Incidental Mutation 'R5887:Pcdhga6'
| ID |
456190 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga6
|
| Ensembl Gene |
ENSMUSG00000103793 |
| Gene Name |
protocadherin gamma subfamily A, 6 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R5887 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37840154-37974923 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37841612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 444
(D444G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000192931]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000195823]
[ENSMUST00000195112]
[ENSMUST00000194544]
[ENSMUST00000194190]
[ENSMUST00000194418]
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000157868
|
| 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 damaging
Transcript: ENSMUST00000195823
AA Change: D444G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141803
Gene: ENSMUSG00000103793
AA Change: D444G
| 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: 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.0%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
C |
T |
6: 91,892,124 (GRCm39) |
Q129* |
probably null |
Het |
| Acad8 |
A |
T |
9: 26,890,620 (GRCm39) |
|
probably null |
Het |
| AK157302 |
T |
C |
13: 21,679,579 (GRCm39) |
I35T |
possibly damaging |
Het |
| Arfgef3 |
G |
T |
10: 18,483,413 (GRCm39) |
S1437* |
probably null |
Het |
| Calcrl |
A |
T |
2: 84,200,841 (GRCm39) |
W68R |
probably damaging |
Het |
| Cd200l1 |
T |
A |
16: 45,238,279 (GRCm39) |
L178F |
probably damaging |
Het |
| Cd59a |
A |
G |
2: 103,934,546 (GRCm39) |
R5G |
probably damaging |
Het |
| Chl1 |
C |
T |
6: 103,694,565 (GRCm39) |
A1091V |
probably benign |
Het |
| Copg1 |
T |
C |
6: 87,879,279 (GRCm39) |
F442L |
probably damaging |
Het |
| Creld1 |
T |
C |
6: 113,469,860 (GRCm39) |
*421Q |
probably null |
Het |
| Crocc2 |
T |
A |
1: 93,121,838 (GRCm39) |
H662Q |
possibly damaging |
Het |
| Csf2ra |
G |
A |
19: 61,215,766 (GRCm39) |
A13V |
possibly damaging |
Het |
| Cul3 |
T |
C |
1: 80,254,139 (GRCm39) |
T546A |
possibly damaging |
Het |
| Dnah8 |
C |
T |
17: 31,013,691 (GRCm39) |
P3811S |
probably damaging |
Het |
| Dock6 |
T |
A |
9: 21,731,690 (GRCm39) |
H1173L |
probably damaging |
Het |
| Dpysl4 |
T |
C |
7: 138,676,192 (GRCm39) |
I328T |
possibly damaging |
Het |
| Dspp |
G |
A |
5: 104,323,321 (GRCm39) |
G155R |
probably damaging |
Het |
| Fbxo33 |
A |
T |
12: 59,251,545 (GRCm39) |
C57* |
probably null |
Het |
| Frrs1 |
T |
A |
3: 116,690,399 (GRCm39) |
V14D |
probably benign |
Het |
| Gm13199 |
C |
T |
2: 5,867,113 (GRCm39) |
G96S |
unknown |
Het |
| Gpr155 |
A |
T |
2: 73,174,062 (GRCm39) |
C754* |
probably null |
Het |
| Gpr62 |
A |
T |
9: 106,342,814 (GRCm39) |
V38E |
probably damaging |
Het |
| Kcnt2 |
C |
A |
1: 140,353,104 (GRCm39) |
P271H |
probably damaging |
Het |
| Kpna3 |
C |
T |
14: 61,640,461 (GRCm39) |
V34I |
probably benign |
Het |
| Lamb1 |
C |
T |
12: 31,316,863 (GRCm39) |
Q71* |
probably null |
Het |
| Lipk |
T |
C |
19: 34,016,507 (GRCm39) |
I245T |
possibly damaging |
Het |
| Lrp1b |
T |
G |
2: 40,711,719 (GRCm39) |
N3281T |
possibly damaging |
Het |
| Lrp5 |
A |
C |
19: 3,654,094 (GRCm39) |
I1111S |
probably benign |
Het |
| Mmrn1 |
T |
C |
6: 60,964,058 (GRCm39) |
V1020A |
probably benign |
Het |
| Or4c107 |
G |
A |
2: 88,789,098 (GRCm39) |
C96Y |
possibly damaging |
Het |
| Or8b48 |
G |
A |
9: 38,493,080 (GRCm39) |
C169Y |
probably damaging |
Het |
| Or8g34 |
T |
C |
9: 39,372,787 (GRCm39) |
L17P |
probably damaging |
Het |
| Pcdha7 |
A |
T |
18: 37,108,960 (GRCm39) |
T662S |
probably damaging |
Het |
| Pkd2 |
T |
G |
5: 104,646,405 (GRCm39) |
D737E |
probably damaging |
Het |
| Plcd4 |
C |
T |
1: 74,590,249 (GRCm39) |
R161W |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,391,734 (GRCm39) |
Y1494C |
possibly damaging |
Het |
| Rad17 |
A |
C |
13: 100,770,369 (GRCm39) |
|
probably null |
Het |
| Rbm17 |
A |
T |
2: 11,590,485 (GRCm39) |
F390Y |
probably damaging |
Het |
| Rhod |
A |
T |
19: 4,489,315 (GRCm39) |
L22Q |
probably damaging |
Het |
| Serpina1f |
T |
C |
12: 103,656,046 (GRCm39) |
D394G |
possibly damaging |
Het |
| Serpina1f |
G |
A |
12: 103,659,890 (GRCm39) |
Q131* |
probably null |
Het |
| Spocd1 |
A |
T |
4: 129,842,752 (GRCm39) |
S56C |
probably damaging |
Het |
| St7l |
G |
A |
3: 104,782,244 (GRCm39) |
R207H |
probably benign |
Het |
| Tasor |
T |
A |
14: 27,188,254 (GRCm39) |
L900* |
probably null |
Het |
| Tbx18 |
T |
C |
9: 87,595,566 (GRCm39) |
D336G |
possibly damaging |
Het |
| Tfg |
A |
T |
16: 56,514,779 (GRCm39) |
Y135* |
probably null |
Het |
| Tjp2 |
A |
G |
19: 24,073,963 (GRCm39) |
L1108P |
probably benign |
Het |
| Tmem150c |
C |
A |
5: 100,243,524 (GRCm39) |
V8L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,746,789 (GRCm39) |
H4753Q |
probably benign |
Het |
| Tyw1 |
T |
A |
5: 130,354,540 (GRCm39) |
I589N |
probably damaging |
Het |
| Usp40 |
C |
T |
1: 87,927,592 (GRCm39) |
R139Q |
probably damaging |
Het |
| Zgrf1 |
A |
G |
3: 127,378,414 (GRCm39) |
Y174C |
probably damaging |
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 |
|
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 |
|
R8978:Pcdhga6
|
UTSW |
18 |
37,840,716 (GRCm39) |
missense |
probably benign |
0.42 |
|
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'- ATGGCCTGGTAATATGCTCC -3'
(R):5'- GGACACCAGTGATGGAGTTG -3'
Sequencing Primer
(F):5'- GGCCTGGTAATATGCTCCATATCAG -3'
(R):5'- CACCAGTGATGGAGTTGATGGAG -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation