Incidental Mutation 'R7022:Pcdhgb7'
| ID |
545728 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhgb7
|
| Ensembl Gene |
ENSMUSG00000104063 |
| Gene Name |
protocadherin gamma subfamily B, 7 |
| Synonyms |
|
| MMRRC Submission |
045123-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R7022 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37884672-37974923 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37886086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 419
(T419A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000061279]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000192511]
[ENSMUST00000194928]
[ENSMUST00000192535]
[ENSMUST00000192931]
[ENSMUST00000193404]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000194544]
[ENSMUST00000195112]
[ENSMUST00000195363]
[ENSMUST00000195823]
|
| 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 |
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 damaging
Transcript: ENSMUST00000194928
AA Change: T419A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141997
Gene: ENSMUSG00000104063
AA Change: T419A
| 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 |
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: 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: 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: 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 |
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: 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (75/75) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,974,326 (GRCm39) |
S203T |
probably damaging |
Het |
| Adat1 |
A |
T |
8: 112,716,494 (GRCm39) |
M76K |
probably damaging |
Het |
| Ankrd33 |
G |
C |
15: 101,014,780 (GRCm39) |
V56L |
probably benign |
Het |
| Ascc3 |
T |
A |
10: 50,592,725 (GRCm39) |
L1134I |
possibly damaging |
Het |
| C3 |
T |
G |
17: 57,524,286 (GRCm39) |
D948A |
probably damaging |
Het |
| Ccdc121rt3 |
A |
C |
5: 112,503,395 (GRCm39) |
M103R |
probably benign |
Het |
| Ccdc40 |
A |
G |
11: 119,122,612 (GRCm39) |
E138G |
possibly damaging |
Het |
| Cd80 |
A |
G |
16: 38,306,866 (GRCm39) |
|
probably null |
Het |
| Cdca7 |
T |
A |
2: 72,309,873 (GRCm39) |
|
probably null |
Het |
| Chit1 |
A |
G |
1: 134,079,030 (GRCm39) |
S447G |
probably benign |
Het |
| Cmya5 |
C |
T |
13: 93,205,786 (GRCm39) |
|
probably null |
Het |
| Cnnm2 |
A |
T |
19: 46,750,989 (GRCm39) |
I260F |
probably damaging |
Het |
| Cnnm2 |
T |
A |
19: 46,847,379 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
T |
C |
6: 4,534,639 (GRCm39) |
L881P |
unknown |
Het |
| Crebbp |
A |
T |
16: 3,935,187 (GRCm39) |
S901T |
probably damaging |
Het |
| Dcun1d2 |
T |
C |
8: 13,321,637 (GRCm39) |
Y158C |
probably damaging |
Het |
| Dnhd1 |
C |
T |
7: 105,370,005 (GRCm39) |
P4477S |
probably benign |
Het |
| Donson |
A |
G |
16: 91,478,218 (GRCm39) |
Y428H |
probably damaging |
Het |
| Dsp |
G |
T |
13: 38,375,716 (GRCm39) |
W1167L |
probably benign |
Het |
| Elmo2 |
C |
T |
2: 165,136,961 (GRCm39) |
V592M |
probably damaging |
Het |
| Enpp3 |
T |
A |
10: 24,702,093 (GRCm39) |
E60D |
probably damaging |
Het |
| Erfl |
A |
T |
7: 24,631,089 (GRCm39) |
|
probably null |
Het |
| Fam83b |
TAAGA |
T |
9: 76,409,394 (GRCm39) |
|
probably null |
Het |
| Fbxo38 |
A |
G |
18: 62,669,295 (GRCm39) |
C52R |
probably damaging |
Het |
| Gm10912 |
T |
C |
2: 103,897,055 (GRCm39) |
W65R |
probably damaging |
Het |
| Gm43518 |
A |
T |
5: 124,074,490 (GRCm39) |
M44L |
probably benign |
Het |
| Gnb1 |
T |
A |
4: 155,637,913 (GRCm39) |
D212E |
probably damaging |
Het |
| Gnl1 |
A |
G |
17: 36,299,620 (GRCm39) |
N597S |
probably damaging |
Het |
| Gprin1 |
T |
G |
13: 54,886,855 (GRCm39) |
E473A |
probably benign |
Het |
| Ighv1-69 |
T |
A |
12: 115,586,834 (GRCm39) |
M100L |
probably benign |
Het |
| Igkv14-100 |
T |
C |
6: 68,496,193 (GRCm39) |
S29P |
probably damaging |
Het |
| Ints6 |
A |
G |
14: 62,951,786 (GRCm39) |
V232A |
probably damaging |
Het |
| Jup |
A |
G |
11: 100,270,379 (GRCm39) |
L376P |
probably damaging |
Het |
| Kdr |
A |
T |
5: 76,132,920 (GRCm39) |
Y119* |
probably null |
Het |
| Kif1a |
T |
G |
1: 92,993,820 (GRCm39) |
T377P |
probably benign |
Het |
| Lama5 |
C |
A |
2: 179,822,524 (GRCm39) |
V2850L |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,313,552 (GRCm39) |
Y2393C |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,356,763 (GRCm39) |
Q255* |
probably null |
Het |
| Msh3 |
A |
C |
13: 92,372,096 (GRCm39) |
D891E |
probably damaging |
Het |
| Msl2 |
A |
G |
9: 100,957,335 (GRCm39) |
N2D |
possibly damaging |
Het |
| Myo19 |
T |
C |
11: 84,791,373 (GRCm39) |
L476P |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,467,686 (GRCm39) |
R501W |
probably damaging |
Het |
| Nfasc |
C |
A |
1: 132,548,787 (GRCm39) |
K293N |
probably damaging |
Het |
| Npbwr1 |
A |
T |
1: 5,987,319 (GRCm39) |
L65Q |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,401,825 (GRCm39) |
D34E |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,220,871 (GRCm39) |
V1891D |
probably benign |
Het |
| Or51g2 |
T |
A |
7: 102,623,175 (GRCm39) |
N8I |
possibly damaging |
Het |
| Or5g29 |
T |
A |
2: 85,420,942 (GRCm39) |
D19E |
probably benign |
Het |
| Or5k1b |
T |
C |
16: 58,581,482 (GRCm39) |
N19S |
probably benign |
Het |
| Or8g22 |
G |
T |
9: 38,958,379 (GRCm39) |
C156* |
probably null |
Het |
| Oscp1 |
G |
A |
4: 125,976,783 (GRCm39) |
|
probably null |
Het |
| Pdzph1 |
T |
C |
17: 59,281,121 (GRCm39) |
D387G |
probably benign |
Het |
| Phc1 |
A |
G |
6: 122,311,990 (GRCm39) |
F56S |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,599,061 (GRCm39) |
E59G |
possibly damaging |
Het |
| Prickle1 |
G |
T |
15: 93,398,752 (GRCm39) |
T692K |
possibly damaging |
Het |
| Rbm45 |
T |
A |
2: 76,206,738 (GRCm39) |
L250Q |
probably damaging |
Het |
| Ror1 |
T |
A |
4: 100,265,108 (GRCm39) |
M194K |
probably damaging |
Het |
| Rrbp1 |
T |
A |
2: 143,799,722 (GRCm39) |
|
probably null |
Het |
| Rundc3b |
T |
C |
5: 8,562,348 (GRCm39) |
K340R |
probably null |
Het |
| Scn1a |
T |
A |
2: 66,148,243 (GRCm39) |
T1101S |
probably damaging |
Het |
| Sdk1 |
C |
G |
5: 142,080,412 (GRCm39) |
|
probably null |
Het |
| Skic2 |
A |
G |
17: 35,064,183 (GRCm39) |
F501S |
possibly damaging |
Het |
| Slc20a1 |
T |
A |
2: 129,041,979 (GRCm39) |
M114K |
probably damaging |
Het |
| Sorl1 |
A |
C |
9: 41,881,047 (GRCm39) |
I2158S |
probably benign |
Het |
| Strip1 |
A |
T |
3: 107,534,111 (GRCm39) |
F174L |
probably benign |
Het |
| Sucnr1 |
A |
T |
3: 59,993,699 (GRCm39) |
I76L |
probably benign |
Het |
| Syt17 |
C |
T |
7: 118,007,242 (GRCm39) |
V412I |
probably benign |
Het |
| Tie1 |
T |
A |
4: 118,346,850 (GRCm39) |
H18L |
probably benign |
Het |
| Tpp1 |
T |
G |
7: 105,398,129 (GRCm39) |
K345Q |
probably damaging |
Het |
| Trcg1 |
G |
A |
9: 57,148,852 (GRCm39) |
M141I |
possibly damaging |
Het |
| Trpc4ap |
T |
C |
2: 155,499,742 (GRCm39) |
N260S |
probably benign |
Het |
| Vps41 |
C |
A |
13: 19,026,438 (GRCm39) |
T512K |
possibly damaging |
Het |
| Vps52 |
A |
T |
17: 34,178,293 (GRCm39) |
M147L |
probably benign |
Het |
| Ywhaq |
A |
G |
12: 21,441,752 (GRCm39) |
|
probably benign |
Het |
| Zfp619 |
A |
G |
7: 39,184,387 (GRCm39) |
N139S |
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 |
|
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 |
|
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'- TCCTTCCGGAACTGTTGTGG -3'
(R):5'- CGCTGGCTATGATGGAGTAG -3'
Sequencing Primer
(F):5'- GAACTGTTGTGGCCCTCTTCAAG -3'
(R):5'- AGGCCATTGGATCCCACATCTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation