Incidental Mutation 'R7728:Pcdhgb2'
ID |
595666 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhgb2
|
Ensembl Gene |
ENSMUSG00000102748 |
Gene Name |
protocadherin gamma subfamily B, 2 |
Synonyms |
|
MMRRC Submission |
045784-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R7728 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37822912-37974925 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37824260 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 417
(Y417C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000192931]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000195112]
[ENSMUST00000194418]
[ENSMUST00000194544]
|
AlphaFold |
Q91XX7 |
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 damaging
Transcript: ENSMUST00000195112
AA Change: Y417C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141449 Gene: ENSMUSG00000102748 AA Change: Y417C
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: 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: ENSMUST00000195163
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 99.0%
|
Validation Efficiency |
100% (66/66) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
G |
A |
9: 57,163,822 (GRCm39) |
P851S |
probably damaging |
Het |
2210408I21Rik |
T |
A |
13: 77,464,596 (GRCm39) |
L931Q |
possibly damaging |
Het |
Abcg3 |
T |
G |
5: 105,083,944 (GRCm39) |
I609L |
probably benign |
Het |
Acly |
A |
T |
11: 100,407,623 (GRCm39) |
F242L |
probably damaging |
Het |
Acly |
C |
T |
11: 100,410,513 (GRCm39) |
G155D |
probably benign |
Het |
Acsl5 |
T |
A |
19: 55,276,285 (GRCm39) |
L370* |
probably null |
Het |
Arhgef17 |
G |
A |
7: 100,579,275 (GRCm39) |
P558S |
probably benign |
Het |
Bhlha9 |
T |
A |
11: 76,563,915 (GRCm39) |
S181T |
possibly damaging |
Het |
Birc6 |
A |
G |
17: 74,929,100 (GRCm39) |
T2331A |
probably benign |
Het |
C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
Ccdc7b |
A |
T |
8: 129,799,171 (GRCm39) |
R83W |
unknown |
Het |
Churc1 |
T |
A |
12: 76,820,052 (GRCm39) |
N20K |
probably benign |
Het |
Clec9a |
T |
C |
6: 129,392,198 (GRCm39) |
S63P |
possibly damaging |
Het |
Cndp2 |
T |
A |
18: 84,690,202 (GRCm39) |
M247L |
probably benign |
Het |
Cpvl |
C |
T |
6: 53,902,275 (GRCm39) |
S329N |
probably benign |
Het |
Cracd |
T |
C |
5: 77,005,316 (GRCm39) |
V559A |
unknown |
Het |
Csmd1 |
A |
T |
8: 16,281,285 (GRCm39) |
W747R |
probably damaging |
Het |
Dhx40 |
A |
T |
11: 86,662,759 (GRCm39) |
D644E |
probably damaging |
Het |
Disp2 |
A |
T |
2: 118,621,961 (GRCm39) |
N898Y |
probably benign |
Het |
Dnah3 |
G |
A |
7: 119,538,051 (GRCm39) |
H666Y |
probably damaging |
Het |
Dnajc2 |
C |
T |
5: 21,975,538 (GRCm39) |
D222N |
possibly damaging |
Het |
Epha5 |
A |
T |
5: 84,215,267 (GRCm39) |
M826K |
possibly damaging |
Het |
Fam13a |
T |
C |
6: 58,931,284 (GRCm39) |
D432G |
possibly damaging |
Het |
Fkbp6 |
A |
G |
5: 135,368,398 (GRCm39) |
L276P |
probably damaging |
Het |
Gars1 |
G |
T |
6: 55,027,371 (GRCm39) |
W155L |
probably damaging |
Het |
Gm12258 |
C |
A |
11: 58,750,518 (GRCm39) |
H564Q |
unknown |
Het |
Gm3127 |
A |
G |
14: 15,425,832 (GRCm39) |
D79G |
possibly damaging |
Het |
H2-Q10 |
T |
A |
17: 35,781,735 (GRCm39) |
I119N |
probably damaging |
Het |
Harbi1 |
A |
G |
2: 91,542,626 (GRCm39) |
D29G |
possibly damaging |
Het |
Hp1bp3 |
T |
A |
4: 137,953,307 (GRCm39) |
M155K |
probably damaging |
Het |
Itpr3 |
T |
G |
17: 27,317,088 (GRCm39) |
M781R |
probably damaging |
Het |
Kat7 |
T |
C |
11: 95,190,907 (GRCm39) |
K101E |
probably benign |
Het |
Kif7 |
A |
G |
7: 79,360,478 (GRCm39) |
I299T |
possibly damaging |
Het |
Krt34 |
A |
G |
11: 99,930,811 (GRCm39) |
|
probably null |
Het |
Krt81 |
A |
G |
15: 101,358,087 (GRCm39) |
Y389H |
probably damaging |
Het |
Lrrc36 |
A |
T |
8: 106,176,130 (GRCm39) |
E168V |
probably benign |
Het |
Lrrk1 |
A |
G |
7: 65,912,463 (GRCm39) |
V1699A |
probably benign |
Het |
Mdh1b |
T |
A |
1: 63,754,429 (GRCm39) |
S380C |
probably benign |
Het |
Mlkl |
A |
G |
8: 112,060,251 (GRCm39) |
L45P |
probably damaging |
Het |
Mmp13 |
T |
A |
9: 7,274,004 (GRCm39) |
D159E |
probably benign |
Het |
Nanp |
A |
G |
2: 150,872,835 (GRCm39) |
V31A |
possibly damaging |
Het |
Nbeal1 |
T |
C |
1: 60,283,983 (GRCm39) |
S846P |
probably damaging |
Het |
Neb |
G |
A |
2: 52,073,311 (GRCm39) |
R5982C |
probably damaging |
Het |
Nebl |
G |
T |
2: 17,375,325 (GRCm39) |
F93L |
|
Het |
Or11h6 |
G |
A |
14: 50,879,849 (GRCm39) |
G31E |
probably benign |
Het |
Pcdhb11 |
A |
T |
18: 37,556,530 (GRCm39) |
N620I |
probably damaging |
Het |
Pwp2 |
T |
C |
10: 78,014,395 (GRCm39) |
T402A |
probably benign |
Het |
Ralgapb |
T |
C |
2: 158,324,423 (GRCm39) |
|
probably null |
Het |
Rexo4 |
G |
A |
2: 26,854,242 (GRCm39) |
A30V |
probably benign |
Het |
Rrs1 |
T |
A |
1: 9,616,623 (GRCm39) |
M292K |
possibly damaging |
Het |
Shroom3 |
C |
A |
5: 92,831,566 (GRCm39) |
P14Q |
possibly damaging |
Het |
Slc16a10 |
T |
A |
10: 39,916,754 (GRCm39) |
I383F |
probably damaging |
Het |
Slco1a8 |
C |
A |
6: 141,933,436 (GRCm39) |
E470* |
probably null |
Het |
Slk |
C |
A |
19: 47,609,255 (GRCm39) |
P736Q |
probably damaging |
Het |
St6galnac2 |
T |
A |
11: 116,570,811 (GRCm39) |
H259L |
probably benign |
Het |
Stambpl1 |
T |
G |
19: 34,213,721 (GRCm39) |
S317A |
possibly damaging |
Het |
Syvn1 |
A |
G |
19: 6,101,235 (GRCm39) |
T429A |
unknown |
Het |
Tbc1d9 |
A |
T |
8: 83,985,979 (GRCm39) |
E828V |
probably damaging |
Het |
Tmtc2 |
A |
C |
10: 105,107,358 (GRCm39) |
|
probably null |
Het |
Trmt11 |
A |
G |
10: 30,463,497 (GRCm39) |
I206T |
possibly damaging |
Het |
Trp53bp1 |
A |
C |
2: 121,038,380 (GRCm39) |
L1436R |
probably damaging |
Het |
Ttll5 |
C |
T |
12: 86,003,406 (GRCm39) |
R1095W |
probably benign |
Het |
Utp20 |
A |
G |
10: 88,634,203 (GRCm39) |
F831S |
probably damaging |
Het |
Vmn2r109 |
T |
A |
17: 20,773,117 (GRCm39) |
Q501H |
probably damaging |
Het |
Zcchc17 |
A |
G |
4: 130,230,812 (GRCm39) |
|
probably null |
Het |
Zfhx3 |
A |
G |
8: 109,678,201 (GRCm39) |
M3084V |
probably benign |
Het |
Zfp81 |
T |
C |
17: 33,555,791 (GRCm39) |
N12S |
possibly damaging |
Het |
|
Other mutations in Pcdhgb2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R2906:Pcdhgb2
|
UTSW |
18 |
37,823,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R3081:Pcdhgb2
|
UTSW |
18 |
37,824,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R3780:Pcdhgb2
|
UTSW |
18 |
37,824,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R4095:Pcdhgb2
|
UTSW |
18 |
37,824,003 (GRCm39) |
missense |
probably benign |
0.01 |
R4258:Pcdhgb2
|
UTSW |
18 |
37,825,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R4261:Pcdhgb2
|
UTSW |
18 |
37,824,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R4695:Pcdhgb2
|
UTSW |
18 |
37,825,375 (GRCm39) |
missense |
probably benign |
0.00 |
R4741:Pcdhgb2
|
UTSW |
18 |
37,824,737 (GRCm39) |
splice site |
probably null |
|
R4824:Pcdhgb2
|
UTSW |
18 |
37,823,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R4852:Pcdhgb2
|
UTSW |
18 |
37,825,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R4858:Pcdhgb2
|
UTSW |
18 |
37,825,153 (GRCm39) |
missense |
probably benign |
0.22 |
R4933:Pcdhgb2
|
UTSW |
18 |
37,825,267 (GRCm39) |
missense |
probably benign |
0.07 |
R5240:Pcdhgb2
|
UTSW |
18 |
37,824,103 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5791:Pcdhgb2
|
UTSW |
18 |
37,825,393 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5973:Pcdhgb2
|
UTSW |
18 |
37,823,560 (GRCm39) |
missense |
probably benign |
0.00 |
R6059:Pcdhgb2
|
UTSW |
18 |
37,823,078 (GRCm39) |
nonsense |
probably null |
|
R6217:Pcdhgb2
|
UTSW |
18 |
37,823,054 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6903:Pcdhgb2
|
UTSW |
18 |
37,825,223 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6953:Pcdhgb2
|
UTSW |
18 |
37,823,807 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7150:Pcdhgb2
|
UTSW |
18 |
37,825,300 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7214:Pcdhgb2
|
UTSW |
18 |
37,823,159 (GRCm39) |
missense |
probably damaging |
1.00 |
R7453:Pcdhgb2
|
UTSW |
18 |
37,824,068 (GRCm39) |
missense |
probably damaging |
0.96 |
R7754:Pcdhgb2
|
UTSW |
18 |
37,823,023 (GRCm39) |
missense |
probably benign |
0.23 |
R7846:Pcdhgb2
|
UTSW |
18 |
37,825,273 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8001:Pcdhgb2
|
UTSW |
18 |
37,823,687 (GRCm39) |
missense |
probably benign |
0.06 |
R8079:Pcdhgb2
|
UTSW |
18 |
37,823,816 (GRCm39) |
missense |
probably damaging |
1.00 |
R8438:Pcdhgb2
|
UTSW |
18 |
37,825,232 (GRCm39) |
missense |
probably benign |
0.20 |
R8873:Pcdhgb2
|
UTSW |
18 |
37,824,341 (GRCm39) |
missense |
probably damaging |
0.98 |
R9655:Pcdhgb2
|
UTSW |
18 |
37,823,285 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Pcdhgb2
|
UTSW |
18 |
37,825,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTACCAGAAGATTCTCCACTAGG -3'
(R):5'- GGAAATGAGGCCATTGGATCC -3'
Sequencing Primer
(F):5'- TAGGAACAGTCATCGCCTTG -3'
(R):5'- ATCCGGGTCAGAAGCACTG -3'
|
Posted On |
2019-11-12 |