Incidental Mutation 'R5019:Pcdhgb6'
ID |
389107 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhgb6
|
Ensembl Gene |
ENSMUSG00000103088 |
Gene Name |
protocadherin gamma subfamily B, 6 |
Synonyms |
|
MMRRC Submission |
042610-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.190)
|
Stock # |
R5019 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37875147-37974926 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37875994 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 234
(D234G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003599
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000192511]
[ENSMUST00000193414]
[ENSMUST00000192535]
[ENSMUST00000193869]
[ENSMUST00000195112]
[ENSMUST00000194544]
[ENSMUST00000194418]
[ENSMUST00000195363]
[ENSMUST00000194190]
[ENSMUST00000192931]
[ENSMUST00000195823]
[ENSMUST00000193404]
|
AlphaFold |
Q91XX4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003599
AA Change: D234G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000003599 Gene: ENSMUSG00000103088 AA Change: D234G
Domain | Start | End | E-Value | Type |
CA
|
47 |
131 |
8.06e-6 |
SMART |
CA
|
155 |
240 |
2.29e-19 |
SMART |
CA
|
264 |
345 |
3.36e-26 |
SMART |
CA
|
369 |
450 |
4.94e-24 |
SMART |
CA
|
474 |
560 |
7.6e-25 |
SMART |
CA
|
591 |
672 |
9.18e-10 |
SMART |
Pfam:Cadherin_C_2
|
687 |
768 |
3.5e-20 |
PFAM |
Pfam:Cadherin_tail
|
807 |
930 |
8.1e-38 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000066149
|
SMART Domains |
Protein: ENSMUSP00000067728 Gene: ENSMUSG00000103897
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
CA
|
31 |
131 |
4.84e-2 |
SMART |
CA
|
155 |
240 |
1.48e-22 |
SMART |
CA
|
264 |
345 |
1.14e-23 |
SMART |
CA
|
369 |
450 |
9.44e-21 |
SMART |
CA
|
474 |
560 |
1.03e-26 |
SMART |
CA
|
591 |
669 |
3.64e-13 |
SMART |
Pfam:Cadherin_C_2
|
688 |
772 |
3e-25 |
PFAM |
Pfam:Cadherin_tail
|
809 |
932 |
8.1e-38 |
PFAM |
|
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: ENSMUST00000091935
|
SMART Domains |
Protein: ENSMUSP00000089555 Gene: ENSMUSG00000102440
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
CA
|
32 |
132 |
8.37e-3 |
SMART |
CA
|
156 |
241 |
5.51e-22 |
SMART |
CA
|
265 |
346 |
8.27e-26 |
SMART |
CA
|
370 |
451 |
1.4e-23 |
SMART |
CA
|
475 |
561 |
2.97e-27 |
SMART |
CA
|
592 |
670 |
1.18e-12 |
SMART |
Pfam:Cadherin_C_2
|
688 |
772 |
3.9e-24 |
PFAM |
Pfam:Cadherin_tail
|
809 |
932 |
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 |
noncoding transcript
Transcript: ENSMUST00000180931
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192511
|
SMART Domains |
Protein: ENSMUSP00000141704 Gene: ENSMUSG00000103472
Domain | Start | End | E-Value | Type |
CA
|
47 |
133 |
1.57e-2 |
SMART |
CA
|
157 |
242 |
3.24e-19 |
SMART |
CA
|
266 |
347 |
3.21e-23 |
SMART |
CA
|
371 |
452 |
9.08e-23 |
SMART |
CA
|
476 |
562 |
1.32e-24 |
SMART |
CA
|
593 |
671 |
3.5e-15 |
SMART |
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
low complexity region
|
916 |
935 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194814
|
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: ENSMUST00000192535
|
SMART Domains |
Protein: ENSMUSP00000142010 Gene: ENSMUSG00000103749
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
25 |
N/A |
INTRINSIC |
CA
|
56 |
131 |
8e-3 |
SMART |
CA
|
155 |
240 |
2.49e-20 |
SMART |
CA
|
264 |
341 |
4.97e-29 |
SMART |
CA
|
365 |
446 |
1.09e-25 |
SMART |
CA
|
470 |
556 |
1.75e-24 |
SMART |
CA
|
587 |
668 |
9.18e-10 |
SMART |
transmembrane domain
|
687 |
709 |
N/A |
INTRINSIC |
low complexity region
|
907 |
926 |
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: ENSMUST00000195112
|
SMART Domains |
Protein: ENSMUSP00000141449 Gene: ENSMUSG00000102748
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: 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: ENSMUST00000193984
|
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: ENSMUST00000195363
|
SMART Domains |
Protein: ENSMUSP00000142227 Gene: ENSMUSG00000103585
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
25 |
N/A |
INTRINSIC |
CA
|
56 |
131 |
1.47e-2 |
SMART |
CA
|
155 |
240 |
1.23e-19 |
SMART |
CA
|
264 |
343 |
5.54e-27 |
SMART |
CA
|
367 |
448 |
5.09e-26 |
SMART |
CA
|
472 |
558 |
1.98e-23 |
SMART |
CA
|
589 |
670 |
1.3e-9 |
SMART |
transmembrane domain
|
689 |
711 |
N/A |
INTRINSIC |
low complexity region
|
893 |
912 |
N/A |
INTRINSIC |
|
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: 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: ENSMUST00000195823
|
SMART Domains |
Protein: ENSMUSP00000141803 Gene: ENSMUSG00000103793
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
CA
|
45 |
131 |
2.41e-2 |
SMART |
CA
|
155 |
240 |
5.77e-16 |
SMART |
CA
|
264 |
345 |
1.1e-21 |
SMART |
CA
|
369 |
450 |
2.75e-22 |
SMART |
low complexity region
|
453 |
462 |
N/A |
INTRINSIC |
CA
|
474 |
560 |
9.22e-24 |
SMART |
CA
|
591 |
669 |
2.4e-13 |
SMART |
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
low complexity region
|
913 |
932 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193404
|
SMART Domains |
Protein: ENSMUSP00000141359 Gene: ENSMUSG00000102222
Domain | Start | End | E-Value | Type |
CA
|
43 |
129 |
2.76e-2 |
SMART |
CA
|
153 |
238 |
1.16e-20 |
SMART |
CA
|
262 |
343 |
1.25e-25 |
SMART |
CA
|
367 |
448 |
4.75e-26 |
SMART |
CA
|
472 |
558 |
3.69e-23 |
SMART |
CA
|
589 |
667 |
3.84e-12 |
SMART |
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
low complexity region
|
911 |
930 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.8370 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
92% (35/38) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
C |
A |
11: 110,056,760 (GRCm39) |
W20L |
probably benign |
Het |
Adamts17 |
T |
A |
7: 66,711,818 (GRCm39) |
Y81* |
probably null |
Het |
Add3 |
A |
G |
19: 53,231,002 (GRCm39) |
E559G |
probably damaging |
Het |
Ahcyl2 |
A |
T |
6: 29,859,738 (GRCm39) |
K6M |
possibly damaging |
Het |
Asb3 |
A |
T |
11: 31,031,415 (GRCm39) |
N345I |
possibly damaging |
Het |
Carm1 |
T |
C |
9: 21,490,807 (GRCm39) |
|
probably null |
Het |
Ip6k2 |
T |
A |
9: 108,674,945 (GRCm39) |
|
probably benign |
Het |
Kdm4c |
T |
C |
4: 74,261,772 (GRCm39) |
L649P |
probably damaging |
Het |
Klra5 |
T |
C |
6: 129,876,352 (GRCm39) |
T152A |
probably benign |
Het |
Mars2 |
T |
C |
1: 55,276,468 (GRCm39) |
S24P |
possibly damaging |
Het |
Mfap2 |
A |
T |
4: 140,742,569 (GRCm39) |
T142S |
probably damaging |
Het |
Miga1 |
A |
C |
3: 152,028,098 (GRCm39) |
S144A |
possibly damaging |
Het |
Nalf1 |
A |
G |
8: 9,820,240 (GRCm39) |
V260A |
probably benign |
Het |
Or2l5 |
A |
T |
16: 19,334,285 (GRCm39) |
F34I |
probably damaging |
Het |
Or4d2b |
A |
G |
11: 87,779,801 (GRCm39) |
V307A |
probably benign |
Het |
Pate12 |
C |
A |
9: 36,343,198 (GRCm39) |
Q7K |
probably benign |
Het |
Pclo |
A |
G |
5: 14,764,381 (GRCm39) |
N4285D |
unknown |
Het |
Pex1 |
T |
C |
5: 3,672,331 (GRCm39) |
S725P |
probably damaging |
Het |
Pigg |
A |
G |
5: 108,480,015 (GRCm39) |
Y430C |
probably damaging |
Het |
Plcb2 |
A |
T |
2: 118,542,617 (GRCm39) |
L818Q |
probably benign |
Het |
Psmd5 |
A |
G |
2: 34,755,965 (GRCm39) |
|
probably benign |
Het |
Skint8 |
T |
C |
4: 111,785,845 (GRCm39) |
V97A |
probably damaging |
Het |
Tfap2b |
T |
C |
1: 19,296,666 (GRCm39) |
V185A |
probably benign |
Het |
Trim27 |
T |
C |
13: 21,374,134 (GRCm39) |
F294L |
probably damaging |
Het |
Trp53bp1 |
A |
T |
2: 121,100,800 (GRCm39) |
|
probably null |
Het |
Ttc28 |
T |
A |
5: 111,249,930 (GRCm39) |
H293Q |
possibly damaging |
Het |
Xkr5 |
T |
C |
8: 18,992,126 (GRCm39) |
T88A |
probably benign |
Het |
Xkr6 |
T |
G |
14: 64,056,515 (GRCm39) |
I142S |
unknown |
Het |
Zfp618 |
T |
C |
4: 63,021,789 (GRCm39) |
Y252H |
probably damaging |
Het |
Zfp790 |
C |
T |
7: 29,529,192 (GRCm39) |
H626Y |
probably benign |
Het |
Zfp809 |
A |
G |
9: 22,148,998 (GRCm39) |
D84G |
probably benign |
Het |
|
Other mutations in Pcdhgb6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00929:Pcdhgb6
|
APN |
18 |
37,876,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R4459:Pcdhgb6
|
UTSW |
18 |
37,875,759 (GRCm39) |
missense |
probably benign |
0.00 |
R4921:Pcdhgb6
|
UTSW |
18 |
37,876,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R5391:Pcdhgb6
|
UTSW |
18 |
37,875,640 (GRCm39) |
missense |
probably damaging |
0.97 |
R5828:Pcdhgb6
|
UTSW |
18 |
37,877,457 (GRCm39) |
missense |
probably benign |
0.00 |
R6056:Pcdhgb6
|
UTSW |
18 |
37,876,165 (GRCm39) |
missense |
probably benign |
0.01 |
R6242:Pcdhgb6
|
UTSW |
18 |
37,876,608 (GRCm39) |
missense |
probably benign |
0.00 |
R6375:Pcdhgb6
|
UTSW |
18 |
37,875,678 (GRCm39) |
missense |
probably damaging |
0.97 |
R6836:Pcdhgb6
|
UTSW |
18 |
37,876,015 (GRCm39) |
missense |
probably benign |
0.11 |
R6973:Pcdhgb6
|
UTSW |
18 |
37,875,526 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7185:Pcdhgb6
|
UTSW |
18 |
37,876,701 (GRCm39) |
missense |
probably benign |
0.42 |
R7994:Pcdhgb6
|
UTSW |
18 |
37,875,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R8095:Pcdhgb6
|
UTSW |
18 |
37,875,924 (GRCm39) |
missense |
probably benign |
0.00 |
R8460:Pcdhgb6
|
UTSW |
18 |
37,877,278 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8558:Pcdhgb6
|
UTSW |
18 |
37,877,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R8699:Pcdhgb6
|
UTSW |
18 |
37,875,975 (GRCm39) |
missense |
probably benign |
0.12 |
R8808:Pcdhgb6
|
UTSW |
18 |
37,876,451 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9350:Pcdhgb6
|
UTSW |
18 |
37,876,872 (GRCm39) |
missense |
probably benign |
0.00 |
R9668:Pcdhgb6
|
UTSW |
18 |
37,875,561 (GRCm39) |
missense |
probably benign |
0.02 |
R9707:Pcdhgb6
|
UTSW |
18 |
37,876,768 (GRCm39) |
missense |
possibly damaging |
0.49 |
R9765:Pcdhgb6
|
UTSW |
18 |
37,876,054 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Predicted Primers |
PCR Primer
(F):5'- TGACCCCGACATAAATTTGAATTCG -3'
(R):5'- AACACGTGTCTTGTGCTCTGC -3'
Sequencing Primer
(F):5'- CGGTTAAAGATTACCAGATAAGCTCC -3'
(R):5'- CGCAGTGCTCCGAAAGTAG -3'
|
Posted On |
2016-06-06 |