Incidental Mutation 'R5243:Vmn2r75'
| ID |
400987 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r75
|
| Ensembl Gene |
ENSMUSG00000090436 |
| Gene Name |
vomeronasal 2, receptor 75 |
| Synonyms |
EG546981 |
| MMRRC Submission |
042814-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R5243 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
85797250-85820932 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85813447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 452
(N452D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167830]
|
| AlphaFold |
G5E8Z7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167830
AA Change: N452D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126973
Gene: ENSMUSG00000090436
AA Change: N452D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
80 |
466 |
2.8e-31 |
PFAM |
|
Pfam:NCD3G
|
510 |
562 |
4.6e-20 |
PFAM |
|
Pfam:7tm_3
|
593 |
829 |
7.7e-51 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
95% (62/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
T |
12: 72,956,543 (GRCm39) |
|
probably null |
Het |
| Aatk |
A |
G |
11: 119,907,594 (GRCm39) |
L78P |
probably damaging |
Het |
| Acadsb |
T |
A |
7: 131,045,972 (GRCm39) |
I412K |
probably damaging |
Het |
| Acer3 |
T |
C |
7: 97,867,277 (GRCm39) |
R246G |
possibly damaging |
Het |
| Atp1a3 |
T |
A |
7: 24,693,994 (GRCm39) |
I387F |
probably damaging |
Het |
| Atp6v1b2 |
A |
T |
8: 69,556,391 (GRCm39) |
M300L |
probably benign |
Het |
| Aurkb |
T |
A |
11: 68,936,752 (GRCm39) |
|
probably benign |
Het |
| Card10 |
C |
A |
15: 78,664,872 (GRCm39) |
G694V |
possibly damaging |
Het |
| Ccdc171 |
A |
G |
4: 83,522,344 (GRCm39) |
N336S |
probably damaging |
Het |
| Copg2 |
T |
C |
6: 30,750,626 (GRCm39) |
T720A |
probably benign |
Het |
| Coro2a |
A |
T |
4: 46,545,620 (GRCm39) |
W272R |
probably damaging |
Het |
| Cpne6 |
T |
A |
14: 55,750,204 (GRCm39) |
C112S |
probably damaging |
Het |
| Ddx21 |
A |
G |
10: 62,437,992 (GRCm39) |
M1T |
probably null |
Het |
| Dohh |
A |
G |
10: 81,223,203 (GRCm39) |
R161G |
probably benign |
Het |
| Dsc1 |
A |
C |
18: 20,232,216 (GRCm39) |
V264G |
probably damaging |
Het |
| E4f1 |
A |
T |
17: 24,666,292 (GRCm39) |
C198S |
probably damaging |
Het |
| Evpl |
T |
A |
11: 116,113,795 (GRCm39) |
E1298D |
probably damaging |
Het |
| Grid2ip |
A |
T |
5: 143,363,260 (GRCm39) |
I246F |
probably damaging |
Het |
| H2-M1 |
A |
G |
17: 36,982,193 (GRCm39) |
F136S |
possibly damaging |
Het |
| Hck |
T |
C |
2: 152,986,412 (GRCm39) |
V387A |
probably damaging |
Het |
| Hdac1 |
G |
A |
4: 129,410,646 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
C |
8: 111,232,380 (GRCm39) |
Q1633P |
possibly damaging |
Het |
| Igkv12-41 |
A |
G |
6: 69,835,686 (GRCm39) |
I22T |
probably damaging |
Het |
| Ints3 |
CA |
CAA |
3: 90,308,451 (GRCm39) |
|
probably null |
Het |
| Itpr2 |
C |
G |
6: 146,089,044 (GRCm39) |
W2188C |
probably damaging |
Het |
| Kcnt1 |
A |
G |
2: 25,798,086 (GRCm39) |
E899G |
probably damaging |
Het |
| Lgals8 |
C |
A |
13: 12,469,645 (GRCm39) |
V12L |
probably benign |
Het |
| Lgr6 |
T |
C |
1: 135,037,010 (GRCm39) |
|
probably benign |
Het |
| Lrrc8b |
T |
G |
5: 105,628,812 (GRCm39) |
I386S |
probably damaging |
Het |
| Mks1 |
T |
C |
11: 87,747,504 (GRCm39) |
|
probably benign |
Het |
| Mon1b |
A |
G |
8: 114,364,553 (GRCm39) |
D110G |
possibly damaging |
Het |
| Mpdz |
G |
T |
4: 81,225,116 (GRCm39) |
A1437E |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,309,487 (GRCm39) |
N1753K |
probably damaging |
Het |
| Nceh1 |
T |
C |
3: 27,295,837 (GRCm39) |
V366A |
probably damaging |
Het |
| Ncor1 |
A |
T |
11: 62,229,788 (GRCm39) |
D893E |
probably damaging |
Het |
| Npc1 |
T |
A |
18: 12,331,688 (GRCm39) |
|
probably benign |
Het |
| Or1j15 |
T |
C |
2: 36,458,655 (GRCm39) |
L15P |
probably damaging |
Het |
| Or9i1b |
A |
G |
19: 13,897,025 (GRCm39) |
I214V |
probably damaging |
Het |
| Podxl2 |
T |
C |
6: 88,826,356 (GRCm39) |
T317A |
probably benign |
Het |
| Prl8a9 |
T |
G |
13: 27,746,446 (GRCm39) |
Q54P |
probably damaging |
Het |
| Prpf31 |
C |
T |
7: 3,641,753 (GRCm39) |
R351* |
probably null |
Het |
| Pspc1 |
C |
T |
14: 57,001,648 (GRCm39) |
G242D |
probably damaging |
Het |
| Rbmxl2 |
G |
C |
7: 106,809,044 (GRCm39) |
G110R |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 52,001,836 (GRCm39) |
H1763Q |
possibly damaging |
Het |
| Rpusd3 |
T |
C |
6: 113,395,025 (GRCm39) |
T85A |
probably benign |
Het |
| Rttn |
A |
G |
18: 89,126,187 (GRCm39) |
I1853M |
possibly damaging |
Het |
| Sacs |
T |
A |
14: 61,443,406 (GRCm39) |
C1817* |
probably null |
Het |
| Scrib |
A |
T |
15: 75,937,101 (GRCm39) |
V335E |
probably benign |
Het |
| Sdk2 |
A |
G |
11: 113,715,912 (GRCm39) |
L1549P |
possibly damaging |
Het |
| Slc25a11 |
C |
T |
11: 70,536,924 (GRCm39) |
G44S |
probably damaging |
Het |
| Slc6a3 |
A |
G |
13: 73,719,570 (GRCm39) |
Y533C |
possibly damaging |
Het |
| Slc7a5 |
A |
G |
8: 122,623,274 (GRCm39) |
V191A |
probably damaging |
Het |
| Son |
A |
G |
16: 91,451,621 (GRCm39) |
K123E |
probably damaging |
Het |
| Tcstv3 |
T |
A |
13: 120,779,125 (GRCm39) |
M8K |
probably benign |
Het |
| Tie1 |
A |
G |
4: 118,339,548 (GRCm39) |
V411A |
probably damaging |
Het |
| Upk3bl |
C |
A |
5: 136,088,977 (GRCm39) |
D1E |
possibly damaging |
Het |
| Vmn2r5 |
T |
C |
3: 64,411,497 (GRCm39) |
D357G |
probably damaging |
Het |
| Wnk2 |
T |
A |
13: 49,226,054 (GRCm39) |
N1043I |
possibly damaging |
Het |
| Zfp407 |
A |
T |
18: 84,579,216 (GRCm39) |
H632Q |
probably damaging |
Het |
| Zfp423 |
T |
C |
8: 88,500,275 (GRCm39) |
K1174R |
probably benign |
Het |
|
| Other mutations in Vmn2r75 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01133:Vmn2r75
|
APN |
7 |
85,797,240 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01287:Vmn2r75
|
APN |
7 |
85,797,801 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01318:Vmn2r75
|
APN |
7 |
85,814,774 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01331:Vmn2r75
|
APN |
7 |
85,820,870 (GRCm39) |
nonsense |
probably null |
|
|
IGL01406:Vmn2r75
|
APN |
7 |
85,812,500 (GRCm39) |
splice site |
probably benign |
|
|
IGL01615:Vmn2r75
|
APN |
7 |
85,797,681 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01657:Vmn2r75
|
APN |
7 |
85,813,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02237:Vmn2r75
|
APN |
7 |
85,814,786 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02275:Vmn2r75
|
APN |
7 |
85,814,348 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02307:Vmn2r75
|
APN |
7 |
85,814,974 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03136:Vmn2r75
|
APN |
7 |
85,797,911 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03160:Vmn2r75
|
APN |
7 |
85,797,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03244:Vmn2r75
|
APN |
7 |
85,820,933 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4449001:Vmn2r75
|
UTSW |
7 |
85,814,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Vmn2r75
|
UTSW |
7 |
85,797,309 (GRCm39) |
nonsense |
probably null |
|
|
R0049:Vmn2r75
|
UTSW |
7 |
85,797,309 (GRCm39) |
nonsense |
probably null |
|
|
R0083:Vmn2r75
|
UTSW |
7 |
85,814,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0108:Vmn2r75
|
UTSW |
7 |
85,814,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0276:Vmn2r75
|
UTSW |
7 |
85,797,515 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0320:Vmn2r75
|
UTSW |
7 |
85,814,288 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0471:Vmn2r75
|
UTSW |
7 |
85,814,721 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0562:Vmn2r75
|
UTSW |
7 |
85,797,449 (GRCm39) |
nonsense |
probably null |
|
|
R0631:Vmn2r75
|
UTSW |
7 |
85,812,478 (GRCm39) |
missense |
probably null |
1.00 |
|
R0661:Vmn2r75
|
UTSW |
7 |
85,814,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0811:Vmn2r75
|
UTSW |
7 |
85,814,575 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0812:Vmn2r75
|
UTSW |
7 |
85,814,575 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0891:Vmn2r75
|
UTSW |
7 |
85,813,476 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1340:Vmn2r75
|
UTSW |
7 |
85,797,798 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1501:Vmn2r75
|
UTSW |
7 |
85,814,850 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1760:Vmn2r75
|
UTSW |
7 |
85,798,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Vmn2r75
|
UTSW |
7 |
85,797,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2060:Vmn2r75
|
UTSW |
7 |
85,814,372 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2292:Vmn2r75
|
UTSW |
7 |
85,798,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3688:Vmn2r75
|
UTSW |
7 |
85,797,629 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3892:Vmn2r75
|
UTSW |
7 |
85,813,494 (GRCm39) |
missense |
probably null |
1.00 |
|
R4532:Vmn2r75
|
UTSW |
7 |
85,797,349 (GRCm39) |
nonsense |
probably null |
|
|
R4583:Vmn2r75
|
UTSW |
7 |
85,813,290 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4592:Vmn2r75
|
UTSW |
7 |
85,815,494 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4792:Vmn2r75
|
UTSW |
7 |
85,812,378 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4859:Vmn2r75
|
UTSW |
7 |
85,797,611 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4896:Vmn2r75
|
UTSW |
7 |
85,820,787 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4943:Vmn2r75
|
UTSW |
7 |
85,814,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4992:Vmn2r75
|
UTSW |
7 |
85,815,375 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5048:Vmn2r75
|
UTSW |
7 |
85,814,735 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5063:Vmn2r75
|
UTSW |
7 |
85,813,372 (GRCm39) |
missense |
probably benign |
|
|
R5156:Vmn2r75
|
UTSW |
7 |
85,813,436 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5277:Vmn2r75
|
UTSW |
7 |
85,815,500 (GRCm39) |
missense |
probably benign |
|
|
R5574:Vmn2r75
|
UTSW |
7 |
85,815,510 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5622:Vmn2r75
|
UTSW |
7 |
85,797,702 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5680:Vmn2r75
|
UTSW |
7 |
85,820,779 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5884:Vmn2r75
|
UTSW |
7 |
85,814,578 (GRCm39) |
missense |
probably benign |
|
|
R6021:Vmn2r75
|
UTSW |
7 |
85,820,820 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6217:Vmn2r75
|
UTSW |
7 |
85,815,375 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R6242:Vmn2r75
|
UTSW |
7 |
85,814,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6299:Vmn2r75
|
UTSW |
7 |
85,814,482 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6441:Vmn2r75
|
UTSW |
7 |
85,820,784 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6495:Vmn2r75
|
UTSW |
7 |
85,813,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6553:Vmn2r75
|
UTSW |
7 |
85,813,453 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6670:Vmn2r75
|
UTSW |
7 |
85,797,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7078:Vmn2r75
|
UTSW |
7 |
85,815,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7164:Vmn2r75
|
UTSW |
7 |
85,814,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8411:Vmn2r75
|
UTSW |
7 |
85,797,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8507:Vmn2r75
|
UTSW |
7 |
85,797,685 (GRCm39) |
nonsense |
probably null |
|
|
R8559:Vmn2r75
|
UTSW |
7 |
85,815,480 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8677:Vmn2r75
|
UTSW |
7 |
85,814,410 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8708:Vmn2r75
|
UTSW |
7 |
85,812,476 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8778:Vmn2r75
|
UTSW |
7 |
85,813,497 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8968:Vmn2r75
|
UTSW |
7 |
85,820,765 (GRCm39) |
nonsense |
probably null |
|
|
R9145:Vmn2r75
|
UTSW |
7 |
85,813,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9316:Vmn2r75
|
UTSW |
7 |
85,797,313 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9363:Vmn2r75
|
UTSW |
7 |
85,815,423 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTACCTGATCCATATCTGTAGCCC -3'
(R):5'- CCTGTGATCAAATAACACTATTGGCAG -3'
Sequencing Primer
(F):5'- GATCCATATCTGTAGCCCACTCC -3'
(R):5'- GTCTTTAGCACTGAATACTTCTGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation