Incidental Mutation 'R6147:Pcdhb9'
ID |
488980 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhb9
|
Ensembl Gene |
ENSMUSG00000051242 |
Gene Name |
protocadherin beta 9 |
Synonyms |
Pcdhb4C, PcdhbI |
MMRRC Submission |
044294-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.104)
|
Stock # |
R6147 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37533908-37536962 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 37535494 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 496
(R496L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058801
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057228]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
AlphaFold |
E9Q5G2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057228
AA Change: R496L
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000058801 Gene: ENSMUSG00000051242 AA Change: R496L
Domain | Start | End | E-Value | Type |
Pfam:Cadherin_2
|
65 |
147 |
2.3e-33 |
PFAM |
CA
|
190 |
275 |
1.28e-17 |
SMART |
CA
|
299 |
380 |
7.6e-25 |
SMART |
CA
|
403 |
484 |
5.81e-21 |
SMART |
CA
|
508 |
594 |
9.8e-28 |
SMART |
CA
|
624 |
705 |
1.86e-10 |
SMART |
Pfam:Cadherin_C_2
|
722 |
805 |
2.3e-27 |
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 |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 97.1%
- 20x: 92.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acmsd |
C |
T |
1: 127,657,157 (GRCm39) |
|
probably benign |
Het |
Acsf3 |
T |
A |
8: 123,508,213 (GRCm39) |
D236E |
probably damaging |
Het |
Aqp1 |
G |
T |
6: 55,313,595 (GRCm39) |
E40D |
probably benign |
Het |
Arfgef2 |
A |
G |
2: 166,713,415 (GRCm39) |
D1272G |
probably damaging |
Het |
Arfip1 |
A |
G |
3: 84,436,485 (GRCm39) |
V97A |
probably benign |
Het |
Atp6v1b2 |
T |
A |
8: 69,555,134 (GRCm39) |
Y165* |
probably null |
Het |
Bclaf1 |
T |
A |
10: 20,199,171 (GRCm39) |
D189E |
possibly damaging |
Het |
Camsap2 |
G |
A |
1: 136,273,138 (GRCm39) |
T13M |
probably damaging |
Het |
Cblif |
G |
A |
19: 11,724,936 (GRCm39) |
|
probably benign |
Het |
Cntn5 |
T |
A |
9: 10,012,894 (GRCm39) |
Y297F |
probably damaging |
Het |
Cntnap5b |
G |
A |
1: 99,978,506 (GRCm39) |
C174Y |
probably damaging |
Het |
Cntrl |
A |
C |
2: 35,055,745 (GRCm39) |
D1213A |
possibly damaging |
Het |
Comtd1 |
C |
A |
14: 21,898,883 (GRCm39) |
A20S |
probably damaging |
Het |
Cspg4 |
A |
T |
9: 56,796,056 (GRCm39) |
R1264W |
probably damaging |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Dlgap2 |
T |
A |
8: 14,777,294 (GRCm39) |
C180S |
probably benign |
Het |
Ednra |
C |
T |
8: 78,393,951 (GRCm39) |
|
probably benign |
Het |
Efcab3 |
T |
C |
11: 104,858,566 (GRCm39) |
V3875A |
unknown |
Het |
Ephb6 |
A |
T |
6: 41,593,715 (GRCm39) |
S533C |
probably damaging |
Het |
Fndc1 |
A |
T |
17: 7,972,594 (GRCm39) |
|
probably null |
Het |
Gm12185 |
A |
G |
11: 48,806,717 (GRCm39) |
I158T |
probably benign |
Het |
Gm14325 |
A |
T |
2: 177,474,600 (GRCm39) |
C161S |
probably damaging |
Het |
Ighv9-1 |
T |
A |
12: 114,057,840 (GRCm39) |
Q20L |
probably damaging |
Het |
Khnyn |
G |
C |
14: 56,125,060 (GRCm39) |
S438T |
probably damaging |
Het |
Krt9 |
T |
C |
11: 100,079,665 (GRCm39) |
S576G |
unknown |
Het |
Lrriq4 |
A |
T |
3: 30,713,228 (GRCm39) |
N443I |
probably damaging |
Het |
Luzp1 |
A |
G |
4: 136,268,374 (GRCm39) |
Y199C |
probably damaging |
Het |
Map2k3 |
T |
A |
11: 60,840,776 (GRCm39) |
Y268* |
probably null |
Het |
Men1 |
T |
A |
19: 6,387,272 (GRCm39) |
D248E |
probably damaging |
Het |
Mfsd4b2 |
A |
T |
10: 39,797,573 (GRCm39) |
C261S |
probably benign |
Het |
Mpeg1 |
T |
G |
19: 12,440,258 (GRCm39) |
I572S |
probably damaging |
Het |
Mrgprb2 |
A |
G |
7: 48,202,113 (GRCm39) |
V204A |
possibly damaging |
Het |
Mycbp2 |
A |
T |
14: 103,392,945 (GRCm39) |
C805* |
probably null |
Het |
Nphs2 |
A |
T |
1: 156,146,296 (GRCm39) |
K91* |
probably null |
Het |
Obox3 |
A |
G |
7: 15,359,926 (GRCm39) |
S248P |
probably damaging |
Het |
Or12d17 |
T |
C |
17: 37,777,430 (GRCm39) |
I111T |
probably benign |
Het |
Or5w19 |
C |
T |
2: 87,699,061 (GRCm39) |
T242I |
probably benign |
Het |
Or8k22 |
A |
T |
2: 86,162,844 (GRCm39) |
N285K |
probably damaging |
Het |
Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
Pan3 |
T |
C |
5: 147,485,093 (GRCm39) |
|
probably benign |
Het |
Pate10 |
A |
G |
9: 35,653,528 (GRCm39) |
T111A |
possibly damaging |
Het |
Pate10 |
A |
T |
9: 35,653,406 (GRCm39) |
Y70F |
possibly damaging |
Het |
Pcdhb5 |
T |
A |
18: 37,453,779 (GRCm39) |
L53Q |
probably damaging |
Het |
Peg10 |
C |
T |
6: 4,754,499 (GRCm39) |
|
probably benign |
Het |
Plce1 |
A |
G |
19: 38,690,481 (GRCm39) |
K722E |
probably damaging |
Het |
Plch1 |
A |
G |
3: 63,630,302 (GRCm39) |
S489P |
probably damaging |
Het |
Plekhg3 |
T |
C |
12: 76,611,985 (GRCm39) |
V362A |
probably damaging |
Het |
Prorp |
A |
G |
12: 55,426,093 (GRCm39) |
Y168C |
probably damaging |
Het |
Radil |
G |
A |
5: 142,483,695 (GRCm39) |
H264Y |
probably benign |
Het |
Ranbp2 |
C |
A |
10: 58,315,250 (GRCm39) |
T1990K |
probably damaging |
Het |
Rnf207 |
T |
C |
4: 152,400,112 (GRCm39) |
D192G |
probably damaging |
Het |
Ryr1 |
A |
T |
7: 28,785,339 (GRCm39) |
F1784Y |
possibly damaging |
Het |
Set |
T |
A |
2: 29,956,836 (GRCm39) |
S2T |
probably benign |
Het |
Slc26a2 |
T |
A |
18: 61,334,757 (GRCm39) |
Y232F |
probably damaging |
Het |
Sntb1 |
T |
A |
15: 55,511,406 (GRCm39) |
M393L |
probably benign |
Het |
Stx16 |
A |
G |
2: 173,932,480 (GRCm39) |
T18A |
probably damaging |
Het |
Stxbp5 |
A |
T |
10: 9,684,216 (GRCm39) |
S585T |
possibly damaging |
Het |
Sult2a7 |
T |
C |
7: 14,199,088 (GRCm39) |
E313G |
probably damaging |
Het |
Tbck |
A |
G |
3: 132,400,207 (GRCm39) |
K86R |
probably benign |
Het |
Tom1 |
A |
T |
8: 75,781,320 (GRCm39) |
Q255L |
possibly damaging |
Het |
Trbv4 |
A |
G |
6: 41,036,637 (GRCm39) |
Y54C |
probably damaging |
Het |
Trim34a |
A |
T |
7: 103,910,398 (GRCm39) |
Q400L |
probably damaging |
Het |
Trim42 |
G |
T |
9: 97,245,382 (GRCm39) |
H473N |
probably benign |
Het |
Tsbp1 |
T |
C |
17: 34,637,897 (GRCm39) |
S31P |
possibly damaging |
Het |
Tshr |
T |
A |
12: 91,505,009 (GRCm39) |
M649K |
possibly damaging |
Het |
Vmn2r11 |
C |
T |
5: 109,202,700 (GRCm39) |
V126M |
probably benign |
Het |
Vps13b |
T |
A |
15: 35,930,177 (GRCm39) |
H3971Q |
probably benign |
Het |
Wdr75 |
T |
A |
1: 45,858,698 (GRCm39) |
N622K |
probably benign |
Het |
Wdr93 |
A |
T |
7: 79,408,245 (GRCm39) |
Q242L |
probably benign |
Het |
|
Other mutations in Pcdhb9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00157:Pcdhb9
|
APN |
18 |
37,536,332 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL01557:Pcdhb9
|
APN |
18 |
37,536,100 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01716:Pcdhb9
|
APN |
18 |
37,536,228 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01954:Pcdhb9
|
APN |
18 |
37,534,794 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02063:Pcdhb9
|
APN |
18 |
37,534,810 (GRCm39) |
missense |
probably benign |
0.21 |
IGL03057:Pcdhb9
|
APN |
18 |
37,534,330 (GRCm39) |
missense |
probably benign |
0.00 |
R0140:Pcdhb9
|
UTSW |
18 |
37,536,014 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0180:Pcdhb9
|
UTSW |
18 |
37,535,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R0349:Pcdhb9
|
UTSW |
18 |
37,535,632 (GRCm39) |
missense |
probably damaging |
0.99 |
R0616:Pcdhb9
|
UTSW |
18 |
37,535,028 (GRCm39) |
nonsense |
probably null |
|
R0669:Pcdhb9
|
UTSW |
18 |
37,535,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R1256:Pcdhb9
|
UTSW |
18 |
37,536,169 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1642:Pcdhb9
|
UTSW |
18 |
37,533,987 (GRCm39) |
intron |
probably benign |
|
R1678:Pcdhb9
|
UTSW |
18 |
37,534,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R1711:Pcdhb9
|
UTSW |
18 |
37,536,380 (GRCm39) |
nonsense |
probably null |
|
R1762:Pcdhb9
|
UTSW |
18 |
37,536,136 (GRCm39) |
missense |
probably benign |
0.00 |
R1823:Pcdhb9
|
UTSW |
18 |
37,535,871 (GRCm39) |
missense |
probably benign |
0.14 |
R1868:Pcdhb9
|
UTSW |
18 |
37,535,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R1959:Pcdhb9
|
UTSW |
18 |
37,536,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R2446:Pcdhb9
|
UTSW |
18 |
37,536,340 (GRCm39) |
missense |
probably damaging |
0.99 |
R2889:Pcdhb9
|
UTSW |
18 |
37,536,276 (GRCm39) |
missense |
probably benign |
0.06 |
R2890:Pcdhb9
|
UTSW |
18 |
37,536,379 (GRCm39) |
missense |
probably benign |
0.23 |
R3196:Pcdhb9
|
UTSW |
18 |
37,534,663 (GRCm39) |
missense |
probably benign |
0.02 |
R3725:Pcdhb9
|
UTSW |
18 |
37,534,654 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3726:Pcdhb9
|
UTSW |
18 |
37,534,654 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4179:Pcdhb9
|
UTSW |
18 |
37,534,168 (GRCm39) |
missense |
probably benign |
0.17 |
R4326:Pcdhb9
|
UTSW |
18 |
37,534,876 (GRCm39) |
missense |
probably benign |
0.15 |
R4326:Pcdhb9
|
UTSW |
18 |
37,534,875 (GRCm39) |
missense |
probably benign |
0.04 |
R4327:Pcdhb9
|
UTSW |
18 |
37,534,876 (GRCm39) |
missense |
probably benign |
0.15 |
R4327:Pcdhb9
|
UTSW |
18 |
37,534,875 (GRCm39) |
missense |
probably benign |
0.04 |
R4329:Pcdhb9
|
UTSW |
18 |
37,534,876 (GRCm39) |
missense |
probably benign |
0.15 |
R4329:Pcdhb9
|
UTSW |
18 |
37,534,875 (GRCm39) |
missense |
probably benign |
0.04 |
R4626:Pcdhb9
|
UTSW |
18 |
37,535,302 (GRCm39) |
missense |
probably benign |
0.01 |
R4738:Pcdhb9
|
UTSW |
18 |
37,536,468 (GRCm39) |
missense |
probably benign |
0.33 |
R4888:Pcdhb9
|
UTSW |
18 |
37,536,286 (GRCm39) |
missense |
probably benign |
0.22 |
R5140:Pcdhb9
|
UTSW |
18 |
37,534,186 (GRCm39) |
missense |
probably benign |
0.00 |
R5186:Pcdhb9
|
UTSW |
18 |
37,534,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R5502:Pcdhb9
|
UTSW |
18 |
37,534,656 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5586:Pcdhb9
|
UTSW |
18 |
37,534,167 (GRCm39) |
missense |
probably benign |
|
R5601:Pcdhb9
|
UTSW |
18 |
37,535,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R5624:Pcdhb9
|
UTSW |
18 |
37,534,459 (GRCm39) |
missense |
probably benign |
|
R5827:Pcdhb9
|
UTSW |
18 |
37,535,011 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5829:Pcdhb9
|
UTSW |
18 |
37,534,942 (GRCm39) |
missense |
probably damaging |
0.97 |
R5837:Pcdhb9
|
UTSW |
18 |
37,535,851 (GRCm39) |
missense |
probably damaging |
1.00 |
R6228:Pcdhb9
|
UTSW |
18 |
37,535,115 (GRCm39) |
missense |
probably benign |
0.00 |
R6245:Pcdhb9
|
UTSW |
18 |
37,536,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R6304:Pcdhb9
|
UTSW |
18 |
37,534,420 (GRCm39) |
missense |
probably damaging |
0.99 |
R6542:Pcdhb9
|
UTSW |
18 |
37,534,642 (GRCm39) |
missense |
probably damaging |
0.99 |
R6904:Pcdhb9
|
UTSW |
18 |
37,534,970 (GRCm39) |
missense |
probably benign |
0.01 |
R7058:Pcdhb9
|
UTSW |
18 |
37,536,334 (GRCm39) |
missense |
probably benign |
0.35 |
R7159:Pcdhb9
|
UTSW |
18 |
37,534,545 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7258:Pcdhb9
|
UTSW |
18 |
37,535,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R7800:Pcdhb9
|
UTSW |
18 |
37,534,602 (GRCm39) |
missense |
probably benign |
0.01 |
R8027:Pcdhb9
|
UTSW |
18 |
37,536,069 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8141:Pcdhb9
|
UTSW |
18 |
37,535,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R8157:Pcdhb9
|
UTSW |
18 |
37,536,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R8729:Pcdhb9
|
UTSW |
18 |
37,535,639 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8748:Pcdhb9
|
UTSW |
18 |
37,535,901 (GRCm39) |
missense |
probably damaging |
1.00 |
R8833:Pcdhb9
|
UTSW |
18 |
37,534,468 (GRCm39) |
missense |
probably benign |
|
R9083:Pcdhb9
|
UTSW |
18 |
37,535,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R9562:Pcdhb9
|
UTSW |
18 |
37,534,665 (GRCm39) |
missense |
probably benign |
|
R9779:Pcdhb9
|
UTSW |
18 |
37,535,253 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
|
Posted On |
2017-10-10 |