Incidental Mutation 'R6883:Vmn2r51'
| ID |
536894 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r51
|
| Ensembl Gene |
ENSMUSG00000058685 |
| Gene Name |
vomeronasal 2, receptor 51 |
| Synonyms |
|
| MMRRC Submission |
044978-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R6883 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
9821125-9839586 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 9834025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 338
(Q338K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092459
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094863]
|
| AlphaFold |
L7N215 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094863
AA Change: Q338K
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000092459
Gene: ENSMUSG00000058685
AA Change: Q338K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
469 |
2.4e-31 |
PFAM |
|
Pfam:NCD3G
|
512 |
565 |
8.1e-21 |
PFAM |
|
Pfam:7tm_3
|
598 |
833 |
2.7e-54 |
PFAM |
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
92% (45/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1b |
A |
G |
9: 118,985,728 (GRCm39) |
S66P |
possibly damaging |
Het |
| Adh7 |
A |
T |
3: 137,929,825 (GRCm39) |
E167V |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,859,992 (GRCm39) |
S705P |
probably damaging |
Het |
| Arpc1b |
T |
C |
5: 145,063,739 (GRCm39) |
V329A |
probably benign |
Het |
| Btla |
C |
T |
16: 45,063,092 (GRCm39) |
H152Y |
probably benign |
Het |
| Cadps |
T |
C |
14: 12,465,883 (GRCm38) |
E1009G |
probably damaging |
Het |
| Cttnbp2nl |
A |
G |
3: 104,918,507 (GRCm39) |
|
probably null |
Het |
| Cyp4a12a |
G |
T |
4: 115,159,221 (GRCm39) |
V164F |
probably damaging |
Het |
| Duox1 |
G |
T |
2: 122,155,065 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
A |
T |
7: 27,852,260 (GRCm39) |
H1261L |
possibly damaging |
Het |
| Fmo6 |
A |
G |
1: 162,757,461 (GRCm39) |
I104T |
probably damaging |
Het |
| Fnbp4 |
T |
C |
2: 90,576,172 (GRCm39) |
|
probably null |
Het |
| Garem1 |
T |
C |
18: 21,262,769 (GRCm39) |
T682A |
probably benign |
Het |
| Gm49358 |
A |
G |
10: 86,651,762 (GRCm39) |
E188G |
probably benign |
Het |
| Gm5773 |
T |
C |
3: 93,681,162 (GRCm39) |
I278T |
probably benign |
Het |
| Ifi27l2a |
A |
G |
12: 103,409,756 (GRCm39) |
|
probably benign |
Het |
| Inpp5d |
A |
C |
1: 87,627,412 (GRCm39) |
K308T |
probably damaging |
Het |
| Irf6 |
A |
T |
1: 192,849,774 (GRCm39) |
Y232F |
probably damaging |
Het |
| Kcnmb4 |
T |
C |
10: 116,309,248 (GRCm39) |
Q60R |
probably benign |
Het |
| Klri2 |
T |
C |
6: 129,709,985 (GRCm39) |
D205G |
probably benign |
Het |
| Mcm9 |
A |
T |
10: 53,492,110 (GRCm39) |
W352R |
probably damaging |
Het |
| Nat8 |
A |
G |
6: 85,807,650 (GRCm39) |
V161A |
possibly damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,077,556 (GRCm39) |
M742K |
probably benign |
Het |
| Or10ag58 |
C |
A |
2: 87,265,623 (GRCm39) |
T264K |
probably damaging |
Het |
| Or13j1 |
T |
C |
4: 43,705,723 (GRCm39) |
T282A |
possibly damaging |
Het |
| Or5an10 |
C |
A |
19: 12,275,934 (GRCm39) |
Q187H |
probably damaging |
Het |
| Pcdha11 |
A |
T |
18: 37,144,242 (GRCm39) |
D111V |
probably damaging |
Het |
| Pcdhb6 |
A |
T |
18: 37,468,198 (GRCm39) |
D373V |
probably damaging |
Het |
| Pcolce2 |
A |
T |
9: 95,560,396 (GRCm39) |
|
probably null |
Het |
| Pik3cb |
T |
C |
9: 98,983,453 (GRCm39) |
M52V |
probably benign |
Het |
| Pipox |
T |
C |
11: 77,774,729 (GRCm39) |
E118G |
probably benign |
Het |
| Pou4f2 |
T |
C |
8: 79,162,307 (GRCm39) |
S99G |
probably benign |
Het |
| Ptpn12 |
T |
A |
5: 21,260,711 (GRCm39) |
Q12L |
probably benign |
Het |
| Sim2 |
G |
T |
16: 93,926,395 (GRCm39) |
A540S |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,767,403 (GRCm39) |
|
probably benign |
Het |
| Sntb1 |
A |
G |
15: 55,769,719 (GRCm39) |
V90A |
probably benign |
Het |
| Spns2 |
T |
C |
11: 72,347,196 (GRCm39) |
|
probably null |
Het |
| Syne1 |
G |
T |
10: 5,181,704 (GRCm39) |
C4210* |
probably null |
Het |
| Tek |
T |
C |
4: 94,725,426 (GRCm39) |
I564T |
possibly damaging |
Het |
| Tmem94 |
T |
G |
11: 115,687,287 (GRCm39) |
C1135W |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,937,493 (GRCm39) |
D3827E |
probably damaging |
Het |
| Ttl |
A |
G |
2: 128,923,992 (GRCm39) |
D235G |
possibly damaging |
Het |
| Tuba4a |
A |
G |
1: 75,194,066 (GRCm39) |
S5P |
probably damaging |
Het |
| Uaca |
T |
A |
9: 60,777,173 (GRCm39) |
V518D |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,685,563 (GRCm39) |
Q2229L |
probably benign |
Het |
| Unkl |
C |
T |
17: 25,449,307 (GRCm39) |
A78V |
probably damaging |
Het |
| Uroc1 |
C |
T |
6: 90,315,574 (GRCm39) |
Q152* |
probably null |
Het |
| Vps50 |
C |
T |
6: 3,498,513 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Vmn2r51 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01398:Vmn2r51
|
APN |
7 |
9,836,341 (GRCm39) |
missense |
probably benign |
|
|
IGL01574:Vmn2r51
|
APN |
7 |
9,836,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01743:Vmn2r51
|
APN |
7 |
9,834,154 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01820:Vmn2r51
|
APN |
7 |
9,839,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02563:Vmn2r51
|
APN |
7 |
9,834,243 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02825:Vmn2r51
|
APN |
7 |
9,832,046 (GRCm39) |
splice site |
probably benign |
|
|
IGL02834:Vmn2r51
|
APN |
7 |
9,832,063 (GRCm39) |
nonsense |
probably null |
|
|
R0617:Vmn2r51
|
UTSW |
7 |
9,834,396 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0967:Vmn2r51
|
UTSW |
7 |
9,834,012 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1465:Vmn2r51
|
UTSW |
7 |
9,834,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Vmn2r51
|
UTSW |
7 |
9,834,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1559:Vmn2r51
|
UTSW |
7 |
9,836,373 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1559:Vmn2r51
|
UTSW |
7 |
9,836,372 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1598:Vmn2r51
|
UTSW |
7 |
9,839,432 (GRCm39) |
missense |
probably benign |
|
|
R1754:Vmn2r51
|
UTSW |
7 |
9,833,873 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1836:Vmn2r51
|
UTSW |
7 |
9,832,091 (GRCm39) |
nonsense |
probably null |
|
|
R1836:Vmn2r51
|
UTSW |
7 |
9,832,090 (GRCm39) |
nonsense |
probably null |
|
|
R3151:Vmn2r51
|
UTSW |
7 |
9,833,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4566:Vmn2r51
|
UTSW |
7 |
9,836,341 (GRCm39) |
missense |
probably benign |
|
|
R4933:Vmn2r51
|
UTSW |
7 |
9,832,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5004:Vmn2r51
|
UTSW |
7 |
9,821,932 (GRCm39) |
missense |
probably benign |
|
|
R5050:Vmn2r51
|
UTSW |
7 |
9,834,349 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5510:Vmn2r51
|
UTSW |
7 |
9,836,545 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5559:Vmn2r51
|
UTSW |
7 |
9,826,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6127:Vmn2r51
|
UTSW |
7 |
9,839,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6154:Vmn2r51
|
UTSW |
7 |
9,821,921 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6304:Vmn2r51
|
UTSW |
7 |
9,832,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6370:Vmn2r51
|
UTSW |
7 |
9,832,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6471:Vmn2r51
|
UTSW |
7 |
9,836,510 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6800:Vmn2r51
|
UTSW |
7 |
9,832,191 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7191:Vmn2r51
|
UTSW |
7 |
9,834,480 (GRCm39) |
missense |
probably null |
1.00 |
|
R7246:Vmn2r51
|
UTSW |
7 |
9,836,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8939:Vmn2r51
|
UTSW |
7 |
9,833,953 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9154:Vmn2r51
|
UTSW |
7 |
9,839,480 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9428:Vmn2r51
|
UTSW |
7 |
9,833,712 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9451:Vmn2r51
|
UTSW |
7 |
9,833,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9729:Vmn2r51
|
UTSW |
7 |
9,839,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9767:Vmn2r51
|
UTSW |
7 |
9,839,407 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1176:Vmn2r51
|
UTSW |
7 |
9,833,835 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1176:Vmn2r51
|
UTSW |
7 |
9,821,984 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTACTCTCACTAAAGGTCATGTC -3'
(R):5'- TGTACTACAGCCAAATTGTGATGTC -3'
Sequencing Primer
(F):5'- AAGGTCATGTCAAACTTCTGTTCC -3'
(R):5'- CAGCCAAATTGTGATGTCATTAAC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation