Incidental Mutation 'R5521:Vmn2r60'
| ID |
431546 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r60
|
| Ensembl Gene |
ENSMUSG00000090619 |
| Gene Name |
vomeronasal 2, receptor 60 |
| Synonyms |
Casr-rs3, EG637898, Gprc2a-rs3 |
| MMRRC Submission |
043080-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R5521 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
41765895-41845200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 41845049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 804
(T804K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166447]
|
| AlphaFold |
A0A3B2WBC8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166447
AA Change: T804K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128493
Gene: ENSMUSG00000090619
AA Change: T804K
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.5%
- 10x: 94.4%
- 20x: 87.5%
|
| Validation Efficiency |
94% (72/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
A |
G |
9: 44,190,980 (GRCm39) |
|
probably benign |
Het |
| Abhd14a |
G |
T |
9: 106,321,033 (GRCm39) |
D107E |
probably damaging |
Het |
| Acat1 |
T |
A |
9: 53,494,807 (GRCm39) |
K362* |
probably null |
Het |
| Adad2 |
T |
A |
8: 120,339,528 (GRCm39) |
S3R |
probably benign |
Het |
| Adcy8 |
C |
A |
15: 64,687,199 (GRCm39) |
R435M |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,567,508 (GRCm39) |
S5222T |
probably benign |
Het |
| Ankk1 |
A |
T |
9: 49,331,748 (GRCm39) |
M182K |
probably benign |
Het |
| Apba1 |
C |
T |
19: 23,870,957 (GRCm39) |
P263L |
probably damaging |
Het |
| Arhgap39 |
G |
A |
15: 76,649,694 (GRCm39) |
S26L |
possibly damaging |
Het |
| Ccng1 |
G |
A |
11: 40,643,093 (GRCm39) |
T118I |
possibly damaging |
Het |
| Cenpe |
T |
C |
3: 134,974,826 (GRCm39) |
S2329P |
probably damaging |
Het |
| Chil4 |
A |
G |
3: 106,111,013 (GRCm39) |
Y294H |
possibly damaging |
Het |
| Chst8 |
A |
C |
7: 34,374,670 (GRCm39) |
S390A |
probably benign |
Het |
| Dars1 |
T |
C |
1: 128,301,710 (GRCm39) |
D308G |
probably benign |
Het |
| Dlec1 |
A |
C |
9: 118,972,469 (GRCm39) |
Q1458P |
possibly damaging |
Het |
| Dvl2 |
G |
A |
11: 69,897,233 (GRCm39) |
E312K |
probably damaging |
Het |
| Fchsd1 |
T |
C |
18: 38,099,537 (GRCm39) |
H219R |
probably damaging |
Het |
| Foxd4 |
A |
C |
19: 24,877,007 (GRCm39) |
C398G |
probably damaging |
Het |
| Gm10719 |
T |
A |
9: 3,018,970 (GRCm39) |
F72I |
probably damaging |
Het |
| Gm5414 |
T |
C |
15: 101,536,422 (GRCm39) |
I68V |
probably benign |
Het |
| Gmip |
C |
T |
8: 70,270,049 (GRCm39) |
T684I |
probably damaging |
Het |
| Gpr137c |
T |
C |
14: 45,516,151 (GRCm39) |
I295T |
possibly damaging |
Het |
| Hivep1 |
T |
A |
13: 42,311,804 (GRCm39) |
M1348K |
probably damaging |
Het |
| Igkv6-23 |
T |
C |
6: 70,237,597 (GRCm39) |
D48G |
probably benign |
Het |
| Il3 |
G |
A |
11: 54,157,958 (GRCm39) |
T40M |
possibly damaging |
Het |
| Ing2 |
T |
C |
8: 48,122,248 (GRCm39) |
E100G |
probably damaging |
Het |
| Itpr3 |
C |
A |
17: 27,326,308 (GRCm39) |
H1359Q |
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,087,889 (GRCm39) |
Y1502* |
probably null |
Het |
| Mamdc2 |
C |
A |
19: 23,288,302 (GRCm39) |
G579W |
probably damaging |
Het |
| Mapk6 |
G |
A |
9: 75,300,598 (GRCm39) |
|
probably benign |
Het |
| Mapk8ip2 |
C |
T |
15: 89,343,007 (GRCm39) |
R616W |
probably damaging |
Het |
| Mc5r |
T |
A |
18: 68,472,748 (GRCm39) |
L369H |
possibly damaging |
Het |
| Meis1 |
T |
C |
11: 18,938,260 (GRCm39) |
|
probably benign |
Het |
| Mmp8 |
A |
G |
9: 7,560,644 (GRCm39) |
K107R |
probably benign |
Het |
| Mn1 |
C |
T |
5: 111,569,635 (GRCm39) |
H1202Y |
possibly damaging |
Het |
| Naip2 |
A |
G |
13: 100,291,422 (GRCm39) |
L1172P |
probably damaging |
Het |
| Nek9 |
C |
T |
12: 85,374,219 (GRCm39) |
D273N |
probably benign |
Het |
| Nlrp4e |
A |
T |
7: 23,021,190 (GRCm39) |
D559V |
probably benign |
Het |
| Nlrp4g |
T |
C |
9: 124,350,020 (GRCm38) |
|
noncoding transcript |
Het |
| Oit3 |
G |
T |
10: 59,271,736 (GRCm39) |
A207E |
probably benign |
Het |
| Or13j1 |
A |
T |
4: 43,705,788 (GRCm39) |
M260K |
possibly damaging |
Het |
| Or14a257 |
A |
T |
7: 86,137,839 (GRCm39) |
C307S |
probably benign |
Het |
| Or4d2b |
A |
T |
11: 87,780,545 (GRCm39) |
M59K |
probably damaging |
Het |
| Or5w16 |
A |
G |
2: 87,577,406 (GRCm39) |
I289V |
probably benign |
Het |
| Pde4c |
T |
C |
8: 71,200,031 (GRCm39) |
|
probably null |
Het |
| Ppp1r26 |
A |
G |
2: 28,341,438 (GRCm39) |
E356G |
probably benign |
Het |
| Pramel13 |
A |
G |
4: 144,122,541 (GRCm39) |
M1T |
probably null |
Het |
| Ptges3-ps |
T |
A |
6: 85,821,303 (GRCm39) |
|
noncoding transcript |
Het |
| Ptpn13 |
T |
G |
5: 103,649,294 (GRCm39) |
F232L |
probably benign |
Het |
| Reps1 |
T |
C |
10: 17,979,982 (GRCm39) |
S114P |
probably damaging |
Het |
| Scarf2 |
T |
A |
16: 17,621,466 (GRCm39) |
|
probably null |
Het |
| Sdha |
A |
T |
13: 74,498,218 (GRCm39) |
|
probably benign |
Het |
| Secisbp2l |
A |
T |
2: 125,594,897 (GRCm39) |
V146D |
possibly damaging |
Het |
| Slc26a8 |
T |
A |
17: 28,873,833 (GRCm39) |
T385S |
probably benign |
Het |
| Slc4a1 |
G |
A |
11: 102,244,092 (GRCm39) |
T679M |
probably benign |
Het |
| Tbc1d14 |
T |
A |
5: 36,677,896 (GRCm39) |
E353V |
probably damaging |
Het |
| Thap2 |
T |
A |
10: 115,208,665 (GRCm39) |
K152* |
probably null |
Het |
| Thbd |
A |
T |
2: 148,249,655 (GRCm39) |
I71N |
probably damaging |
Het |
| V1ra8 |
T |
A |
6: 90,180,036 (GRCm39) |
W80R |
probably damaging |
Het |
| Vmn1r218 |
A |
G |
13: 23,320,743 (GRCm39) |
Y30C |
probably benign |
Het |
| Vmn2r68 |
A |
T |
7: 84,882,926 (GRCm39) |
D275E |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,858,721 (GRCm39) |
I2724V |
probably benign |
Het |
| Xrcc5 |
C |
A |
1: 72,385,430 (GRCm39) |
P507Q |
probably damaging |
Het |
| Zfp120 |
A |
T |
2: 149,959,499 (GRCm39) |
Y274* |
probably null |
Het |
| Zfp780b |
C |
A |
7: 27,674,173 (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 |
|
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 |
|
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'- TCAACAGTTGCCTTCCACAC -3'
(R):5'- CATTTACAATGCTGTGCCATTG -3'
Sequencing Primer
(F):5'- TCCACACTGTCCTGGGGTAC -3'
(R):5'- GTGCCTGACACCAAGATA -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation