Incidental Mutation 'R5226:Pcdhgb7'
| ID |
402647 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhgb7
|
| Ensembl Gene |
ENSMUSG00000104063 |
| Gene Name |
protocadherin gamma subfamily B, 7 |
| Synonyms |
|
| MMRRC Submission |
042799-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R5226 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37884672-37974923 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37885577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 249
(V249A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000061279]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000194928]
[ENSMUST00000192931]
[ENSMUST00000193869]
[ENSMUST00000193404]
[ENSMUST00000192511]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000194544]
[ENSMUST00000192535]
[ENSMUST00000193414]
[ENSMUST00000195823]
[ENSMUST00000195363]
[ENSMUST00000195112]
|
| 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 benign
Transcript: ENSMUST00000194928
AA Change: V249A
PolyPhen 2
Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141997
Gene: ENSMUSG00000104063
AA Change: V249A
| 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: ENSMUST00000192501
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180931
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192805
|
| 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: 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: 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: 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: 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: 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: 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: ENSMUST00000193984
|
| 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: 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.3190 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (66/66) |
| 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 |
|---|
| 2010315B03Rik |
T |
C |
9: 124,056,706 (GRCm39) |
K98E |
possibly damaging |
Het |
| 4933414I15Rik |
A |
T |
11: 50,833,416 (GRCm39) |
M62K |
unknown |
Het |
| Akr1d1 |
T |
A |
6: 37,512,949 (GRCm39) |
|
probably null |
Het |
| Ankrd63 |
T |
C |
2: 118,533,736 (GRCm39) |
|
probably benign |
Het |
| Atad5 |
T |
C |
11: 79,985,888 (GRCm39) |
V325A |
probably damaging |
Het |
| Atp13a5 |
G |
T |
16: 29,067,031 (GRCm39) |
N1025K |
probably damaging |
Het |
| Atrnl1 |
G |
T |
19: 57,638,767 (GRCm39) |
V302L |
probably benign |
Het |
| Bend7 |
C |
A |
2: 4,757,789 (GRCm39) |
S277* |
probably null |
Het |
| Btnl7-ps |
A |
T |
17: 34,752,261 (GRCm39) |
|
noncoding transcript |
Het |
| Cbx4 |
T |
C |
11: 118,972,754 (GRCm39) |
Y207C |
probably damaging |
Het |
| Ctla2b |
C |
T |
13: 61,044,146 (GRCm39) |
W63* |
probably null |
Het |
| Cux1 |
T |
C |
5: 136,399,027 (GRCm39) |
T170A |
probably benign |
Het |
| Cyp3a57 |
T |
C |
5: 145,302,507 (GRCm39) |
V101A |
probably benign |
Het |
| Dao |
A |
T |
5: 114,159,094 (GRCm39) |
T267S |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,370,746 (GRCm39) |
D883G |
probably damaging |
Het |
| Dynlt4 |
A |
G |
4: 116,985,290 (GRCm39) |
T38A |
possibly damaging |
Het |
| Eif4g3 |
C |
A |
4: 137,824,105 (GRCm39) |
P36T |
possibly damaging |
Het |
| Elf3 |
G |
A |
1: 135,184,977 (GRCm39) |
L70F |
probably benign |
Het |
| Epb41l4a |
C |
T |
18: 33,943,366 (GRCm39) |
D510N |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,726,126 (GRCm39) |
S594P |
probably benign |
Het |
| Gm10722 |
T |
C |
9: 3,000,937 (GRCm39) |
C6R |
probably benign |
Het |
| Gpr132 |
T |
C |
12: 112,815,768 (GRCm39) |
T353A |
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,932,235 (GRCm39) |
D1343G |
probably benign |
Het |
| L3mbtl4 |
T |
A |
17: 69,071,717 (GRCm39) |
|
probably null |
Het |
| Lrit2 |
A |
G |
14: 36,794,310 (GRCm39) |
E458G |
probably damaging |
Het |
| Man1c1 |
A |
T |
4: 134,305,680 (GRCm39) |
I348N |
probably damaging |
Het |
| Map4k2 |
A |
G |
19: 6,396,534 (GRCm39) |
|
probably benign |
Het |
| Nt5c2 |
A |
C |
19: 46,887,068 (GRCm39) |
Y203D |
probably damaging |
Het |
| Oxgr1 |
A |
G |
14: 120,259,665 (GRCm39) |
S181P |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,443,416 (GRCm39) |
C400R |
probably benign |
Het |
| Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
| Plcg2 |
A |
T |
8: 118,304,613 (GRCm39) |
I273F |
possibly damaging |
Het |
| Plin1 |
A |
G |
7: 79,372,447 (GRCm39) |
V64A |
probably damaging |
Het |
| Ppfia4 |
C |
A |
1: 134,232,024 (GRCm39) |
|
probably null |
Het |
| Prkg2 |
A |
C |
5: 99,124,321 (GRCm39) |
D376E |
possibly damaging |
Het |
| Ptgir |
T |
A |
7: 16,642,645 (GRCm39) |
I82N |
probably damaging |
Het |
| Pum2 |
C |
T |
12: 8,763,458 (GRCm39) |
P205L |
possibly damaging |
Het |
| Rab26 |
T |
A |
17: 24,753,107 (GRCm39) |
|
probably benign |
Het |
| Recql4 |
T |
C |
15: 76,594,329 (GRCm39) |
E63G |
probably benign |
Het |
| Rora |
T |
A |
9: 69,271,423 (GRCm39) |
|
probably benign |
Het |
| Rp1 |
A |
C |
1: 4,418,256 (GRCm39) |
M952R |
probably benign |
Het |
| Rpap3 |
T |
A |
15: 97,601,104 (GRCm39) |
R44S |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc12a2 |
C |
A |
18: 58,012,092 (GRCm39) |
P72T |
probably damaging |
Het |
| Slc1a3 |
C |
T |
15: 8,671,709 (GRCm39) |
V416M |
probably damaging |
Het |
| Slfn4 |
A |
T |
11: 83,078,375 (GRCm39) |
M388L |
possibly damaging |
Het |
| Snrnp48 |
G |
A |
13: 38,389,093 (GRCm39) |
A49T |
probably benign |
Het |
| Tlx2 |
C |
T |
6: 83,045,911 (GRCm39) |
G228D |
possibly damaging |
Het |
| Tmem132a |
A |
G |
19: 10,844,508 (GRCm39) |
V30A |
possibly damaging |
Het |
| Tnfrsf23 |
C |
A |
7: 143,239,522 (GRCm39) |
L24F |
possibly damaging |
Het |
| Ubr2 |
A |
T |
17: 47,294,196 (GRCm39) |
N312K |
probably benign |
Het |
| Vmn1r115 |
C |
T |
7: 20,578,169 (GRCm39) |
V248I |
probably damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,029,874 (GRCm39) |
T567A |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,852,835 (GRCm39) |
T2372A |
probably benign |
Het |
| Wnt10b |
G |
T |
15: 98,674,495 (GRCm39) |
H81N |
probably damaging |
Het |
| Zfp948 |
A |
G |
17: 21,808,505 (GRCm39) |
T566A |
probably benign |
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 |
|
R5117:Pcdhgb7
|
UTSW |
18 |
37,885,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- TGGTGAAAGACAATCCTGATGG -3'
(R):5'- TGCCTCCACATCAATCGTATATTG -3'
Sequencing Primer
(F):5'- TGCTGACTGCTGTAGATG -3'
(R):5'- TTCTTCAAAATCCAACGACTGGCG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation