Incidental Mutation 'R8141:Pcdhb9'
| ID |
632560 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb9
|
| Ensembl Gene |
ENSMUSG00000051242 |
| Gene Name |
protocadherin beta 9 |
| Synonyms |
Pcdhb4C, PcdhbI |
| MMRRC Submission |
067569-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R8141 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37533908-37536962 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37535361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 452
(Y452N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058801
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057228]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
E9Q5G2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057228
AA Change: Y452N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058801
Gene: ENSMUSG00000051242
AA Change: Y452N
| 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 |
0.7180 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 90.7%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
T |
C |
9: 57,165,688 (GRCm39) |
T229A |
probably benign |
Het |
| 4930438A08Rik |
A |
G |
11: 58,177,411 (GRCm39) |
E40G |
|
Het |
| Actn2 |
T |
C |
13: 12,303,516 (GRCm39) |
D428G |
probably damaging |
Het |
| Arl14epl |
C |
A |
18: 47,059,410 (GRCm39) |
N8K |
probably benign |
Het |
| Bend7 |
T |
C |
2: 4,757,636 (GRCm39) |
V226A |
probably benign |
Het |
| C1s1 |
A |
T |
6: 124,508,321 (GRCm39) |
L556Q |
probably damaging |
Het |
| Casr |
T |
C |
16: 36,315,173 (GRCm39) |
K966E |
probably damaging |
Het |
| Ccm2l |
T |
C |
2: 152,912,791 (GRCm39) |
L110P |
probably damaging |
Het |
| Cdhr4 |
G |
A |
9: 107,873,991 (GRCm39) |
R59H |
|
Het |
| Celf3 |
C |
A |
3: 94,395,850 (GRCm39) |
N410K |
probably damaging |
Het |
| Cfap251 |
T |
G |
5: 123,424,493 (GRCm39) |
V726G |
possibly damaging |
Het |
| Cpne6 |
T |
C |
14: 55,750,066 (GRCm39) |
C66R |
possibly damaging |
Het |
| Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
| Eln |
CTCCAGCTCCGAT |
C |
5: 134,758,003 (GRCm39) |
|
probably benign |
Het |
| Fam53b |
A |
C |
7: 132,361,758 (GRCm39) |
V90G |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,908,362 (GRCm39) |
I2547F |
possibly damaging |
Het |
| Foxk1 |
A |
G |
5: 142,439,716 (GRCm39) |
Y524C |
probably damaging |
Het |
| Gpr87 |
A |
G |
3: 59,087,020 (GRCm39) |
S162P |
probably damaging |
Het |
| Ifi204 |
A |
G |
1: 173,583,189 (GRCm39) |
V343A |
possibly damaging |
Het |
| Igsf10 |
A |
G |
3: 59,237,949 (GRCm39) |
L744P |
probably damaging |
Het |
| Iqub |
T |
A |
6: 24,491,608 (GRCm39) |
K359N |
probably benign |
Het |
| Kdm3b |
A |
T |
18: 34,961,599 (GRCm39) |
K1459* |
probably null |
Het |
| Kirrel1 |
C |
T |
3: 86,993,735 (GRCm39) |
W507* |
probably null |
Het |
| Klra17 |
T |
C |
6: 129,849,292 (GRCm39) |
D94G |
probably damaging |
Het |
| Llgl1 |
G |
C |
11: 60,601,142 (GRCm39) |
E693D |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,511,855 (GRCm39) |
T38A |
unknown |
Het |
| Lypd4 |
A |
T |
7: 24,564,254 (GRCm39) |
D201E |
possibly damaging |
Het |
| Nin |
A |
G |
12: 70,076,795 (GRCm39) |
S1794P |
|
Het |
| Oog2 |
T |
C |
4: 143,920,777 (GRCm39) |
L70P |
probably damaging |
Het |
| Or6n2 |
T |
C |
1: 173,897,488 (GRCm39) |
L208P |
probably damaging |
Het |
| Pacsin1 |
G |
T |
17: 27,926,034 (GRCm39) |
R282S |
possibly damaging |
Het |
| Pdgfra |
T |
C |
5: 75,338,387 (GRCm39) |
V547A |
possibly damaging |
Het |
| Plcb4 |
T |
C |
2: 135,781,169 (GRCm39) |
F209L |
probably damaging |
Het |
| Pnpla6 |
T |
C |
8: 3,571,384 (GRCm39) |
S158P |
probably benign |
Het |
| Prlhr |
C |
G |
19: 60,455,747 (GRCm39) |
R273P |
probably damaging |
Het |
| Prss41 |
G |
A |
17: 24,056,607 (GRCm39) |
P196L |
probably damaging |
Het |
| Ptgr3 |
T |
C |
18: 84,112,651 (GRCm39) |
L109P |
probably benign |
Het |
| Ptpn22 |
A |
G |
3: 103,793,643 (GRCm39) |
E598G |
possibly damaging |
Het |
| Rasal2 |
T |
C |
1: 156,992,240 (GRCm39) |
D569G |
possibly damaging |
Het |
| Sf3b3 |
A |
C |
8: 111,547,483 (GRCm39) |
M715R |
possibly damaging |
Het |
| Ska1 |
T |
C |
18: 74,339,907 (GRCm39) |
N13S |
probably benign |
Het |
| Spocd1 |
A |
C |
4: 129,823,497 (GRCm39) |
E98A |
|
Het |
| Sycp1 |
G |
T |
3: 102,842,885 (GRCm39) |
A28E |
possibly damaging |
Het |
| Syf2 |
C |
T |
4: 134,664,182 (GRCm39) |
R199C |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,108,442 (GRCm39) |
D942G |
possibly damaging |
Het |
| Tamalin |
T |
A |
15: 101,129,790 (GRCm39) |
C358S |
possibly damaging |
Het |
| Tmem63a |
A |
G |
1: 180,801,776 (GRCm39) |
T764A |
probably benign |
Het |
| Ttf1 |
C |
T |
2: 28,957,238 (GRCm39) |
Q503* |
probably null |
Het |
| Usp13 |
T |
C |
3: 32,949,025 (GRCm39) |
V454A |
possibly damaging |
Het |
| Usp47 |
A |
G |
7: 111,652,472 (GRCm39) |
T50A |
possibly damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,315,331 (GRCm39) |
C1382S |
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 |
|
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 |
|
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 |
|
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'- AGCTGACCATATCTTCACTGACC -3'
(R):5'- AGTCTGAGTCTGTGGCACTG -3'
Sequencing Primer
(F):5'- TCTGTCCCAGAAAATGCTCCTGAG -3'
(R):5'- CACTGATGGTGCCTATGTGCAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation