Incidental Mutation 'R0140:Pcdhb9'
| ID |
22284 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb9
|
| Ensembl Gene |
ENSMUSG00000051242 |
| Gene Name |
protocadherin beta 9 |
| Synonyms |
Pcdhb4C, PcdhbI |
| MMRRC Submission |
038425-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R0140 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
18 |
| Chromosomal Location |
37533908-37536962 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37536014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 669
(D669E)
|
| 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: D669E
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000058801
Gene: ENSMUSG00000051242
AA Change: D669E
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
98% (79/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
| 9330161L09Rik |
T |
C |
12: 103,373,587 (GRCm39) |
|
probably benign |
Het |
| Abca2 |
T |
G |
2: 25,328,097 (GRCm39) |
|
probably null |
Het |
| Adgrf3 |
T |
C |
5: 30,401,379 (GRCm39) |
K13R |
probably benign |
Het |
| Arhgap15 |
C |
A |
2: 44,212,779 (GRCm39) |
F416L |
probably damaging |
Het |
| Arhgef26 |
C |
G |
3: 62,355,666 (GRCm39) |
T746R |
probably benign |
Het |
| Aspm |
C |
T |
1: 139,408,379 (GRCm39) |
T2422I |
probably benign |
Het |
| Atp4a |
C |
G |
7: 30,419,526 (GRCm39) |
R659G |
probably benign |
Het |
| AY358078 |
T |
A |
14: 52,063,399 (GRCm39) |
D348E |
probably benign |
Het |
| Blnk |
A |
T |
19: 40,928,668 (GRCm39) |
S285T |
probably damaging |
Het |
| Calr3 |
C |
T |
8: 73,188,732 (GRCm39) |
|
probably benign |
Het |
| Camsap2 |
A |
T |
1: 136,208,120 (GRCm39) |
V1124D |
probably benign |
Het |
| Ccdc40 |
G |
A |
11: 119,155,125 (GRCm39) |
G1122S |
probably benign |
Het |
| Ccdc69 |
C |
A |
11: 54,941,325 (GRCm39) |
C196F |
possibly damaging |
Het |
| Cdhr3 |
T |
G |
12: 33,130,412 (GRCm39) |
N141T |
probably benign |
Het |
| Cdk4 |
T |
C |
10: 126,900,214 (GRCm39) |
V37A |
probably damaging |
Het |
| Celsr2 |
C |
T |
3: 108,305,249 (GRCm39) |
R2110K |
probably benign |
Het |
| Clcn7 |
A |
G |
17: 25,372,728 (GRCm39) |
Y437C |
probably damaging |
Het |
| Col6a6 |
A |
G |
9: 105,579,474 (GRCm39) |
F1917S |
probably damaging |
Het |
| Cps1 |
T |
G |
1: 67,219,275 (GRCm39) |
S872A |
probably benign |
Het |
| Crebbp |
G |
T |
16: 3,935,363 (GRCm39) |
T842N |
probably damaging |
Het |
| Dennd2d |
G |
A |
3: 106,399,799 (GRCm39) |
V234I |
probably benign |
Het |
| Fam227b |
T |
C |
2: 125,966,523 (GRCm39) |
M130V |
possibly damaging |
Het |
| Fbxw24 |
G |
T |
9: 109,434,482 (GRCm39) |
L373I |
possibly damaging |
Het |
| Fubp3 |
T |
C |
2: 31,498,196 (GRCm39) |
Y359H |
probably damaging |
Het |
| Gm19684 |
T |
C |
17: 36,438,319 (GRCm39) |
|
probably benign |
Het |
| Hrnr |
C |
T |
3: 93,238,800 (GRCm39) |
Q3013* |
probably null |
Het |
| Il12rb1 |
T |
C |
8: 71,272,415 (GRCm39) |
|
probably benign |
Het |
| Lepr |
A |
T |
4: 101,625,264 (GRCm39) |
D473V |
probably damaging |
Het |
| Myof |
A |
T |
19: 37,940,004 (GRCm39) |
Y820* |
probably null |
Het |
| Nfil3 |
G |
A |
13: 53,121,681 (GRCm39) |
Q408* |
probably null |
Het |
| Nolc1 |
G |
A |
19: 46,069,817 (GRCm39) |
|
probably benign |
Het |
| Npbwr1 |
A |
C |
1: 5,986,840 (GRCm39) |
Y225D |
probably damaging |
Het |
| Nrip3 |
T |
C |
7: 109,361,022 (GRCm39) |
|
probably benign |
Het |
