Incidental Mutation 'R1543:Vmn2r120'
ID |
171958 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r120
|
Ensembl Gene |
ENSMUSG00000090655 |
Gene Name |
vomeronasal 2, receptor 120 |
Synonyms |
EG224916 |
MMRRC Submission |
039582-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R1543 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
57815783-57852314 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 57829374 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 508
(E508K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129296
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165781]
|
AlphaFold |
A0A3Q4EG79 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000165781
AA Change: E508K
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000129296 Gene: ENSMUSG00000090655 AA Change: E508K
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: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.2%
|
Validation Efficiency |
95% (77/81) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009J06Rik |
G |
A |
6: 40,945,138 (GRCm39) |
V206I |
probably damaging |
Het |
Abca8b |
A |
C |
11: 109,865,500 (GRCm39) |
M319R |
probably damaging |
Het |
Abcc6 |
T |
C |
7: 45,665,928 (GRCm39) |
R231G |
probably benign |
Het |
Acadm |
A |
G |
3: 153,635,209 (GRCm39) |
Y302H |
probably damaging |
Het |
Acox3 |
C |
A |
5: 35,760,352 (GRCm39) |
R423S |
probably damaging |
Het |
Adam7 |
T |
A |
14: 68,759,371 (GRCm39) |
|
probably benign |
Het |
Adgrb3 |
A |
C |
1: 25,527,169 (GRCm39) |
M589R |
probably benign |
Het |
Adgrl2 |
A |
C |
3: 148,564,909 (GRCm39) |
F224V |
probably damaging |
Het |
Adm2 |
G |
C |
15: 89,208,282 (GRCm39) |
G74A |
probably damaging |
Het |
Aen |
T |
A |
7: 78,552,370 (GRCm39) |
V15E |
probably damaging |
Het |
Ankzf1 |
T |
A |
1: 75,169,160 (GRCm39) |
V22D |
possibly damaging |
Het |
Arap2 |
T |
A |
5: 62,763,498 (GRCm39) |
K1549* |
probably null |
Het |
Arhgef11 |
G |
A |
3: 87,620,324 (GRCm39) |
R430H |
probably benign |
Het |
Asb17 |
T |
G |
3: 153,550,148 (GRCm39) |
L60W |
probably damaging |
Het |
BC035044 |
T |
C |
6: 128,867,948 (GRCm39) |
|
probably benign |
Het |
Bltp2 |
A |
G |
11: 78,166,000 (GRCm39) |
T1422A |
probably benign |
Het |
Cacna2d1 |
A |
T |
5: 16,471,716 (GRCm39) |
M254L |
possibly damaging |
Het |
Celf6 |
T |
C |
9: 59,511,160 (GRCm39) |
|
probably benign |
Het |
Cemip2 |
G |
T |
19: 21,789,937 (GRCm39) |
A668S |
probably benign |
Het |
Coro2b |
C |
T |
9: 62,333,123 (GRCm39) |
V120I |
probably benign |
Het |
Cyp20a1 |
C |
A |
1: 60,415,353 (GRCm39) |
|
probably benign |
Het |
Cyp2c67 |
C |
A |
19: 39,631,708 (GRCm39) |
|
probably benign |
Het |
Dclk3 |
A |
G |
9: 111,297,122 (GRCm39) |
H222R |
probably benign |
Het |
Deaf1 |
A |
G |
7: 140,904,060 (GRCm39) |
S109P |
possibly damaging |
Het |
Dlg5 |
T |
A |
14: 24,194,516 (GRCm39) |
D1675V |
probably damaging |
Het |
Dsg2 |
T |
A |
18: 20,727,268 (GRCm39) |
V605E |
probably benign |
Het |
Dync2i1 |
T |
C |
12: 116,195,404 (GRCm39) |
|
probably benign |
Het |
Frem2 |
A |
T |
3: 53,479,876 (GRCm39) |
I1939N |
possibly damaging |
Het |
Fsip2 |
A |
T |
2: 82,811,931 (GRCm39) |
Y2750F |
possibly damaging |
Het |
Gpr39 |
T |
A |
1: 125,800,161 (GRCm39) |
I304N |
probably damaging |
Het |
Hdac7 |
G |
A |
15: 97,707,410 (GRCm39) |
|
probably benign |
Het |
Hipk1 |
T |
C |
3: 103,685,480 (GRCm39) |
H45R |
probably benign |
Het |
Hyal2 |
T |
C |
9: 107,447,386 (GRCm39) |
L13P |
probably damaging |
Het |
Kdm1b |
C |
T |
13: 47,221,997 (GRCm39) |
R479W |
probably damaging |
Het |
Lilrb4b |
A |
G |
10: 51,357,517 (GRCm39) |
T118A |
probably damaging |
Het |
Lin7a |
C |
A |
10: 107,247,930 (GRCm39) |
F78L |
possibly damaging |
Het |
Lpin3 |
A |
G |
2: 160,737,310 (GRCm39) |
D119G |
possibly damaging |
Het |
Lrp2 |
G |
A |
2: 69,331,074 (GRCm39) |
R1661C |
probably damaging |
Het |
Lrrc45 |
A |
G |
11: 120,610,844 (GRCm39) |
K527E |
probably benign |
Het |
Map10 |
C |
T |
8: 126,397,611 (GRCm39) |
P335S |
probably benign |
Het |
Mast3 |
A |
G |
8: 71,244,955 (GRCm39) |
S2P |
possibly damaging |
Het |
Mbtps1 |
A |
G |
8: 120,268,808 (GRCm39) |
|
probably benign |
Het |
Mms22l |
T |
A |
4: 24,591,084 (GRCm39) |
N1018K |
probably benign |
Het |
Nckipsd |
C |
A |
9: 108,689,571 (GRCm39) |
A244D |
possibly damaging |
Het |
Nt5el |
A |
T |
13: 105,248,877 (GRCm39) |
R364* |
probably null |
Het |
Or12k5 |
C |
A |
2: 36,895,139 (GRCm39) |
L162F |
probably damaging |
Het |
Or1j1 |
A |
T |
2: 36,703,069 (GRCm39) |
F12I |
probably damaging |
Het |
Or4k44 |
A |
G |
2: 111,368,142 (GRCm39) |
V164A |
probably benign |
Het |
Or52j3 |
T |
A |
7: 102,836,421 (GRCm39) |
F204L |
probably benign |
Het |
Or8b12c |
T |
A |
9: 37,715,243 (GRCm39) |
I12N |
possibly damaging |
Het |
Pcx |
A |
T |
19: 4,652,251 (GRCm39) |
D112V |
probably damaging |
Het |
Phf14 |
G |
A |
6: 11,987,682 (GRCm39) |
|
probably null |
Het |
Pkd1l1 |
A |
G |
11: 8,851,200 (GRCm39) |
I744T |
probably damaging |
Het |
Ppip5k2 |
A |
G |
1: 97,668,607 (GRCm39) |
L560P |
probably damaging |
Het |
Psmd14 |
A |
T |
2: 61,615,874 (GRCm39) |
M248L |
probably benign |
Het |
Ryr1 |
T |
G |
7: 28,782,962 (GRCm39) |
E1884A |
possibly damaging |
Het |
Scn4b |
T |
A |
9: 45,061,727 (GRCm39) |
S204R |
probably damaging |
Het |
Slc12a1 |
A |
T |
2: 125,026,777 (GRCm39) |
M471L |
possibly damaging |
Het |
Slc17a5 |
A |
G |
9: 78,468,082 (GRCm39) |
V236A |
probably benign |
Het |
Sobp |
T |
C |
10: 42,897,720 (GRCm39) |
T622A |
probably damaging |
Het |
Spata31d1a |
G |
T |
13: 59,850,056 (GRCm39) |
R691S |
probably benign |
Het |
Speg |
A |
G |
1: 75,398,595 (GRCm39) |
E2014G |
probably damaging |
Het |
Steap4 |
A |
G |
5: 8,025,902 (GRCm39) |
|
probably benign |
Het |
Tas2r144 |
G |
A |
6: 42,192,537 (GRCm39) |
M92I |
probably benign |
Het |
Tbc1d5 |
T |
C |
17: 51,242,560 (GRCm39) |
Q179R |
probably benign |
Het |
Tcf25 |
T |
C |
8: 124,115,326 (GRCm39) |
Y188H |
probably benign |
Het |
Tmem200a |
G |
A |
10: 25,954,518 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Tssk5 |
T |
C |
15: 76,256,409 (GRCm39) |
T337A |
probably benign |
Het |
Ttc23 |
T |
C |
7: 67,328,743 (GRCm39) |
V228A |
probably benign |
Het |
Tulp1 |
A |
T |
17: 28,581,645 (GRCm39) |
|
probably benign |
Het |
Uqcc3 |
A |
G |
19: 8,858,117 (GRCm39) |
F25L |
probably damaging |
Het |
Vmn2r1 |
G |
A |
3: 63,996,994 (GRCm39) |
G217S |
probably damaging |
Het |
Wdfy3 |
C |
A |
5: 101,991,947 (GRCm39) |
V3451L |
probably benign |
Het |
Wdr19 |
G |
A |
5: 65,382,033 (GRCm39) |
V418I |
probably benign |
Het |
Xirp2 |
C |
T |
2: 67,338,383 (GRCm39) |
T208I |
probably benign |
Het |
Xpnpep1 |
A |
G |
19: 52,980,107 (GRCm39) |
V639A |
probably benign |
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 |
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 |
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'- GCACAGCTTGTACTGCACACAGAC -3'
(R):5'- AATCGTGGAACCCTTGCTACTGC -3'
Sequencing Primer
(F):5'- TACTGCACACAGACAGGGG -3'
(R):5'- ATGCCAATATTAGATCCTGACTCTC -3'
|
Posted On |
2014-04-13 |