
18 |
37,880,213 (GRCm39) |
intron |
probably benign |
|
|
R5269:Pcdhga10
|
UTSW |
18 |
37,881,747 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- ATATGCATTCCGAAAATCGCTGG -3'
(R):5'- ATCAAGGGCTCTTTGTGTCAC -3'
Sequencing Primer
(F):5'- TCGCTGGACACACAATTGTC -3'
(R):5'- AAGGGCTCTTTGTGTCACTAGCC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation