Incidental Mutation 'R6880:Vmn2r120'
ID |
536638 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r120
|
Ensembl Gene |
ENSMUSG00000090655 |
Gene Name |
vomeronasal 2, receptor 120 |
Synonyms |
EG224916 |
MMRRC Submission |
044976-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R6880 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
57815783-57852314 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 57816187 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 723
(S723T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129296
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165781]
|
AlphaFold |
A0A3Q4EG79 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165781
AA Change: S723T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000129296 Gene: ENSMUSG00000090655 AA Change: S723T
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: 99.4%
- 20x: 98.1%
|
Validation Efficiency |
97% (62/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad9 |
T |
A |
3: 36,123,854 (GRCm39) |
|
probably null |
Het |
Aff3 |
T |
C |
1: 38,574,243 (GRCm39) |
H206R |
probably damaging |
Het |
Aff3 |
T |
C |
1: 38,666,209 (GRCm39) |
D5G |
possibly damaging |
Het |
Alg5 |
A |
G |
3: 54,646,264 (GRCm39) |
E43G |
probably damaging |
Het |
Ankrd36 |
T |
C |
11: 5,578,748 (GRCm39) |
L4P |
probably damaging |
Het |
Ano1 |
T |
C |
7: 144,198,479 (GRCm39) |
Y345C |
probably benign |
Het |
Atf7ip |
A |
G |
6: 136,538,038 (GRCm39) |
I432V |
probably damaging |
Het |
B230307C23Rik |
T |
C |
16: 97,798,627 (GRCm39) |
|
probably benign |
Het |
Baz2b |
T |
A |
2: 59,743,283 (GRCm39) |
N1563Y |
probably damaging |
Het |
Bhlha15 |
A |
T |
5: 144,128,451 (GRCm39) |
T188S |
probably damaging |
Het |
Cbr3 |
T |
C |
16: 93,487,426 (GRCm39) |
V203A |
probably benign |
Het |
Cpsf1 |
T |
C |
15: 76,486,739 (GRCm39) |
T266A |
probably benign |
Het |
Dnah7c |
T |
C |
1: 46,566,831 (GRCm39) |
Y681H |
probably damaging |
Het |
Dock2 |
C |
T |
11: 34,579,279 (GRCm39) |
|
probably null |
Het |
Dsc1 |
T |
A |
18: 20,221,429 (GRCm39) |
D682V |
probably damaging |
Het |
Fkbp15 |
A |
T |
4: 62,254,732 (GRCm39) |
I256N |
possibly damaging |
Het |
Foxd1 |
A |
C |
13: 98,491,225 (GRCm39) |
D33A |
unknown |
Het |
Gid4 |
T |
A |
11: 60,327,261 (GRCm39) |
F149I |
probably damaging |
Het |
Hmcn2 |
G |
T |
2: 31,233,068 (GRCm39) |
V206L |
probably damaging |
Het |
Ighg2b |
T |
C |
12: 113,270,726 (GRCm39) |
I135V |
|
Het |
Ighv1-24 |
T |
C |
12: 114,736,663 (GRCm39) |
Y79C |
possibly damaging |
Het |
Impg1 |
T |
A |
9: 80,312,082 (GRCm39) |
D167V |
probably damaging |
Het |
Jakmip1 |
T |
C |
5: 37,262,967 (GRCm39) |
S372P |
possibly damaging |
Het |
Kcnb1 |
T |
C |
2: 166,947,727 (GRCm39) |
T374A |
probably damaging |
Het |
Lrrn4 |
A |
G |
2: 132,714,032 (GRCm39) |
S305P |
probably damaging |
Het |
Ltbp1 |
C |
T |
17: 75,628,044 (GRCm39) |
T1179I |
possibly damaging |
Het |
Mab21l2 |
A |
G |
3: 86,454,463 (GRCm39) |
I179T |
possibly damaging |
Het |
Myo5b |
A |
T |
18: 74,855,501 (GRCm39) |
H1230L |
probably benign |
Het |
Myocos |
T |
C |
1: 162,484,602 (GRCm39) |
|
probably null |
Het |
Nipa2 |
T |
C |
7: 55,582,999 (GRCm39) |
T249A |
probably damaging |
Het |
Oas1a |
C |
A |
5: 121,040,003 (GRCm39) |
R196L |
probably damaging |
Het |
Or2ag18 |
A |
T |
7: 106,405,019 (GRCm39) |
S217T |
probably damaging |
Het |
Or5an11 |
A |
G |
19: 12,245,974 (GRCm39) |
I127V |
probably benign |
Het |
Or8k41 |
A |
G |
2: 86,314,069 (GRCm39) |
F6L |
probably benign |
Het |
Phxr2 |
G |
A |
10: 98,961,946 (GRCm39) |
|
probably benign |
Het |
Pigq |
A |
G |
17: 26,153,802 (GRCm39) |
L85P |
probably damaging |
Het |
Pla2g4a |
T |
A |
1: 149,727,202 (GRCm39) |
D518V |
possibly damaging |
Het |
Pm20d1 |
A |
G |
1: 131,731,839 (GRCm39) |
K294E |
probably benign |
Het |
Polr3d |
C |
A |
14: 70,677,455 (GRCm39) |
R307L |
probably benign |
Het |
Pou5f2 |
T |
C |
13: 78,173,613 (GRCm39) |
L185P |
possibly damaging |
Het |
Prex2 |
A |
T |
1: 11,202,608 (GRCm39) |
N506Y |
probably damaging |
Het |
Proser1 |
T |
A |
3: 53,385,260 (GRCm39) |
S381T |
probably benign |
Het |
Prpf4b |
T |
C |
13: 35,078,436 (GRCm39) |
V682A |
possibly damaging |
Het |
Prr14l |
A |
T |
5: 32,988,211 (GRCm39) |
L428Q |
probably benign |
Het |
Prss23 |
A |
G |
7: 89,160,033 (GRCm39) |
V12A |
probably benign |
Het |
Qki |
T |
C |
17: 10,434,376 (GRCm39) |
D321G |
probably benign |
Het |
Rab11fip5 |
A |
G |
6: 85,325,827 (GRCm39) |
L193P |
probably damaging |
Het |
Retreg1 |
T |
G |
15: 25,971,825 (GRCm39) |
L245R |
probably damaging |
Het |
Rfc1 |
T |
C |
5: 65,434,729 (GRCm39) |
N679S |
probably benign |
Het |
Rpl4 |
C |
T |
9: 64,084,335 (GRCm39) |
A220V |
probably damaging |
Het |
Rxra |
G |
A |
2: 27,638,668 (GRCm39) |
E224K |
possibly damaging |
Het |
Slc26a7 |
A |
G |
4: 14,516,159 (GRCm39) |
C557R |
possibly damaging |
Het |
Sncaip |
A |
G |
18: 53,002,136 (GRCm39) |
K219R |
probably damaging |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Sphkap |
A |
G |
1: 83,234,978 (GRCm39) |
V1616A |
probably damaging |
Het |
Sulf1 |
T |
C |
1: 12,912,979 (GRCm39) |
C738R |
probably damaging |
Het |
Suz12 |
T |
A |
11: 79,892,998 (GRCm39) |
C38* |
probably null |
Het |
Ttn |
T |
C |
2: 76,550,842 (GRCm39) |
T23190A |
probably damaging |
Het |
Twnk |
A |
G |
19: 44,995,855 (GRCm39) |
D96G |
probably benign |
Het |
Vcan |
T |
A |
13: 89,860,500 (GRCm39) |
N289I |
probably damaging |
Het |
Vmn2r97 |
A |
T |
17: 19,134,770 (GRCm39) |
I63F |
probably benign |
Het |
Washc5 |
T |
C |
15: 59,222,021 (GRCm39) |
N125S |
probably benign |
Het |
Zfp865 |
A |
G |
7: 5,033,548 (GRCm39) |
Y511C |
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 |
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 |
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'- ACCAGCATGCTAAATGTCAGG -3'
(R):5'- ACTTGCATTCTACAGCAGATGTC -3'
Sequencing Primer
(F):5'- CCAGCATGCTAAATGTCAGGAACTTG -3'
(R):5'- GCATTCTACAGCAGATGTCATTTGG -3'
|
Posted On |
2018-10-18 |