Incidental Mutation 'R2019:Vmn2r79'
| ID |
223626 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r79
|
| Ensembl Gene |
ENSMUSG00000090362 |
| Gene Name |
vomeronasal 2, receptor 79 |
| Synonyms |
EG621430 |
| MMRRC Submission |
040028-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R2019 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
86645673-86687176 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 86651634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 344
(L344F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164462]
|
| AlphaFold |
E9Q067 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164462
AA Change: L344F
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000132478
Gene: ENSMUSG00000090362
AA Change: L344F
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
C |
A |
10: 76,293,899 (GRCm39) |
F252L |
possibly damaging |
Het |
| Abcc9 |
G |
A |
6: 142,621,160 (GRCm39) |
L527F |
probably damaging |
Het |
| Abi3bp |
A |
G |
16: 56,498,159 (GRCm39) |
T918A |
probably damaging |
Het |
| Acp3 |
C |
T |
9: 104,201,901 (GRCm39) |
G81R |
probably damaging |
Het |
| Acss3 |
C |
T |
10: 106,772,068 (GRCm39) |
S669N |
probably benign |
Het |
| Akt1 |
T |
C |
12: 112,626,059 (GRCm39) |
N71S |
probably damaging |
Het |
| Amz1 |
G |
T |
5: 140,737,719 (GRCm39) |
M326I |
probably benign |
Het |
| Ankrd36 |
A |
G |
11: 5,639,140 (GRCm39) |
I1351V |
probably benign |
Het |
| Art2b |
T |
C |
7: 101,229,194 (GRCm39) |
D235G |
probably benign |
Het |
| Ccdc141 |
A |
C |
2: 76,841,909 (GRCm39) |
I1507M |
probably damaging |
Het |
| Dck |
A |
G |
5: 88,921,943 (GRCm39) |
Y135C |
probably damaging |
Het |
| Dmbt1 |
T |
G |
7: 130,712,718 (GRCm39) |
I1563S |
possibly damaging |
Het |
| Dnttip2 |
T |
C |
3: 122,074,393 (GRCm39) |
V610A |
possibly damaging |
Het |
| Efhb |
A |
G |
17: 53,708,505 (GRCm39) |
S722P |
probably damaging |
Het |
| Emx2 |
A |
G |
19: 59,447,771 (GRCm39) |
S42G |
probably benign |
Het |
| Ermard |
C |
T |
17: 15,273,527 (GRCm39) |
R371C |
probably damaging |
Het |
| Fat1 |
T |
G |
8: 45,476,783 (GRCm39) |
I1943S |
probably damaging |
Het |
| Fignl1 |
T |
C |
11: 11,752,054 (GRCm39) |
K334E |
probably damaging |
Het |
| Fmn1 |
A |
C |
2: 113,194,825 (GRCm39) |
K175T |
unknown |
Het |
| Gm7247 |
A |
T |
14: 51,602,804 (GRCm39) |
M47L |
possibly damaging |
Het |
| Gpalpp1 |
A |
T |
14: 76,348,131 (GRCm39) |
|
probably null |
Het |
| Hc |
A |
C |
2: 34,903,540 (GRCm39) |
F1038C |
probably damaging |
Het |
| Ifngr1 |
A |
T |
10: 19,467,861 (GRCm39) |
M10L |
probably damaging |
Het |
| Irx5 |
T |
G |
8: 93,084,992 (GRCm39) |
Y61D |
probably damaging |
Het |
| Itgax |
A |
G |
7: 127,747,698 (GRCm39) |
H1038R |
probably benign |
Het |
| Jag1 |
C |
T |
2: 136,926,599 (GRCm39) |
E982K |
probably benign |
Het |
| Klhdc9 |
T |
C |
1: 171,186,509 (GRCm39) |
D309G |
probably damaging |
Het |
| Lamp3 |
A |
T |
16: 19,519,961 (GRCm39) |
M74K |
probably benign |
Het |
| Lrpprc |
A |
T |
17: 85,059,759 (GRCm39) |
L685Q |
possibly damaging |
Het |
| Magel2 |
G |
A |
7: 62,028,844 (GRCm39) |
V583I |
unknown |
Het |
| Mgat5b |
A |
G |
11: 116,838,174 (GRCm39) |
Y271C |
probably benign |
Het |
| Mtmr6 |
T |
C |
14: 60,536,441 (GRCm39) |
M557T |
probably benign |
Het |
| Myo16 |
T |
C |
8: 10,426,260 (GRCm39) |
L339P |
probably benign |
Het |
| Neb |
G |
T |
2: 52,122,288 (GRCm39) |
Y580* |
probably null |
Het |
| Npat |
A |
G |
9: 53,473,791 (GRCm39) |
K528E |
probably benign |
Het |
| Or1j4 |
A |
T |
2: 36,740,418 (GRCm39) |
Y120F |
possibly damaging |
Het |
| Or4a72 |
A |
G |
2: 89,405,737 (GRCm39) |
V111A |
probably damaging |
Het |
| Or5m3 |
A |
T |
2: 85,838,567 (GRCm39) |
Y149F |
probably damaging |
Het |
| Parp8 |
G |
A |
13: 117,004,968 (GRCm39) |
|
probably benign |
Het |
| Phf3 |
G |
A |
1: 30,850,928 (GRCm39) |
T1142M |
probably damaging |
Het |
| Phospho1 |
G |
A |
11: 95,721,932 (GRCm39) |
V201M |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 123,209,451 (GRCm39) |
F2371L |
probably benign |
Het |
| Pitpnm1 |
T |
C |
19: 4,163,641 (GRCm39) |
S1209P |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,787,658 (GRCm39) |
C20* |
probably null |
Het |
| Prdm5 |
C |
A |
6: 65,808,340 (GRCm39) |
N95K |
probably damaging |
Het |
| Prkx |
T |
C |
X: 76,809,010 (GRCm39) |
D270G |
probably damaging |
Het |
| Ptgis |
A |
G |
2: 167,050,199 (GRCm39) |
V310A |
probably damaging |
Het |
| Ptgis |
G |
A |
2: 167,056,730 (GRCm39) |
Q286* |
probably null |
Het |
| Rpf1 |
T |
A |
3: 146,226,976 (GRCm39) |
N59I |
probably damaging |
Het |
| Rpl3l |
A |
C |
17: 24,954,490 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
C |
T |
13: 11,866,074 (GRCm39) |
G292D |
possibly damaging |
Het |
| Ryr3 |
G |
T |
2: 112,611,410 (GRCm39) |
N2257K |
probably benign |
Het |
| Sla |
T |
C |
15: 66,654,404 (GRCm39) |
Y278C |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,064,725 (GRCm39) |
D193V |
probably damaging |
Het |
| Spire2 |
T |
C |
8: 124,059,657 (GRCm39) |
C52R |
probably damaging |
Het |
| Tada2b |
T |
C |
5: 36,641,250 (GRCm39) |
Y51C |
probably damaging |
Het |
| Tarbp1 |
C |
T |
8: 127,154,853 (GRCm39) |
V1424I |
probably damaging |
Het |
| Tbpl1 |
T |
A |
10: 22,583,576 (GRCm39) |
E131D |
probably damaging |
Het |
| Tgfbrap1 |
A |
G |
1: 43,093,677 (GRCm39) |
|
probably null |
Het |
| Tmem116 |
A |
G |
5: 121,627,317 (GRCm39) |
I151M |
possibly damaging |
Het |
| Tmem30a |
T |
C |
9: 79,681,500 (GRCm39) |
D223G |
probably damaging |
Het |
| Trim13 |
T |
A |
14: 61,842,335 (GRCm39) |
C117* |
probably null |
Het |
| Ttn |
C |
G |
2: 76,585,676 (GRCm39) |
D21987H |
probably damaging |
Het |
| Txnrd1 |
G |
A |
10: 82,713,207 (GRCm39) |
V90I |
probably benign |
Het |
| Unc79 |
G |
A |
12: 103,137,830 (GRCm39) |
|
probably null |
Het |
| Upp1 |
A |
T |
11: 9,083,240 (GRCm39) |
M111L |
possibly damaging |
Het |
| Vps39 |
T |
C |
2: 120,173,708 (GRCm39) |
Y147C |
probably damaging |
Het |
| Wdr59 |
A |
G |
8: 112,193,425 (GRCm39) |
Y666H |
probably damaging |
Het |
| Wdr95 |
A |
G |
5: 149,497,613 (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 |
|
|
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 |
|
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'- AGACTTTGGGTCAGTGTGTCAC -3'
(R):5'- AGGAGTTAAATTCCAGTACCTTTCC -3'
Sequencing Primer
(F):5'- ACTTTGGGTCAGTGTGTCACAATTTG -3'
(R):5'- GCATGTATCTACTTGTTGCAGAAGC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation