Incidental Mutation 'R7373:Vmn2r120'
| ID |
572249 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r120
|
| Ensembl Gene |
ENSMUSG00000090655 |
| Gene Name |
vomeronasal 2, receptor 120 |
| Synonyms |
EG224916 |
| MMRRC Submission |
045456-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R7373 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
57815783-57852314 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 57816406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 650
(L650I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165781]
|
| AlphaFold |
A0A3Q4EG79 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165781
AA Change: L650I
PolyPhen 2
Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000129296
Gene: ENSMUSG00000090655
AA Change: L650I
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (57/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
G |
A |
11: 50,686,262 (GRCm39) |
A1027T |
probably benign |
Het |
| Aldh7a1 |
G |
A |
18: 56,675,389 (GRCm39) |
T260M |
possibly damaging |
Het |
| Anks3 |
T |
C |
16: 4,773,735 (GRCm39) |
Y187C |
probably benign |
Het |
| Atp2c2 |
A |
T |
8: 120,456,991 (GRCm39) |
I198F |
probably benign |
Het |
| Bsn |
T |
C |
9: 107,990,683 (GRCm39) |
T1690A |
probably damaging |
Het |
| Catsper3 |
T |
C |
13: 55,955,945 (GRCm39) |
I350T |
possibly damaging |
Het |
| Cdcp1 |
C |
T |
9: 123,006,965 (GRCm39) |
R594H |
probably damaging |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Cldn1 |
G |
T |
16: 26,179,606 (GRCm39) |
P154T |
probably damaging |
Het |
| Cntnap5a |
A |
T |
1: 116,508,367 (GRCm39) |
N1293I |
probably benign |
Het |
| Cpsf4l |
C |
T |
11: 113,590,657 (GRCm39) |
|
probably null |
Het |
| Crybg1 |
T |
C |
10: 43,880,136 (GRCm39) |
T351A |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,042,713 (GRCm39) |
N2340S |
probably damaging |
Het |
| Dennd4a |
C |
A |
9: 64,804,551 (GRCm39) |
Q1297K |
probably benign |
Het |
| Dll3 |
A |
G |
7: 27,994,057 (GRCm39) |
V460A |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,986,939 (GRCm39) |
|
probably null |
Het |
| Dst |
G |
T |
1: 34,227,472 (GRCm39) |
L1688F |
probably benign |
Het |
| Ehmt1 |
A |
G |
2: 24,809,585 (GRCm39) |
M1T |
probably null |
Het |
| Fasn |
A |
T |
11: 120,704,802 (GRCm39) |
L1261Q |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,479,702 (GRCm39) |
D2916G |
probably damaging |
Het |
| Fgfr3 |
C |
A |
5: 33,885,034 (GRCm39) |
F49L |
probably benign |
Het |
| Hlx |
T |
C |
1: 184,463,062 (GRCm39) |
T197A |
probably benign |
Het |
| Hormad1 |
A |
T |
3: 95,483,628 (GRCm39) |
T147S |
probably damaging |
Het |
| Igf1r |
T |
A |
7: 67,844,826 (GRCm39) |
Y866* |
probably null |
Het |
| Itgb8 |
A |
G |
12: 119,166,210 (GRCm39) |
V107A |
probably benign |
Het |
| Kat2a |
C |
T |
11: 100,599,392 (GRCm39) |
A533T |
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,913,071 (GRCm39) |
L328P |
probably damaging |
Het |
| Lims1 |
T |
C |
10: 58,245,442 (GRCm39) |
F157S |
probably damaging |
Het |
| Lrp2 |
G |
T |
2: 69,331,036 (GRCm39) |
H1673Q |
probably damaging |
Het |
| Lrrc46 |
C |
A |
11: 96,929,706 (GRCm39) |
M43I |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,584,207 (GRCm39) |
|
probably null |
Het |
| Meox2 |
A |
T |
12: 37,158,797 (GRCm39) |
|
probably benign |
Het |
| Mff |
A |
G |
1: 82,714,838 (GRCm39) |
|
probably null |
Het |
| Mfsd5 |
T |
A |
15: 102,189,427 (GRCm39) |
F266L |
probably damaging |
Het |
| Miga2 |
A |
G |
2: 30,272,083 (GRCm39) |
T468A |
probably damaging |
Het |
| Mmel1 |
T |
A |
4: 154,973,665 (GRCm39) |
L316Q |
not run |
Het |
| Ndufa9 |
C |
A |
6: 126,811,421 (GRCm39) |
G232C |
probably damaging |
Het |
| Obox2 |
A |
T |
7: 15,131,145 (GRCm39) |
K84* |
probably null |
Het |
| Or4f58 |
T |
A |
2: 111,851,787 (GRCm39) |
R137S |
probably benign |
Het |
| Or51a39 |
T |
A |
7: 102,363,306 (GRCm39) |
I105F |
possibly damaging |
Het |
| Otogl |
G |
T |
10: 107,737,112 (GRCm39) |
Q101K |
probably damaging |
Het |
| Pcnx2 |
C |
T |
8: 126,534,766 (GRCm39) |
V1288M |
probably damaging |
Het |
| Pde10a |
T |
A |
17: 9,161,824 (GRCm39) |
W220R |
probably benign |
Het |
| Recql5 |
T |
C |
11: 115,819,198 (GRCm39) |
T123A |
possibly damaging |
Het |
| Rpl28 |
T |
C |
7: 4,796,602 (GRCm39) |
V61A |
probably benign |
Het |
| Secisbp2l |
A |
T |
2: 125,599,191 (GRCm39) |
M494K |
probably damaging |
Het |
| Sh3bgr |
G |
A |
16: 96,007,035 (GRCm39) |
E2K |
unknown |
Het |
| Shcbp1l |
C |
A |
1: 153,300,986 (GRCm39) |
T6K |
probably benign |
Het |
| Slc22a15 |
A |
C |
3: 101,785,213 (GRCm39) |
L353R |
possibly damaging |
Het |
| Sqle |
T |
C |
15: 59,189,658 (GRCm39) |
I100T |
probably benign |
Het |
| Tas2r106 |
A |
T |
6: 131,655,317 (GRCm39) |
L178H |
probably damaging |
Het |
| Tll1 |
A |
T |
8: 64,504,391 (GRCm39) |
N668K |
probably damaging |
Het |
| Tm7sf2 |
A |
G |
19: 6,116,676 (GRCm39) |
S118P |
probably benign |
Het |
| Tmco5 |
G |
T |
2: 116,717,226 (GRCm39) |
V169L |
probably benign |
Het |
| Trpv1 |
A |
G |
11: 73,131,499 (GRCm39) |
K346E |
probably damaging |
Het |
| Ttk |
G |
A |
9: 83,736,930 (GRCm39) |
R463H |
probably benign |
Het |
| Vmn2r58 |
C |
T |
7: 41,487,212 (GRCm39) |
C561Y |
probably damaging |
Het |
| Vmn2r-ps117 |
A |
T |
17: 19,044,948 (GRCm39) |
Q455L |
probably benign |
Het |
| Zfr |
T |
A |
15: 12,140,645 (GRCm39) |
S231T |
unknown |
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 |
|
R6986:Vmn2r120
|
UTSW |
17 |
57,816,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7276:Vmn2r120
|
UTSW |
17 |
57,831,881 (GRCm39) |
missense |
probably benign |
0.11 |
|
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'- GATTGCACAAAGAACCATTTGG -3'
(R):5'- TGGCCTATGAAGATCCCTTGG -3'
Sequencing Primer
(F):5'- CCATTTGGATAAGGGTACATATGGG -3'
(R):5'- CCTTGGGGATGGCTCTGGC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation