Incidental Mutation 'R0336:Vmn2r79'
ID |
34120 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r79
|
Ensembl Gene |
ENSMUSG00000090362 |
Gene Name |
vomeronasal 2, receptor 79 |
Synonyms |
EG621430 |
MMRRC Submission |
038545-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R0336 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
86645673-86687176 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 86651287 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 229
(T229P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132478
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164462]
|
AlphaFold |
E9Q067 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000164462
AA Change: T229P
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000132478 Gene: ENSMUSG00000090362 AA Change: T229P
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: 99.5%
- 3x: 99.0%
- 10x: 98.1%
- 20x: 97.1%
|
Validation Efficiency |
98% (62/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,248,481 (GRCm39) |
I2743V |
probably benign |
Het |
Adamts16 |
A |
G |
13: 70,939,913 (GRCm39) |
|
probably benign |
Het |
Adgrb1 |
A |
G |
15: 74,458,998 (GRCm39) |
I427V |
probably benign |
Het |
Arhgef1 |
T |
A |
7: 24,621,382 (GRCm39) |
F510I |
possibly damaging |
Het |
B3glct |
A |
G |
5: 149,670,057 (GRCm39) |
D342G |
probably damaging |
Het |
Bcl2a1c |
G |
T |
9: 114,159,353 (GRCm39) |
V44F |
probably damaging |
Het |
Brca1 |
A |
G |
11: 101,414,819 (GRCm39) |
V1105A |
probably benign |
Het |
Ccn5 |
C |
A |
2: 163,674,242 (GRCm39) |
A214D |
probably damaging |
Het |
Cep135 |
A |
G |
5: 76,749,349 (GRCm39) |
H272R |
probably benign |
Het |
Coa8 |
T |
C |
12: 111,700,092 (GRCm39) |
|
probably benign |
Het |
Cog1 |
A |
C |
11: 113,553,076 (GRCm39) |
H365P |
probably benign |
Het |
Col12a1 |
A |
T |
9: 79,609,627 (GRCm39) |
L293Q |
probably damaging |
Het |
Col18a1 |
A |
G |
10: 76,894,570 (GRCm39) |
L1493P |
probably damaging |
Het |
Ctsh |
A |
G |
9: 89,957,791 (GRCm39) |
Y290C |
probably damaging |
Het |
Dach1 |
C |
T |
14: 98,406,184 (GRCm39) |
G188R |
probably damaging |
Het |
Defb39 |
G |
T |
8: 19,102,985 (GRCm39) |
H37N |
possibly damaging |
Het |
Epha3 |
A |
G |
16: 63,387,011 (GRCm39) |
I875T |
probably damaging |
Het |
Fbrsl1 |
A |
G |
5: 110,595,817 (GRCm39) |
S73P |
probably damaging |
Het |
Fga |
T |
C |
3: 82,938,164 (GRCm39) |
S180P |
probably damaging |
Het |
Fndc1 |
C |
T |
17: 7,983,939 (GRCm39) |
R1329Q |
unknown |
Het |
Fyn |
C |
A |
10: 39,402,897 (GRCm39) |
T223K |
possibly damaging |
Het |
Galnt6 |
A |
T |
15: 100,597,087 (GRCm39) |
S360T |
probably damaging |
Het |
Grsf1 |
C |
A |
5: 88,811,012 (GRCm39) |
V336F |
probably damaging |
Het |
Hip1 |
A |
T |
5: 135,457,467 (GRCm39) |
Y720N |
probably benign |
Het |
Hivep3 |
G |
A |
4: 119,961,044 (GRCm39) |
E1700K |
probably damaging |
Het |
Ifna6 |
T |
C |
4: 88,746,178 (GRCm39) |
S176P |
probably damaging |
Het |
Lilrb4b |
T |
A |
10: 51,357,389 (GRCm39) |
L75Q |
probably benign |
Het |
Lrig3 |
C |
T |
10: 125,802,574 (GRCm39) |
T77I |
probably benign |
Het |
Mpped1 |
C |
T |
15: 83,720,483 (GRCm39) |
P135L |
probably damaging |
Het |
Mss51 |
T |
A |
14: 20,533,254 (GRCm39) |
I406F |
possibly damaging |
Het |
Mybpc2 |
T |
C |
7: 44,155,040 (GRCm39) |
N956D |
probably damaging |
Het |
Or4a27 |
T |
C |
2: 88,559,498 (GRCm39) |
I148M |
possibly damaging |
Het |
Podxl2 |
G |
A |
6: 88,826,577 (GRCm39) |
T243I |
probably benign |
Het |
Polr2a |
C |
T |
11: 69,627,719 (GRCm39) |
R1396Q |
possibly damaging |
Het |
Pramel51 |
T |
C |
12: 88,144,961 (GRCm39) |
I122V |
probably benign |
Het |
Pygm |
C |
T |
19: 6,438,788 (GRCm39) |
R205W |
probably damaging |
Het |
Rfx3 |
A |
G |
19: 27,783,662 (GRCm39) |
M428T |
probably benign |
Het |
Ric1 |
A |
T |
19: 29,565,193 (GRCm39) |
T647S |
probably damaging |
Het |
Rictor |
G |
A |
15: 6,806,234 (GRCm39) |
|
probably null |
Het |
Rnf38 |
A |
T |
4: 44,152,350 (GRCm39) |
|
probably benign |
Het |
Slc6a21 |
T |
A |
7: 44,935,892 (GRCm39) |
I41K |
probably damaging |
Het |
St8sia4 |
T |
A |
1: 95,581,283 (GRCm39) |
D153V |
probably benign |
Het |
Stk33 |
T |
C |
7: 108,930,681 (GRCm39) |
N226S |
probably benign |
Het |
Strn3 |
A |
G |
12: 51,708,391 (GRCm39) |
|
probably null |
Het |
Tlr6 |
G |
T |
5: 65,111,289 (GRCm39) |
N539K |
probably benign |
Het |
Tmem129 |
G |
T |
5: 33,812,946 (GRCm39) |
P134Q |
probably damaging |
Het |
Tmem94 |
A |
G |
11: 115,678,211 (GRCm39) |
I145V |
probably benign |
Het |
Trap1 |
A |
C |
16: 3,862,490 (GRCm39) |
V596G |
probably damaging |
Het |
Tspan2 |
A |
G |
3: 102,642,343 (GRCm39) |
I11V |
probably null |
Het |
Ttc23 |
A |
T |
7: 67,312,231 (GRCm39) |
H46L |
probably benign |
Het |
Txnip |
T |
A |
3: 96,467,295 (GRCm39) |
D292E |
probably benign |
Het |
Vmn1r121 |
T |
A |
7: 20,832,387 (GRCm39) |
I18F |
possibly damaging |
Het |
Vmn1r61 |
G |
A |
7: 5,614,066 (GRCm39) |
H83Y |
probably benign |
Het |
Vmn1r82 |
T |
C |
7: 12,039,248 (GRCm39) |
S174P |
probably benign |
Het |
Vps13b |
T |
G |
15: 35,455,279 (GRCm39) |
Y729* |
probably null |
Het |
Xdh |
C |
T |
17: 74,229,458 (GRCm39) |
V332M |
possibly damaging |
Het |
Xkr5 |
C |
A |
8: 18,990,652 (GRCm39) |
R205L |
possibly damaging |
Het |
Zc3h4 |
T |
C |
7: 16,169,103 (GRCm39) |
S1071P |
unknown |
Het |
Zc3h6 |
A |
G |
2: 128,857,332 (GRCm39) |
H617R |
possibly damaging |
Het |
Zfp597 |
A |
G |
16: 3,684,243 (GRCm39) |
V171A |
probably benign |
Het |
Zfp709 |
T |
C |
8: 72,644,449 (GRCm39) |
F626S |
probably damaging |
Het |
Zfp944 |
C |
A |
17: 22,558,009 (GRCm39) |
D413Y |
probably damaging |
Het |
Zfp979 |
A |
C |
4: 147,697,592 (GRCm39) |
S372R |
possibly 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 |
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 |
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'- GAGCACCATGCATTCCATTGCTTC -3'
(R):5'- GTGACACACTGACCCAAAGTCTCTG -3'
Sequencing Primer
(F):5'- CATAGTGATGCTTCTGGTCAATATC -3'
(R):5'- GACCCAAAGTCTCTGAATGTTTTC -3'
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Posted On |
2013-05-09 |