Incidental Mutation 'R7150:Pcdhgb2'
| ID |
554095 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhgb2
|
| Ensembl Gene |
ENSMUSG00000102748 |
| Gene Name |
protocadherin gamma subfamily B, 2 |
| Synonyms |
|
| MMRRC Submission |
045252-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R7150 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37822912-37974925 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37825300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 764
(F764L)
|
| 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: F764L
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141449
Gene: ENSMUSG00000102748
AA Change: F764L
| 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
|
| Meta Mutation Damage Score |
0.1974 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (59/60) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810004N23Rik |
T |
C |
8: 125,589,653 (GRCm39) |
D20G |
possibly damaging |
Het |
| 5430401F13Rik |
T |
C |
6: 131,529,630 (GRCm39) |
S75P |
probably benign |
Het |
| Acad8 |
A |
T |
9: 26,889,750 (GRCm39) |
F315I |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,118,904 (GRCm39) |
Y1085C |
probably damaging |
Het |
| Aldh1a7 |
T |
C |
19: 20,693,382 (GRCm39) |
K179R |
probably damaging |
Het |
| Arhgap10 |
C |
T |
8: 77,977,583 (GRCm39) |
G776R |
probably damaging |
Het |
| Arhgap35 |
A |
C |
7: 16,296,491 (GRCm39) |
F858C |
probably damaging |
Het |
| Ash1l |
C |
T |
3: 88,984,381 (GRCm39) |
R2957W |
probably damaging |
Het |
| Atp6ap1l |
G |
T |
13: 91,031,848 (GRCm39) |
A278E |
probably damaging |
Het |
| Btn1a1 |
A |
T |
13: 23,643,521 (GRCm39) |
D309E |
probably damaging |
Het |
| Casd1 |
C |
T |
6: 4,624,211 (GRCm39) |
R335C |
probably benign |
Het |
| Ceacam3 |
A |
G |
7: 16,885,487 (GRCm39) |
Q30R |
|
Het |
| Cfap20 |
C |
T |
8: 96,148,795 (GRCm39) |
C119Y |
probably damaging |
Het |
| Cntrl |
A |
T |
2: 35,055,457 (GRCm39) |
|
probably null |
Het |
| Crot |
A |
G |
5: 9,037,878 (GRCm39) |
V146A |
probably damaging |
Het |
| Cx3cl1 |
A |
G |
8: 95,506,591 (GRCm39) |
S199G |
probably damaging |
Het |
| Ddhd1 |
A |
T |
14: 45,895,263 (GRCm39) |
L69Q |
probably damaging |
Het |
| Dnah12 |
T |
C |
14: 26,583,689 (GRCm39) |
F3195L |
probably damaging |
Het |
| Dpy19l3 |
A |
T |
7: 35,408,055 (GRCm39) |
D450E |
probably benign |
Het |
| Ercc3 |
A |
T |
18: 32,390,325 (GRCm39) |
N538I |
probably damaging |
Het |
| Fzd1 |
A |
T |
5: 4,806,145 (GRCm39) |
V479E |
probably benign |
Het |
| Gart |
T |
C |
16: 91,425,351 (GRCm39) |
Y638C |
possibly damaging |
Het |
| Gm2381 |
C |
A |
7: 42,469,888 (GRCm39) |
V79L |
probably benign |
Het |
| Gucy1b1 |
T |
C |
3: 81,950,469 (GRCm39) |
Y312C |
probably damaging |
Het |
| Hecw1 |
T |
A |
13: 14,609,045 (GRCm39) |
M1L |
probably benign |
Het |
| Ip6k2 |
A |
G |
9: 108,673,930 (GRCm39) |
I99V |
unknown |
Het |
| Itgb5 |
C |
T |
16: 33,761,013 (GRCm39) |
T616I |
probably benign |
Het |
| Kmt2c |
A |
C |
5: 25,505,360 (GRCm39) |
V3316G |
possibly damaging |
Het |
| Lama3 |
C |
T |
18: 12,601,346 (GRCm39) |
R1008C |
probably damaging |
Het |
| Lin54 |
T |
C |
5: 100,633,159 (GRCm39) |
D175G |
possibly damaging |
Het |
| Lrp2 |
A |
G |
2: 69,318,395 (GRCm39) |
S2019P |
probably damaging |
Het |
| Lrrc9 |
A |
G |
12: 72,513,726 (GRCm39) |
E528G |
probably benign |
Het |
| Lyz3 |
T |
C |
10: 117,073,647 (GRCm39) |
N62S |
probably benign |
Het |
| Mto1 |
A |
G |
9: 78,364,565 (GRCm39) |
H299R |
probably damaging |
Het |
| Myo19 |
G |
A |
11: 84,796,439 (GRCm39) |
G684R |
probably benign |
Het |
| Or14c45 |
A |
C |
7: 86,176,322 (GRCm39) |
D119A |
probably damaging |
Het |
| Or7g32 |
A |
T |
9: 19,408,145 (GRCm39) |
M34L |
probably benign |
Het |
| Pcdh18 |
C |
A |
3: 49,709,143 (GRCm39) |
C724F |
probably benign |
Het |
| Pcdha3 |
A |
T |
18: 37,080,165 (GRCm39) |
K302N |
probably benign |
Het |
| Pik3cb |
C |
A |
9: 98,975,143 (GRCm39) |
G246W |
probably damaging |
Het |
| Polr2m |
A |
T |
9: 71,390,626 (GRCm39) |
I192N |
probably damaging |
Het |
| Polr2m |
G |
T |
9: 71,390,815 (GRCm39) |
T129K |
probably benign |
Het |
| Pramel48 |
A |
G |
5: 95,630,680 (GRCm39) |
I186V |
possibly damaging |
Het |
| Ptpn4 |
C |
T |
1: 119,619,475 (GRCm39) |
|
probably null |
Het |
| Scgb1b19 |
A |
T |
7: 32,986,940 (GRCm39) |
K30N |
possibly damaging |
Het |
| Shpk |
A |
G |
11: 73,104,315 (GRCm39) |
T155A |
probably damaging |
Het |
| Slit3 |
T |
C |
11: 35,461,546 (GRCm39) |
Y261H |
probably damaging |
Het |
| Sox13 |
A |
G |
1: 133,313,243 (GRCm39) |
F438L |
possibly damaging |
Het |
| Sphk1 |
A |
T |
11: 116,425,907 (GRCm39) |
E61D |
probably benign |
Het |
| St18 |
A |
G |
1: 6,873,243 (GRCm39) |
D326G |
probably damaging |
Het |
| Syde1 |
G |
A |
10: 78,422,032 (GRCm39) |
Q566* |
probably null |
Het |
| Tacc2 |
A |
G |
7: 130,330,807 (GRCm39) |
T254A |
probably benign |
Het |
| Tbc1d1 |
A |
G |
5: 64,330,827 (GRCm39) |
E2G |
probably damaging |
Het |
| Trim5 |
A |
T |
7: 103,926,017 (GRCm39) |
N181K |
probably damaging |
Het |
| Trpc7 |
A |
T |
13: 56,931,509 (GRCm39) |
I730K |
probably benign |
Het |
| Uqcrc1 |
T |
A |
9: 108,776,926 (GRCm39) |
M377K |
probably benign |
Het |
| Vmn2r4 |
T |
C |
3: 64,305,898 (GRCm39) |
N508S |
probably benign |
Het |
| Vmp1 |
A |
T |
11: 86,477,402 (GRCm39) |
S333T |
probably benign |
Het |
| Vps50 |
T |
A |
6: 3,578,854 (GRCm39) |
M639K |
possibly damaging |
Het |
| Zfp874b |
A |
T |
13: 67,622,622 (GRCm39) |
C225* |
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 |
|
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 |
|
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'- TGGCCCTGATCTCAGTACTC -3'
(R):5'- GCAGAACACTGTTCAAGACTG -3'
Sequencing Primer
(F):5'- CCTCCTGTCGGTGATTCTGG -3'
(R):5'- CACTGTTCAAGACTGACTTATAAGAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation