Incidental Mutation 'R8080:Vmn2r60'
| ID |
629280 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r60
|
| Ensembl Gene |
ENSMUSG00000090619 |
| Gene Name |
vomeronasal 2, receptor 60 |
| Synonyms |
Casr-rs3, EG637898, Gprc2a-rs3 |
| MMRRC Submission |
067513-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R8080 (G1)
|
| Quality Score |
163.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
41765895-41845200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41790521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 503
(M503V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166447]
|
| AlphaFold |
A0A3B2WBC8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166447
AA Change: M503V
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000128493
Gene: ENSMUSG00000090619
AA Change: M503V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
78 |
471 |
1.2e-44 |
PFAM |
|
Pfam:NCD3G
|
514 |
567 |
5.1e-23 |
PFAM |
|
Pfam:7tm_3
|
600 |
835 |
1.4e-51 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 94.9%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aloxe3 |
A |
G |
11: 69,023,900 (GRCm39) |
Q277R |
probably damaging |
Het |
| Anapc5 |
T |
C |
5: 122,945,401 (GRCm39) |
N226D |
probably damaging |
Het |
| Arb2a |
T |
A |
13: 78,154,565 (GRCm39) |
L316Q |
probably damaging |
Het |
| Bcl2l11 |
T |
C |
2: 127,970,586 (GRCm39) |
C12R |
probably damaging |
Het |
| Bpnt1 |
A |
G |
1: 185,084,406 (GRCm39) |
T168A |
probably damaging |
Het |
| Brca2 |
A |
T |
5: 150,463,357 (GRCm39) |
E1040D |
probably benign |
Het |
| Cdca2 |
G |
A |
14: 67,915,004 (GRCm39) |
Q752* |
probably null |
Het |
| Cntn2 |
T |
C |
1: 132,449,536 (GRCm39) |
D635G |
probably damaging |
Het |
| Cntnap5b |
A |
T |
1: 99,999,928 (GRCm39) |
I229F |
probably benign |
Het |
| Ctr9 |
G |
A |
7: 110,650,774 (GRCm39) |
E900K |
possibly damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,690,500 (GRCm39) |
Y911C |
unknown |
Het |
| Egflam |
T |
A |
15: 7,427,561 (GRCm39) |
D2V |
probably benign |
Het |
| Enpep |
A |
T |
3: 129,092,783 (GRCm39) |
N505K |
probably damaging |
Het |
| Fam13a |
A |
G |
6: 58,933,790 (GRCm39) |
S267P |
probably damaging |
Het |
| Fancc |
G |
T |
13: 63,550,837 (GRCm39) |
T12K |
|
Het |
| Fbxo3 |
A |
G |
2: 103,864,012 (GRCm39) |
Y89C |
probably damaging |
Het |
| Garem2 |
A |
G |
5: 30,313,385 (GRCm39) |
Y83C |
probably damaging |
Het |
| Gm17079 |
T |
C |
14: 51,930,480 (GRCm39) |
T122A |
|
Het |
| Gm3696 |
A |
T |
14: 18,435,071 (GRCm39) |
L71* |
probably null |
Het |
| Gm4559 |
C |
T |
7: 141,827,553 (GRCm39) |
R183K |
unknown |
Het |
| Gmip |
A |
T |
8: 70,268,736 (GRCm39) |
T454S |
possibly damaging |
Het |
| Helz2 |
T |
A |
2: 180,880,055 (GRCm39) |
T554S |
probably damaging |
Het |
| Hoxc9 |
C |
T |
15: 102,890,551 (GRCm39) |
T156M |
probably benign |
Het |
| Hrc |
A |
G |
7: 44,986,262 (GRCm39) |
E471G |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,261,863 (GRCm39) |
I2655V |
probably benign |
Het |
| Ighv1-64 |
T |
C |
12: 115,471,463 (GRCm39) |
H18R |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,649,270 (GRCm39) |
Y47C |
probably benign |
Het |
| Jmjd4 |
A |
G |
11: 59,341,179 (GRCm39) |
T37A |
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,796,038 (GRCm39) |
G2915S |
possibly damaging |
Het |
| Kdm5d |
T |
C |
Y: 910,742 (GRCm39) |
F285L |
probably benign |
Het |
| Lmna |
A |
G |
3: 88,393,868 (GRCm39) |
F237L |
probably damaging |
Het |
| Med12l |
A |
G |
3: 59,172,607 (GRCm39) |
K1788E |
probably damaging |
Het |
| Mrgprb1 |
T |
C |
7: 48,096,658 (GRCm39) |
|
probably null |
Het |
| Myh1 |
T |
A |
11: 67,102,228 (GRCm39) |
Y840N |
probably benign |
Het |
| Negr1 |
C |
A |
3: 156,866,357 (GRCm39) |
A302E |
probably damaging |
Het |
| Nup188 |
T |
C |
2: 30,227,045 (GRCm39) |
V1206A |
possibly damaging |
Het |
| Nup205 |
T |
C |
6: 35,204,311 (GRCm39) |
L1399P |
probably damaging |
Het |
| Or13a20 |
T |
C |
7: 140,232,387 (GRCm39) |
M165T |
probably benign |
Het |
| Or4a81 |
T |
A |
2: 89,618,971 (GRCm39) |
I242F |
possibly damaging |
Het |
| Or5v1b |
G |
A |
17: 37,841,555 (GRCm39) |
R229H |
probably benign |
Het |
| Or6c69b |
T |
C |
10: 129,626,997 (GRCm39) |
I154V |
probably benign |
Het |
| Or8c14-ps1 |
T |
C |
9: 38,101,885 (GRCm39) |
L288S |
unknown |
Het |
| Pcdhb4 |
A |
G |
18: 37,442,349 (GRCm39) |
D553G |
probably benign |
Het |
| Phip |
A |
G |
9: 82,769,662 (GRCm39) |
L1147P |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,320,706 (GRCm39) |
D1567G |
probably benign |
Het |
| Pigz |
T |
C |
16: 31,760,858 (GRCm39) |
C20R |
probably damaging |
Het |
| Plpp1 |
A |
G |
13: 113,004,002 (GRCm39) |
K252R |
probably benign |
Het |
| Polr2a |
A |
T |
11: 69,625,874 (GRCm39) |
S1759T |
unknown |
Het |
| Rbm42 |
G |
T |
7: 30,345,136 (GRCm39) |
P212T |
unknown |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Slc35e1 |
G |
A |
8: 73,246,030 (GRCm39) |
P134L |
|
Het |
| Slc9a3 |
A |
C |
13: 74,314,146 (GRCm39) |
Q818P |
probably benign |
Het |
| St3gal4 |
T |
C |
9: 35,017,617 (GRCm39) |
|
probably null |
Het |
| Stard3nl |
G |
T |
13: 19,554,521 (GRCm39) |
A151E |
probably damaging |
Het |
| Syt9 |
T |
A |
7: 107,035,997 (GRCm39) |
I338N |
probably benign |
Het |
| Ticrr |
A |
T |
7: 79,334,012 (GRCm39) |
|
probably null |
Het |
| Tlr4 |
T |
A |
4: 66,757,713 (GRCm39) |
Y169N |
probably damaging |
Het |
| Tnc |
A |
C |
4: 63,894,706 (GRCm39) |
I1560S |
possibly damaging |
Het |
| Usp7 |
C |
A |
16: 8,515,771 (GRCm39) |
D644Y |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,618,577 (GRCm39) |
I1141T |
possibly damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfp384 |
T |
C |
6: 125,013,521 (GRCm39) |
S530P |
unknown |
Het |
| Zfp600 |
T |
A |
4: 146,133,182 (GRCm39) |
C617S |
unknown |
Het |
| Zfp819 |
A |
G |
7: 43,267,148 (GRCm39) |
R544G |
probably damaging |
Het |
|
| Other mutations in Vmn2r60 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01622:Vmn2r60
|
APN |
7 |
41,785,910 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01623:Vmn2r60
|
APN |
7 |
41,785,910 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02363:Vmn2r60
|
APN |
7 |
41,844,578 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02485:Vmn2r60
|
APN |
7 |
41,844,890 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02651:Vmn2r60
|
APN |
7 |
41,845,010 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02660:Vmn2r60
|
APN |
7 |
41,791,720 (GRCm39) |
nonsense |
probably null |
|
|
IGL03135:Vmn2r60
|
APN |
7 |
41,786,018 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL03307:Vmn2r60
|
APN |
7 |
41,765,971 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0310:Vmn2r60
|
UTSW |
7 |
41,844,564 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0314:Vmn2r60
|
UTSW |
7 |
41,784,985 (GRCm39) |
splice site |
probably benign |
|
|
R0328:Vmn2r60
|
UTSW |
7 |
41,791,744 (GRCm39) |
splice site |
probably benign |
|
|
R0464:Vmn2r60
|
UTSW |
7 |
41,785,255 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0755:Vmn2r60
|
UTSW |
7 |
41,844,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1119:Vmn2r60
|
UTSW |
7 |
41,844,365 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1162:Vmn2r60
|
UTSW |
7 |
41,845,195 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1241:Vmn2r60
|
UTSW |
7 |
41,786,476 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1404:Vmn2r60
|
UTSW |
7 |
41,786,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1404:Vmn2r60
|
UTSW |
7 |
41,786,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1488:Vmn2r60
|
UTSW |
7 |
41,786,137 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1623:Vmn2r60
|
UTSW |
7 |
41,785,279 (GRCm39) |
nonsense |
probably null |
|
|
R1628:Vmn2r60
|
UTSW |
7 |
41,785,830 (GRCm39) |
nonsense |
probably null |
|
|
R1883:Vmn2r60
|
UTSW |
7 |
41,786,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1884:Vmn2r60
|
UTSW |
7 |
41,786,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2182:Vmn2r60
|
UTSW |
7 |
41,844,931 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2275:Vmn2r60
|
UTSW |
7 |
41,786,251 (GRCm39) |
nonsense |
probably null |
|
|
R2847:Vmn2r60
|
UTSW |
7 |
41,785,857 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2885:Vmn2r60
|
UTSW |
7 |
41,790,403 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2894:Vmn2r60
|
UTSW |
7 |
41,785,220 (GRCm39) |
missense |
probably benign |
|
|
R2921:Vmn2r60
|
UTSW |
7 |
41,790,459 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2922:Vmn2r60
|
UTSW |
7 |
41,790,459 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3772:Vmn2r60
|
UTSW |
7 |
41,765,980 (GRCm39) |
missense |
probably benign |
0.35 |
|
R3820:Vmn2r60
|
UTSW |
7 |
41,785,125 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3822:Vmn2r60
|
UTSW |
7 |
41,785,125 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3872:Vmn2r60
|
UTSW |
7 |
41,785,878 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4222:Vmn2r60
|
UTSW |
7 |
41,765,952 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4223:Vmn2r60
|
UTSW |
7 |
41,765,952 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4224:Vmn2r60
|
UTSW |
7 |
41,765,952 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4526:Vmn2r60
|
UTSW |
7 |
41,844,667 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4547:Vmn2r60
|
UTSW |
7 |
41,785,087 (GRCm39) |
missense |
probably null |
0.54 |
|
R4840:Vmn2r60
|
UTSW |
7 |
41,785,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5173:Vmn2r60
|
UTSW |
7 |
41,844,935 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5231:Vmn2r60
|
UTSW |
7 |
41,786,448 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5480:Vmn2r60
|
UTSW |
7 |
41,785,154 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5521:Vmn2r60
|
UTSW |
7 |
41,845,049 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5834:Vmn2r60
|
UTSW |
7 |
41,765,932 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6038:Vmn2r60
|
UTSW |
7 |
41,844,386 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6038:Vmn2r60
|
UTSW |
7 |
41,844,386 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6112:Vmn2r60
|
UTSW |
7 |
41,844,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6149:Vmn2r60
|
UTSW |
7 |
41,786,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6170:Vmn2r60
|
UTSW |
7 |
41,785,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6383:Vmn2r60
|
UTSW |
7 |
41,765,895 (GRCm39) |
start codon destroyed |
probably null |
0.04 |
|
R6811:Vmn2r60
|
UTSW |
7 |
41,844,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6876:Vmn2r60
|
UTSW |
7 |
41,785,087 (GRCm39) |
missense |
probably null |
0.54 |
|
R6997:Vmn2r60
|
UTSW |
7 |
41,791,716 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7040:Vmn2r60
|
UTSW |
7 |
41,791,666 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7116:Vmn2r60
|
UTSW |
7 |
41,786,487 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7128:Vmn2r60
|
UTSW |
7 |
41,844,536 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7232:Vmn2r60
|
UTSW |
7 |
41,786,166 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7296:Vmn2r60
|
UTSW |
7 |
41,785,826 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7376:Vmn2r60
|
UTSW |
7 |
41,844,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7526:Vmn2r60
|
UTSW |
7 |
41,845,158 (GRCm39) |
frame shift |
probably null |
|
|
R7527:Vmn2r60
|
UTSW |
7 |
41,845,158 (GRCm39) |
frame shift |
probably null |
|
|
R7528:Vmn2r60
|
UTSW |
7 |
41,845,158 (GRCm39) |
frame shift |
probably null |
|
|
R7764:Vmn2r60
|
UTSW |
7 |
41,844,535 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7843:Vmn2r60
|
UTSW |
7 |
41,844,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8290:Vmn2r60
|
UTSW |
7 |
41,791,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8342:Vmn2r60
|
UTSW |
7 |
41,790,494 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8362:Vmn2r60
|
UTSW |
7 |
41,844,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8418:Vmn2r60
|
UTSW |
7 |
41,844,850 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8848:Vmn2r60
|
UTSW |
7 |
41,786,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8860:Vmn2r60
|
UTSW |
7 |
41,791,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8882:Vmn2r60
|
UTSW |
7 |
41,790,518 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8913:Vmn2r60
|
UTSW |
7 |
41,785,778 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9190:Vmn2r60
|
UTSW |
7 |
41,844,935 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9229:Vmn2r60
|
UTSW |
7 |
41,791,723 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9295:Vmn2r60
|
UTSW |
7 |
41,785,955 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9335:Vmn2r60
|
UTSW |
7 |
41,844,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9796:Vmn2r60
|
UTSW |
7 |
41,785,172 (GRCm39) |
missense |
probably benign |
|
|
RF024:Vmn2r60
|
UTSW |
7 |
41,790,363 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0023:Vmn2r60
|
UTSW |
7 |
41,790,538 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTCACCCTTTCCTAAAGAAC -3'
(R):5'- TTCCGAGGCAGTAACTAATAGAC -3'
Sequencing Primer
(F):5'- CCCTTTCCTAAAGAACACGATAATG -3'
(R):5'- GGTCATGACATCCTGAGA -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation