Incidental Mutation 'R0344:Vmn2r87'
| ID |
26449 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r87
|
| Ensembl Gene |
ENSMUSG00000091511 |
| Gene Name |
vomeronasal 2, receptor 87 |
| Synonyms |
EG625131 |
| MMRRC Submission |
038551-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R0344 (G1)
|
| Quality Score |
220 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
130307690-130333248 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 130315806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 87
(E87K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129215
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164227]
|
| AlphaFold |
E9PZX4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164227
AA Change: E87K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129215
Gene: ENSMUSG00000091511
AA Change: E87K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
422 |
1.8e-27 |
PFAM |
|
Pfam:NCD3G
|
508 |
562 |
1.8e-19 |
PFAM |
|
Pfam:7tm_3
|
595 |
829 |
8.8e-55 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.3%
- 20x: 93.6%
|
| Validation Efficiency |
99% (81/82) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553J12Rik |
T |
A |
16: 88,617,189 (GRCm39) |
C29* |
probably null |
Het |
| Abca4 |
G |
A |
3: 121,877,613 (GRCm39) |
C324Y |
probably damaging |
Het |
| Ablim2 |
T |
G |
5: 35,994,277 (GRCm39) |
|
probably benign |
Het |
| Abr |
A |
T |
11: 76,369,870 (GRCm39) |
V115E |
probably damaging |
Het |
| Adgrl2 |
C |
T |
3: 148,571,231 (GRCm39) |
|
probably null |
Het |
| Aff3 |
A |
T |
1: 38,243,013 (GRCm39) |
S936T |
probably benign |
Het |
| Agap3 |
T |
C |
5: 24,656,200 (GRCm39) |
|
probably benign |
Het |
| Ahrr |
T |
A |
13: 74,362,705 (GRCm39) |
S393C |
probably damaging |
Het |
| Amfr |
T |
C |
8: 94,713,998 (GRCm39) |
|
probably null |
Het |
| Ankrd26 |
C |
A |
6: 118,484,598 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
G |
A |
18: 22,650,668 (GRCm39) |
V886I |
probably benign |
Het |
| Atp5f1a |
C |
A |
18: 77,867,895 (GRCm39) |
N356K |
probably damaging |
Het |
| AU021092 |
A |
T |
16: 5,040,031 (GRCm39) |
M31K |
possibly damaging |
Het |
| Bicral |
A |
G |
17: 47,124,978 (GRCm39) |
|
probably benign |
Het |
| Btbd9 |
C |
T |
17: 30,493,916 (GRCm39) |
D492N |
possibly damaging |
Het |
| C3ar1 |
T |
C |
6: 122,827,731 (GRCm39) |
D162G |
probably benign |
Het |
| Camkk2 |
C |
T |
5: 122,901,940 (GRCm39) |
C123Y |
probably benign |
Het |
| Casp8ap2 |
A |
T |
4: 32,644,079 (GRCm39) |
I1051F |
probably damaging |
Het |
| Catsperg1 |
A |
T |
7: 28,894,965 (GRCm39) |
V544E |
probably damaging |
Het |
| Cdc27 |
G |
A |
11: 104,417,817 (GRCm39) |
|
probably benign |
Het |
| Colec12 |
C |
T |
18: 9,858,921 (GRCm39) |
P568L |
unknown |
Het |
| Dennd6b |
T |
C |
15: 89,080,432 (GRCm39) |
Q56R |
probably benign |
Het |
| Dmac2l |
T |
C |
12: 69,787,663 (GRCm39) |
|
probably benign |
Het |
| Fbxl17 |
G |
A |
17: 63,692,062 (GRCm39) |
|
probably benign |
Het |
| Fubp1 |
T |
C |
3: 151,925,350 (GRCm39) |
V164A |
probably damaging |
Het |
| Gdap2 |
G |
A |
3: 100,085,572 (GRCm39) |
G165S |
probably damaging |
Het |
| Gns |
A |
G |
10: 121,219,328 (GRCm39) |
K352E |
probably benign |
Het |
| Gtf2ird2 |
C |
T |
5: 134,220,088 (GRCm39) |
T22M |
probably damaging |
Het |
| Herc3 |
A |
G |
6: 58,845,613 (GRCm39) |
|
probably benign |
Het |
| Hp1bp3 |
C |
T |
4: 137,964,520 (GRCm39) |
S348F |
probably damaging |
Het |
| Inpp1 |
A |
T |
1: 52,838,513 (GRCm39) |
F45L |
probably damaging |
Het |
| Ipo4 |
T |
C |
14: 55,863,399 (GRCm39) |
Q1073R |
possibly damaging |
Het |
| Itgae |
A |
G |
11: 73,008,973 (GRCm39) |
K485E |
probably benign |
Het |
| Jak2 |
G |
A |
19: 29,261,029 (GRCm39) |
V342I |
probably damaging |
Het |
| Kptn |
C |
A |
7: 15,859,666 (GRCm39) |
Q297K |
probably damaging |
Het |
| Lims2 |
A |
G |
18: 32,077,573 (GRCm39) |
E103G |
probably benign |
Het |
| Mthfr |
C |
G |
4: 148,139,885 (GRCm39) |
S618W |
probably damaging |
Het |
| Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
| Nup133 |
A |
G |
8: 124,644,185 (GRCm39) |
V727A |
possibly damaging |
Het |
| Oas2 |
T |
G |
5: 120,881,152 (GRCm39) |
E313A |
probably damaging |
Het |
| Or10d4c |
G |
A |
9: 39,558,646 (GRCm39) |
C208Y |
probably damaging |
Het |
| Or52b2 |
C |
A |
7: 104,986,814 (GRCm39) |
M36I |
probably benign |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Or5m8 |
T |
A |
2: 85,822,726 (GRCm39) |
C188* |
probably null |
Het |
| Or5p63 |
A |
T |
7: 107,810,949 (GRCm39) |
Y262* |
probably null |
Het |
| Park7 |
A |
G |
4: 150,992,806 (GRCm39) |
V20A |
possibly damaging |
Het |
| Pgap4 |
T |
C |
4: 49,586,566 (GRCm39) |
T201A |
probably benign |
Het |
| Phldb1 |
C |
A |
9: 44,612,964 (GRCm39) |
V919L |
probably benign |
Het |
| Pkhd1l1 |
C |
A |
15: 44,460,407 (GRCm39) |
H4205Q |
probably benign |
Het |
| Plekhg3 |
G |
T |
12: 76,613,040 (GRCm39) |
E449* |
probably null |
Het |
| Pramel26 |
A |
T |
4: 143,537,338 (GRCm39) |
I331N |
probably damaging |
Het |
| Pstpip1 |
T |
C |
9: 56,033,929 (GRCm39) |
V301A |
probably benign |
Het |
| Ptdss1 |
G |
A |
13: 67,081,636 (GRCm39) |
R22H |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,541,443 (GRCm39) |
V361A |
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,188,714 (GRCm39) |
V1309E |
possibly damaging |
Het |
| Rere |
T |
C |
4: 150,695,438 (GRCm39) |
|
probably benign |
Het |
| Sbk3 |
T |
A |
7: 4,970,404 (GRCm39) |
T322S |
possibly damaging |
Het |
| Scn9a |
T |
A |
2: 66,335,354 (GRCm39) |
I1203L |
probably damaging |
Het |
| Setdb1 |
A |
T |
3: 95,233,442 (GRCm39) |
|
probably benign |
Het |
| Sik3 |
C |
A |
9: 46,120,109 (GRCm39) |
Q683K |
probably damaging |
Het |
| Slc24a5 |
A |
G |
2: 124,927,621 (GRCm39) |
I307V |
probably benign |
Het |
| Smg6 |
A |
G |
11: 74,820,647 (GRCm39) |
D306G |
probably damaging |
Het |
| Snx13 |
G |
A |
12: 35,136,899 (GRCm39) |
W120* |
probably null |
Het |
| Snx5 |
A |
G |
2: 144,099,128 (GRCm39) |
|
probably benign |
Het |
| Srsf5 |
T |
C |
12: 80,994,298 (GRCm39) |
S76P |
probably benign |
Het |
| Stard6 |
A |
G |
18: 70,629,186 (GRCm39) |
D31G |
probably damaging |
Het |
| Taf3 |
A |
G |
2: 9,956,709 (GRCm39) |
M333T |
probably benign |
Het |
| Taf6 |
T |
G |
5: 138,179,409 (GRCm39) |
I377L |
probably benign |
Het |
| Taf8 |
G |
T |
17: 47,804,505 (GRCm39) |
N252K |
probably benign |
Het |
| Tfap2c |
A |
G |
2: 172,393,423 (GRCm39) |
T113A |
probably benign |
Het |
| Tmtc4 |
C |
T |
14: 123,215,572 (GRCm39) |
V25M |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,205,886 (GRCm39) |
D841E |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,185,932 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,542,833 (GRCm39) |
D33384E |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,838,067 (GRCm39) |
E928G |
probably benign |
Het |
| Vav1 |
T |
C |
17: 57,603,090 (GRCm39) |
F81L |
probably damaging |
Het |
| Vmn2r63 |
A |
G |
7: 42,553,042 (GRCm39) |
I738T |
probably damaging |
Het |
| Zfp229 |
A |
T |
17: 21,964,822 (GRCm39) |
M351L |
probably benign |
Het |
|
| Other mutations in Vmn2r87 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01090:Vmn2r87
|
APN |
10 |
130,333,247 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
IGL01295:Vmn2r87
|
APN |
10 |
130,307,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01411:Vmn2r87
|
APN |
10 |
130,308,429 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01680:Vmn2r87
|
APN |
10 |
130,315,586 (GRCm39) |
nonsense |
probably null |
|
|
IGL01822:Vmn2r87
|
APN |
10 |
130,307,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01835:Vmn2r87
|
APN |
10 |
130,314,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01965:Vmn2r87
|
APN |
10 |
130,314,924 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02562:Vmn2r87
|
APN |
10 |
130,314,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02665:Vmn2r87
|
APN |
10 |
130,333,049 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL03202:Vmn2r87
|
APN |
10 |
130,333,091 (GRCm39) |
missense |
probably benign |
|
|
FR4304:Vmn2r87
|
UTSW |
10 |
130,314,583 (GRCm39) |
missense |
probably benign |
0.01 |
|
FR4340:Vmn2r87
|
UTSW |
10 |
130,314,583 (GRCm39) |
missense |
probably benign |
0.01 |
|
FR4342:Vmn2r87
|
UTSW |
10 |
130,314,583 (GRCm39) |
missense |
probably benign |
0.01 |
|
FR4589:Vmn2r87
|
UTSW |
10 |
130,314,583 (GRCm39) |
missense |
probably benign |
0.01 |
|
LCD18:Vmn2r87
|
UTSW |
10 |
130,314,583 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0374:Vmn2r87
|
UTSW |
10 |
130,307,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0384:Vmn2r87
|
UTSW |
10 |
130,307,712 (GRCm39) |
missense |
probably benign |
|
|
R1144:Vmn2r87
|
UTSW |
10 |
130,312,098 (GRCm39) |
splice site |
probably benign |
|
|
R1172:Vmn2r87
|
UTSW |
10 |
130,313,453 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1860:Vmn2r87
|
UTSW |
10 |
130,315,755 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1866:Vmn2r87
|
UTSW |
10 |
130,308,441 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1897:Vmn2r87
|
UTSW |
10 |
130,307,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2360:Vmn2r87
|
UTSW |
10 |
130,315,631 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2909:Vmn2r87
|
UTSW |
10 |
130,314,865 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3874:Vmn2r87
|
UTSW |
10 |
130,315,856 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4113:Vmn2r87
|
UTSW |
10 |
130,315,691 (GRCm39) |
missense |
probably benign |
|
|
R4190:Vmn2r87
|
UTSW |
10 |
130,308,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4197:Vmn2r87
|
UTSW |
10 |
130,315,779 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4201:Vmn2r87
|
UTSW |
10 |
130,308,448 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4202:Vmn2r87
|
UTSW |
10 |
130,308,448 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4368:Vmn2r87
|
UTSW |
10 |
130,315,676 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4485:Vmn2r87
|
UTSW |
10 |
130,315,678 (GRCm39) |
nonsense |
probably null |
|
|
R4537:Vmn2r87
|
UTSW |
10 |
130,308,054 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4590:Vmn2r87
|
UTSW |
10 |
130,315,014 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4752:Vmn2r87
|
UTSW |
10 |
130,314,336 (GRCm39) |
nonsense |
probably null |
|
|
R4873:Vmn2r87
|
UTSW |
10 |
130,308,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4875:Vmn2r87
|
UTSW |
10 |
130,308,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4923:Vmn2r87
|
UTSW |
10 |
130,314,435 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4970:Vmn2r87
|
UTSW |
10 |
130,314,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5049:Vmn2r87
|
UTSW |
10 |
130,308,298 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5112:Vmn2r87
|
UTSW |
10 |
130,314,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5187:Vmn2r87
|
UTSW |
10 |
130,333,208 (GRCm39) |
missense |
probably null |
0.99 |
|
R5618:Vmn2r87
|
UTSW |
10 |
130,315,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6057:Vmn2r87
|
UTSW |
10 |
130,308,226 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6220:Vmn2r87
|
UTSW |
10 |
130,315,807 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6287:Vmn2r87
|
UTSW |
10 |
130,314,291 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6383:Vmn2r87
|
UTSW |
10 |
130,314,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6576:Vmn2r87
|
UTSW |
10 |
130,314,654 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6742:Vmn2r87
|
UTSW |
10 |
130,308,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7086:Vmn2r87
|
UTSW |
10 |
130,333,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7162:Vmn2r87
|
UTSW |
10 |
130,313,416 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7419:Vmn2r87
|
UTSW |
10 |
130,307,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7425:Vmn2r87
|
UTSW |
10 |
130,314,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7443:Vmn2r87
|
UTSW |
10 |
130,308,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Vmn2r87
|
UTSW |
10 |
130,314,940 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7663:Vmn2r87
|
UTSW |
10 |
130,308,054 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7716:Vmn2r87
|
UTSW |
10 |
130,308,018 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7793:Vmn2r87
|
UTSW |
10 |
130,313,413 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7806:Vmn2r87
|
UTSW |
10 |
130,315,679 (GRCm39) |
missense |
probably benign |
|
|
R7841:Vmn2r87
|
UTSW |
10 |
130,333,095 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8326:Vmn2r87
|
UTSW |
10 |
130,308,180 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8411:Vmn2r87
|
UTSW |
10 |
130,308,126 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8445:Vmn2r87
|
UTSW |
10 |
130,313,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8540:Vmn2r87
|
UTSW |
10 |
130,314,762 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8892:Vmn2r87
|
UTSW |
10 |
130,308,105 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9093:Vmn2r87
|
UTSW |
10 |
130,308,165 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9623:Vmn2r87
|
UTSW |
10 |
130,315,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9667:Vmn2r87
|
UTSW |
10 |
130,314,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9797:Vmn2r87
|
UTSW |
10 |
130,312,064 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9797:Vmn2r87
|
UTSW |
10 |
130,308,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Vmn2r87
|
UTSW |
10 |
130,308,183 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Vmn2r87
|
UTSW |
10 |
130,307,713 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTGTCCAAGAATCAATTGCCAGTTT -3'
(R):5'- GCCCAGGGGTGGCCTTGAATA -3'
Sequencing Primer
(F):5'- ATGGTCCTGTAAGGTCTATGACAC -3'
(R):5'- GGACTGTAATCTAGTTCAAAGATGGC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation