Incidental Mutation 'R7152:Pcdhgb1'
| ID |
554223 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhgb1
|
| Ensembl Gene |
ENSMUSG00000103037 |
| Gene Name |
protocadherin gamma subfamily B, 1 |
| Synonyms |
|
| MMRRC Submission |
045254-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R7152 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37813325-37974923 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 37814854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 448
(H448Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141348
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000192931]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000194544]
|
| AlphaFold |
Q91XX8 |
| 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
AA Change: H448Q
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141348
Gene: ENSMUSG00000103037
AA Change: H448Q
| 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (53/53) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Btnl10 |
A |
G |
11: 58,813,223 (GRCm39) |
N284S |
probably benign |
Het |
| Casz1 |
C |
G |
4: 148,985,748 (GRCm39) |
|
probably benign |
Het |
| Cdkn2c |
A |
T |
4: 109,522,235 (GRCm39) |
F37I |
probably damaging |
Het |
| Cdyl2 |
T |
C |
8: 117,351,066 (GRCm39) |
K22E |
probably damaging |
Het |
| Cers1 |
T |
C |
8: 70,770,901 (GRCm39) |
W104R |
probably damaging |
Het |
| Cgrrf1 |
T |
A |
14: 47,090,934 (GRCm39) |
Y223* |
probably null |
Het |
| Cited2 |
C |
A |
10: 17,600,134 (GRCm39) |
N147K |
probably benign |
Het |
| Clip2 |
A |
T |
5: 134,525,095 (GRCm39) |
L904Q |
probably damaging |
Het |
| Cntln |
T |
C |
4: 84,802,937 (GRCm39) |
V79A |
possibly damaging |
Het |
| Cntnap1 |
C |
T |
11: 101,068,152 (GRCm39) |
R55W |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,455,384 (GRCm39) |
F477L |
|
Het |
| Ctnna2 |
T |
A |
6: 76,957,807 (GRCm39) |
T481S |
possibly damaging |
Het |
| Ddx17 |
T |
C |
15: 79,414,464 (GRCm39) |
T570A |
possibly damaging |
Het |
| Epha7 |
A |
G |
4: 28,935,826 (GRCm39) |
K483E |
possibly damaging |
Het |
| Eps8l2 |
A |
T |
7: 140,935,678 (GRCm39) |
I150F |
possibly damaging |
Het |
| Esyt1 |
A |
G |
10: 128,351,629 (GRCm39) |
S827P |
possibly damaging |
Het |
| Fbxl13 |
T |
A |
5: 21,787,065 (GRCm39) |
I291F |
possibly damaging |
Het |
| Foxd3 |
A |
C |
4: 99,545,562 (GRCm39) |
H234P |
probably benign |
Het |
| Ggta1 |
T |
A |
2: 35,292,711 (GRCm39) |
M199L |
probably benign |
Het |
| H3c13 |
A |
G |
3: 96,176,254 (GRCm39) |
D82G |
probably benign |
Het |
| Ighv5-15 |
T |
C |
12: 113,790,317 (GRCm39) |
E101G |
probably benign |
Het |
| Igkv8-18 |
T |
C |
6: 70,333,205 (GRCm39) |
L49P |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,371,368 (GRCm39) |
|
probably null |
Het |
| Klhl36 |
C |
T |
8: 120,596,953 (GRCm39) |
T218M |
probably benign |
Het |
| Ltn1 |
A |
G |
16: 87,224,529 (GRCm39) |
F65S |
probably damaging |
Het |
| Marchf3 |
A |
G |
18: 56,909,053 (GRCm39) |
V244A |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Ndst3 |
T |
A |
3: 123,346,305 (GRCm39) |
I642F |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,153,557 (GRCm39) |
D2456G |
probably damaging |
Het |
| Nphp1 |
A |
G |
2: 127,595,899 (GRCm39) |
M522T |
probably benign |
Het |
| Or51k1 |
T |
A |
7: 103,661,226 (GRCm39) |
M228L |
probably benign |
Het |
| Or8k33 |
C |
T |
2: 86,383,673 (GRCm39) |
S265N |
probably benign |
Het |
| Pam |
T |
A |
1: 97,813,465 (GRCm39) |
M322L |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,247,194 (GRCm39) |
|
probably null |
Het |
| Pgm3 |
A |
T |
9: 86,449,593 (GRCm39) |
D142E |
probably benign |
Het |
| Pomgnt2 |
C |
T |
9: 121,812,589 (GRCm39) |
G64D |
probably damaging |
Het |
| Sds |
A |
T |
5: 120,619,716 (GRCm39) |
|
probably null |
Het |
| Sirpb1b |
G |
T |
3: 15,607,230 (GRCm39) |
Q351K |
probably benign |
Het |
| Slc2a12 |
T |
A |
10: 22,541,453 (GRCm39) |
M436K |
probably benign |
Het |
| Slc9a5 |
G |
A |
8: 106,095,025 (GRCm39) |
G872D |
probably benign |
Het |
| Stxbp2 |
T |
G |
8: 3,682,583 (GRCm39) |
S57R |
probably benign |
Het |
| Sult2a6 |
T |
A |
7: 13,956,445 (GRCm39) |
D272V |
probably benign |
Het |
| Supt5 |
A |
G |
7: 28,023,325 (GRCm39) |
M318T |
probably benign |
Het |
| Tdpoz3 |
T |
C |
3: 93,733,772 (GRCm39) |
V149A |
probably damaging |
Het |
| Tead2 |
T |
A |
7: 44,869,871 (GRCm39) |
S124T |
possibly damaging |
Het |
| Tssc4 |
T |
A |
7: 142,624,139 (GRCm39) |
V149D |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,683,505 (GRCm39) |
A906T |
|
Het |
| Uspl1 |
A |
G |
5: 149,124,588 (GRCm39) |
T2A |
possibly damaging |
Het |
| Vmn1r124 |
G |
A |
7: 20,994,184 (GRCm39) |
P120L |
probably benign |
Het |
| Vmn1r37 |
T |
C |
6: 66,708,883 (GRCm39) |
Y170H |
probably benign |
Het |
| Vnn3 |
T |
A |
10: 23,727,513 (GRCm39) |
V11E |
possibly damaging |
Het |
| Zbtb7b |
C |
T |
3: 89,288,209 (GRCm39) |
R203H |
probably benign |
Het |
| Zfhx3 |
T |
C |
8: 109,674,839 (GRCm39) |
V1963A |
possibly damaging |
Het |
| Zfp324 |
C |
A |
7: 12,700,198 (GRCm39) |
A19E |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,325,888 (GRCm39) |
S784G |
probably benign |
Het |
|
| Other mutations in Pcdhgb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT1430001:Pcdhgb1
|
UTSW |
18 |
37,814,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4433:Pcdhgb1
|
UTSW |
18 |
37,814,304 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4599:Pcdhgb1
|
UTSW |
18 |
37,814,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4974:Pcdhgb1
|
UTSW |
18 |
37,815,425 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5214:Pcdhgb1
|
UTSW |
18 |
37,814,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5621:Pcdhgb1
|
UTSW |
18 |
37,815,222 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5981:Pcdhgb1
|
UTSW |
18 |
37,814,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6593:Pcdhgb1
|
UTSW |
18 |
37,815,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6666:Pcdhgb1
|
UTSW |
18 |
37,814,546 (GRCm39) |
nonsense |
probably null |
|
|
R6835:Pcdhgb1
|
UTSW |
18 |
37,813,553 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6992:Pcdhgb1
|
UTSW |
18 |
37,814,652 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7512:Pcdhgb1
|
UTSW |
18 |
37,815,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7583:Pcdhgb1
|
UTSW |
18 |
37,815,377 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8154:Pcdhgb1
|
UTSW |
18 |
37,815,596 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8513:Pcdhgb1
|
UTSW |
18 |
37,813,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8517:Pcdhgb1
|
UTSW |
18 |
37,815,117 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8725:Pcdhgb1
|
UTSW |
18 |
37,814,467 (GRCm39) |
nonsense |
probably null |
|
|
R8997:Pcdhgb1
|
UTSW |
18 |
37,814,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9092:Pcdhgb1
|
UTSW |
18 |
37,813,989 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9195:Pcdhgb1
|
UTSW |
18 |
37,814,157 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9350:Pcdhgb1
|
UTSW |
18 |
37,814,705 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Pcdhgb1
|
UTSW |
18 |
37,814,893 (GRCm39) |
missense |
probably benign |
0.24 |
|
Z1177:Pcdhgb1
|
UTSW |
18 |
37,815,387 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTAGTGATTGACAAGGCCC -3'
(R):5'- ACATTGGCACTGAGTGTGGG -3'
Sequencing Primer
(F):5'- GTTAGTGATTGACAAGGCCCTAAACC -3'
(R):5'- CTGCAGTGTCAGCTGGAAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation