Incidental Mutation 'R5117:Pcdhgb7'
ID |
392713 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhgb7
|
Ensembl Gene |
ENSMUSG00000104063 |
Gene Name |
protocadherin gamma subfamily B, 7 |
Synonyms |
|
MMRRC Submission |
042705-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.109)
|
Stock # |
R5117 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37884672-37974923 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 37885939 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 370
(R370W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141997
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000061279]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000194928]
[ENSMUST00000194418]
[ENSMUST00000194190]
[ENSMUST00000193869]
[ENSMUST00000193414]
[ENSMUST00000192535]
[ENSMUST00000193404]
[ENSMUST00000192931]
[ENSMUST00000194544]
[ENSMUST00000192511]
[ENSMUST00000195112]
[ENSMUST00000195823]
[ENSMUST00000195363]
|
AlphaFold |
Q91XX3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003599
|
SMART Domains |
Protein: ENSMUSP00000003599 Gene: ENSMUSG00000103088
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: ENSMUST00000061279
|
SMART Domains |
Protein: ENSMUSP00000058362 Gene: ENSMUSG00000102742
Domain | Start | End | E-Value | Type |
CA
|
45 |
131 |
3.23e-2 |
SMART |
CA
|
155 |
240 |
2.22e-17 |
SMART |
CA
|
264 |
345 |
3.36e-26 |
SMART |
CA
|
369 |
450 |
7.09e-25 |
SMART |
CA
|
474 |
560 |
3.55e-25 |
SMART |
CA
|
591 |
669 |
2.53e-12 |
SMART |
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
low complexity region
|
914 |
933 |
N/A |
INTRINSIC |
|
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: ENSMUST00000180922
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000194928
AA Change: R370W
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000141997 Gene: ENSMUSG00000104063 AA Change: R370W
Domain | Start | End | E-Value | Type |
CA
|
47 |
131 |
2.48e-6 |
SMART |
CA
|
155 |
240 |
1.57e-17 |
SMART |
CA
|
264 |
343 |
1.29e-27 |
SMART |
CA
|
367 |
448 |
9.14e-28 |
SMART |
CA
|
472 |
558 |
1.24e-24 |
SMART |
CA
|
589 |
670 |
3.73e-10 |
SMART |
transmembrane domain
|
689 |
711 |
N/A |
INTRINSIC |
low complexity region
|
716 |
721 |
N/A |
INTRINSIC |
low complexity region
|
910 |
929 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192805
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180931
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192501
|
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: 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: 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: 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: 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 |
|
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: 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: 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 |
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: 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: 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 |
|
Meta Mutation Damage Score |
0.4711 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
Validation Efficiency |
100% (67/67) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
G |
A |
9: 124,055,715 (GRCm39) |
T403I |
probably benign |
Het |
4921509C19Rik |
T |
C |
2: 151,314,460 (GRCm39) |
E406G |
probably benign |
Het |
Abca8b |
T |
C |
11: 109,857,629 (GRCm39) |
E641G |
probably damaging |
Het |
Agrn |
T |
C |
4: 156,270,010 (GRCm39) |
N49S |
probably benign |
Het |
Cacna1b |
A |
G |
2: 24,622,340 (GRCm39) |
S215P |
probably damaging |
Het |
Cacna1g |
T |
A |
11: 94,323,329 (GRCm39) |
I1292F |
probably damaging |
Het |
Card14 |
T |
A |
11: 119,229,076 (GRCm39) |
I662N |
probably damaging |
Het |
Cep135 |
A |
G |
5: 76,779,276 (GRCm39) |
K762R |
probably benign |
Het |
Ces1b |
A |
G |
8: 93,799,837 (GRCm39) |
|
probably null |
Het |
Erich6 |
T |
G |
3: 58,530,626 (GRCm39) |
I448L |
probably benign |
Het |
Fads3 |
T |
G |
19: 10,019,322 (GRCm39) |
|
probably null |
Het |
Fam234a |
A |
G |
17: 26,432,512 (GRCm39) |
F546L |
probably benign |
Het |
Fbxl9 |
T |
A |
8: 106,039,492 (GRCm39) |
R595* |
probably null |
Het |
Gm10717 |
T |
C |
9: 3,025,625 (GRCm39) |
L70S |
probably benign |
Het |
Gm11787 |
G |
T |
4: 3,509,524 (GRCm39) |
|
noncoding transcript |
Het |
Gm5519 |
A |
G |
19: 33,802,471 (GRCm39) |
*171W |
probably null |
Het |
Grid2 |
T |
C |
6: 63,233,917 (GRCm39) |
I26T |
probably benign |
Het |
Hmcn2 |
T |
G |
2: 31,348,061 (GRCm39) |
C4902W |
possibly damaging |
Het |
Hsp90aa1 |
T |
C |
12: 110,661,698 (GRCm39) |
N106S |
possibly damaging |
Het |
Il18 |
A |
T |
9: 50,492,809 (GRCm39) |
N125I |
possibly damaging |
Het |
Ints9 |
G |
T |
14: 65,230,540 (GRCm39) |
E156* |
probably null |
Het |
Kalrn |
T |
C |
16: 33,853,971 (GRCm39) |
|
probably null |
Het |
Klkb1 |
A |
T |
8: 45,742,149 (GRCm39) |
D43E |
possibly damaging |
Het |
Lipo3 |
A |
T |
19: 33,536,952 (GRCm39) |
M256K |
probably benign |
Het |
Mapk6 |
C |
A |
9: 75,305,017 (GRCm39) |
M133I |
possibly damaging |
Het |
Med21 |
T |
A |
6: 146,548,781 (GRCm39) |
|
probably benign |
Het |
Myrf |
T |
A |
19: 10,189,857 (GRCm39) |
E984V |
probably damaging |
Het |
Naga |
A |
C |
15: 82,221,657 (GRCm39) |
M28R |
probably damaging |
Het |
Nphp4 |
T |
G |
4: 152,608,689 (GRCm39) |
|
probably null |
Het |
Nr1h4 |
T |
C |
10: 89,314,284 (GRCm39) |
N295D |
probably damaging |
Het |
Or10j27 |
T |
C |
1: 172,958,484 (GRCm39) |
Q100R |
possibly damaging |
Het |
Or13n4 |
A |
T |
7: 106,422,869 (GRCm39) |
I288N |
probably damaging |
Het |
Or55b3 |
T |
C |
7: 102,126,709 (GRCm39) |
M123V |
probably damaging |
Het |
Parp9 |
C |
A |
16: 35,792,202 (GRCm39) |
|
probably null |
Het |
Pax4 |
T |
C |
6: 28,446,278 (GRCm39) |
I72V |
probably benign |
Het |
Pcdh7 |
A |
G |
5: 57,879,090 (GRCm39) |
I542V |
probably benign |
Het |
Pik3r1 |
G |
A |
13: 101,828,744 (GRCm39) |
T18I |
probably benign |
Het |
Ppara |
A |
G |
15: 85,661,962 (GRCm39) |
I68V |
probably benign |
Het |
Ptch2 |
T |
A |
4: 116,963,146 (GRCm39) |
I211N |
probably damaging |
Het |
Senp6 |
G |
A |
9: 80,038,028 (GRCm39) |
V715M |
probably damaging |
Het |
Serf2 |
C |
T |
2: 121,281,184 (GRCm39) |
P41L |
possibly damaging |
Het |
Serpina12 |
T |
C |
12: 104,004,009 (GRCm39) |
I208V |
possibly damaging |
Het |
Serpinf2 |
T |
C |
11: 75,323,326 (GRCm39) |
D460G |
probably benign |
Het |
Sh3d21 |
T |
C |
4: 126,045,665 (GRCm39) |
E338G |
probably damaging |
Het |
Slc7a11 |
T |
C |
3: 50,333,599 (GRCm39) |
D384G |
probably damaging |
Het |
Snx15 |
A |
G |
19: 6,174,181 (GRCm39) |
|
probably null |
Het |
Supt16 |
A |
G |
14: 52,420,549 (GRCm39) |
F84L |
probably damaging |
Het |
Tamalin |
A |
G |
15: 101,128,418 (GRCm39) |
D152G |
probably damaging |
Het |
Thoc2l |
A |
G |
5: 104,668,121 (GRCm39) |
Y881C |
probably damaging |
Het |
Tm9sf2 |
C |
A |
14: 122,380,913 (GRCm39) |
Q169K |
probably benign |
Het |
Trim56 |
A |
T |
5: 137,142,832 (GRCm39) |
V228E |
probably benign |
Het |
Triqk |
T |
A |
4: 12,980,390 (GRCm39) |
|
probably null |
Het |
Ttc21a |
T |
A |
9: 119,795,631 (GRCm39) |
I1155N |
possibly damaging |
Het |
Ube3b |
T |
G |
5: 114,557,692 (GRCm39) |
Y1059D |
probably damaging |
Het |
Vmn2r14 |
T |
C |
5: 109,363,961 (GRCm39) |
T652A |
probably benign |
Het |
Wdr4 |
A |
G |
17: 31,718,798 (GRCm39) |
V304A |
probably benign |
Het |
Wwp2 |
T |
C |
8: 108,280,694 (GRCm39) |
S646P |
possibly damaging |
Het |
Zfand5 |
T |
A |
19: 21,257,009 (GRCm39) |
S130T |
probably benign |
Het |
Zfp599 |
A |
T |
9: 22,161,396 (GRCm39) |
Y256* |
probably null |
Het |
Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
Zfyve16 |
T |
A |
13: 92,642,197 (GRCm39) |
I1209L |
possibly damaging |
Het |
|
Other mutations in Pcdhgb7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03134:Pcdhgb7
|
UTSW |
18 |
37,884,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R3820:Pcdhgb7
|
UTSW |
18 |
37,885,286 (GRCm39) |
missense |
possibly damaging |
0.79 |
R3821:Pcdhgb7
|
UTSW |
18 |
37,885,286 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4014:Pcdhgb7
|
UTSW |
18 |
37,885,416 (GRCm39) |
missense |
probably benign |
0.01 |
R4223:Pcdhgb7
|
UTSW |
18 |
37,886,856 (GRCm39) |
missense |
probably benign |
0.06 |
R4224:Pcdhgb7
|
UTSW |
18 |
37,886,856 (GRCm39) |
missense |
probably benign |
0.06 |
R4225:Pcdhgb7
|
UTSW |
18 |
37,886,856 (GRCm39) |
missense |
probably benign |
0.06 |
R4366:Pcdhgb7
|
UTSW |
18 |
37,887,125 (GRCm39) |
missense |
possibly damaging |
0.62 |
R4622:Pcdhgb7
|
UTSW |
18 |
37,886,183 (GRCm39) |
missense |
probably benign |
0.00 |
R5226:Pcdhgb7
|
UTSW |
18 |
37,885,577 (GRCm39) |
missense |
probably benign |
0.32 |
R5253:Pcdhgb7
|
UTSW |
18 |
37,886,150 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5317:Pcdhgb7
|
UTSW |
18 |
37,885,887 (GRCm39) |
missense |
probably benign |
0.01 |
R6183:Pcdhgb7
|
UTSW |
18 |
37,885,315 (GRCm39) |
missense |
probably damaging |
0.97 |
R6497:Pcdhgb7
|
UTSW |
18 |
37,886,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R6590:Pcdhgb7
|
UTSW |
18 |
37,886,050 (GRCm39) |
missense |
probably benign |
0.00 |
R6690:Pcdhgb7
|
UTSW |
18 |
37,886,050 (GRCm39) |
missense |
probably benign |
0.00 |
R7022:Pcdhgb7
|
UTSW |
18 |
37,886,086 (GRCm39) |
missense |
probably damaging |
0.98 |
R7703:Pcdhgb7
|
UTSW |
18 |
37,885,321 (GRCm39) |
missense |
probably benign |
|
R8473:Pcdhgb7
|
UTSW |
18 |
37,886,852 (GRCm39) |
missense |
probably benign |
0.00 |
R8859:Pcdhgb7
|
UTSW |
18 |
37,886,349 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8873:Pcdhgb7
|
UTSW |
18 |
37,886,575 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8970:Pcdhgb7
|
UTSW |
18 |
37,885,631 (GRCm39) |
missense |
probably benign |
0.00 |
R8995:Pcdhgb7
|
UTSW |
18 |
37,885,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R9280:Pcdhgb7
|
UTSW |
18 |
37,886,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R9370:Pcdhgb7
|
UTSW |
18 |
37,884,937 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9439:Pcdhgb7
|
UTSW |
18 |
37,884,917 (GRCm39) |
missense |
probably benign |
0.06 |
R9523:Pcdhgb7
|
UTSW |
18 |
37,886,636 (GRCm39) |
missense |
probably damaging |
1.00 |
R9803:Pcdhgb7
|
UTSW |
18 |
37,885,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAATATACGATTGATGTGGAGGC -3'
(R):5'- ACAGGTGCATTGTCGTTGAC -3'
Sequencing Primer
(F):5'- GCAAAGGACCGAGGATCTCTTTC -3'
(R):5'- TTGACATCAGCGACGTTCAG -3'
|
Posted On |
2016-06-15 |