Incidental Mutation 'R4095:Pcdhgb2'
ID |
317887 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhgb2
|
Ensembl Gene |
ENSMUSG00000102748 |
Gene Name |
protocadherin gamma subfamily B, 2 |
Synonyms |
|
MMRRC Submission |
040858-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R4095 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37822912-37974925 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 37824003 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 331
(S331R)
|
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 benign
Transcript: ENSMUST00000195112
AA Change: S331R
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000141449 Gene: ENSMUSG00000102748 AA Change: S331R
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 |
noncoding transcript
Transcript: ENSMUST00000195624
|
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
|
Meta Mutation Damage Score |
0.2233 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.8%
|
Validation Efficiency |
97% (59/61) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap6 |
A |
T |
12: 53,186,245 (GRCm39) |
I1220L |
probably damaging |
Het |
Alas1 |
G |
T |
9: 106,119,000 (GRCm39) |
|
probably null |
Het |
Apba1 |
A |
T |
19: 23,921,388 (GRCm39) |
Q737L |
probably benign |
Het |
Arvcf |
T |
A |
16: 18,220,327 (GRCm39) |
D564E |
probably damaging |
Het |
Bcl11b |
G |
T |
12: 107,883,094 (GRCm39) |
P335Q |
probably damaging |
Het |
Brd9 |
G |
A |
13: 74,092,918 (GRCm39) |
V302I |
probably benign |
Het |
Brinp3 |
C |
A |
1: 146,777,430 (GRCm39) |
H626N |
possibly damaging |
Het |
C1qc |
T |
C |
4: 136,617,637 (GRCm39) |
N153S |
probably benign |
Het |
Casp3 |
G |
A |
8: 47,087,251 (GRCm39) |
G66D |
probably damaging |
Het |
Coq7 |
T |
G |
7: 118,126,701 (GRCm39) |
|
probably null |
Het |
Dach1 |
C |
T |
14: 98,138,815 (GRCm39) |
V491M |
possibly damaging |
Het |
Dda1 |
A |
G |
8: 71,926,436 (GRCm39) |
T52A |
possibly damaging |
Het |
Entpd7 |
A |
G |
19: 43,692,640 (GRCm39) |
Y65C |
probably damaging |
Het |
Fmnl2 |
A |
G |
2: 52,991,535 (GRCm39) |
D350G |
probably damaging |
Het |
Foxn3 |
G |
T |
12: 99,162,700 (GRCm39) |
D400E |
probably damaging |
Het |
Gbp2 |
A |
G |
3: 142,343,210 (GRCm39) |
T576A |
probably benign |
Het |
Gm15446 |
T |
A |
5: 110,088,590 (GRCm39) |
|
probably null |
Het |
Gtf2a1 |
G |
T |
12: 91,542,411 (GRCm39) |
T57K |
possibly damaging |
Het |
Hps5 |
T |
C |
7: 46,425,218 (GRCm39) |
E494G |
probably benign |
Het |
Htr2a |
G |
A |
14: 74,943,789 (GRCm39) |
M456I |
probably benign |
Het |
Hydin |
A |
G |
8: 111,268,179 (GRCm39) |
N2886S |
probably damaging |
Het |
Ighv2-6-8 |
T |
C |
12: 113,759,773 (GRCm39) |
Y112C |
probably damaging |
Het |
Kcnf1 |
A |
T |
12: 17,225,480 (GRCm39) |
L247Q |
possibly damaging |
Het |
Kndc1 |
A |
G |
7: 139,516,938 (GRCm39) |
M1606V |
possibly damaging |
Het |
Krt27 |
T |
C |
11: 99,236,619 (GRCm39) |
T431A |
probably benign |
Het |
Lama4 |
A |
T |
10: 38,973,118 (GRCm39) |
I1562F |
probably damaging |
Het |
Lrig1 |
T |
C |
6: 94,590,559 (GRCm39) |
D487G |
probably benign |
Het |
Lrp1b |
G |
A |
2: 41,339,203 (GRCm39) |
T880I |
probably benign |
Het |
Ltbp4 |
A |
G |
7: 27,024,641 (GRCm39) |
V663A |
possibly damaging |
Het |
Mapt |
T |
C |
11: 104,201,362 (GRCm39) |
|
probably null |
Het |
Mpdz |
A |
T |
4: 81,302,060 (GRCm39) |
V229D |
possibly damaging |
Het |
Or10am5 |
T |
A |
7: 6,518,252 (GRCm39) |
S59C |
possibly damaging |
Het |
Or6e1 |
T |
C |
14: 54,520,188 (GRCm39) |
T55A |
probably benign |
Het |
Or8s10 |
T |
C |
15: 98,335,563 (GRCm39) |
L71P |
probably damaging |
Het |
Parm1 |
T |
C |
5: 91,742,039 (GRCm39) |
S136P |
probably benign |
Het |
Pdxk |
T |
C |
10: 78,300,644 (GRCm39) |
H13R |
probably damaging |
Het |
Ppp1r12c |
T |
C |
7: 4,486,366 (GRCm39) |
E601G |
probably damaging |
Het |
Rell1 |
C |
A |
5: 64,126,013 (GRCm39) |
V22L |
probably benign |
Het |
Sema6c |
T |
A |
3: 95,080,505 (GRCm39) |
L901Q |
probably benign |
Het |
Sfswap |
A |
G |
5: 129,637,805 (GRCm39) |
S821G |
possibly damaging |
Het |
Slc22a23 |
A |
G |
13: 34,489,189 (GRCm39) |
L116P |
probably damaging |
Het |
Slit1 |
A |
T |
19: 41,596,925 (GRCm39) |
|
probably benign |
Het |
Spns1 |
T |
C |
7: 125,969,958 (GRCm39) |
T481A |
probably damaging |
Het |
Tmem104 |
T |
A |
11: 115,134,749 (GRCm39) |
Y427* |
probably null |
Het |
Tmem74 |
G |
A |
15: 43,730,678 (GRCm39) |
Q122* |
probably null |
Het |
Tnpo2 |
T |
A |
8: 85,765,048 (GRCm39) |
L10Q |
probably damaging |
Het |
Trav6-2 |
G |
T |
14: 52,905,272 (GRCm39) |
A98S |
probably benign |
Het |
Ttll5 |
A |
T |
12: 86,003,376 (GRCm39) |
R214* |
probably null |
Het |
Ube2b |
A |
C |
11: 51,888,654 (GRCm39) |
V39G |
possibly damaging |
Het |
Vmn1r185 |
A |
T |
7: 26,311,208 (GRCm39) |
V99E |
probably damaging |
Het |
Wnk1 |
G |
A |
6: 119,925,087 (GRCm39) |
T1459I |
probably damaging |
Het |
Zc3h7a |
T |
C |
16: 10,963,099 (GRCm39) |
K754R |
probably damaging |
Het |
Zfp605 |
A |
G |
5: 110,275,602 (GRCm39) |
K240R |
probably damaging |
Het |
Zfp61 |
A |
G |
7: 23,990,700 (GRCm39) |
|
probably null |
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 |
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 |
PCR Primer
(F):5'- TGCAGAAATCACCTACGCTTTTC -3'
(R):5'- CGGTCTAGAGTTCTGTCTGTCAC -3'
Sequencing Primer
(F):5'- ACCTACGCTTTTCACAATGTGGATG -3'
(R):5'- CTAGAGTTCTGTCTGTCACTAGTTTG -3'
|
Posted On |
2015-05-15 |