| Ntrk1 |
A |
C |
3: 87,685,875 (GRCm39) |
L749R |
probably damaging |
Het |
| Or10ag53 |
A |
G |
2: 87,082,969 (GRCm39) |
I229M |
probably damaging |
Het |
| Or2b11 |
A |
G |
11: 59,461,804 (GRCm39) |
L254P |
probably damaging |
Het |
| Or4c126 |
T |
A |
2: 89,824,463 (GRCm39) |
V242D |
probably damaging |
Het |
| Or52a24 |
A |
G |
7: 103,381,349 (GRCm39) |
D72G |
probably damaging |
Het |
| Or6c211 |
G |
T |
10: 129,505,557 (GRCm39) |
T277N |
probably damaging |
Het |
| Paox |
A |
T |
7: 139,713,971 (GRCm39) |
T244S |
probably damaging |
Het |
| Pggt1b |
A |
G |
18: 46,391,150 (GRCm39) |
|
probably null |
Het |
| Phkg1 |
T |
A |
5: 129,893,449 (GRCm39) |
I334F |
probably benign |
Het |
| Phtf1 |
A |
T |
3: 103,894,876 (GRCm39) |
R208W |
probably null |
Het |
| Pnliprp2 |
A |
T |
19: 58,754,795 (GRCm39) |
I280F |
probably benign |
Het |
| Pnma8a |
A |
G |
7: 16,694,147 (GRCm39) |
M1V |
probably null |
Het |
| Prcp |
A |
G |
7: 92,577,819 (GRCm39) |
T328A |
probably damaging |
Het |
| Pxdn |
A |
G |
12: 30,032,753 (GRCm39) |
E179G |
probably benign |
Het |
| Racgap1 |
A |
T |
15: 99,521,532 (GRCm39) |
N541K |
probably benign |
Het |
| Rnf103 |
T |
A |
6: 71,486,315 (GRCm39) |
F315L |
possibly damaging |
Het |
| Septin2 |
A |
G |
1: 93,429,361 (GRCm39) |
R237G |
probably damaging |
Het |
| Setd6 |
T |
A |
8: 96,442,737 (GRCm39) |
L58Q |
probably damaging |
Het |
| Sipa1l1 |
G |
A |
12: 82,442,974 (GRCm39) |
V755I |
probably damaging |
Het |
| Slc16a12 |
G |
T |
19: 34,650,104 (GRCm39) |
|
probably benign |
Het |
| Slk |
G |
A |
19: 47,610,774 (GRCm39) |
D815N |
probably damaging |
Het |
| Stx1a |
T |
C |
5: 135,074,439 (GRCm39) |
|
probably benign |
Het |
| Tbc1d15 |
T |
A |
10: 115,056,124 (GRCm39) |
I283F |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,545,259 (GRCm39) |
I2425T |
possibly damaging |
Het |
| Tle1 |
G |
A |
4: 72,038,422 (GRCm39) |
H702Y |
probably damaging |
Het |
| Tmc6 |
A |
G |
11: 117,657,077 (GRCm39) |
|
probably benign |
Het |
| Tmem268 |
G |
A |
4: 63,496,096 (GRCm39) |
R179H |
possibly damaging |
Het |
| Tmem9 |
A |
G |
1: 135,961,900 (GRCm39) |
K165R |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,796,558 (GRCm39) |
|
probably null |
Het |
| Tufm |
C |
T |
7: 126,089,003 (GRCm39) |
P88S |
probably damaging |
Het |
| Ubqln1 |
A |
G |
13: 58,341,103 (GRCm39) |
I216T |
probably damaging |
Het |
| Urad |
T |
G |
5: 147,259,141 (GRCm39) |
M1L |
probably benign |
Het |
| Utp6 |
A |
G |
11: 79,847,551 (GRCm39) |
|
probably benign |
Het |
| Vav2 |
C |
T |
2: 27,163,688 (GRCm39) |
|
probably benign |
Het |
| Vmn2r55 |
G |
T |
7: 12,402,104 (GRCm39) |
Q395K |
possibly damaging |
Het |
| Wwox |
T |
G |
8: 115,433,027 (GRCm39) |
V231G |
probably damaging |
Het |
| Zfp646 |
T |
A |
7: 127,482,678 (GRCm39) |
N1618K |
probably benign |
Het |
| Zzef1 |
G |
A |
11: 72,790,377 (GRCm39) |
M2110I |
possibly damaging |
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 |
|
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 |
|
R6147:Pcdhb9
|
UTSW |
18 |
37,535,494 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
PCR Primer
(F):5'- GATGACAATGACAATGCGCCCTTC -3'
(R):5'- CCAGGTACAATGTAAGCACGTCCTC -3'
Sequencing Primer
(F):5'- GTGCTCTACCCTATGCAGAAC -3'
(R):5'- GTCCTCATCTTCATGGGCGG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation