Incidental Mutation 'R6986:Vmn2r120'
| ID |
543001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r120
|
| Ensembl Gene |
ENSMUSG00000090655 |
| Gene Name |
vomeronasal 2, receptor 120 |
| Synonyms |
EG224916 |
| MMRRC Submission |
045093-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R6986 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
57815783-57852314 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57816340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 672
(S672T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165781]
|
| AlphaFold |
A0A3Q4EG79 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165781
AA Change: S672T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129296
Gene: ENSMUSG00000090655
AA Change: S672T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
80 |
474 |
5.9e-42 |
PFAM |
|
Pfam:NCD3G
|
517 |
570 |
7.5e-22 |
PFAM |
|
Pfam:7tm_3
|
598 |
836 |
1.3e-54 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 98.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy9 |
T |
C |
16: 4,129,441 (GRCm39) |
N482D |
probably damaging |
Het |
| Agbl3 |
A |
G |
6: 34,816,387 (GRCm39) |
K766E |
probably benign |
Het |
| Aldh3a1 |
T |
A |
11: 61,105,077 (GRCm39) |
I154N |
probably damaging |
Het |
| Cdca2 |
C |
T |
14: 67,932,446 (GRCm39) |
V486I |
probably benign |
Het |
| Celf3 |
G |
C |
3: 94,395,024 (GRCm39) |
A313P |
possibly damaging |
Het |
| Cgrrf1 |
T |
C |
14: 47,069,586 (GRCm39) |
|
probably benign |
Het |
| Chd7 |
T |
A |
4: 8,859,285 (GRCm39) |
N2458K |
possibly damaging |
Het |
| Chrna5 |
T |
A |
9: 54,913,741 (GRCm39) |
M429K |
possibly damaging |
Het |
| Cux2 |
A |
T |
5: 122,006,642 (GRCm39) |
L876Q |
possibly damaging |
Het |
| Cyb5rl |
T |
A |
4: 106,928,073 (GRCm39) |
S3T |
probably benign |
Het |
| Ehd4 |
A |
T |
2: 119,927,571 (GRCm39) |
M321K |
probably damaging |
Het |
| Ell2 |
C |
A |
13: 75,910,006 (GRCm39) |
L119M |
probably damaging |
Het |
| Endod1 |
T |
C |
9: 14,268,606 (GRCm39) |
E293G |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,932,631 (GRCm39) |
T1434I |
probably damaging |
Het |
| Flrt2 |
T |
A |
12: 95,747,459 (GRCm39) |
I599N |
probably damaging |
Het |
| Gm6370 |
T |
A |
5: 146,430,398 (GRCm39) |
|
probably null |
Het |
| Gm7247 |
T |
C |
14: 51,602,832 (GRCm39) |
M56T |
possibly damaging |
Het |
| H3c8 |
A |
G |
13: 23,719,603 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
G |
A |
7: 55,756,201 (GRCm39) |
R747H |
possibly damaging |
Het |
| Ints8 |
T |
C |
4: 11,204,474 (GRCm39) |
Y994C |
probably damaging |
Het |
| Irf1 |
A |
G |
11: 53,664,966 (GRCm39) |
T165A |
probably damaging |
Het |
| Lgr6 |
G |
T |
1: 134,921,694 (GRCm39) |
Q217K |
possibly damaging |
Het |
| Lrrc36 |
T |
C |
8: 106,185,079 (GRCm39) |
S619P |
probably damaging |
Het |
| Morn4 |
T |
C |
19: 42,066,453 (GRCm39) |
N45D |
possibly damaging |
Het |
| Mtarc2 |
T |
C |
1: 184,573,460 (GRCm39) |
H53R |
probably benign |
Het |
| Mtmr3 |
T |
C |
11: 4,439,692 (GRCm39) |
T583A |
probably damaging |
Het |
| Ncdn |
A |
G |
4: 126,641,022 (GRCm39) |
Y493H |
probably damaging |
Het |
| Nckap1 |
T |
A |
2: 80,350,911 (GRCm39) |
Y726F |
probably benign |
Het |
| Optc |
T |
A |
1: 133,825,702 (GRCm39) |
M275L |
probably benign |
Het |
| Or2w25 |
A |
G |
11: 59,504,924 (GRCm39) |
K378R |
possibly damaging |
Het |
| Or6c69c |
G |
A |
10: 129,911,199 (GRCm39) |
V307M |
possibly damaging |
Het |
| Perm1 |
A |
T |
4: 156,302,976 (GRCm39) |
K507* |
probably null |
Het |
| Pgbd5 |
C |
T |
8: 125,111,212 (GRCm39) |
E160K |
possibly damaging |
Het |
| Polr2k |
C |
A |
15: 36,175,181 (GRCm39) |
P14T |
probably benign |
Het |
| Ppp2r3d |
A |
T |
9: 124,439,080 (GRCm38) |
Y112* |
probably null |
Het |
| Pramel14 |
T |
A |
4: 143,719,888 (GRCm39) |
D159V |
probably damaging |
Het |
| Rnase9 |
T |
C |
14: 51,276,537 (GRCm39) |
N147S |
probably benign |
Het |
| Rnls |
C |
T |
19: 33,359,781 (GRCm39) |
G11D |
probably damaging |
Het |
| Sbf2 |
T |
C |
7: 109,929,822 (GRCm39) |
T333A |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,338,962 (GRCm39) |
N572K |
probably damaging |
Het |
| Serinc3 |
A |
G |
2: 163,469,891 (GRCm39) |
L319P |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,901,054 (GRCm39) |
D871G |
probably damaging |
Het |
| Sf3b2 |
T |
C |
19: 5,329,923 (GRCm39) |
T661A |
probably benign |
Het |
| Sgsm2 |
T |
A |
11: 74,782,867 (GRCm39) |
R30W |
probably damaging |
Het |
| Sh3tc1 |
A |
G |
5: 35,881,288 (GRCm39) |
S52P |
probably benign |
Het |
| Smox |
C |
T |
2: 131,364,031 (GRCm39) |
A45V |
possibly damaging |
Het |
| Snrpa |
A |
T |
7: 26,892,389 (GRCm39) |
M57K |
probably damaging |
Het |
| Spata31f3 |
A |
G |
4: 42,868,696 (GRCm39) |
V309A |
possibly damaging |
Het |
| Srbd1 |
A |
T |
17: 86,292,650 (GRCm39) |
I973N |
probably damaging |
Het |
| Srp72 |
T |
A |
5: 77,142,723 (GRCm39) |
S428T |
probably benign |
Het |
| Ss18l2 |
A |
G |
9: 121,541,671 (GRCm39) |
Y50C |
probably damaging |
Het |
| St14 |
A |
G |
9: 31,007,845 (GRCm39) |
L578P |
probably damaging |
Het |
| Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
| Tmc1 |
T |
C |
19: 20,801,647 (GRCm39) |
N460D |
probably benign |
Het |
| Tnni3k |
C |
T |
3: 154,667,501 (GRCm39) |
G280R |
probably damaging |
Het |
| Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
| Trpc3 |
A |
G |
3: 36,709,165 (GRCm39) |
|
probably null |
Het |
| Tshr |
C |
T |
12: 91,500,731 (GRCm39) |
A152V |
probably damaging |
Het |
| Tuft1 |
G |
A |
3: 94,521,461 (GRCm39) |
P358S |
probably damaging |
Het |
| Vmn2r83 |
G |
T |
10: 79,316,093 (GRCm39) |
E496D |
probably benign |
Het |
| Vmn2r91 |
A |
G |
17: 18,356,271 (GRCm39) |
N646S |
probably benign |
Het |
| Zfp9 |
A |
G |
6: 118,441,426 (GRCm39) |
V412A |
possibly damaging |
Het |
| Zmynd8 |
G |
T |
2: 165,675,335 (GRCm39) |
H273N |
probably damaging |
Het |
|
| Other mutations in Vmn2r120 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01335:Vmn2r120
|
APN |
17 |
57,832,732 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01346:Vmn2r120
|
APN |
17 |
57,852,232 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01996:Vmn2r120
|
APN |
17 |
57,832,222 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02503:Vmn2r120
|
APN |
17 |
57,816,385 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02582:Vmn2r120
|
APN |
17 |
57,831,724 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02747:Vmn2r120
|
APN |
17 |
57,831,719 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02896:Vmn2r120
|
APN |
17 |
57,816,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03139:Vmn2r120
|
APN |
17 |
57,831,742 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL03342:Vmn2r120
|
APN |
17 |
57,816,372 (GRCm39) |
missense |
probably benign |
0.03 |
|
A4554:Vmn2r120
|
UTSW |
17 |
57,832,715 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0207:Vmn2r120
|
UTSW |
17 |
57,832,052 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0472:Vmn2r120
|
UTSW |
17 |
57,831,518 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0517:Vmn2r120
|
UTSW |
17 |
57,815,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1109:Vmn2r120
|
UTSW |
17 |
57,832,829 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1316:Vmn2r120
|
UTSW |
17 |
57,832,939 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1543:Vmn2r120
|
UTSW |
17 |
57,829,374 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1795:Vmn2r120
|
UTSW |
17 |
57,832,038 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1850:Vmn2r120
|
UTSW |
17 |
57,832,826 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1920:Vmn2r120
|
UTSW |
17 |
57,831,839 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1921:Vmn2r120
|
UTSW |
17 |
57,831,839 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1922:Vmn2r120
|
UTSW |
17 |
57,831,839 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2063:Vmn2r120
|
UTSW |
17 |
57,831,553 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2064:Vmn2r120
|
UTSW |
17 |
57,831,553 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2065:Vmn2r120
|
UTSW |
17 |
57,831,553 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2067:Vmn2r120
|
UTSW |
17 |
57,831,553 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2286:Vmn2r120
|
UTSW |
17 |
57,815,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2291:Vmn2r120
|
UTSW |
17 |
57,816,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3416:Vmn2r120
|
UTSW |
17 |
57,816,241 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3874:Vmn2r120
|
UTSW |
17 |
57,831,954 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4023:Vmn2r120
|
UTSW |
17 |
57,843,718 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4024:Vmn2r120
|
UTSW |
17 |
57,843,718 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4348:Vmn2r120
|
UTSW |
17 |
57,829,466 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4409:Vmn2r120
|
UTSW |
17 |
57,816,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4610:Vmn2r120
|
UTSW |
17 |
57,816,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Vmn2r120
|
UTSW |
17 |
57,831,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4786:Vmn2r120
|
UTSW |
17 |
57,829,048 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4927:Vmn2r120
|
UTSW |
17 |
57,816,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5285:Vmn2r120
|
UTSW |
17 |
57,843,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5566:Vmn2r120
|
UTSW |
17 |
57,852,290 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5578:Vmn2r120
|
UTSW |
17 |
57,829,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5643:Vmn2r120
|
UTSW |
17 |
57,831,977 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5644:Vmn2r120
|
UTSW |
17 |
57,831,977 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5781:Vmn2r120
|
UTSW |
17 |
57,831,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6084:Vmn2r120
|
UTSW |
17 |
57,832,721 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6120:Vmn2r120
|
UTSW |
17 |
57,832,973 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6160:Vmn2r120
|
UTSW |
17 |
57,816,418 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6248:Vmn2r120
|
UTSW |
17 |
57,852,287 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6256:Vmn2r120
|
UTSW |
17 |
57,831,700 (GRCm39) |
nonsense |
probably null |
|
|
R6730:Vmn2r120
|
UTSW |
17 |
57,832,012 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6821:Vmn2r120
|
UTSW |
17 |
57,843,659 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6868:Vmn2r120
|
UTSW |
17 |
57,852,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6880:Vmn2r120
|
UTSW |
17 |
57,816,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7276:Vmn2r120
|
UTSW |
17 |
57,831,881 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7373:Vmn2r120
|
UTSW |
17 |
57,816,406 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7653:Vmn2r120
|
UTSW |
17 |
57,816,258 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7667:Vmn2r120
|
UTSW |
17 |
57,843,657 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7775:Vmn2r120
|
UTSW |
17 |
57,832,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7778:Vmn2r120
|
UTSW |
17 |
57,832,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7797:Vmn2r120
|
UTSW |
17 |
57,815,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7824:Vmn2r120
|
UTSW |
17 |
57,832,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7902:Vmn2r120
|
UTSW |
17 |
57,816,244 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7922:Vmn2r120
|
UTSW |
17 |
57,831,683 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8508:Vmn2r120
|
UTSW |
17 |
57,832,843 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8847:Vmn2r120
|
UTSW |
17 |
57,816,217 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8882:Vmn2r120
|
UTSW |
17 |
57,852,229 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9134:Vmn2r120
|
UTSW |
17 |
57,832,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9161:Vmn2r120
|
UTSW |
17 |
57,831,864 (GRCm39) |
missense |
|
|
|
R9336:Vmn2r120
|
UTSW |
17 |
57,832,201 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
RF005:Vmn2r120
|
UTSW |
17 |
57,828,991 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Z1177:Vmn2r120
|
UTSW |
17 |
57,816,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1188:Vmn2r120
|
UTSW |
17 |
57,829,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAGCGGATCCCTTGTTGC -3'
(R):5'- AAGCATCATGAAACTCCGATTGTG -3'
Sequencing Primer
(F):5'- CACATGATGGTGATGTGGCCAC -3'
(R):5'- TGAAACTCCGATTGTGAAAGCC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation