Incidental Mutation 'R5621:Pcdhgb1'
ID |
441589 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhgb1
|
Ensembl Gene |
ENSMUSG00000103037 |
Gene Name |
protocadherin gamma subfamily B, 1 |
Synonyms |
|
MMRRC Submission |
043279-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R5621 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37813325-37974923 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37815222 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 571
(E571G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141348
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000192931]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194544]
[ENSMUST00000194418]
|
AlphaFold |
Q91XX8 |
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 |
possibly damaging
Transcript: ENSMUST00000192931
AA Change: E571G
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000141348 Gene: ENSMUSG00000103037 AA Change: E571G
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: 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 |
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: 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 |
0.3917 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
98% (63/64) |
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 |
Abcg8 |
T |
G |
17: 85,003,421 (GRCm39) |
L417R |
probably damaging |
Het |
Adrm1b |
G |
A |
3: 92,335,664 (GRCm39) |
A346V |
probably damaging |
Het |
Als2 |
A |
G |
1: 59,231,049 (GRCm39) |
V854A |
probably benign |
Het |
Bbox1 |
C |
T |
2: 110,122,868 (GRCm39) |
W140* |
probably null |
Het |
Ccdc28a |
A |
T |
10: 18,092,016 (GRCm39) |
N110K |
probably benign |
Het |
Chrna6 |
C |
T |
8: 27,897,068 (GRCm39) |
E270K |
probably damaging |
Het |
Cilp |
A |
G |
9: 65,186,073 (GRCm39) |
K723E |
possibly damaging |
Het |
Ciz1 |
C |
A |
2: 32,261,753 (GRCm39) |
A455E |
probably damaging |
Het |
Csmd3 |
T |
G |
15: 48,177,374 (GRCm39) |
H388P |
possibly damaging |
Het |
Dnajc8 |
A |
G |
4: 132,280,563 (GRCm39) |
|
probably benign |
Het |
Dnase1 |
G |
T |
16: 3,856,982 (GRCm39) |
C164F |
probably benign |
Het |
Dync2h1 |
A |
T |
9: 7,120,909 (GRCm39) |
I2126K |
possibly damaging |
Het |
Epha4 |
G |
T |
1: 77,491,686 (GRCm39) |
|
probably benign |
Het |
Fer1l6 |
T |
C |
15: 58,430,175 (GRCm39) |
C201R |
probably damaging |
Het |
Fgf8 |
T |
C |
19: 45,730,821 (GRCm39) |
Y68C |
probably benign |
Het |
Gabrb1 |
A |
T |
5: 72,266,071 (GRCm39) |
I243F |
probably damaging |
Het |
Gpam |
A |
C |
19: 55,067,692 (GRCm39) |
S484A |
probably damaging |
Het |
Hectd2 |
T |
A |
19: 36,596,151 (GRCm39) |
N745K |
probably damaging |
Het |
Hspa13 |
T |
C |
16: 75,563,651 (GRCm39) |
|
probably benign |
Het |
Ints2 |
A |
G |
11: 86,133,773 (GRCm39) |
F426L |
probably benign |
Het |
Ism1 |
A |
G |
2: 139,520,641 (GRCm39) |
T18A |
probably damaging |
Het |
Itih2 |
T |
A |
2: 10,107,616 (GRCm39) |
Q650L |
probably benign |
Het |
Jmjd4 |
T |
C |
11: 59,341,219 (GRCm39) |
F50S |
probably damaging |
Het |
Kif5b |
T |
C |
18: 6,226,883 (GRCm39) |
N125S |
probably benign |
Het |
Lonp1 |
G |
C |
17: 56,927,263 (GRCm39) |
A330G |
probably benign |
Het |
Lrfn1 |
A |
G |
7: 28,166,261 (GRCm39) |
I552V |
probably damaging |
Het |
Mcph1 |
A |
G |
8: 18,682,186 (GRCm39) |
E441G |
probably damaging |
Het |
Mdn1 |
T |
A |
4: 32,716,371 (GRCm39) |
H2144Q |
possibly damaging |
Het |
Mms19 |
A |
G |
19: 41,954,752 (GRCm39) |
S56P |
probably benign |
Het |
Mrgprb3 |
A |
G |
7: 48,293,116 (GRCm39) |
I145T |
probably benign |
Het |
Myh11 |
G |
A |
16: 14,062,719 (GRCm39) |
T287I |
probably damaging |
Het |
Npas2 |
A |
G |
1: 39,398,794 (GRCm39) |
T730A |
probably benign |
Het |
Or4c108 |
T |
C |
2: 88,803,810 (GRCm39) |
I142V |
probably benign |
Het |
Or4c15b |
G |
A |
2: 89,112,697 (GRCm39) |
P281L |
probably damaging |
Het |
Pcx |
T |
A |
19: 4,669,195 (GRCm39) |
V731E |
possibly damaging |
Het |
Pgm2 |
T |
A |
5: 64,269,381 (GRCm39) |
Y489* |
probably null |
Het |
Rrp12 |
T |
C |
19: 41,868,856 (GRCm39) |
T541A |
probably benign |
Het |
Ryr3 |
C |
T |
2: 112,731,329 (GRCm39) |
W660* |
probably null |
Het |
Sertad2 |
T |
A |
11: 20,598,061 (GRCm39) |
F86I |
possibly damaging |
Het |
Slc11a1 |
G |
A |
1: 74,420,065 (GRCm39) |
G191D |
probably damaging |
Het |
Slc22a22 |
G |
T |
15: 57,122,547 (GRCm39) |
F143L |
probably benign |
Het |
Slc22a28 |
C |
T |
19: 8,048,376 (GRCm39) |
V424I |
probably benign |
Het |
Slc7a11 |
T |
G |
3: 50,393,324 (GRCm39) |
K106N |
probably damaging |
Het |
Smgc |
A |
T |
15: 91,728,623 (GRCm39) |
D121V |
probably damaging |
Het |
Sphk1 |
C |
T |
11: 116,427,192 (GRCm39) |
|
probably benign |
Het |
Spock3 |
A |
T |
8: 63,597,040 (GRCm39) |
T118S |
probably benign |
Het |
Stk17b |
G |
T |
1: 53,810,943 (GRCm39) |
S54* |
probably null |
Het |
Sycp2 |
A |
G |
2: 178,023,711 (GRCm39) |
I435T |
probably benign |
Het |
Tm2d3 |
G |
T |
7: 65,351,366 (GRCm39) |
D207Y |
probably damaging |
Het |
Top2b |
A |
T |
14: 16,387,280 (GRCm38) |
N123Y |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,677,202 (GRCm39) |
T2044A |
possibly damaging |
Het |
Usp6nl |
A |
G |
2: 6,445,243 (GRCm39) |
S407G |
probably benign |
Het |
Vmn1r195 |
G |
A |
13: 22,462,559 (GRCm39) |
V10I |
probably benign |
Het |
Zfp292 |
C |
T |
4: 34,811,703 (GRCm39) |
R447H |
probably damaging |
Het |
|
Other mutations in Pcdhgb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
PIT1430001:Pcdhgb1
|
UTSW |
18 |
37,814,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R4433:Pcdhgb1
|
UTSW |
18 |
37,814,304 (GRCm39) |
missense |
probably damaging |
0.99 |
R4599:Pcdhgb1
|
UTSW |
18 |
37,814,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R4974:Pcdhgb1
|
UTSW |
18 |
37,815,425 (GRCm39) |
missense |
probably benign |
0.11 |
R5214:Pcdhgb1
|
UTSW |
18 |
37,814,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R5981:Pcdhgb1
|
UTSW |
18 |
37,814,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R6593:Pcdhgb1
|
UTSW |
18 |
37,815,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R6666:Pcdhgb1
|
UTSW |
18 |
37,814,546 (GRCm39) |
nonsense |
probably null |
|
R6835:Pcdhgb1
|
UTSW |
18 |
37,813,553 (GRCm39) |
missense |
probably benign |
0.02 |
R6992:Pcdhgb1
|
UTSW |
18 |
37,814,652 (GRCm39) |
missense |
probably benign |
0.03 |
R7152:Pcdhgb1
|
UTSW |
18 |
37,814,854 (GRCm39) |
missense |
probably benign |
0.38 |
R7512:Pcdhgb1
|
UTSW |
18 |
37,815,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R7583:Pcdhgb1
|
UTSW |
18 |
37,815,377 (GRCm39) |
missense |
probably damaging |
0.98 |
R8154:Pcdhgb1
|
UTSW |
18 |
37,815,596 (GRCm39) |
missense |
probably damaging |
0.98 |
R8513:Pcdhgb1
|
UTSW |
18 |
37,813,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R8517:Pcdhgb1
|
UTSW |
18 |
37,815,117 (GRCm39) |
missense |
possibly damaging |
0.47 |
R8725:Pcdhgb1
|
UTSW |
18 |
37,814,467 (GRCm39) |
nonsense |
probably null |
|
R8997:Pcdhgb1
|
UTSW |
18 |
37,814,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R9092:Pcdhgb1
|
UTSW |
18 |
37,813,989 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9195:Pcdhgb1
|
UTSW |
18 |
37,814,157 (GRCm39) |
missense |
probably damaging |
0.99 |
R9350:Pcdhgb1
|
UTSW |
18 |
37,814,705 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Pcdhgb1
|
UTSW |
18 |
37,814,893 (GRCm39) |
missense |
probably benign |
0.24 |
Z1177:Pcdhgb1
|
UTSW |
18 |
37,815,387 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTCCTTCCAGCTGACACTG -3'
(R):5'- AGATGGTAGAGGGTCATCGC -3'
Sequencing Primer
(F):5'- TCCAGCTGACACTGCAGGC -3'
(R):5'- TCATCGCTGAGGTCTGGCAG -3'
|
Posted On |
2016-11-08 |