Incidental Mutation 'R7116:Vmn2r60'
| ID |
551768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r60
|
| Ensembl Gene |
ENSMUSG00000090619 |
| Gene Name |
vomeronasal 2, receptor 60 |
| Synonyms |
Casr-rs3, EG637898, Gprc2a-rs3 |
| MMRRC Submission |
045207-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R7116 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
41765895-41845200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 41786487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 430
(M430K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166447]
|
| AlphaFold |
A0A3B2WBC8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166447
AA Change: M430K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000128493
Gene: ENSMUSG00000090619
AA Change: M430K
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
A |
G |
12: 80,251,751 (GRCm39) |
S109P |
probably damaging |
Het |
| Afg3l1 |
T |
G |
8: 124,216,601 (GRCm39) |
L280R |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,369,943 (GRCm39) |
S129T |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,622,869 (GRCm39) |
S328P |
probably damaging |
Het |
| Aox3 |
A |
T |
1: 58,192,689 (GRCm39) |
E554D |
probably benign |
Het |
| Bcl11a |
T |
C |
11: 24,113,839 (GRCm39) |
V394A |
probably damaging |
Het |
| Cass4 |
A |
G |
2: 172,269,889 (GRCm39) |
Y657C |
unknown |
Het |
| Ccdc88a |
C |
T |
11: 29,454,051 (GRCm39) |
A1738V |
probably benign |
Het |
| Cfap74 |
T |
C |
4: 155,539,518 (GRCm39) |
F948L |
unknown |
Het |
| Chgb |
A |
T |
2: 132,623,237 (GRCm39) |
|
probably benign |
Het |
| Coro1c |
C |
T |
5: 113,990,267 (GRCm39) |
W138* |
probably null |
Het |
| Dgkb |
A |
G |
12: 38,031,989 (GRCm39) |
Q17R |
probably benign |
Het |
| Esco2 |
A |
G |
14: 66,064,006 (GRCm39) |
Y393H |
probably damaging |
Het |
| Eya3 |
T |
A |
4: 132,422,110 (GRCm39) |
D228E |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,173,162 (GRCm39) |
D2517G |
probably damaging |
Het |
| Fry |
T |
A |
5: 150,319,334 (GRCm39) |
|
probably null |
Het |
| Gal3st2b |
A |
T |
1: 93,868,498 (GRCm39) |
Q243L |
possibly damaging |
Het |
| Gimap9 |
C |
T |
6: 48,654,989 (GRCm39) |
A192V |
probably benign |
Het |
| Glg1 |
T |
A |
8: 111,905,589 (GRCm39) |
Q564L |
probably benign |
Het |
| H2-Aa |
A |
T |
17: 34,502,601 (GRCm39) |
Y188* |
probably null |
Het |
| Hira |
T |
C |
16: 18,730,864 (GRCm39) |
Y188H |
probably damaging |
Het |
| Ighv8-8 |
C |
T |
12: 115,257,814 (GRCm39) |
D76N |
probably benign |
Het |
| Irf6 |
T |
C |
1: 192,849,905 (GRCm39) |
F276L |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,458,229 (GRCm39) |
C2000R |
probably damaging |
Het |
| Jakmip3 |
T |
C |
7: 138,621,979 (GRCm39) |
V293A |
possibly damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,707,614 (GRCm39) |
V132A |
probably benign |
Het |
| Kcnj1 |
A |
G |
9: 32,308,277 (GRCm39) |
T234A |
possibly damaging |
Het |
| Kpna3 |
T |
A |
14: 61,605,635 (GRCm39) |
N470I |
probably benign |
Het |
| Lamb2 |
T |
C |
9: 108,364,522 (GRCm39) |
F1121L |
probably damaging |
Het |
| Lingo1 |
T |
C |
9: 56,527,911 (GRCm39) |
D232G |
probably benign |
Het |
| Lpxn |
T |
A |
19: 12,788,622 (GRCm39) |
N70K |
probably benign |
Het |
| Ltbp4 |
T |
A |
7: 27,004,852 (GRCm39) |
H1657L |
probably damaging |
Het |
| Luzp2 |
C |
A |
7: 54,915,078 (GRCm39) |
F334L |
possibly damaging |
Het |
| Mgat5b |
A |
T |
11: 116,835,785 (GRCm39) |
S142C |
possibly damaging |
Het |
| Mroh7 |
G |
A |
4: 106,568,517 (GRCm39) |
T396I |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,417,487 (GRCm39) |
S3478P |
probably benign |
Het |
| Nfatc2 |
A |
T |
2: 168,349,269 (GRCm39) |
M626K |
probably benign |
Het |
| Nlrp14 |
A |
G |
7: 106,782,255 (GRCm39) |
D484G |
possibly damaging |
Het |
| Npc1 |
T |
C |
18: 12,344,601 (GRCm39) |
Y423C |
probably damaging |
Het |
| Nrsn1 |
A |
G |
13: 25,437,388 (GRCm39) |
I180T |
probably damaging |
Het |
| Or11g25 |
A |
T |
14: 50,723,025 (GRCm39) |
I37F |
probably benign |
Het |
| Or51a8 |
T |
A |
7: 102,549,842 (GRCm39) |
N89K |
probably benign |
Het |
| Osbpl6 |
A |
T |
2: 76,426,225 (GRCm39) |
I935F |
probably benign |
Het |
| Otog |
T |
C |
7: 45,947,689 (GRCm39) |
F96L |
probably damaging |
Het |
| Pde1b |
T |
C |
15: 103,436,745 (GRCm39) |
L534P |
possibly damaging |
Het |
| Pdzd8 |
C |
T |
19: 59,288,125 (GRCm39) |
E1092K |
probably damaging |
Het |
| Pfkl |
T |
C |
10: 77,837,249 (GRCm39) |
H108R |
probably benign |
Het |
| Pkhd1l1 |
G |
A |
15: 44,421,372 (GRCm39) |
V3047I |
probably benign |
Het |
| Plag1 |
A |
T |
4: 3,904,812 (GRCm39) |
C126* |
probably null |
Het |
| Pphln1 |
T |
A |
15: 93,353,406 (GRCm39) |
S229T |
probably benign |
Het |
| Pramel5 |
C |
T |
4: 144,000,451 (GRCm39) |
D42N |
possibly damaging |
Het |
| Psd3 |
A |
G |
8: 68,166,390 (GRCm39) |
V915A |
probably benign |
Het |
| Ptdss1 |
T |
A |
13: 67,093,391 (GRCm39) |
I77N |
probably benign |
Het |
| Rsbn1 |
T |
A |
3: 103,821,892 (GRCm39) |
C3* |
probably null |
Het |
| Shank1 |
C |
T |
7: 43,976,585 (GRCm39) |
A561V |
unknown |
Het |
| Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
| Sv2c |
A |
T |
13: 96,113,152 (GRCm39) |
V599E |
probably damaging |
Het |
| Vmn2r37 |
T |
C |
7: 9,220,898 (GRCm39) |
T322A |
probably benign |
Het |
| Wipf3 |
T |
A |
6: 54,458,904 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R8080:Vmn2r60
|
UTSW |
7 |
41,790,521 (GRCm39) |
missense |
probably benign |
0.30 |
|
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'- AGCTTTTGGAGAACTGCCAACC -3'
(R):5'- ACAGAGAGACAATATTCCCTCTCTTG -3'
Sequencing Primer
(F):5'- TTTTGGAGAACTGCCAACCCAATG -3'
(R):5'- CTCTTGCTTATTGACAGCATAGTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation