Incidental Mutation 'R0576:Pcdhb7'
ID |
56246 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhb7
|
Ensembl Gene |
ENSMUSG00000045062 |
Gene Name |
protocadherin beta 7 |
Synonyms |
PcdhbG, Pcdhb4B |
MMRRC Submission |
038766-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R0576 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37474755-37478255 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 37475410 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 182
(L182Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051041
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053037]
[ENSMUST00000061717]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
AlphaFold |
Q8CDY9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053037
AA Change: L182Q
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000051041 Gene: ENSMUSG00000045062 AA Change: L182Q
Domain | Start | End | E-Value | Type |
Pfam:Cadherin_2
|
61 |
143 |
1.4e-32 |
PFAM |
CA
|
186 |
271 |
5.47e-17 |
SMART |
CA
|
295 |
376 |
4.43e-26 |
SMART |
CA
|
399 |
480 |
1.04e-22 |
SMART |
CA
|
504 |
590 |
2.12e-23 |
SMART |
CA
|
620 |
701 |
5.73e-11 |
SMART |
Pfam:Cadherin_C_2
|
718 |
801 |
5.5e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000061717
|
SMART Domains |
Protein: ENSMUSP00000058592 Gene: ENSMUSG00000051678
Domain | Start | End | E-Value | Type |
Pfam:Cadherin_2
|
30 |
112 |
2.7e-33 |
PFAM |
CA
|
155 |
240 |
1.48e-22 |
SMART |
CA
|
264 |
344 |
3.02e-28 |
SMART |
CA
|
367 |
448 |
1.69e-22 |
SMART |
CA
|
472 |
558 |
1.65e-25 |
SMART |
CA
|
588 |
669 |
6.24e-12 |
SMART |
Pfam:Cadherin_C_2
|
685 |
768 |
4.7e-26 |
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: ENSMUST00000193984
|
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.6%
- 20x: 94.9%
|
Validation Efficiency |
92% (47/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccdc77 |
T |
A |
6: 120,308,809 (GRCm39) |
L335F |
probably benign |
Het |
Ccr3 |
T |
A |
9: 123,829,046 (GRCm39) |
F127Y |
probably damaging |
Het |
Cfap43 |
T |
C |
19: 47,785,579 (GRCm39) |
N437S |
probably benign |
Het |
Cfh |
A |
G |
1: 140,064,553 (GRCm39) |
V365A |
probably damaging |
Het |
Copg1 |
T |
A |
6: 87,874,945 (GRCm39) |
V380D |
probably damaging |
Het |
Cxxc1 |
T |
C |
18: 74,353,256 (GRCm39) |
I497T |
possibly damaging |
Het |
Disp3 |
G |
A |
4: 148,326,047 (GRCm39) |
T1237I |
possibly damaging |
Het |
Dnaaf9 |
A |
T |
2: 130,555,390 (GRCm39) |
F839L |
probably benign |
Het |
Dnah7a |
A |
T |
1: 53,675,246 (GRCm39) |
F360L |
probably benign |
Het |
Dnhd1 |
C |
T |
7: 105,363,252 (GRCm39) |
A3938V |
probably damaging |
Het |
Eif4g1 |
A |
G |
16: 20,502,818 (GRCm39) |
D1000G |
probably damaging |
Het |
Emsy |
A |
T |
7: 98,242,983 (GRCm39) |
V1052D |
probably damaging |
Het |
Ep400 |
A |
G |
5: 110,858,959 (GRCm39) |
|
probably benign |
Het |
Fa2h |
T |
C |
8: 112,082,779 (GRCm39) |
H146R |
probably damaging |
Het |
Gad1 |
G |
A |
2: 70,424,996 (GRCm39) |
C430Y |
probably benign |
Het |
Gtse1 |
T |
C |
15: 85,753,252 (GRCm39) |
S456P |
probably damaging |
Het |
Gucy2g |
T |
C |
19: 55,187,202 (GRCm39) |
T1073A |
probably damaging |
Het |
Hectd2 |
T |
G |
19: 36,562,897 (GRCm39) |
N3K |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,525,768 (GRCm39) |
C3318* |
probably null |
Het |
Lipo2 |
C |
T |
19: 33,726,824 (GRCm39) |
S71N |
probably benign |
Het |
Mynn |
G |
T |
3: 30,661,217 (GRCm39) |
D100Y |
probably damaging |
Het |
Myo16 |
G |
A |
8: 10,612,318 (GRCm39) |
|
probably null |
Het |
Npr2 |
G |
T |
4: 43,640,947 (GRCm39) |
K384N |
probably benign |
Het |
Nrde2 |
A |
G |
12: 100,098,492 (GRCm39) |
V725A |
possibly damaging |
Het |
Or11h23 |
T |
A |
14: 50,948,661 (GRCm39) |
S291R |
probably damaging |
Het |
Or2l13 |
A |
G |
16: 19,305,938 (GRCm39) |
M117V |
probably damaging |
Het |
Otud7a |
C |
T |
7: 63,335,266 (GRCm39) |
P101S |
possibly damaging |
Het |
Pdss1 |
A |
G |
2: 22,805,425 (GRCm39) |
|
probably null |
Het |
Ppargc1b |
T |
A |
18: 61,444,512 (GRCm39) |
H233L |
probably damaging |
Het |
Ppm1b |
A |
G |
17: 85,320,987 (GRCm39) |
|
probably null |
Het |
Prdm14 |
A |
T |
1: 13,195,949 (GRCm39) |
S37R |
possibly damaging |
Het |
Prss45 |
A |
G |
9: 110,667,497 (GRCm39) |
T39A |
probably benign |
Het |
Qars1 |
T |
C |
9: 108,392,161 (GRCm39) |
|
probably benign |
Het |
Rxfp2 |
T |
G |
5: 149,961,712 (GRCm39) |
H77Q |
probably benign |
Het |
Scd4 |
A |
G |
19: 44,329,685 (GRCm39) |
M219V |
probably benign |
Het |
Sec24b |
G |
T |
3: 129,834,985 (GRCm39) |
P71Q |
probably benign |
Het |
Snd1 |
T |
G |
6: 28,886,576 (GRCm39) |
V861G |
probably benign |
Het |
Sspo |
A |
G |
6: 48,441,876 (GRCm39) |
|
probably null |
Het |
Tas2r129 |
A |
G |
6: 132,928,497 (GRCm39) |
T145A |
probably benign |
Het |
Tbc1d31 |
T |
A |
15: 57,833,120 (GRCm39) |
I953N |
possibly damaging |
Het |
Tlr4 |
A |
G |
4: 66,757,732 (GRCm39) |
N175S |
probably benign |
Het |
Tspyl4 |
A |
G |
10: 34,174,518 (GRCm39) |
N337D |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,642,545 (GRCm39) |
L13330H |
probably damaging |
Het |
Usp33 |
T |
A |
3: 152,089,756 (GRCm39) |
Y765* |
probably null |
Het |
Vmn2r59 |
T |
A |
7: 41,696,529 (GRCm39) |
Y71F |
probably benign |
Het |
Zbed6 |
A |
G |
1: 133,585,576 (GRCm39) |
F587S |
probably benign |
Het |
Zfhx4 |
T |
C |
3: 5,467,161 (GRCm39) |
S2465P |
probably damaging |
Het |
|
Other mutations in Pcdhb7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01668:Pcdhb7
|
APN |
18 |
37,476,205 (GRCm39) |
missense |
probably benign |
0.35 |
IGL01806:Pcdhb7
|
APN |
18 |
37,475,548 (GRCm39) |
missense |
possibly damaging |
0.60 |
IGL01862:Pcdhb7
|
APN |
18 |
37,476,915 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL01961:Pcdhb7
|
APN |
18 |
37,475,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R0184:Pcdhb7
|
UTSW |
18 |
37,476,443 (GRCm39) |
missense |
probably benign |
0.44 |
R0426:Pcdhb7
|
UTSW |
18 |
37,475,857 (GRCm39) |
missense |
probably damaging |
0.99 |
R0646:Pcdhb7
|
UTSW |
18 |
37,476,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R0656:Pcdhb7
|
UTSW |
18 |
37,474,954 (GRCm39) |
missense |
probably benign |
0.01 |
R1216:Pcdhb7
|
UTSW |
18 |
37,476,927 (GRCm39) |
missense |
probably damaging |
0.99 |
R1851:Pcdhb7
|
UTSW |
18 |
37,475,631 (GRCm39) |
missense |
possibly damaging |
0.69 |
R2168:Pcdhb7
|
UTSW |
18 |
37,476,335 (GRCm39) |
missense |
probably benign |
0.05 |
R2312:Pcdhb7
|
UTSW |
18 |
37,475,250 (GRCm39) |
missense |
probably benign |
|
R3153:Pcdhb7
|
UTSW |
18 |
37,476,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R3758:Pcdhb7
|
UTSW |
18 |
37,476,079 (GRCm39) |
missense |
possibly damaging |
0.84 |
R3763:Pcdhb7
|
UTSW |
18 |
37,474,936 (GRCm39) |
missense |
probably benign |
|
R3940:Pcdhb7
|
UTSW |
18 |
37,477,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R3949:Pcdhb7
|
UTSW |
18 |
37,476,141 (GRCm39) |
missense |
probably benign |
0.00 |
R4418:Pcdhb7
|
UTSW |
18 |
37,476,535 (GRCm39) |
missense |
probably benign |
0.08 |
R4580:Pcdhb7
|
UTSW |
18 |
37,475,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R4880:Pcdhb7
|
UTSW |
18 |
37,475,284 (GRCm39) |
missense |
probably benign |
0.00 |
R4936:Pcdhb7
|
UTSW |
18 |
37,475,203 (GRCm39) |
missense |
probably damaging |
1.00 |
R4936:Pcdhb7
|
UTSW |
18 |
37,475,202 (GRCm39) |
nonsense |
probably null |
|
R5086:Pcdhb7
|
UTSW |
18 |
37,476,162 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5517:Pcdhb7
|
UTSW |
18 |
37,474,846 (GRCm39) |
intron |
probably benign |
|
R5570:Pcdhb7
|
UTSW |
18 |
37,477,224 (GRCm39) |
missense |
probably benign |
0.35 |
R5827:Pcdhb7
|
UTSW |
18 |
37,475,077 (GRCm39) |
missense |
probably benign |
0.14 |
R6187:Pcdhb7
|
UTSW |
18 |
37,475,622 (GRCm39) |
missense |
probably benign |
0.23 |
R6194:Pcdhb7
|
UTSW |
18 |
37,475,199 (GRCm39) |
missense |
probably damaging |
0.98 |
R6195:Pcdhb7
|
UTSW |
18 |
37,475,709 (GRCm39) |
missense |
probably benign |
0.33 |
R6373:Pcdhb7
|
UTSW |
18 |
37,475,264 (GRCm39) |
nonsense |
probably null |
|
R6398:Pcdhb7
|
UTSW |
18 |
37,476,487 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6437:Pcdhb7
|
UTSW |
18 |
37,475,743 (GRCm39) |
missense |
probably damaging |
0.96 |
R6587:Pcdhb7
|
UTSW |
18 |
37,477,156 (GRCm39) |
missense |
probably benign |
|
R6596:Pcdhb7
|
UTSW |
18 |
37,476,414 (GRCm39) |
missense |
probably damaging |
0.97 |
R6646:Pcdhb7
|
UTSW |
18 |
37,477,027 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6702:Pcdhb7
|
UTSW |
18 |
37,474,959 (GRCm39) |
missense |
probably benign |
0.03 |
R6923:Pcdhb7
|
UTSW |
18 |
37,475,522 (GRCm39) |
splice site |
probably null |
|
R6976:Pcdhb7
|
UTSW |
18 |
37,476,631 (GRCm39) |
missense |
probably benign |
0.12 |
R7038:Pcdhb7
|
UTSW |
18 |
37,475,257 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7325:Pcdhb7
|
UTSW |
18 |
37,476,440 (GRCm39) |
missense |
probably benign |
0.00 |
R7509:Pcdhb7
|
UTSW |
18 |
37,475,074 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7598:Pcdhb7
|
UTSW |
18 |
37,475,833 (GRCm39) |
missense |
probably damaging |
1.00 |
R7622:Pcdhb7
|
UTSW |
18 |
37,475,514 (GRCm39) |
missense |
probably benign |
0.06 |
R7828:Pcdhb7
|
UTSW |
18 |
37,476,915 (GRCm39) |
missense |
probably damaging |
1.00 |
R9598:Pcdhb7
|
UTSW |
18 |
37,475,434 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Pcdhb7
|
UTSW |
18 |
37,476,261 (GRCm39) |
missense |
probably benign |
0.12 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGCTGCATTTCCAGGTGACTC -3'
(R):5'- CATAGGGGCTGTTCACAAACTCAGG -3'
Sequencing Primer
(F):5'- TCCAGGTGACTCTTGAAAAGC -3'
(R):5'- TGTCCATGATCAGGATTCGAACC -3'
|
Posted On |
2013-07-11 |