Incidental Mutation 'R1633:Vmn2r79'
ID |
172918 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r79
|
Ensembl Gene |
ENSMUSG00000090362 |
Gene Name |
vomeronasal 2, receptor 79 |
Synonyms |
EG621430 |
MMRRC Submission |
039670-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R1633 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
86645673-86687176 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 86687042 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 808
(C808R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132478
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164462]
|
AlphaFold |
E9Q067 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164462
AA Change: C808R
PolyPhen 2
Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000132478 Gene: ENSMUSG00000090362 AA Change: C808R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
75 |
464 |
1.9e-31 |
PFAM |
Pfam:NCD3G
|
506 |
559 |
3.1e-21 |
PFAM |
Pfam:7tm_3
|
592 |
827 |
2.8e-53 |
PFAM |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 93.9%
- 20x: 83.9%
|
Validation Efficiency |
94% (68/72) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acmsd |
C |
T |
1: 127,681,592 (GRCm39) |
A185V |
probably benign |
Het |
Acsl6 |
T |
C |
11: 54,219,224 (GRCm39) |
|
probably benign |
Het |
Arel1 |
A |
G |
12: 84,973,057 (GRCm39) |
F580S |
probably damaging |
Het |
Arhgef19 |
T |
C |
4: 140,965,871 (GRCm39) |
|
probably benign |
Het |
Bpifb3 |
T |
A |
2: 153,764,504 (GRCm39) |
L132Q |
probably damaging |
Het |
Cacna2d1 |
T |
A |
5: 16,525,114 (GRCm39) |
D516E |
probably damaging |
Het |
Ccar1 |
T |
C |
10: 62,586,793 (GRCm39) |
R882G |
unknown |
Het |
Cep162 |
T |
C |
9: 87,085,736 (GRCm39) |
E1196G |
probably benign |
Het |
Cpt1b |
T |
C |
15: 89,303,018 (GRCm39) |
T649A |
probably damaging |
Het |
Cttnbp2 |
A |
T |
6: 18,435,166 (GRCm39) |
S231T |
probably damaging |
Het |
Dock8 |
A |
G |
19: 25,028,927 (GRCm39) |
T44A |
probably benign |
Het |
Edrf1 |
T |
C |
7: 133,253,869 (GRCm39) |
S536P |
probably damaging |
Het |
Eif5 |
T |
A |
12: 111,506,721 (GRCm39) |
N104K |
probably damaging |
Het |
Enpp3 |
T |
C |
10: 24,671,680 (GRCm39) |
Y438C |
probably damaging |
Het |
Ess2 |
A |
G |
16: 17,727,831 (GRCm39) |
V116A |
probably benign |
Het |
Galnt4 |
T |
C |
10: 98,945,814 (GRCm39) |
V513A |
possibly damaging |
Het |
Gdpd5 |
T |
C |
7: 99,097,720 (GRCm39) |
I172T |
probably benign |
Het |
Ggt7 |
C |
T |
2: 155,344,608 (GRCm39) |
G245D |
probably damaging |
Het |
Gm5884 |
A |
T |
6: 128,623,028 (GRCm39) |
|
noncoding transcript |
Het |
Herc2 |
G |
A |
7: 55,879,117 (GRCm39) |
G4669R |
probably null |
Het |
Hydin |
T |
A |
8: 111,233,614 (GRCm39) |
D1817E |
probably benign |
Het |
Igf2r |
A |
C |
17: 12,945,196 (GRCm39) |
N359K |
probably benign |
Het |
Itgb4 |
T |
C |
11: 115,898,586 (GRCm39) |
F1722L |
probably damaging |
Het |
Itih3 |
T |
A |
14: 30,639,355 (GRCm39) |
E406V |
possibly damaging |
Het |
Lamc2 |
A |
T |
1: 153,017,444 (GRCm39) |
C514* |
probably null |
Het |
Mepe |
G |
T |
5: 104,485,540 (GRCm39) |
V227F |
probably benign |
Het |
Nadk |
C |
T |
4: 155,661,642 (GRCm39) |
T56I |
probably damaging |
Het |
Nedd4 |
G |
A |
9: 72,578,539 (GRCm39) |
V84I |
possibly damaging |
Het |
Nipal3 |
C |
A |
4: 135,174,659 (GRCm39) |
R364L |
probably benign |
Het |
Nkx2-9 |
T |
C |
12: 56,659,766 (GRCm39) |
R27G |
probably benign |
Het |
Noc2l |
T |
A |
4: 156,329,750 (GRCm39) |
S600T |
probably benign |
Het |
Or1l4b |
T |
A |
2: 37,036,983 (GRCm39) |
I253N |
probably damaging |
Het |
Or1o3 |
T |
A |
17: 37,574,553 (GRCm39) |
M1L |
probably benign |
Het |
Or2c1 |
A |
C |
16: 3,657,396 (GRCm39) |
K186N |
probably damaging |
Het |
Pax6 |
A |
T |
2: 105,522,063 (GRCm39) |
E240V |
probably damaging |
Het |
Pdilt |
T |
G |
7: 119,087,217 (GRCm39) |
T478P |
probably damaging |
Het |
Phldb1 |
T |
A |
9: 44,629,619 (GRCm39) |
I25F |
probably damaging |
Het |
Rad50 |
C |
T |
11: 53,583,686 (GRCm39) |
R365Q |
probably benign |
Het |
Rdh10 |
A |
G |
1: 16,198,420 (GRCm39) |
E186G |
possibly damaging |
Het |
Rdh12 |
A |
T |
12: 79,265,498 (GRCm39) |
E224V |
probably damaging |
Het |
Reck |
T |
C |
4: 43,922,964 (GRCm39) |
V413A |
possibly damaging |
Het |
Scn8a |
A |
G |
15: 100,927,696 (GRCm39) |
I1392V |
probably benign |
Het |
Simc1 |
G |
A |
13: 54,673,044 (GRCm39) |
G464D |
probably benign |
Het |
Srf |
A |
T |
17: 46,862,534 (GRCm39) |
V318E |
probably damaging |
Het |
Stab1 |
T |
C |
14: 30,872,337 (GRCm39) |
|
probably null |
Het |
Stk3 |
T |
C |
15: 34,959,206 (GRCm39) |
D322G |
probably damaging |
Het |
Stxbp4 |
A |
G |
11: 90,430,986 (GRCm39) |
|
probably benign |
Het |
Sult2a1 |
A |
G |
7: 13,535,351 (GRCm39) |
I234T |
probably benign |
Het |
Syne1 |
A |
G |
10: 5,299,388 (GRCm39) |
F956L |
probably damaging |
Het |
Tasor2 |
A |
T |
13: 3,631,771 (GRCm39) |
I910N |
possibly damaging |
Het |
Thsd7a |
G |
T |
6: 12,471,103 (GRCm39) |
S505* |
probably null |
Het |
Tmem63a |
T |
A |
1: 180,776,391 (GRCm39) |
V67E |
probably damaging |
Het |
Tram2 |
A |
T |
1: 21,074,146 (GRCm39) |
V264E |
probably damaging |
Het |
Trpv5 |
A |
T |
6: 41,652,854 (GRCm39) |
C106* |
probably null |
Het |
Tspyl5 |
T |
A |
15: 33,686,791 (GRCm39) |
K385* |
probably null |
Het |
Vezt |
T |
A |
10: 93,820,138 (GRCm39) |
Q409L |
probably damaging |
Het |
Wdfy3 |
A |
C |
5: 102,129,414 (GRCm39) |
V4G |
probably damaging |
Het |
Wdr95 |
A |
T |
5: 149,516,637 (GRCm39) |
I493F |
probably damaging |
Het |
Zfhx4 |
A |
T |
3: 5,465,473 (GRCm39) |
N1877I |
probably damaging |
Het |
Zfp180 |
A |
G |
7: 23,804,226 (GRCm39) |
D215G |
probably benign |
Het |
Zfp442 |
A |
T |
2: 150,250,260 (GRCm39) |
Y490* |
probably null |
Het |
Zfp804b |
A |
G |
5: 7,229,513 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Vmn2r79 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01401:Vmn2r79
|
APN |
7 |
86,686,481 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01675:Vmn2r79
|
APN |
7 |
86,645,856 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01760:Vmn2r79
|
APN |
7 |
86,651,366 (GRCm39) |
missense |
probably benign |
|
IGL01834:Vmn2r79
|
APN |
7 |
86,686,354 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01843:Vmn2r79
|
APN |
7 |
86,686,485 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01914:Vmn2r79
|
APN |
7 |
86,686,571 (GRCm39) |
missense |
probably benign |
0.14 |
IGL01980:Vmn2r79
|
APN |
7 |
86,686,290 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL02438:Vmn2r79
|
APN |
7 |
86,651,744 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02740:Vmn2r79
|
APN |
7 |
86,653,366 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03052:Vmn2r79
|
UTSW |
7 |
86,652,799 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4445001:Vmn2r79
|
UTSW |
7 |
86,651,408 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0096:Vmn2r79
|
UTSW |
7 |
86,686,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R0096:Vmn2r79
|
UTSW |
7 |
86,686,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R0270:Vmn2r79
|
UTSW |
7 |
86,652,594 (GRCm39) |
missense |
probably benign |
0.00 |
R0336:Vmn2r79
|
UTSW |
7 |
86,651,287 (GRCm39) |
missense |
probably benign |
0.15 |
R0418:Vmn2r79
|
UTSW |
7 |
86,651,611 (GRCm39) |
missense |
probably benign |
0.18 |
R1070:Vmn2r79
|
UTSW |
7 |
86,652,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R1234:Vmn2r79
|
UTSW |
7 |
86,653,307 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1459:Vmn2r79
|
UTSW |
7 |
86,687,002 (GRCm39) |
missense |
probably benign |
0.01 |
R1513:Vmn2r79
|
UTSW |
7 |
86,686,652 (GRCm39) |
missense |
probably benign |
0.01 |
R1624:Vmn2r79
|
UTSW |
7 |
86,653,247 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1676:Vmn2r79
|
UTSW |
7 |
86,651,839 (GRCm39) |
missense |
probably benign |
|
R1781:Vmn2r79
|
UTSW |
7 |
86,651,555 (GRCm39) |
missense |
probably benign |
0.00 |
R1794:Vmn2r79
|
UTSW |
7 |
86,650,621 (GRCm39) |
missense |
probably benign |
0.37 |
R1823:Vmn2r79
|
UTSW |
7 |
86,687,080 (GRCm39) |
missense |
probably damaging |
1.00 |
R2013:Vmn2r79
|
UTSW |
7 |
86,653,289 (GRCm39) |
missense |
possibly damaging |
0.50 |
R2018:Vmn2r79
|
UTSW |
7 |
86,651,634 (GRCm39) |
missense |
probably benign |
0.07 |
R2019:Vmn2r79
|
UTSW |
7 |
86,651,634 (GRCm39) |
missense |
probably benign |
0.07 |
R2177:Vmn2r79
|
UTSW |
7 |
86,645,839 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2984:Vmn2r79
|
UTSW |
7 |
86,651,099 (GRCm39) |
missense |
possibly damaging |
0.85 |
R3719:Vmn2r79
|
UTSW |
7 |
86,651,245 (GRCm39) |
missense |
probably benign |
0.05 |
R3798:Vmn2r79
|
UTSW |
7 |
86,651,402 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3969:Vmn2r79
|
UTSW |
7 |
86,652,801 (GRCm39) |
missense |
probably damaging |
1.00 |
R4182:Vmn2r79
|
UTSW |
7 |
86,651,099 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4183:Vmn2r79
|
UTSW |
7 |
86,651,099 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4245:Vmn2r79
|
UTSW |
7 |
86,651,624 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4301:Vmn2r79
|
UTSW |
7 |
86,651,099 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4391:Vmn2r79
|
UTSW |
7 |
86,651,099 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4393:Vmn2r79
|
UTSW |
7 |
86,651,099 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4394:Vmn2r79
|
UTSW |
7 |
86,651,099 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4396:Vmn2r79
|
UTSW |
7 |
86,651,099 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4397:Vmn2r79
|
UTSW |
7 |
86,651,099 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4592:Vmn2r79
|
UTSW |
7 |
86,653,319 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4697:Vmn2r79
|
UTSW |
7 |
86,687,168 (GRCm39) |
missense |
probably damaging |
0.98 |
R4897:Vmn2r79
|
UTSW |
7 |
86,650,675 (GRCm39) |
missense |
probably benign |
|
R5016:Vmn2r79
|
UTSW |
7 |
86,686,548 (GRCm39) |
missense |
probably benign |
0.00 |
R5058:Vmn2r79
|
UTSW |
7 |
86,651,423 (GRCm39) |
missense |
probably damaging |
0.98 |
R5177:Vmn2r79
|
UTSW |
7 |
86,651,177 (GRCm39) |
missense |
probably damaging |
0.97 |
R6078:Vmn2r79
|
UTSW |
7 |
86,653,319 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6079:Vmn2r79
|
UTSW |
7 |
86,653,319 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6138:Vmn2r79
|
UTSW |
7 |
86,653,319 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6257:Vmn2r79
|
UTSW |
7 |
86,651,778 (GRCm39) |
missense |
probably benign |
0.27 |
R6260:Vmn2r79
|
UTSW |
7 |
86,686,365 (GRCm39) |
missense |
probably benign |
0.00 |
R6307:Vmn2r79
|
UTSW |
7 |
86,686,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R6323:Vmn2r79
|
UTSW |
7 |
86,650,522 (GRCm39) |
missense |
probably benign |
0.05 |
R6374:Vmn2r79
|
UTSW |
7 |
86,651,498 (GRCm39) |
missense |
probably benign |
0.02 |
R6530:Vmn2r79
|
UTSW |
7 |
86,651,252 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6546:Vmn2r79
|
UTSW |
7 |
86,652,741 (GRCm39) |
missense |
probably benign |
0.01 |
R6682:Vmn2r79
|
UTSW |
7 |
86,653,370 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6858:Vmn2r79
|
UTSW |
7 |
86,686,580 (GRCm39) |
missense |
probably benign |
|
R6965:Vmn2r79
|
UTSW |
7 |
86,651,100 (GRCm39) |
missense |
probably benign |
0.10 |
R7130:Vmn2r79
|
UTSW |
7 |
86,651,474 (GRCm39) |
missense |
probably damaging |
0.99 |
R7156:Vmn2r79
|
UTSW |
7 |
86,686,851 (GRCm39) |
missense |
probably damaging |
0.98 |
R7604:Vmn2r79
|
UTSW |
7 |
86,652,592 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7691:Vmn2r79
|
UTSW |
7 |
86,687,111 (GRCm39) |
missense |
probably damaging |
0.96 |
R8055:Vmn2r79
|
UTSW |
7 |
86,686,541 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8070:Vmn2r79
|
UTSW |
7 |
86,651,336 (GRCm39) |
missense |
probably benign |
|
R8073:Vmn2r79
|
UTSW |
7 |
86,651,462 (GRCm39) |
missense |
probably benign |
0.00 |
R8145:Vmn2r79
|
UTSW |
7 |
86,686,862 (GRCm39) |
missense |
probably benign |
0.02 |
R8263:Vmn2r79
|
UTSW |
7 |
86,686,726 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8350:Vmn2r79
|
UTSW |
7 |
86,686,741 (GRCm39) |
nonsense |
probably null |
|
R8400:Vmn2r79
|
UTSW |
7 |
86,651,308 (GRCm39) |
missense |
probably benign |
0.00 |
R8814:Vmn2r79
|
UTSW |
7 |
86,651,714 (GRCm39) |
missense |
probably benign |
0.00 |
R8862:Vmn2r79
|
UTSW |
7 |
86,645,712 (GRCm39) |
missense |
probably benign |
0.23 |
R9146:Vmn2r79
|
UTSW |
7 |
86,650,681 (GRCm39) |
nonsense |
probably null |
|
R9276:Vmn2r79
|
UTSW |
7 |
86,687,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R9361:Vmn2r79
|
UTSW |
7 |
86,652,822 (GRCm39) |
critical splice donor site |
probably null |
|
R9676:Vmn2r79
|
UTSW |
7 |
86,686,452 (GRCm39) |
missense |
probably damaging |
1.00 |
U15987:Vmn2r79
|
UTSW |
7 |
86,653,319 (GRCm39) |
missense |
possibly damaging |
0.86 |
X0054:Vmn2r79
|
UTSW |
7 |
86,653,270 (GRCm39) |
missense |
probably benign |
0.01 |
Z1088:Vmn2r79
|
UTSW |
7 |
86,651,549 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Vmn2r79
|
UTSW |
7 |
86,686,377 (GRCm39) |
missense |
probably benign |
|
Z1176:Vmn2r79
|
UTSW |
7 |
86,651,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAAGTTTCACTGTGGCTTTCCTG -3'
(R):5'- AATCCAATGGACTGATGGCCTCAAAA -3'
Sequencing Primer
(F):5'- GGCCAGGAATCTGCCTGAC -3'
(R):5'- TCTATATTGTCCAGGAGGTTATCTAC -3'
|
Posted On |
2014-04-24 |