Incidental Mutation 'R6166:Vmn2r70'
ID |
490142 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r70
|
Ensembl Gene |
ENSMUSG00000090806 |
Gene Name |
vomeronasal 2, receptor 70 |
Synonyms |
EG620835 |
MMRRC Submission |
044312-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.130)
|
Stock # |
R6166 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
85207911-85218296 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 85215189 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 115
(L115P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129703
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168230]
|
AlphaFold |
K7N702 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000168230
AA Change: L115P
PolyPhen 2
Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000129703 Gene: ENSMUSG00000090806 AA Change: L115P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
77 |
468 |
2.5e-28 |
PFAM |
Pfam:NCD3G
|
510 |
562 |
1.5e-19 |
PFAM |
Pfam:7tm_3
|
592 |
830 |
1.2e-52 |
PFAM |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
Validation Efficiency |
97% (57/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot2 |
A |
T |
12: 84,039,378 (GRCm39) |
N296Y |
probably damaging |
Het |
Ago2 |
T |
A |
15: 72,996,089 (GRCm39) |
I347L |
probably benign |
Het |
Aldh1l2 |
C |
T |
10: 83,329,288 (GRCm39) |
|
probably null |
Het |
Ap1ar |
A |
G |
3: 127,606,177 (GRCm39) |
|
probably null |
Het |
Arap3 |
T |
C |
18: 38,107,423 (GRCm39) |
T1365A |
probably damaging |
Het |
Arhgef17 |
A |
T |
7: 100,525,699 (GRCm39) |
H1966Q |
probably damaging |
Het |
Arpp21 |
T |
C |
9: 111,948,266 (GRCm39) |
T668A |
probably benign |
Het |
Atg13 |
G |
T |
2: 91,506,736 (GRCm39) |
Q479K |
probably damaging |
Het |
Bmp8a |
T |
C |
4: 123,218,471 (GRCm39) |
T183A |
probably benign |
Het |
Camta2 |
G |
C |
11: 70,565,087 (GRCm39) |
|
probably null |
Het |
Catspere2 |
A |
G |
1: 177,931,403 (GRCm39) |
T441A |
unknown |
Het |
Ccdc40 |
T |
C |
11: 119,122,827 (GRCm39) |
S210P |
probably benign |
Het |
Cnn2 |
A |
G |
10: 79,824,561 (GRCm39) |
E17G |
possibly damaging |
Het |
Cnot6l |
T |
C |
5: 96,227,799 (GRCm39) |
D478G |
possibly damaging |
Het |
Cplane1 |
A |
G |
15: 8,216,044 (GRCm39) |
H478R |
probably benign |
Het |
Csf2rb |
A |
G |
15: 78,228,766 (GRCm39) |
Y369C |
probably damaging |
Het |
Dll4 |
A |
G |
2: 119,165,107 (GRCm39) |
|
probably null |
Het |
Efcab6 |
A |
G |
15: 83,780,316 (GRCm39) |
V1039A |
probably benign |
Het |
Fam117a |
T |
C |
11: 95,271,607 (GRCm39) |
M393T |
possibly damaging |
Het |
Fancd2 |
T |
A |
6: 113,532,212 (GRCm39) |
N508K |
possibly damaging |
Het |
Fat1 |
T |
C |
8: 45,405,522 (GRCm39) |
S758P |
probably damaging |
Het |
Fgf20 |
T |
C |
8: 40,732,881 (GRCm39) |
K186E |
probably damaging |
Het |
Filip1 |
T |
C |
9: 79,726,736 (GRCm39) |
K628E |
probably damaging |
Het |
Fsip2 |
G |
T |
2: 82,811,071 (GRCm39) |
K2463N |
probably benign |
Het |
Gm15446 |
T |
A |
5: 110,090,646 (GRCm39) |
Y299* |
probably null |
Het |
Gm7363 |
A |
T |
7: 3,986,784 (GRCm39) |
|
noncoding transcript |
Het |
Gpx5 |
A |
T |
13: 21,473,435 (GRCm39) |
F104I |
probably damaging |
Het |
Grip1 |
A |
T |
10: 119,908,623 (GRCm39) |
I618F |
probably damaging |
Het |
Hmcn2 |
G |
A |
2: 31,259,274 (GRCm39) |
G1038D |
probably damaging |
Het |
Lgals9 |
C |
T |
11: 78,862,184 (GRCm39) |
A134T |
probably benign |
Het |
Lrba |
G |
A |
3: 86,261,614 (GRCm39) |
|
probably null |
Het |
Lypd10 |
A |
T |
7: 24,413,644 (GRCm39) |
Q220L |
probably benign |
Het |
Naprt |
T |
C |
15: 75,763,326 (GRCm39) |
Q439R |
possibly damaging |
Het |
Ndufs6 |
G |
A |
13: 73,466,060 (GRCm39) |
|
probably benign |
Het |
Nodal |
C |
A |
10: 61,260,337 (GRCm39) |
S329R |
probably damaging |
Het |
Olfm3 |
T |
A |
3: 114,916,074 (GRCm39) |
N315K |
probably damaging |
Het |
Or4k2 |
C |
T |
14: 50,424,225 (GRCm39) |
V150I |
probably benign |
Het |
Or6c3b |
A |
T |
10: 129,527,148 (GRCm39) |
I254K |
probably damaging |
Het |
Or6k2 |
A |
G |
1: 173,986,659 (GRCm39) |
T107A |
probably benign |
Het |
Plg |
T |
A |
17: 12,617,001 (GRCm39) |
V373E |
probably damaging |
Het |
Prdm2 |
A |
C |
4: 142,861,306 (GRCm39) |
S661R |
probably damaging |
Het |
Psg21 |
A |
T |
7: 18,390,664 (GRCm39) |
|
probably benign |
Het |
Rhobtb2 |
T |
C |
14: 70,035,627 (GRCm39) |
D148G |
probably damaging |
Het |
Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Scaf11 |
A |
T |
15: 96,322,543 (GRCm39) |
N116K |
probably damaging |
Het |
Sf3a3 |
T |
C |
4: 124,617,177 (GRCm39) |
|
probably benign |
Homo |
Slc38a9 |
T |
G |
13: 112,831,801 (GRCm39) |
Y184D |
possibly damaging |
Het |
Sowahc |
A |
G |
10: 59,058,182 (GRCm39) |
D106G |
probably benign |
Het |
Srbd1 |
T |
C |
17: 86,406,696 (GRCm39) |
Y563C |
probably damaging |
Het |
Src |
A |
G |
2: 157,310,442 (GRCm39) |
Y359C |
probably damaging |
Het |
Tbc1d9b |
A |
G |
11: 50,026,673 (GRCm39) |
D47G |
probably damaging |
Het |
Tctn3 |
T |
C |
19: 40,585,923 (GRCm39) |
K541E |
possibly damaging |
Het |
Tgm7 |
A |
G |
2: 120,929,539 (GRCm39) |
V245A |
probably damaging |
Het |
Thbs2 |
C |
T |
17: 14,900,650 (GRCm39) |
R519H |
probably damaging |
Het |
Tm4sf19 |
T |
C |
16: 32,226,681 (GRCm39) |
S157P |
probably damaging |
Het |
Trio |
C |
T |
15: 27,818,157 (GRCm39) |
S507N |
probably damaging |
Het |
Trrap |
T |
A |
5: 144,718,791 (GRCm39) |
H152Q |
possibly damaging |
Het |
Vmn2r56 |
A |
G |
7: 12,427,947 (GRCm39) |
L773P |
probably damaging |
Het |
Wdr59 |
C |
T |
8: 112,199,293 (GRCm39) |
R631H |
probably damaging |
Het |
|
Other mutations in Vmn2r70 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00978:Vmn2r70
|
APN |
7 |
85,213,007 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01140:Vmn2r70
|
APN |
7 |
85,214,379 (GRCm39) |
nonsense |
probably null |
|
IGL01287:Vmn2r70
|
APN |
7 |
85,218,227 (GRCm39) |
nonsense |
probably null |
|
IGL01581:Vmn2r70
|
APN |
7 |
85,213,122 (GRCm39) |
splice site |
probably null |
|
IGL01632:Vmn2r70
|
APN |
7 |
85,215,280 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01725:Vmn2r70
|
APN |
7 |
85,208,594 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02244:Vmn2r70
|
APN |
7 |
85,214,211 (GRCm39) |
missense |
probably benign |
|
IGL02288:Vmn2r70
|
APN |
7 |
85,214,342 (GRCm39) |
missense |
probably benign |
0.31 |
IGL02313:Vmn2r70
|
APN |
7 |
85,214,376 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02591:Vmn2r70
|
APN |
7 |
85,214,153 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02725:Vmn2r70
|
APN |
7 |
85,214,553 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL02797:Vmn2r70
|
APN |
7 |
85,208,295 (GRCm39) |
missense |
probably benign |
0.00 |
R0045:Vmn2r70
|
UTSW |
7 |
85,215,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R0729:Vmn2r70
|
UTSW |
7 |
85,215,112 (GRCm39) |
missense |
probably benign |
0.00 |
R0967:Vmn2r70
|
UTSW |
7 |
85,208,827 (GRCm39) |
missense |
probably damaging |
0.99 |
R1217:Vmn2r70
|
UTSW |
7 |
85,208,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R1351:Vmn2r70
|
UTSW |
7 |
85,214,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R1387:Vmn2r70
|
UTSW |
7 |
85,207,969 (GRCm39) |
missense |
probably benign |
0.12 |
R1483:Vmn2r70
|
UTSW |
7 |
85,208,375 (GRCm39) |
missense |
probably benign |
0.04 |
R1796:Vmn2r70
|
UTSW |
7 |
85,213,011 (GRCm39) |
nonsense |
probably null |
|
R1809:Vmn2r70
|
UTSW |
7 |
85,215,130 (GRCm39) |
missense |
probably benign |
0.23 |
R2154:Vmn2r70
|
UTSW |
7 |
85,212,923 (GRCm39) |
missense |
possibly damaging |
0.67 |
R2173:Vmn2r70
|
UTSW |
7 |
85,214,290 (GRCm39) |
missense |
probably benign |
|
R2334:Vmn2r70
|
UTSW |
7 |
85,208,800 (GRCm39) |
missense |
probably benign |
0.05 |
R2871:Vmn2r70
|
UTSW |
7 |
85,208,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R2871:Vmn2r70
|
UTSW |
7 |
85,208,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R3975:Vmn2r70
|
UTSW |
7 |
85,208,540 (GRCm39) |
missense |
probably benign |
0.00 |
R4525:Vmn2r70
|
UTSW |
7 |
85,208,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R4527:Vmn2r70
|
UTSW |
7 |
85,208,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R4535:Vmn2r70
|
UTSW |
7 |
85,214,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R5181:Vmn2r70
|
UTSW |
7 |
85,208,387 (GRCm39) |
missense |
probably damaging |
0.99 |
R5600:Vmn2r70
|
UTSW |
7 |
85,212,935 (GRCm39) |
missense |
probably benign |
0.07 |
R5641:Vmn2r70
|
UTSW |
7 |
85,208,572 (GRCm39) |
missense |
probably damaging |
0.99 |
R5726:Vmn2r70
|
UTSW |
7 |
85,208,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R5943:Vmn2r70
|
UTSW |
7 |
85,215,199 (GRCm39) |
missense |
probably benign |
0.09 |
R6272:Vmn2r70
|
UTSW |
7 |
85,208,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R6324:Vmn2r70
|
UTSW |
7 |
85,208,087 (GRCm39) |
missense |
probably benign |
0.01 |
R6429:Vmn2r70
|
UTSW |
7 |
85,208,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R6449:Vmn2r70
|
UTSW |
7 |
85,214,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R6512:Vmn2r70
|
UTSW |
7 |
85,215,305 (GRCm39) |
missense |
probably benign |
|
R7000:Vmn2r70
|
UTSW |
7 |
85,208,819 (GRCm39) |
missense |
probably damaging |
0.99 |
R7141:Vmn2r70
|
UTSW |
7 |
85,208,044 (GRCm39) |
missense |
probably benign |
|
R7153:Vmn2r70
|
UTSW |
7 |
85,214,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R7424:Vmn2r70
|
UTSW |
7 |
85,213,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R7565:Vmn2r70
|
UTSW |
7 |
85,214,499 (GRCm39) |
missense |
probably benign |
0.35 |
R7567:Vmn2r70
|
UTSW |
7 |
85,214,243 (GRCm39) |
missense |
probably benign |
0.41 |
R7593:Vmn2r70
|
UTSW |
7 |
85,215,312 (GRCm39) |
nonsense |
probably null |
|
R7660:Vmn2r70
|
UTSW |
7 |
85,218,130 (GRCm39) |
missense |
probably damaging |
0.99 |
R7806:Vmn2r70
|
UTSW |
7 |
85,208,401 (GRCm39) |
missense |
probably benign |
|
R7892:Vmn2r70
|
UTSW |
7 |
85,208,588 (GRCm39) |
missense |
possibly damaging |
0.58 |
R7965:Vmn2r70
|
UTSW |
7 |
85,211,071 (GRCm39) |
missense |
probably damaging |
0.96 |
R8052:Vmn2r70
|
UTSW |
7 |
85,212,923 (GRCm39) |
missense |
probably benign |
|
R8251:Vmn2r70
|
UTSW |
7 |
85,215,186 (GRCm39) |
nonsense |
probably null |
|
R8814:Vmn2r70
|
UTSW |
7 |
85,215,169 (GRCm39) |
missense |
probably benign |
0.00 |
R8934:Vmn2r70
|
UTSW |
7 |
85,211,188 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9225:Vmn2r70
|
UTSW |
7 |
85,208,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R9322:Vmn2r70
|
UTSW |
7 |
85,208,498 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9430:Vmn2r70
|
UTSW |
7 |
85,215,240 (GRCm39) |
missense |
probably benign |
0.10 |
R9477:Vmn2r70
|
UTSW |
7 |
85,218,244 (GRCm39) |
missense |
possibly damaging |
0.50 |
Z1088:Vmn2r70
|
UTSW |
7 |
85,213,968 (GRCm39) |
missense |
possibly damaging |
0.53 |
Z1176:Vmn2r70
|
UTSW |
7 |
85,218,253 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CACAATACTGCTGTCTCCCA -3'
(R):5'- TGCTTGTACAGGCGTAGGAAT -3'
Sequencing Primer
(F):5'- TTCAAAAAGTCTCACTGTGGTG -3'
(R):5'- TGTACAGGCGTAGGAATTATATTTTC -3'
|
Posted On |
2017-10-10 |