Incidental Mutation 'R5140:Pcdhb9'
| ID |
396426 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb9
|
| Ensembl Gene |
ENSMUSG00000051242 |
| Gene Name |
protocadherin beta 9 |
| Synonyms |
Pcdhb4C, PcdhbI |
| MMRRC Submission |
042726-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R5140 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37533908-37536962 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 37534186 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 60
(V60G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058801
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057228]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
E9Q5G2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057228
AA Change: V60G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000058801
Gene: ENSMUSG00000051242
AA Change: V60G
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
A |
5: 8,752,154 (GRCm39) |
I405N |
probably damaging |
Het |
| Abhd17b |
T |
C |
19: 21,661,545 (GRCm39) |
L244P |
probably damaging |
Het |
| Aebp2 |
T |
A |
6: 140,579,532 (GRCm39) |
C34* |
probably null |
Het |
| Arhgap33 |
A |
G |
7: 30,227,726 (GRCm39) |
V491A |
probably damaging |
Het |
| Cacul1 |
C |
T |
19: 60,551,619 (GRCm39) |
R201Q |
probably benign |
Het |
| Cald1 |
T |
A |
6: 34,730,515 (GRCm39) |
N77K |
probably damaging |
Het |
| Clcn6 |
A |
C |
4: 148,122,774 (GRCm39) |
|
probably benign |
Het |
| Copb1 |
A |
T |
7: 113,846,035 (GRCm39) |
H178Q |
probably benign |
Het |
| Dnah17 |
C |
T |
11: 117,977,771 (GRCm39) |
V1854I |
probably damaging |
Het |
| Dnajc16 |
T |
G |
4: 141,491,994 (GRCm39) |
T610P |
possibly damaging |
Het |
| Enpp1 |
T |
C |
10: 24,528,750 (GRCm39) |
N624S |
possibly damaging |
Het |
| F2 |
CAGAAAG |
CAG |
2: 91,465,302 (GRCm39) |
|
probably benign |
Het |
| Foxn1 |
T |
C |
11: 78,252,459 (GRCm39) |
T310A |
probably benign |
Het |
| Galnt16 |
T |
A |
12: 80,628,073 (GRCm39) |
D256E |
possibly damaging |
Het |
| Gbp11 |
T |
C |
5: 105,478,919 (GRCm39) |
D173G |
probably damaging |
Het |
| Glmn |
A |
G |
5: 107,718,066 (GRCm39) |
S284P |
probably damaging |
Het |
| Gm3985 |
A |
G |
8: 33,380,693 (GRCm39) |
|
noncoding transcript |
Het |
| Hs3st6 |
A |
T |
17: 24,977,521 (GRCm39) |
M334L |
probably benign |
Het |
| Idua |
T |
A |
5: 108,828,180 (GRCm39) |
D155E |
probably damaging |
Het |
| Kdm6b |
T |
C |
11: 69,290,881 (GRCm39) |
|
probably benign |
Het |
| Kiss1r |
T |
C |
10: 79,757,461 (GRCm39) |
F272L |
probably damaging |
Het |
| Krt35 |
T |
C |
11: 99,985,343 (GRCm39) |
K233E |
probably damaging |
Het |
| Krt36 |
C |
T |
11: 99,994,328 (GRCm39) |
V250M |
probably damaging |
Het |
| Lhpp |
T |
C |
7: 132,307,361 (GRCm39) |
Y253H |
probably damaging |
Het |
| Npas3 |
T |
A |
12: 53,547,897 (GRCm39) |
L51* |
probably null |
Het |
| Or10ac1 |
T |
C |
6: 42,515,449 (GRCm39) |
H169R |
probably benign |
Het |
| Or1j18 |
T |
A |
2: 36,624,510 (GRCm39) |
M59K |
possibly damaging |
Het |
| Or4a74 |
T |
C |
2: 89,439,627 (GRCm39) |
Y273C |
probably damaging |
Het |
| Or4c119 |
T |
C |
2: 88,987,451 (GRCm39) |
K23E |
probably benign |
Het |
| Or56b2 |
T |
C |
7: 104,338,107 (GRCm39) |
M295T |
probably benign |
Het |
| Prkce |
T |
C |
17: 86,789,570 (GRCm39) |
V239A |
probably benign |
Het |
| Ralgapa1 |
C |
T |
12: 55,822,937 (GRCm39) |
C293Y |
probably damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,712,459 (GRCm39) |
R1804Q |
probably damaging |
Het |
| Rnf26 |
C |
A |
9: 44,024,071 (GRCm39) |
|
probably null |
Het |
| Safb2 |
T |
C |
17: 56,884,901 (GRCm39) |
D178G |
probably benign |
Het |
| Scn9a |
C |
T |
2: 66,395,511 (GRCm39) |
V178M |
possibly damaging |
Het |
| Sergef |
A |
G |
7: 46,285,026 (GRCm39) |
|
probably benign |
Het |
| Serpinb9 |
G |
A |
13: 33,190,544 (GRCm39) |
G7R |
probably benign |
Het |
| Setd2 |
C |
A |
9: 110,380,197 (GRCm39) |
D1337E |
probably benign |
Het |
| Shprh |
T |
A |
10: 11,030,449 (GRCm39) |
M222K |
probably benign |
Het |
| Slc25a40 |
T |
C |
5: 8,480,486 (GRCm39) |
Y79H |
probably damaging |
Het |
| Slc41a2 |
A |
G |
10: 83,133,155 (GRCm39) |
M297T |
probably damaging |
Het |
| Sparcl1 |
C |
T |
5: 104,233,629 (GRCm39) |
M573I |
probably damaging |
Het |
| Spcs1 |
A |
G |
14: 30,722,570 (GRCm39) |
L83S |
probably benign |
Het |
| Sult1c2 |
T |
C |
17: 54,276,743 (GRCm39) |
N106S |
probably benign |
Het |
| Szt2 |
C |
T |
4: 118,244,178 (GRCm39) |
R1309Q |
possibly damaging |
Het |
| Ube3c |
T |
A |
5: 29,840,709 (GRCm39) |
F695I |
probably damaging |
Het |
| Uimc1 |
A |
G |
13: 55,223,330 (GRCm39) |
L314P |
probably damaging |
Het |
| Usp17le |
C |
T |
7: 104,418,645 (GRCm39) |
E166K |
probably damaging |
Het |
| Vmn2r92 |
G |
A |
17: 18,372,312 (GRCm39) |
D41N |
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 |
|
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'- ACACGGTGAAGATTCCTCCAAAG -3'
(R):5'- AGGGATCCACAGTGCTACAC -3'
Sequencing Primer
(F):5'- GAGGGAATCAGAATTCAGTGTTTC -3'
(R):5'- GAAGCAAATCTCCAGTCTCAGG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation