Incidental Mutation 'R1216:Pcdhb7'
ID |
99695 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhb7
|
Ensembl Gene |
ENSMUSG00000045062 |
Gene Name |
protocadherin beta 7 |
Synonyms |
PcdhbG, Pcdhb4B |
MMRRC Submission |
039285-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R1216 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37474755-37478255 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 37476927 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 688
(T688S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051041
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053037]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
AlphaFold |
Q8CDY9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053037
AA Change: T688S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000051041 Gene: ENSMUSG00000045062 AA Change: T688S
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: 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 |
0.3797 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.3%
|
Validation Efficiency |
98% (45/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
A |
T |
1: 11,868,716 (GRCm39) |
D332V |
probably damaging |
Het |
Akr1c12 |
T |
C |
13: 4,326,322 (GRCm39) |
Y53C |
probably benign |
Het |
Arhgap23 |
T |
C |
11: 97,383,498 (GRCm39) |
|
probably benign |
Het |
AU040320 |
T |
C |
4: 126,710,276 (GRCm39) |
|
probably benign |
Het |
B4galnt2 |
A |
G |
11: 95,782,767 (GRCm39) |
L15P |
probably benign |
Het |
Cadps2 |
A |
G |
6: 23,583,472 (GRCm39) |
|
probably benign |
Het |
Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
Dppa4 |
T |
C |
16: 48,113,343 (GRCm39) |
F244S |
possibly damaging |
Het |
Exoc1 |
A |
G |
5: 76,702,035 (GRCm39) |
K445R |
probably benign |
Het |
Fam47e |
A |
G |
5: 92,710,343 (GRCm39) |
E114G |
probably damaging |
Het |
Fgf12 |
A |
T |
16: 27,981,202 (GRCm39) |
N171K |
possibly damaging |
Het |
Fyb2 |
G |
A |
4: 104,852,903 (GRCm39) |
V528M |
possibly damaging |
Het |
Ghr |
A |
G |
15: 3,349,337 (GRCm39) |
S614P |
probably damaging |
Het |
Gm10985 |
A |
C |
3: 53,752,674 (GRCm39) |
Y19S |
probably damaging |
Het |
Gpr152 |
T |
A |
19: 4,193,554 (GRCm39) |
V365D |
possibly damaging |
Het |
Guca1a |
A |
G |
17: 47,706,637 (GRCm39) |
|
probably benign |
Het |
Hivep1 |
G |
A |
13: 42,310,997 (GRCm39) |
G1079D |
probably benign |
Het |
Hnrnpm |
T |
C |
17: 33,868,687 (GRCm39) |
D580G |
probably damaging |
Het |
Ints6 |
A |
T |
14: 62,945,147 (GRCm39) |
D394E |
probably damaging |
Het |
Kat6b |
T |
A |
14: 21,672,108 (GRCm39) |
Y339* |
probably null |
Het |
Kcnj11 |
C |
A |
7: 45,749,285 (GRCm39) |
V13L |
probably benign |
Het |
Lama3 |
C |
T |
18: 12,554,191 (GRCm39) |
|
probably benign |
Het |
Mtrex |
A |
G |
13: 113,050,876 (GRCm39) |
|
probably benign |
Het |
Myo18a |
A |
G |
11: 77,709,473 (GRCm39) |
T161A |
probably benign |
Het |
Ncapg |
G |
T |
5: 45,857,261 (GRCm39) |
S991I |
possibly damaging |
Het |
Nrde2 |
G |
A |
12: 100,116,069 (GRCm39) |
|
probably benign |
Het |
Or4c127 |
T |
A |
2: 89,832,822 (GRCm39) |
I24N |
probably benign |
Het |
Or5d18 |
T |
C |
2: 87,864,602 (GRCm39) |
R294G |
probably damaging |
Het |
Pla2g6 |
T |
C |
15: 79,190,635 (GRCm39) |
D309G |
probably benign |
Het |
Plod1 |
A |
T |
4: 148,005,584 (GRCm39) |
V404D |
probably damaging |
Het |
Ppp2r2a |
G |
T |
14: 67,266,447 (GRCm39) |
Y71* |
probably null |
Het |
Prcp |
A |
G |
7: 92,566,954 (GRCm39) |
N222S |
probably benign |
Het |
Rad21 |
T |
C |
15: 51,833,532 (GRCm39) |
T316A |
possibly damaging |
Het |
Ranbp2 |
T |
C |
10: 58,319,034 (GRCm39) |
|
probably benign |
Het |
Rapgef4 |
C |
A |
2: 72,038,492 (GRCm39) |
P548T |
possibly damaging |
Het |
Ric1 |
G |
T |
19: 29,555,135 (GRCm39) |
M416I |
probably benign |
Het |
Slc9a8 |
T |
C |
2: 167,266,041 (GRCm39) |
F6S |
probably benign |
Het |
Smpdl3a |
T |
G |
10: 57,678,575 (GRCm39) |
I126S |
probably null |
Het |
Sphkap |
A |
T |
1: 83,268,698 (GRCm39) |
L98Q |
probably damaging |
Het |
Spink4 |
T |
G |
4: 40,924,974 (GRCm39) |
|
probably benign |
Het |
Taar5 |
A |
T |
10: 23,847,605 (GRCm39) |
L334F |
probably damaging |
Het |
Tecta |
A |
T |
9: 42,289,203 (GRCm39) |
I454K |
probably benign |
Het |
Ttc7 |
C |
T |
17: 87,654,006 (GRCm39) |
T561M |
possibly damaging |
Het |
Vmn2r9 |
G |
T |
5: 108,995,440 (GRCm39) |
H403N |
probably damaging |
Het |
Zdbf2 |
G |
A |
1: 63,342,161 (GRCm39) |
C180Y |
possibly 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 |
R0576:Pcdhb7
|
UTSW |
18 |
37,475,410 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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'- GACAATGACAATGCGCCCTTCG -3'
(R):5'- AAGAGTTCCTCAGGCACAGAGCAG -3'
Sequencing Primer
(F):5'- ACTCTGGTCAAAATGCCTGG -3'
(R):5'- ACCCAGAGAGGGTTCCCTG -3'
|
Posted On |
2014-01-15 |