Incidental Mutation 'R8978:Pcdhga6'
| ID |
683604 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga6
|
| Ensembl Gene |
ENSMUSG00000103793 |
| Gene Name |
protocadherin gamma subfamily A, 6 |
| Synonyms |
|
| MMRRC Submission |
068811-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R8978 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37840154-37974923 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37840716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 145
(N145K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000192931]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000195823]
[ENSMUST00000194418]
[ENSMUST00000194544]
[ENSMUST00000195112]
|
| AlphaFold |
Q91XY2 |
| 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: 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: 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: 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: 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: ENSMUST00000193984
|
| 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: ENSMUST00000195823
AA Change: N145K
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141803
Gene: ENSMUSG00000103793
AA Change: N145K
| 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: 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
99% (66/67) |
| 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 |
|---|
| Abcg4 |
A |
G |
9: 44,192,395 (GRCm39) |
F224L |
probably benign |
Het |
| Adam39 |
A |
G |
8: 41,278,707 (GRCm39) |
D366G |
probably damaging |
Het |
| Adamts14 |
T |
A |
10: 61,038,795 (GRCm39) |
E902V |
probably damaging |
Het |
| Adamts6 |
T |
C |
13: 104,512,247 (GRCm39) |
C490R |
probably damaging |
Het |
| Btbd3 |
T |
C |
2: 138,126,055 (GRCm39) |
V413A |
possibly damaging |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cdadc1 |
G |
T |
14: 59,813,197 (GRCm39) |
N403K |
probably damaging |
Het |
| Cdc27 |
C |
T |
11: 104,399,211 (GRCm39) |
V734I |
possibly damaging |
Het |
| Celf3 |
A |
G |
3: 94,392,667 (GRCm39) |
D122G |
probably benign |
Het |
| Chgb |
T |
C |
2: 132,634,498 (GRCm39) |
S147P |
probably benign |
Het |
| Col9a1 |
G |
A |
1: 24,278,396 (GRCm39) |
G808D |
probably damaging |
Het |
| Cpne7 |
A |
G |
8: 123,861,177 (GRCm39) |
|
probably null |
Het |
| Crhr1 |
T |
C |
11: 104,064,480 (GRCm39) |
F330S |
possibly damaging |
Het |
| Csmd1 |
A |
C |
8: 15,971,056 (GRCm39) |
N3086K |
probably benign |
Het |
| Ctnnb1 |
A |
G |
9: 120,786,650 (GRCm39) |
D624G |
probably damaging |
Het |
| Dcaf8 |
G |
A |
1: 172,022,124 (GRCm39) |
R554H |
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 130,639,611 (GRCm39) |
Y50H |
possibly damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,055,679 (GRCm39) |
L2573P |
probably benign |
Het |
| Ebf2 |
G |
A |
14: 67,661,548 (GRCm39) |
G559S |
probably benign |
Het |
| Fancd2 |
A |
G |
6: 113,562,507 (GRCm39) |
|
probably benign |
Het |
| Fkbp10 |
A |
T |
11: 100,313,936 (GRCm39) |
I427F |
probably benign |
Het |
| Gipc1 |
T |
C |
8: 84,389,046 (GRCm39) |
|
probably null |
Het |
| Gm1110 |
A |
T |
9: 26,807,095 (GRCm39) |
|
probably benign |
Het |
| Gsdmc3 |
A |
G |
15: 63,731,455 (GRCm39) |
L359P |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,291,341 (GRCm39) |
D3897G |
probably benign |
Het |
| Ift122 |
T |
A |
6: 115,902,769 (GRCm39) |
M1117K |
possibly damaging |
Het |
| Itgbl1 |
A |
T |
14: 124,209,617 (GRCm39) |
D456V |
probably damaging |
Het |
| Itprid2 |
T |
A |
2: 79,491,257 (GRCm39) |
L1014Q |
probably damaging |
Het |
| Kctd1 |
G |
T |
18: 15,119,491 (GRCm39) |
L675I |
|
Het |
| Kyat3 |
C |
T |
3: 142,443,596 (GRCm39) |
T403M |
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,834,164 (GRCm39) |
T1442A |
probably benign |
Het |
| Mier2 |
A |
C |
10: 79,376,790 (GRCm39) |
S45R |
unknown |
Het |
| Mon2 |
T |
A |
10: 122,871,469 (GRCm39) |
K383* |
probably null |
Het |
| Mroh4 |
G |
T |
15: 74,499,473 (GRCm39) |
T136K |
probably benign |
Het |
| Mtif3 |
A |
T |
5: 146,895,846 (GRCm39) |
S80R |
probably benign |
Het |
| Myh2 |
A |
C |
11: 67,068,188 (GRCm39) |
E272A |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,080,323 (GRCm39) |
Q1179R |
probably damaging |
Het |
| Nfatc3 |
G |
A |
8: 106,835,402 (GRCm39) |
C916Y |
probably benign |
Het |
| Or13a17 |
A |
T |
7: 140,271,642 (GRCm39) |
T275S |
probably benign |
Het |
| Or2w2 |
T |
A |
13: 21,758,279 (GRCm39) |
T116S |
probably benign |
Het |
| Or7g21 |
T |
A |
9: 19,032,582 (GRCm39) |
C107* |
probably null |
Het |
| Orc2 |
T |
C |
1: 58,511,499 (GRCm39) |
D370G |
possibly damaging |
Het |
| Pate7 |
A |
T |
9: 35,688,069 (GRCm39) |
|
probably benign |
Het |
| Pih1d2 |
A |
G |
9: 50,536,232 (GRCm39) |
M296V |
probably benign |
Het |
| Prickle4 |
A |
T |
17: 47,999,772 (GRCm39) |
|
probably benign |
Het |
| Rabl6 |
G |
A |
2: 25,477,541 (GRCm39) |
P303L |
probably damaging |
Het |
| Rara |
T |
G |
11: 98,862,595 (GRCm39) |
I332S |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,090,512 (GRCm39) |
F3449L |
possibly damaging |
Het |
| Rhoq |
T |
C |
17: 87,271,767 (GRCm39) |
L61P |
|
Het |
| Rigi |
A |
G |
4: 40,239,650 (GRCm39) |
I16T |
probably damaging |
Het |
| Slc6a15 |
G |
A |
10: 103,230,953 (GRCm39) |
W226* |
probably null |
Het |
| Spef2 |
A |
T |
15: 9,725,263 (GRCm39) |
S165T |
possibly damaging |
Het |
| Stab2 |
T |
C |
10: 86,785,782 (GRCm39) |
N620S |
possibly damaging |
Het |
| Suds3 |
A |
G |
5: 117,232,973 (GRCm39) |
|
probably null |
Het |
| Sult1b1 |
A |
G |
5: 87,682,900 (GRCm39) |
I15T |
possibly damaging |
Het |
| Synm |
C |
A |
7: 67,384,672 (GRCm39) |
V997L |
probably damaging |
Het |
| Tgfbi |
C |
A |
13: 56,778,391 (GRCm39) |
D387E |
probably benign |
Het |
| Thrb |
T |
C |
14: 17,981,886 (GRCm38) |
C4R |
possibly damaging |
Het |
| Tk2 |
A |
G |
8: 104,957,809 (GRCm39) |
V179A |
possibly damaging |
Het |
| Trim25 |
T |
C |
11: 88,907,027 (GRCm39) |
V462A |
probably benign |
Het |
| Tub |
T |
C |
7: 108,629,393 (GRCm39) |
Y483H |
probably damaging |
Het |
| Vav1 |
A |
G |
17: 57,603,710 (GRCm39) |
T131A |
probably benign |
Het |
| Vav1 |
A |
G |
17: 57,631,650 (GRCm39) |
T781A |
probably benign |
Het |
| Zbtb34 |
A |
G |
2: 33,301,048 (GRCm39) |
S498P |
possibly damaging |
Het |
| Zfp568 |
T |
A |
7: 29,716,683 (GRCm39) |
H194Q |
probably benign |
Het |
| Zfp683 |
A |
T |
4: 133,781,239 (GRCm39) |
Q18L |
probably benign |
Het |
|
| Other mutations in Pcdhga6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R3551:Pcdhga6
|
UTSW |
18 |
37,841,270 (GRCm39) |
missense |
probably benign |
0.42 |
|
R3552:Pcdhga6
|
UTSW |
18 |
37,841,270 (GRCm39) |
missense |
probably benign |
0.42 |
|
R3688:Pcdhga6
|
UTSW |
18 |
37,841,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3713:Pcdhga6
|
UTSW |
18 |
37,840,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3832:Pcdhga6
|
UTSW |
18 |
37,841,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3833:Pcdhga6
|
UTSW |
18 |
37,841,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4607:Pcdhga6
|
UTSW |
18 |
37,841,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5594:Pcdhga6
|
UTSW |
18 |
37,841,581 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5608:Pcdhga6
|
UTSW |
18 |
37,840,514 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5887:Pcdhga6
|
UTSW |
18 |
37,841,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6188:Pcdhga6
|
UTSW |
18 |
37,841,324 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6276:Pcdhga6
|
UTSW |
18 |
37,840,697 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6494:Pcdhga6
|
UTSW |
18 |
37,841,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6619:Pcdhga6
|
UTSW |
18 |
37,842,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7145:Pcdhga6
|
UTSW |
18 |
37,840,781 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7211:Pcdhga6
|
UTSW |
18 |
37,842,173 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7313:Pcdhga6
|
UTSW |
18 |
37,841,072 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7425:Pcdhga6
|
UTSW |
18 |
37,841,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7893:Pcdhga6
|
UTSW |
18 |
37,841,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7911:Pcdhga6
|
UTSW |
18 |
37,842,479 (GRCm39) |
missense |
not run |
|
|
R8257:Pcdhga6
|
UTSW |
18 |
37,841,868 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8897:Pcdhga6
|
UTSW |
18 |
37,841,642 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8938:Pcdhga6
|
UTSW |
18 |
37,841,562 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8954:Pcdhga6
|
UTSW |
18 |
37,841,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9009:Pcdhga6
|
UTSW |
18 |
37,841,878 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9101:Pcdhga6
|
UTSW |
18 |
37,841,393 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9265:Pcdhga6
|
UTSW |
18 |
37,841,102 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9377:Pcdhga6
|
UTSW |
18 |
37,841,570 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9381:Pcdhga6
|
UTSW |
18 |
37,841,371 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9393:Pcdhga6
|
UTSW |
18 |
37,840,212 (GRCm39) |
start gained |
probably benign |
|
|
Z1177:Pcdhga6
|
UTSW |
18 |
37,841,494 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGCTTTTCTCCCTAAACCAG -3'
(R):5'- TGGTGAACGGCTTCCTCTTC -3'
Sequencing Primer
(F):5'- GCTTTTCTCCCTAAACCAGCGAAG -3'
(R):5'- GAACGGCTTCCTCTTCCCTGTC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation