Incidental Mutation 'R7846:Pcdhgb2'
| ID |
606652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhgb2
|
| Ensembl Gene |
ENSMUSG00000102748 |
| Gene Name |
protocadherin gamma subfamily B, 2 |
| Synonyms |
|
| MMRRC Submission |
045900-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R7846 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37822912-37974925 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37825273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 755
(I755F)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000195112
AA Change: I755F
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141449
Gene: ENSMUSG00000102748
AA Change: I755F
| 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: 99.7%
- 20x: 99.0%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas1 |
A |
G |
5: 100,954,698 (GRCm39) |
V247A |
probably damaging |
Het |
| Acot13 |
G |
T |
13: 25,002,133 (GRCm39) |
T103K |
probably damaging |
Het |
| Acsl6 |
A |
T |
11: 54,251,901 (GRCm39) |
I683F |
probably damaging |
Het |
| Acss2 |
A |
T |
2: 155,402,953 (GRCm39) |
H577L |
probably damaging |
Het |
| Ahctf1 |
A |
T |
1: 179,614,638 (GRCm39) |
V382D |
probably damaging |
Het |
| Aldob |
T |
C |
4: 49,538,858 (GRCm39) |
H220R |
probably damaging |
Het |
| Ankrd1 |
C |
T |
19: 36,094,218 (GRCm39) |
V169M |
probably damaging |
Het |
| Atp5f1a |
G |
A |
18: 77,869,015 (GRCm39) |
R413H |
possibly damaging |
Het |
| Cep76 |
A |
G |
18: 67,762,975 (GRCm39) |
F283L |
probably damaging |
Het |
| Chrna5 |
A |
T |
9: 54,912,391 (GRCm39) |
D397V |
probably benign |
Het |
| Coro7 |
T |
C |
16: 4,488,400 (GRCm39) |
D90G |
probably damaging |
Het |
| Csnk1g3 |
A |
G |
18: 54,081,177 (GRCm39) |
N383D |
probably benign |
Het |
| Cwf19l2 |
C |
A |
9: 3,477,889 (GRCm39) |
Q865K |
probably damaging |
Het |
| Cyth2 |
C |
A |
7: 45,460,378 (GRCm39) |
W149C |
probably damaging |
Het |
| Dgkh |
C |
A |
14: 78,856,026 (GRCm39) |
R349L |
probably damaging |
Het |
| Dnajc1 |
G |
T |
2: 18,224,704 (GRCm39) |
T383N |
possibly damaging |
Het |
| Efcab3 |
T |
A |
11: 104,605,571 (GRCm39) |
|
probably null |
Het |
| Extl3 |
A |
T |
14: 65,313,181 (GRCm39) |
M667K |
probably damaging |
Het |
| Fam149a |
G |
T |
8: 45,811,678 (GRCm39) |
A75E |
|
Het |
| Fgd4 |
T |
G |
16: 16,240,590 (GRCm39) |
Q713P |
probably damaging |
Het |
| Frat2 |
T |
A |
19: 41,836,215 (GRCm39) |
I46F |
probably damaging |
Het |
| Gzmc |
A |
G |
14: 56,469,017 (GRCm39) |
V234A |
probably damaging |
Het |
| H2-Q4 |
A |
G |
17: 35,599,134 (GRCm39) |
N135D |
probably damaging |
Het |
| Ighv1-85 |
A |
T |
12: 115,963,937 (GRCm39) |
V21D |
possibly damaging |
Het |
| Itprid1 |
A |
G |
6: 55,955,320 (GRCm39) |
Q976R |
possibly damaging |
Het |
| Kcna6 |
A |
T |
6: 126,715,983 (GRCm39) |
V302E |
probably damaging |
Het |
| Kdm3b |
G |
T |
18: 34,942,293 (GRCm39) |
V795L |
possibly damaging |
Het |
| Kdm5b |
G |
A |
1: 134,545,578 (GRCm39) |
R913H |
probably damaging |
Het |
| Lpp |
T |
A |
16: 24,426,876 (GRCm39) |
M1K |
probably null |
Het |
| Med12l |
T |
C |
3: 59,172,355 (GRCm39) |
S1704P |
probably damaging |
Het |
| Mfsd10 |
G |
T |
5: 34,793,456 (GRCm39) |
S95* |
probably null |
Het |
| Napepld |
C |
T |
5: 21,880,721 (GRCm39) |
E225K |
probably benign |
Het |
| Ndfip2 |
T |
C |
14: 105,535,448 (GRCm39) |
F245L |
probably damaging |
Het |
| Oaf |
G |
A |
9: 43,134,077 (GRCm39) |
R215C |
probably damaging |
Het |
| Or10k2 |
A |
G |
8: 84,268,526 (GRCm39) |
H251R |
probably damaging |
Het |
| Or13a20 |
C |
T |
7: 140,232,374 (GRCm39) |
H161Y |
probably damaging |
Het |
| Or51i1 |
A |
G |
7: 103,670,736 (GRCm39) |
I263T |
possibly damaging |
Het |
| Or52z15 |
A |
G |
7: 103,332,407 (GRCm39) |
I161V |
probably benign |
Het |
| Or5p6 |
A |
G |
7: 107,631,199 (GRCm39) |
I117T |
probably benign |
Het |
| Or8b47 |
A |
G |
9: 38,435,675 (GRCm39) |
T216A |
probably benign |
Het |
| Pde4dip |
A |
G |
3: 97,622,490 (GRCm39) |
L1573P |
probably damaging |
Het |
| Peg3 |
A |
T |
7: 6,713,650 (GRCm39) |
V524E |
probably damaging |
Het |
| Phc1 |
G |
T |
6: 122,310,329 (GRCm39) |
T126N |
probably damaging |
Het |
| Phf1 |
C |
A |
17: 27,154,291 (GRCm39) |
Y169* |
probably null |
Het |
| Pramel25 |
A |
T |
4: 143,520,563 (GRCm39) |
D269V |
probably benign |
Het |
| Prl3a1 |
G |
A |
13: 27,456,442 (GRCm39) |
E99K |
probably damaging |
Het |
| Prss57 |
G |
A |
10: 79,623,213 (GRCm39) |
A78V |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,119,453 (GRCm39) |
T196S |
probably benign |
Het |
| Rgsl1 |
A |
T |
1: 153,701,783 (GRCm39) |
C224S |
possibly damaging |
Het |
| Rtn4 |
T |
C |
11: 29,643,274 (GRCm39) |
V29A |
unknown |
Het |
| Selplg |
G |
A |
5: 113,957,481 (GRCm39) |
T275M |
probably damaging |
Het |
| Skint11 |
C |
T |
4: 114,102,076 (GRCm39) |
T363I |
possibly damaging |
Het |
| Slc22a29 |
T |
A |
19: 8,170,851 (GRCm39) |
I289F |
probably benign |
Het |
| Slc26a2 |
A |
G |
18: 61,331,776 (GRCm39) |
S552P |
probably benign |
Het |
| Sptb |
T |
A |
12: 76,655,300 (GRCm39) |
K1480* |
probably null |
Het |
| Sptbn1 |
C |
A |
11: 30,092,153 (GRCm39) |
M537I |
probably damaging |
Het |
| Sqor |
A |
T |
2: 122,627,008 (GRCm39) |
H43L |
probably benign |
Het |
| Srcin1 |
C |
A |
11: 97,416,926 (GRCm39) |
E913* |
probably null |
Het |
| Srgap1 |
A |
G |
10: 121,621,397 (GRCm39) |
L1032P |
probably damaging |
Het |
| Stc2 |
T |
C |
11: 31,315,413 (GRCm39) |
K142R |
probably benign |
Het |
| Stox1 |
A |
C |
10: 62,495,305 (GRCm39) |
N989K |
probably damaging |
Het |
| Tert |
T |
A |
13: 73,776,314 (GRCm39) |
L355H |
probably damaging |
Het |
| Tfb2m |
A |
G |
1: 179,358,926 (GRCm39) |
F319S |
probably damaging |
Het |
| Trps1 |
A |
G |
15: 50,695,273 (GRCm39) |
F341L |
probably damaging |
Het |
| Ttk |
T |
C |
9: 83,725,732 (GRCm39) |
V218A |
probably benign |
Het |
| Vmn1r159 |
A |
G |
7: 22,542,696 (GRCm39) |
I112T |
probably benign |
Het |
| Vps8 |
C |
A |
16: 21,351,070 (GRCm39) |
Q916K |
probably benign |
Het |
| Wdr12 |
A |
T |
1: 60,121,225 (GRCm39) |
D364E |
probably damaging |
Het |
| Ylpm1 |
A |
G |
12: 85,104,042 (GRCm39) |
E2019G |
probably damaging |
Het |
| Zfp267 |
C |
A |
3: 36,219,738 (GRCm39) |
T587N |
probably benign |
Het |
| Zfp507 |
A |
G |
7: 35,493,963 (GRCm39) |
L360P |
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 |
|
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 |
|
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 |
|
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'- TGGCCCTGATCTCAGTACTC -3'
(R):5'- GCAGAACACTGTTCAAGACTGAC -3'
Sequencing Primer
(F):5'- AGTACTCTTCCTCCTGTCGGTG -3'
(R):5'- CACTGTTCAAGACTGACTTATAAGAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation