Incidental Mutation 'R6953:Pcdhgb2'
ID |
541342 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhgb2
|
Ensembl Gene |
ENSMUSG00000102748 |
Gene Name |
protocadherin gamma subfamily B, 2 |
Synonyms |
|
MMRRC Submission |
045065-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R6953 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37822912-37974925 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 37823807 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 266
(T266I)
|
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: T266I
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000141449 Gene: ENSMUSG00000102748 AA Change: T266I
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: 99.2%
- 20x: 97.3%
|
Validation Efficiency |
98% (54/55) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130401M01Rik |
C |
A |
15: 57,892,223 (GRCm39) |
S128I |
probably damaging |
Het |
Aadacl2 |
A |
C |
3: 59,932,181 (GRCm39) |
H232P |
possibly damaging |
Het |
Abcc3 |
A |
G |
11: 94,265,661 (GRCm39) |
Y125H |
probably benign |
Het |
Adgrb3 |
A |
G |
1: 25,865,592 (GRCm39) |
S84P |
probably damaging |
Het |
Adgrd1 |
A |
T |
5: 129,192,142 (GRCm39) |
K71* |
probably null |
Het |
Ap2m1 |
T |
A |
16: 20,361,468 (GRCm39) |
W381R |
probably damaging |
Het |
Ascc3 |
A |
G |
10: 50,521,762 (GRCm39) |
I426V |
probably benign |
Het |
BC024063 |
T |
A |
10: 81,943,733 (GRCm39) |
D31E |
possibly damaging |
Het |
C3ar1 |
G |
A |
6: 122,827,591 (GRCm39) |
H209Y |
possibly damaging |
Het |
Ccp110 |
T |
C |
7: 118,321,644 (GRCm39) |
V433A |
possibly damaging |
Het |
Cfap54 |
A |
G |
10: 92,830,540 (GRCm39) |
S1199P |
probably benign |
Het |
Cyp24a1 |
T |
G |
2: 170,329,866 (GRCm39) |
D362A |
probably benign |
Het |
Dapk2 |
C |
G |
9: 66,161,904 (GRCm39) |
R271G |
probably benign |
Het |
Dnmt1 |
G |
T |
9: 20,829,822 (GRCm39) |
Q633K |
probably benign |
Het |
Ercc4 |
T |
A |
16: 12,948,550 (GRCm39) |
V499D |
probably damaging |
Het |
Ier3ip1 |
C |
G |
18: 77,027,309 (GRCm39) |
P46R |
probably damaging |
Het |
Ifi211 |
T |
C |
1: 173,733,832 (GRCm39) |
T110A |
probably damaging |
Het |
Isoc1 |
A |
G |
18: 58,804,374 (GRCm39) |
D134G |
possibly damaging |
Het |
Kif26b |
A |
G |
1: 178,701,637 (GRCm39) |
D672G |
possibly damaging |
Het |
Klhl33 |
T |
A |
14: 51,128,973 (GRCm39) |
D752V |
possibly damaging |
Het |
Lcn4 |
A |
G |
2: 26,559,367 (GRCm39) |
Y133H |
probably benign |
Het |
Mrs2 |
C |
A |
13: 25,185,771 (GRCm39) |
V134L |
probably benign |
Het |
Muc16 |
T |
C |
9: 18,551,825 (GRCm39) |
T4823A |
probably benign |
Het |
Ogfod3 |
A |
G |
11: 121,093,824 (GRCm39) |
I62T |
probably benign |
Het |
Or2m13 |
C |
T |
16: 19,226,278 (GRCm39) |
V164I |
probably benign |
Het |
Or2y10 |
A |
G |
11: 49,455,117 (GRCm39) |
Y123C |
probably damaging |
Het |
Or6c204 |
A |
T |
10: 129,022,474 (GRCm39) |
M272K |
probably benign |
Het |
Or7e175 |
A |
T |
9: 20,049,299 (GRCm39) |
I296L |
probably benign |
Het |
Papln |
G |
A |
12: 83,828,659 (GRCm39) |
W788* |
probably null |
Het |
Pcdhac2 |
A |
G |
18: 37,277,479 (GRCm39) |
Q153R |
probably benign |
Het |
Pcdhgc5 |
C |
A |
18: 37,953,514 (GRCm39) |
R263S |
possibly damaging |
Het |
Phactr4 |
T |
C |
4: 132,104,662 (GRCm39) |
T185A |
possibly damaging |
Het |
Plcxd2 |
T |
C |
16: 45,800,882 (GRCm39) |
D114G |
probably damaging |
Het |
Polr2a |
A |
T |
11: 69,632,537 (GRCm39) |
I987N |
probably damaging |
Het |
Prl3d3 |
A |
G |
13: 27,345,029 (GRCm39) |
M134V |
probably benign |
Het |
Pum2 |
T |
A |
12: 8,778,779 (GRCm39) |
|
probably null |
Het |
Racgap1 |
T |
C |
15: 99,524,210 (GRCm39) |
E399G |
probably damaging |
Het |
Sbspon |
A |
T |
1: 15,930,519 (GRCm39) |
S156T |
probably damaging |
Het |
Scn1a |
T |
C |
2: 66,149,813 (GRCm39) |
T927A |
probably damaging |
Het |
Sec23ip |
C |
A |
7: 128,354,520 (GRCm39) |
S78* |
probably null |
Het |
Serpina1d |
G |
A |
12: 103,733,989 (GRCm39) |
T105I |
probably benign |
Het |
Slc25a21 |
T |
A |
12: 57,205,954 (GRCm39) |
N26Y |
probably benign |
Het |
Smim20 |
T |
A |
5: 53,435,258 (GRCm39) |
D64E |
probably damaging |
Het |
Spag17 |
T |
G |
3: 99,942,291 (GRCm39) |
I772S |
possibly damaging |
Het |
Tars2 |
T |
C |
3: 95,660,426 (GRCm39) |
T99A |
possibly damaging |
Het |
Tdrd1 |
C |
T |
19: 56,819,803 (GRCm39) |
T101I |
probably damaging |
Het |
Tldc2 |
T |
G |
2: 156,931,198 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
G |
2: 76,601,929 (GRCm39) |
Y10251H |
probably damaging |
Het |
Ush2a |
A |
G |
1: 187,995,342 (GRCm39) |
R38G |
possibly damaging |
Het |
Usp19 |
T |
C |
9: 108,376,130 (GRCm39) |
L991P |
possibly damaging |
Het |
Vmn2r109 |
G |
A |
17: 20,760,973 (GRCm39) |
P795S |
possibly damaging |
Het |
Vmn2r26 |
T |
C |
6: 124,016,741 (GRCm39) |
Y402H |
probably benign |
Het |
Vmn2r-ps117 |
T |
G |
17: 19,045,095 (GRCm39) |
I504R |
probably benign |
Het |
Zfp551 |
A |
T |
7: 12,150,715 (GRCm39) |
C231* |
probably null |
Het |
Zfp607a |
T |
A |
7: 27,577,790 (GRCm39) |
C287S |
possibly damaging |
Het |
Zim1 |
T |
A |
7: 6,690,706 (GRCm39) |
T40S |
unknown |
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 |
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'- CGTTTTCTGGACAGAGAAGAGC -3'
(R):5'- AATGGGATGCTAGGTCTCCG -3'
Sequencing Primer
(F):5'- GAAGAGCATAATTTTCACCAACTGG -3'
(R):5'- ATGCTAGGTCTCCGGGATC -3'
|
Posted On |
2018-11-28 |