Incidental Mutation 'R6257:Vmn2r79'
ID |
506394 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r79
|
Ensembl Gene |
ENSMUSG00000090362 |
Gene Name |
vomeronasal 2, receptor 79 |
Synonyms |
EG621430 |
MMRRC Submission |
044374-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R6257 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
86645673-86687176 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 86651778 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 392
(L392F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132478
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164462]
|
AlphaFold |
E9Q067 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000164462
AA Change: L392F
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000132478 Gene: ENSMUSG00000090362 AA Change: L392F
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.4%
|
Validation Efficiency |
97% (74/76) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
A |
T |
17: 36,272,074 (GRCm39) |
N313K |
probably benign |
Het |
Adamts2 |
T |
C |
11: 50,666,153 (GRCm39) |
V383A |
probably damaging |
Het |
Adamts6 |
A |
T |
13: 104,598,790 (GRCm39) |
Q877L |
probably benign |
Het |
Adgre4 |
C |
T |
17: 56,109,133 (GRCm39) |
T380I |
possibly damaging |
Het |
Aspm |
A |
G |
1: 139,409,791 (GRCm39) |
|
probably null |
Het |
Atg16l2 |
A |
G |
7: 100,951,102 (GRCm39) |
|
probably null |
Het |
Bcl6b |
C |
T |
11: 70,116,878 (GRCm39) |
R467H |
probably benign |
Het |
Cacna2d4 |
G |
A |
6: 119,258,580 (GRCm39) |
|
probably null |
Het |
Casp8ap2 |
A |
G |
4: 32,641,364 (GRCm39) |
D806G |
possibly damaging |
Het |
Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
Ccser1 |
A |
G |
6: 61,350,946 (GRCm39) |
D501G |
probably damaging |
Het |
Ccser1 |
A |
G |
6: 62,356,769 (GRCm39) |
T736A |
probably benign |
Het |
Cd164l2 |
T |
A |
4: 132,948,345 (GRCm39) |
C19S |
unknown |
Het |
Cdk15 |
G |
A |
1: 59,296,264 (GRCm39) |
|
probably null |
Het |
Cebpz |
T |
C |
17: 79,243,261 (GRCm39) |
E131G |
probably benign |
Het |
Ces1d |
T |
C |
8: 93,893,025 (GRCm39) |
D519G |
probably benign |
Het |
Cftr |
A |
C |
6: 18,282,500 (GRCm39) |
T1067P |
probably benign |
Het |
Chd1 |
T |
G |
17: 15,950,465 (GRCm39) |
|
probably null |
Het |
Chil4 |
T |
A |
3: 106,111,412 (GRCm39) |
D234V |
possibly damaging |
Het |
Cldn16 |
T |
A |
16: 26,300,080 (GRCm39) |
S173T |
probably damaging |
Het |
Cpd |
A |
T |
11: 76,703,496 (GRCm39) |
F456I |
probably benign |
Het |
Cst8 |
C |
A |
2: 148,647,365 (GRCm39) |
A125E |
probably damaging |
Het |
Dars2 |
G |
T |
1: 160,869,398 (GRCm39) |
P617Q |
probably damaging |
Het |
Defb26 |
A |
G |
2: 152,349,860 (GRCm39) |
V140A |
unknown |
Het |
Dntt |
T |
G |
19: 41,041,501 (GRCm39) |
V395G |
probably damaging |
Het |
Dock10 |
G |
A |
1: 80,481,413 (GRCm39) |
|
probably benign |
Het |
Dscam |
T |
C |
16: 96,474,914 (GRCm39) |
N1216S |
possibly damaging |
Het |
En1 |
A |
T |
1: 120,531,636 (GRCm39) |
D292V |
unknown |
Het |
Erbb4 |
A |
T |
1: 68,435,432 (GRCm39) |
L155Q |
probably damaging |
Het |
Erbin |
T |
C |
13: 103,998,796 (GRCm39) |
T197A |
probably benign |
Het |
Fat2 |
A |
G |
11: 55,153,407 (GRCm39) |
F3602L |
probably benign |
Het |
Fcsk |
A |
T |
8: 111,617,177 (GRCm39) |
C365S |
probably benign |
Het |
Gm3443 |
A |
T |
19: 21,533,075 (GRCm39) |
D13V |
unknown |
Het |
Gm6401 |
T |
C |
14: 41,789,828 (GRCm39) |
Q10R |
probably benign |
Het |
Gmcl1 |
G |
A |
6: 86,677,623 (GRCm39) |
T410I |
possibly damaging |
Het |
Grid2ip |
G |
A |
5: 143,366,184 (GRCm39) |
S379N |
probably damaging |
Het |
H2-T24 |
T |
A |
17: 36,325,574 (GRCm39) |
T305S |
probably benign |
Het |
Ksr2 |
A |
T |
5: 117,552,909 (GRCm39) |
M6L |
probably benign |
Het |
Lama2 |
A |
G |
10: 26,862,895 (GRCm39) |
L2956S |
possibly damaging |
Het |
Lhfpl3 |
A |
G |
5: 22,951,557 (GRCm39) |
T123A |
probably benign |
Het |
Lrp1b |
T |
A |
2: 40,486,981 (GRCm39) |
|
probably null |
Het |
Ltn1 |
G |
A |
16: 87,208,662 (GRCm39) |
A812V |
possibly damaging |
Het |
Maml2 |
C |
T |
9: 13,531,722 (GRCm39) |
S312L |
probably damaging |
Het |
Myo7b |
T |
A |
18: 32,146,468 (GRCm39) |
N106Y |
probably damaging |
Het |
Nacc2 |
A |
T |
2: 25,950,420 (GRCm39) |
C439S |
probably damaging |
Het |
Ncoa7 |
A |
G |
10: 30,570,173 (GRCm39) |
I224T |
probably damaging |
Het |
Nf1 |
A |
T |
11: 79,440,317 (GRCm39) |
L2303F |
probably damaging |
Het |
Noc3l |
A |
T |
19: 38,784,349 (GRCm39) |
|
probably null |
Het |
Nup155 |
C |
T |
15: 8,180,282 (GRCm39) |
R1120* |
probably null |
Het |
Oas3 |
C |
A |
5: 120,899,200 (GRCm39) |
|
probably benign |
Het |
Ocln |
T |
C |
13: 100,676,017 (GRCm39) |
I159V |
probably benign |
Het |
Or1p1c |
T |
C |
11: 74,160,833 (GRCm39) |
V206A |
probably damaging |
Het |
Or2t45 |
T |
A |
11: 58,669,829 (GRCm39) |
V292E |
probably damaging |
Het |
Os9 |
A |
C |
10: 126,955,006 (GRCm39) |
C181G |
probably damaging |
Het |
Phldb1 |
C |
T |
9: 44,607,437 (GRCm39) |
R1256Q |
probably damaging |
Het |
Pkd1l1 |
G |
A |
11: 8,892,195 (GRCm39) |
T208I |
probably benign |
Het |
Plppr4 |
T |
C |
3: 117,116,228 (GRCm39) |
Q485R |
possibly damaging |
Het |
Prkcb |
T |
A |
7: 122,167,386 (GRCm39) |
D365E |
probably benign |
Het |
Ptprz1 |
T |
A |
6: 22,959,639 (GRCm39) |
N45K |
probably damaging |
Het |
Rbl2 |
T |
C |
8: 91,842,306 (GRCm39) |
L987P |
probably damaging |
Het |
Runx1 |
T |
A |
16: 92,492,799 (GRCm39) |
|
probably benign |
Het |
Septin4 |
C |
A |
11: 87,481,175 (GRCm39) |
Q372K |
probably benign |
Het |
Slc24a4 |
A |
G |
12: 102,220,769 (GRCm39) |
E400G |
probably benign |
Het |
Smtnl2 |
G |
A |
11: 72,292,225 (GRCm39) |
A274V |
probably damaging |
Het |
Sri |
T |
A |
5: 8,109,596 (GRCm39) |
|
probably null |
Het |
St3gal3 |
C |
T |
4: 117,964,875 (GRCm39) |
|
probably benign |
Het |
Tfpt |
A |
T |
7: 3,632,566 (GRCm39) |
L3* |
probably null |
Het |
Tgfb3 |
T |
C |
12: 86,124,615 (GRCm39) |
D31G |
possibly damaging |
Het |
Thsd7a |
G |
T |
6: 12,408,987 (GRCm39) |
C678* |
probably null |
Het |
Tmbim1 |
A |
G |
1: 74,332,225 (GRCm39) |
Y101H |
probably damaging |
Het |
Tmem17 |
A |
G |
11: 22,462,297 (GRCm39) |
|
probably benign |
Het |
Tmprss15 |
A |
T |
16: 78,769,113 (GRCm39) |
V769E |
probably damaging |
Het |
Trak1 |
C |
T |
9: 121,275,821 (GRCm39) |
R175C |
probably damaging |
Het |
Trak1 |
G |
T |
9: 121,196,290 (GRCm39) |
V41F |
possibly damaging |
Het |
Trim30c |
T |
C |
7: 104,039,375 (GRCm39) |
Y140C |
probably damaging |
Het |
Tubgcp3 |
A |
T |
8: 12,699,835 (GRCm39) |
|
probably null |
Het |
Ubr7 |
T |
A |
12: 102,732,099 (GRCm39) |
C158* |
probably null |
Het |
Zfp536 |
T |
A |
7: 37,179,830 (GRCm39) |
D925V |
probably damaging |
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 |
|
R1633:Vmn2r79
|
UTSW |
7 |
86,687,042 (GRCm39) |
missense |
possibly damaging |
0.52 |
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 |
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'- CAGCAGTCTGAGATGTCTGG -3'
(R):5'- CTTATACAGTGGCAGAGTGTGG -3'
Sequencing Primer
(F):5'- CAGTCTGAGATGTCTGGTTTTAAAC -3'
(R):5'- CAGAGTGTGGAAATACATGCATTTAG -3'
|
Posted On |
2018-03-15 |