Incidental Mutation 'R3081:Pcdhgb2'
ID |
477666 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhgb2
|
Ensembl Gene |
ENSMUSG00000102748 |
Gene Name |
protocadherin gamma subfamily B, 2 |
Synonyms |
|
MMRRC Submission |
040571-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R3081 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37822912-37974925 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37824566 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 519
(F519S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000192931]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000195112]
[ENSMUST00000194544]
[ENSMUST00000194190]
[ENSMUST00000194418]
|
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 |
noncoding transcript
Transcript: ENSMUST00000193631
|
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: ENSMUST00000195112
AA Change: F519S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141449 Gene: ENSMUSG00000102748 AA Change: F519S
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195163
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
100% (58/58) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aamdc |
T |
A |
7: 97,214,432 (GRCm39) |
T48S |
probably benign |
Het |
Abcc3 |
T |
A |
11: 94,247,802 (GRCm39) |
L1230F |
probably damaging |
Het |
Abcf3 |
T |
A |
16: 20,378,114 (GRCm39) |
I542N |
probably benign |
Het |
Als2 |
A |
G |
1: 59,226,508 (GRCm39) |
L932P |
probably damaging |
Het |
Arhgap45 |
G |
A |
10: 79,862,281 (GRCm39) |
R583H |
probably damaging |
Het |
Asl |
T |
C |
5: 130,042,245 (GRCm39) |
Y277C |
probably damaging |
Het |
Bcl9 |
A |
T |
3: 97,112,989 (GRCm39) |
N1155K |
possibly damaging |
Het |
Carm1 |
C |
A |
9: 21,490,692 (GRCm39) |
|
probably null |
Het |
Cdkn2aip |
T |
C |
8: 48,164,532 (GRCm39) |
K394E |
probably damaging |
Het |
Cfap70 |
A |
G |
14: 20,470,830 (GRCm39) |
Y472H |
probably damaging |
Het |
Cfap77 |
T |
A |
2: 28,852,662 (GRCm39) |
K203N |
probably damaging |
Het |
Cldn14 |
T |
C |
16: 93,716,192 (GRCm39) |
K218R |
probably damaging |
Het |
Coro6 |
T |
C |
11: 77,359,738 (GRCm39) |
F336S |
probably damaging |
Het |
Derl1 |
C |
A |
15: 57,739,007 (GRCm39) |
|
probably benign |
Het |
Dixdc1 |
G |
A |
9: 50,622,259 (GRCm39) |
A25V |
probably damaging |
Het |
Dock2 |
T |
A |
11: 34,181,610 (GRCm39) |
H1651L |
probably benign |
Het |
Dock6 |
A |
G |
9: 21,750,496 (GRCm39) |
F473L |
possibly damaging |
Het |
Dzip3 |
T |
C |
16: 48,747,921 (GRCm39) |
H1163R |
probably damaging |
Het |
Efcab9 |
T |
C |
11: 32,473,689 (GRCm39) |
D35G |
probably benign |
Het |
Evpl |
T |
C |
11: 116,111,678 (GRCm39) |
D2004G |
probably damaging |
Het |
Faiml |
A |
G |
9: 99,114,527 (GRCm39) |
C121R |
probably damaging |
Het |
Fastkd3 |
T |
C |
13: 68,732,987 (GRCm39) |
V436A |
probably benign |
Het |
Fbxl5 |
A |
G |
5: 43,908,222 (GRCm39) |
Y660H |
probably damaging |
Het |
Glt8d1 |
T |
C |
14: 30,728,617 (GRCm39) |
V15A |
probably benign |
Het |
Gpr25 |
A |
C |
1: 136,187,623 (GRCm39) |
I330S |
possibly damaging |
Het |
Hdac5 |
A |
T |
11: 102,096,436 (GRCm39) |
V257E |
probably damaging |
Het |
Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
Lrriq1 |
T |
A |
10: 102,980,750 (GRCm39) |
S1462C |
probably damaging |
Het |
Mgat3 |
A |
G |
15: 80,096,055 (GRCm39) |
D294G |
probably benign |
Het |
Mylk2 |
A |
G |
2: 152,761,274 (GRCm39) |
N459S |
probably benign |
Het |
Myo3b |
A |
C |
2: 70,086,927 (GRCm39) |
|
probably benign |
Het |
Naip6 |
T |
C |
13: 100,436,961 (GRCm39) |
T521A |
probably benign |
Het |
Nfxl1 |
C |
T |
5: 72,686,378 (GRCm39) |
A608T |
possibly damaging |
Het |
Nmd3 |
A |
G |
3: 69,631,732 (GRCm39) |
|
probably benign |
Het |
Nol8 |
C |
T |
13: 49,831,868 (GRCm39) |
|
probably benign |
Het |
Or1e29 |
A |
T |
11: 73,668,051 (GRCm39) |
M34K |
probably damaging |
Het |
Or8b12i |
C |
A |
9: 20,082,061 (GRCm39) |
G269W |
probably benign |
Het |
Or8b42 |
T |
A |
9: 38,342,352 (GRCm39) |
M258K |
possibly damaging |
Het |
Or8g34 |
G |
A |
9: 39,373,226 (GRCm39) |
M166I |
probably benign |
Het |
Phf11c |
A |
G |
14: 59,618,933 (GRCm39) |
V284A |
probably benign |
Het |
Rasl11a |
G |
T |
5: 146,784,113 (GRCm39) |
C186F |
probably benign |
Het |
Rps18-ps3 |
T |
C |
8: 107,989,469 (GRCm39) |
|
noncoding transcript |
Het |
Rusc1 |
A |
G |
3: 88,999,030 (GRCm39) |
S251P |
possibly damaging |
Het |
Rxfp3 |
T |
C |
15: 11,037,303 (GRCm39) |
E23G |
probably benign |
Het |
Senp6 |
G |
A |
9: 80,051,124 (GRCm39) |
A1134T |
probably benign |
Het |
Slc22a4 |
A |
G |
11: 53,898,615 (GRCm39) |
V159A |
probably benign |
Het |
Spata31d1a |
T |
C |
13: 59,850,907 (GRCm39) |
N407S |
probably benign |
Het |
Ssc4d |
T |
C |
5: 135,994,578 (GRCm39) |
T51A |
possibly damaging |
Het |
Stip1 |
C |
T |
19: 7,013,016 (GRCm39) |
A23T |
probably benign |
Het |
Tecta |
A |
T |
9: 42,289,290 (GRCm39) |
M425K |
possibly damaging |
Het |
Tmed4 |
T |
C |
11: 6,224,151 (GRCm39) |
H115R |
probably benign |
Het |
Tmem255b |
T |
A |
8: 13,501,048 (GRCm39) |
L74H |
probably damaging |
Het |
Trav6n-5 |
A |
T |
14: 53,342,741 (GRCm39) |
H93L |
possibly damaging |
Het |
Tsen54 |
T |
A |
11: 115,710,990 (GRCm39) |
D187E |
probably benign |
Het |
Ttc39d |
A |
G |
17: 80,524,982 (GRCm39) |
Y547C |
probably damaging |
Het |
Vmn2r88 |
A |
G |
14: 51,656,089 (GRCm39) |
N775S |
probably damaging |
Het |
Vps13a |
G |
T |
19: 16,642,101 (GRCm39) |
N2175K |
probably benign |
Het |
Wnk4 |
A |
G |
11: 101,167,717 (GRCm39) |
|
probably benign |
Het |
Zfp180 |
A |
T |
7: 23,804,928 (GRCm39) |
Q449L |
probably 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 |
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 |
R7728:Pcdhgb2
|
UTSW |
18 |
37,824,260 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2017-05-15 |