Incidental Mutation 'R7398:Vmn2r94'
| ID |
573993 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r94
|
| Ensembl Gene |
ENSMUSG00000090417 |
| Gene Name |
vomeronasal 2, receptor 94 |
| Synonyms |
EG665227 |
| MMRRC Submission |
045480-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R7398 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
18461384-18498018 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 18477603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 269
(N269K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172190]
[ENSMUST00000231457]
[ENSMUST00000231815]
|
| AlphaFold |
E9PZK8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172190
AA Change: N269K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000126386
Gene: ENSMUSG00000090417
AA Change: N269K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
42 |
425 |
1.7e-35 |
PFAM |
|
Pfam:NCD3G
|
469 |
522 |
3.5e-21 |
PFAM |
|
Pfam:7tm_3
|
553 |
790 |
1.7e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231457
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231815
AA Change: N269K
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
T |
A |
2: 31,680,811 (GRCm39) |
S368T |
probably damaging |
Het |
| Acmsd |
A |
G |
1: 127,657,172 (GRCm39) |
|
probably benign |
Het |
| Arid3b |
A |
T |
9: 57,703,495 (GRCm39) |
S445T |
probably benign |
Het |
| Brinp1 |
A |
G |
4: 68,759,591 (GRCm39) |
V91A |
probably benign |
Het |
| Ccne1 |
A |
G |
7: 37,805,702 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
A |
T |
1: 45,366,973 (GRCm39) |
I249F |
unknown |
Het |
| Crybg3 |
T |
C |
16: 59,377,688 (GRCm39) |
I1189V |
probably benign |
Het |
| Cyp2d34 |
A |
T |
15: 82,500,964 (GRCm39) |
D389E |
probably benign |
Het |
| D130043K22Rik |
A |
C |
13: 25,077,360 (GRCm39) |
I998L |
probably damaging |
Het |
| Dgkq |
A |
G |
5: 108,803,056 (GRCm39) |
I298T |
possibly damaging |
Het |
| Dnah17 |
T |
C |
11: 117,971,550 (GRCm39) |
E2161G |
probably damaging |
Het |
| Dnajc25 |
T |
C |
4: 59,017,824 (GRCm39) |
|
probably null |
Het |
| Dpp9 |
G |
A |
17: 56,496,405 (GRCm39) |
R768* |
probably null |
Het |
| Dusp6 |
T |
A |
10: 99,100,740 (GRCm39) |
N245K |
probably damaging |
Het |
| Eea1 |
C |
A |
10: 95,831,493 (GRCm39) |
H195N |
probably benign |
Het |
| Efhc1 |
A |
G |
1: 21,059,744 (GRCm39) |
E598G |
probably benign |
Het |
| Epb41l1 |
T |
C |
2: 156,376,682 (GRCm39) |
V809A |
probably damaging |
Het |
| Gas8 |
T |
A |
8: 124,245,690 (GRCm39) |
M1K |
probably null |
Het |
| Gcm1 |
G |
A |
9: 77,971,961 (GRCm39) |
V301I |
probably benign |
Het |
| Gm11554 |
T |
A |
11: 99,695,085 (GRCm39) |
S43C |
unknown |
Het |
| Gm7298 |
A |
G |
6: 121,758,912 (GRCm39) |
I1177V |
probably benign |
Het |
| Gm8011 |
A |
G |
14: 42,285,918 (GRCm39) |
T27A |
|
Het |
| Hmcn1 |
A |
G |
1: 150,522,421 (GRCm39) |
I3493T |
probably benign |
Het |
| Insrr |
T |
G |
3: 87,716,039 (GRCm39) |
I578S |
probably damaging |
Het |
| Kif13b |
A |
G |
14: 64,994,972 (GRCm39) |
D908G |
probably null |
Het |
| Lhcgr |
G |
C |
17: 89,079,474 (GRCm39) |
Q71E |
probably benign |
Het |
| Lrrc34 |
T |
C |
3: 30,697,491 (GRCm39) |
D80G |
probably damaging |
Het |
| Lrrc7 |
C |
A |
3: 157,997,595 (GRCm39) |
E156* |
probably null |
Het |
| Lrrc9 |
A |
G |
12: 72,547,590 (GRCm39) |
D1255G |
probably damaging |
Het |
| Mcidas |
A |
G |
13: 113,133,416 (GRCm39) |
N116D |
probably benign |
Het |
| Mmp7 |
A |
G |
9: 7,697,594 (GRCm39) |
N210D |
probably damaging |
Het |
| Morc3 |
A |
G |
16: 93,671,748 (GRCm39) |
D926G |
probably damaging |
Het |
| Mrgpra9 |
A |
G |
7: 46,885,385 (GRCm39) |
I94T |
possibly damaging |
Het |
| Muc16 |
C |
A |
9: 18,549,038 (GRCm39) |
V5752F |
possibly damaging |
Het |
| Myo16 |
A |
T |
8: 10,612,183 (GRCm39) |
D1276V |
unknown |
Het |
| Nlrc4 |
T |
G |
17: 74,753,537 (GRCm39) |
E282A |
probably damaging |
Het |
| Nos2 |
T |
A |
11: 78,827,297 (GRCm39) |
Y227* |
probably null |
Het |
| Obox5 |
A |
C |
7: 15,492,713 (GRCm39) |
M223L |
probably benign |
Het |
| Or10ak13 |
C |
A |
4: 118,638,896 (GRCm39) |
L295F |
possibly damaging |
Het |
| Pygm |
G |
A |
19: 6,435,966 (GRCm39) |
R139H |
probably damaging |
Het |
| Ranbp2 |
C |
A |
10: 58,303,099 (GRCm39) |
P789T |
probably damaging |
Het |
| Riok2 |
T |
G |
17: 17,607,501 (GRCm39) |
S350A |
probably benign |
Het |
| Rnf214 |
C |
T |
9: 45,778,845 (GRCm39) |
V445I |
possibly damaging |
Het |
| Skida1 |
C |
T |
2: 18,051,083 (GRCm39) |
V603I |
unknown |
Het |
| Skint6 |
T |
A |
4: 112,755,335 (GRCm39) |
R747S |
probably benign |
Het |
| Slc24a5 |
G |
A |
2: 124,927,694 (GRCm39) |
W331* |
probably null |
Het |
| Slc5a10 |
A |
T |
11: 61,564,405 (GRCm39) |
C525S |
probably benign |
Het |
| Styxl2 |
A |
G |
1: 165,928,044 (GRCm39) |
S523P |
probably damaging |
Het |
| Sult2b1 |
T |
C |
7: 45,380,718 (GRCm39) |
Y288C |
probably damaging |
Het |
| Tagln3 |
G |
T |
16: 45,543,440 (GRCm39) |
N67K |
probably damaging |
Het |
| Trav21-dv12 |
A |
T |
14: 54,114,162 (GRCm39) |
H94L |
probably benign |
Het |
| Tshz2 |
A |
G |
2: 169,726,094 (GRCm39) |
E230G |
probably damaging |
Het |
| Usb1 |
T |
A |
8: 96,071,931 (GRCm39) |
H210Q |
probably damaging |
Het |
| Vill |
C |
T |
9: 118,899,716 (GRCm39) |
P767L |
probably benign |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
|
| Other mutations in Vmn2r94 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01396:Vmn2r94
|
APN |
17 |
18,477,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01676:Vmn2r94
|
APN |
17 |
18,477,272 (GRCm39) |
missense |
probably benign |
|
|
IGL01687:Vmn2r94
|
APN |
17 |
18,473,574 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02113:Vmn2r94
|
APN |
17 |
18,477,937 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02408:Vmn2r94
|
APN |
17 |
18,473,523 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02451:Vmn2r94
|
APN |
17 |
18,478,453 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02755:Vmn2r94
|
APN |
17 |
18,464,761 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02822:Vmn2r94
|
APN |
17 |
18,463,882 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02868:Vmn2r94
|
APN |
17 |
18,464,316 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL03008:Vmn2r94
|
APN |
17 |
18,477,908 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0112:Vmn2r94
|
UTSW |
17 |
18,463,866 (GRCm39) |
missense |
probably benign |
|
|
R0371:Vmn2r94
|
UTSW |
17 |
18,477,556 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0413:Vmn2r94
|
UTSW |
17 |
18,464,080 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0627:Vmn2r94
|
UTSW |
17 |
18,477,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0737:Vmn2r94
|
UTSW |
17 |
18,497,695 (GRCm39) |
nonsense |
probably null |
|
|
R0815:Vmn2r94
|
UTSW |
17 |
18,477,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0863:Vmn2r94
|
UTSW |
17 |
18,477,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1125:Vmn2r94
|
UTSW |
17 |
18,477,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1276:Vmn2r94
|
UTSW |
17 |
18,477,344 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1491:Vmn2r94
|
UTSW |
17 |
18,477,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1500:Vmn2r94
|
UTSW |
17 |
18,477,242 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1610:Vmn2r94
|
UTSW |
17 |
18,463,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1664:Vmn2r94
|
UTSW |
17 |
18,464,406 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1716:Vmn2r94
|
UTSW |
17 |
18,477,635 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1843:Vmn2r94
|
UTSW |
17 |
18,464,732 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1882:Vmn2r94
|
UTSW |
17 |
18,464,476 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1936:Vmn2r94
|
UTSW |
17 |
18,464,554 (GRCm39) |
nonsense |
probably null |
|
|
R2273:Vmn2r94
|
UTSW |
17 |
18,477,593 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2508:Vmn2r94
|
UTSW |
17 |
18,477,736 (GRCm39) |
missense |
probably benign |
0.32 |
|
R3436:Vmn2r94
|
UTSW |
17 |
18,478,650 (GRCm39) |
splice site |
probably benign |
|
|
R3917:Vmn2r94
|
UTSW |
17 |
18,464,620 (GRCm39) |
missense |
probably benign |
|
|
R3968:Vmn2r94
|
UTSW |
17 |
18,478,647 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3969:Vmn2r94
|
UTSW |
17 |
18,478,647 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4257:Vmn2r94
|
UTSW |
17 |
18,464,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4271:Vmn2r94
|
UTSW |
17 |
18,463,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4349:Vmn2r94
|
UTSW |
17 |
18,464,605 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4436:Vmn2r94
|
UTSW |
17 |
18,478,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4603:Vmn2r94
|
UTSW |
17 |
18,477,647 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4821:Vmn2r94
|
UTSW |
17 |
18,477,293 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5288:Vmn2r94
|
UTSW |
17 |
18,464,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5725:Vmn2r94
|
UTSW |
17 |
18,476,489 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5735:Vmn2r94
|
UTSW |
17 |
18,464,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6066:Vmn2r94
|
UTSW |
17 |
18,477,695 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6124:Vmn2r94
|
UTSW |
17 |
18,464,321 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6189:Vmn2r94
|
UTSW |
17 |
18,477,996 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6245:Vmn2r94
|
UTSW |
17 |
18,478,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6574:Vmn2r94
|
UTSW |
17 |
18,476,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7236:Vmn2r94
|
UTSW |
17 |
18,477,811 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7317:Vmn2r94
|
UTSW |
17 |
18,463,882 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7399:Vmn2r94
|
UTSW |
17 |
18,464,765 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7478:Vmn2r94
|
UTSW |
17 |
18,477,767 (GRCm39) |
missense |
probably benign |
|
|
R8099:Vmn2r94
|
UTSW |
17 |
18,477,659 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8189:Vmn2r94
|
UTSW |
17 |
18,478,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8217:Vmn2r94
|
UTSW |
17 |
18,463,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8303:Vmn2r94
|
UTSW |
17 |
18,464,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8543:Vmn2r94
|
UTSW |
17 |
18,463,984 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R8684:Vmn2r94
|
UTSW |
17 |
18,497,912 (GRCm39) |
start gained |
probably benign |
|
|
R8889:Vmn2r94
|
UTSW |
17 |
18,464,335 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8892:Vmn2r94
|
UTSW |
17 |
18,464,335 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9282:Vmn2r94
|
UTSW |
17 |
18,497,751 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9526:Vmn2r94
|
UTSW |
17 |
18,477,261 (GRCm39) |
missense |
probably benign |
|
|
R9647:Vmn2r94
|
UTSW |
17 |
18,463,884 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9748:Vmn2r94
|
UTSW |
17 |
18,463,989 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9789:Vmn2r94
|
UTSW |
17 |
18,464,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF014:Vmn2r94
|
UTSW |
17 |
18,473,549 (GRCm39) |
nonsense |
probably null |
|
|
X0011:Vmn2r94
|
UTSW |
17 |
18,464,710 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
X0028:Vmn2r94
|
UTSW |
17 |
18,464,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCCAAAGAAGCATTGGTTTGAC -3'
(R):5'- ATGATCCCAGCCACATGGAC -3'
Sequencing Primer
(F):5'- AGAAGCATTGGTTTGACACTTGTCC -3'
(R):5'- CAGCCACATGGACTGCATATTTTAC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation