Incidental Mutation 'R7703:Pcdhgb7'
ID |
594156 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhgb7
|
Ensembl Gene |
ENSMUSG00000104063 |
Gene Name |
protocadherin gamma subfamily B, 7 |
Synonyms |
|
MMRRC Submission |
045764-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.109)
|
Stock # |
R7703 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37884672-37974923 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 37885321 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 164
(M164L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141997
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000061279]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000194928]
[ENSMUST00000192511]
[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: ENSMUST00000194928
AA Change: M164L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000141997 Gene: ENSMUSG00000104063 AA Change: M164L
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: 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: 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: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810065E05Rik |
T |
C |
11: 58,316,593 (GRCm39) |
I191T |
probably damaging |
Het |
2310003L06Rik |
T |
C |
5: 88,120,671 (GRCm39) |
L476P |
possibly damaging |
Het |
Aasdh |
T |
C |
5: 77,035,924 (GRCm39) |
D387G |
probably damaging |
Het |
Ahsa2 |
T |
A |
11: 23,440,415 (GRCm39) |
T327S |
probably benign |
Het |
Ap3d1 |
A |
T |
10: 80,553,678 (GRCm39) |
V523E |
probably damaging |
Het |
Baz2b |
C |
A |
2: 59,747,769 (GRCm39) |
R1298L |
probably damaging |
Het |
Cacna2d3 |
T |
C |
14: 28,765,503 (GRCm39) |
T802A |
possibly damaging |
Het |
Cdh23 |
G |
T |
10: 60,173,043 (GRCm39) |
T1714K |
probably damaging |
Het |
Chrna3 |
A |
T |
9: 54,923,408 (GRCm39) |
D133E |
probably benign |
Het |
Cnot1 |
C |
T |
8: 96,486,726 (GRCm39) |
|
probably null |
Het |
Col16a1 |
A |
T |
4: 129,990,295 (GRCm39) |
N1396Y |
unknown |
Het |
Cox11 |
A |
G |
11: 90,529,245 (GRCm39) |
N77S |
probably benign |
Het |
Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
Cytip |
A |
G |
2: 58,037,920 (GRCm39) |
V148A |
probably damaging |
Het |
Diaph1 |
T |
C |
18: 38,023,862 (GRCm39) |
I659V |
unknown |
Het |
Dmxl2 |
A |
T |
9: 54,368,370 (GRCm39) |
M26K |
probably benign |
Het |
Erp44 |
T |
A |
4: 48,196,904 (GRCm39) |
I340F |
probably benign |
Het |
Fam186a |
A |
G |
15: 99,852,678 (GRCm39) |
M180T |
unknown |
Het |
Frem2 |
C |
T |
3: 53,429,589 (GRCm39) |
V2793I |
probably benign |
Het |
Gm19410 |
A |
G |
8: 36,266,539 (GRCm39) |
E1064G |
probably damaging |
Het |
Gria4 |
T |
C |
9: 4,503,588 (GRCm39) |
I343V |
probably benign |
Het |
Grsf1 |
T |
A |
5: 88,819,150 (GRCm39) |
N228Y |
probably damaging |
Het |
H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
Ighv1-18 |
A |
T |
12: 114,646,381 (GRCm39) |
N74K |
probably benign |
Het |
Kcnh6 |
A |
T |
11: 105,914,703 (GRCm39) |
T703S |
probably benign |
Het |
Lrp1b |
T |
A |
2: 41,000,798 (GRCm39) |
D2256V |
|
Het |
Lrrc63 |
T |
C |
14: 75,360,447 (GRCm39) |
T352A |
possibly damaging |
Het |
Lztfl1 |
T |
C |
9: 123,531,194 (GRCm39) |
E258G |
probably damaging |
Het |
Mcph1 |
T |
C |
8: 18,721,122 (GRCm39) |
I650T |
possibly damaging |
Het |
Mep1a |
T |
C |
17: 43,788,997 (GRCm39) |
D606G |
possibly damaging |
Het |
Muc16 |
T |
C |
9: 18,516,578 (GRCm39) |
I313M |
|
Het |
Myh7b |
A |
G |
2: 155,462,356 (GRCm39) |
Y353C |
probably null |
Het |
Nfatc1 |
A |
G |
18: 80,725,504 (GRCm39) |
L420P |
probably damaging |
Het |
Olfml1 |
A |
G |
7: 107,170,392 (GRCm39) |
E93G |
probably damaging |
Het |
Or6b1 |
A |
T |
6: 42,814,938 (GRCm39) |
E41V |
probably damaging |
Het |
Or8c11 |
A |
G |
9: 38,289,357 (GRCm39) |
H54R |
probably benign |
Het |
Pax1 |
A |
T |
2: 147,208,034 (GRCm39) |
N214I |
probably damaging |
Het |
Pcdhb17 |
C |
A |
18: 37,619,801 (GRCm39) |
H530Q |
probably benign |
Het |
Pcolce |
T |
C |
5: 137,603,474 (GRCm39) |
N453S |
probably benign |
Het |
Prr36 |
T |
C |
8: 4,262,982 (GRCm39) |
T895A |
probably benign |
Het |
Ptprq |
C |
T |
10: 107,480,007 (GRCm39) |
V1088I |
probably benign |
Het |
Rab5a |
T |
A |
17: 53,807,485 (GRCm39) |
F174I |
probably damaging |
Het |
Rapgef4 |
A |
G |
2: 72,010,315 (GRCm39) |
D291G |
probably benign |
Het |
Rbm25 |
A |
T |
12: 83,721,864 (GRCm39) |
K683N |
possibly damaging |
Het |
Rbpj |
T |
C |
5: 53,803,240 (GRCm39) |
I156T |
probably damaging |
Het |
Rgsl1 |
A |
G |
1: 153,669,610 (GRCm39) |
S259P |
possibly damaging |
Het |
Ring1 |
T |
C |
17: 34,242,109 (GRCm39) |
D100G |
probably damaging |
Het |
Ryr3 |
A |
T |
2: 112,690,110 (GRCm39) |
D1166E |
probably damaging |
Het |
Sacs |
A |
G |
14: 61,443,539 (GRCm39) |
K1862E |
possibly damaging |
Het |
Scamp5 |
A |
G |
9: 57,354,465 (GRCm39) |
I63T |
possibly damaging |
Het |
Septin14 |
C |
T |
5: 129,763,092 (GRCm39) |
A334T |
possibly damaging |
Het |
Sh3rf2 |
A |
T |
18: 42,289,201 (GRCm39) |
Q706L |
probably benign |
Het |
Skap2 |
A |
T |
6: 51,884,934 (GRCm39) |
H242Q |
probably benign |
Het |
Spmap2l |
T |
C |
5: 77,164,444 (GRCm39) |
I149T |
probably benign |
Het |
Tfpt |
A |
G |
7: 3,623,744 (GRCm39) |
|
probably null |
Het |
Thg1l |
T |
G |
11: 45,846,120 (GRCm39) |
D58A |
probably damaging |
Het |
Thyn1 |
A |
G |
9: 26,918,143 (GRCm39) |
E177G |
probably benign |
Het |
Tmem151b |
C |
T |
17: 45,856,724 (GRCm39) |
A239T |
probably damaging |
Het |
Ttc21a |
T |
C |
9: 119,788,095 (GRCm39) |
V840A |
probably benign |
Het |
Usp32 |
A |
T |
11: 84,968,153 (GRCm39) |
V170E |
probably damaging |
Het |
Vmn2r29 |
A |
G |
7: 7,234,864 (GRCm39) |
V674A |
probably benign |
Het |
Vwa8 |
A |
G |
14: 79,263,513 (GRCm39) |
N781S |
probably damaging |
Het |
Zbtb7c |
C |
A |
18: 76,270,433 (GRCm39) |
Q174K |
probably benign |
Het |
Zeb1 |
T |
C |
18: 5,766,917 (GRCm39) |
I476T |
probably benign |
Het |
Zfp91 |
A |
T |
19: 12,754,241 (GRCm39) |
D282E |
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 |
R7022:Pcdhgb7
|
UTSW |
18 |
37,886,086 (GRCm39) |
missense |
probably damaging |
0.98 |
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'- GTTGGAAGCTGTGCTAGAAAAC -3'
(R):5'- CGGTTATCATTGGCGTCCAC -3'
Sequencing Primer
(F):5'- GATCACGCTCCTCAATTTC -3'
(R):5'- TTCGGAGCTGAGTAGTACCAGTAC -3'
|
Posted On |
2019-11-12 |