Incidental Mutation 'R5362:Vmn2r99'
| ID |
422898 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r99
|
| Ensembl Gene |
ENSMUSG00000090304 |
| Gene Name |
vomeronasal 2, receptor 99 |
| Synonyms |
EG665376 |
| MMRRC Submission |
043264-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R5362 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
19582397-19614852 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 19599601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 428
(M428I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176107]
[ENSMUST00000231989]
|
| AlphaFold |
H3BK37 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176107
AA Change: M428I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135236
Gene: ENSMUSG00000090304
AA Change: M428I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
81 |
448 |
5.7e-33 |
PFAM |
|
Pfam:NCD3G
|
508 |
561 |
1.8e-21 |
PFAM |
|
Pfam:7tm_3
|
593 |
829 |
4.6e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231989
AA Change: M428I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530400C23Rik |
A |
T |
6: 133,271,445 (GRCm39) |
D163V |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Ankrd17 |
G |
A |
5: 90,413,404 (GRCm39) |
A1170V |
probably damaging |
Het |
| Ano1 |
A |
C |
7: 144,202,337 (GRCm39) |
|
probably benign |
Het |
| Atl2 |
T |
C |
17: 80,168,890 (GRCm39) |
N37D |
probably damaging |
Het |
| C2cd5 |
T |
C |
6: 143,028,969 (GRCm39) |
Y90C |
probably damaging |
Het |
| Carm1 |
A |
G |
9: 21,498,655 (GRCm39) |
N499S |
probably benign |
Het |
| Ccdc47 |
G |
A |
11: 106,099,039 (GRCm39) |
|
probably null |
Het |
| Cd300lf |
G |
T |
11: 115,007,940 (GRCm39) |
L251M |
probably damaging |
Het |
| Cfap74 |
A |
G |
4: 155,522,623 (GRCm39) |
S670G |
probably damaging |
Het |
| Clec4a1 |
A |
G |
6: 122,909,196 (GRCm39) |
D188G |
probably damaging |
Het |
| Col4a1 |
T |
C |
8: 11,295,760 (GRCm39) |
|
probably benign |
Het |
| Csn2 |
T |
A |
5: 87,842,508 (GRCm39) |
H165L |
probably benign |
Het |
| Cstdc1 |
G |
T |
2: 148,625,298 (GRCm39) |
L77F |
probably damaging |
Het |
| Dlx3 |
T |
C |
11: 95,011,326 (GRCm39) |
V60A |
possibly damaging |
Het |
| Elp1 |
A |
C |
4: 56,778,969 (GRCm39) |
I616S |
probably damaging |
Het |
| Fam221a |
A |
G |
6: 49,353,049 (GRCm39) |
H21R |
probably damaging |
Het |
| Foxj3 |
T |
A |
4: 119,477,340 (GRCm39) |
H349Q |
unknown |
Het |
| Gm37240 |
G |
A |
3: 84,423,000 (GRCm39) |
T123I |
probably damaging |
Het |
| Gpc1 |
A |
T |
1: 92,782,615 (GRCm39) |
T121S |
probably benign |
Het |
| Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
| Itga2b |
A |
G |
11: 102,351,961 (GRCm39) |
V512A |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,002,675 (GRCm39) |
Y144C |
probably damaging |
Het |
| Izumo3 |
A |
T |
4: 92,035,037 (GRCm39) |
I60K |
possibly damaging |
Het |
| Kif9 |
G |
A |
9: 110,319,012 (GRCm39) |
V159M |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,265,914 (GRCm39) |
D229G |
probably damaging |
Het |
| Nkpd1 |
G |
A |
7: 19,257,193 (GRCm39) |
G324D |
probably damaging |
Het |
| Nrp2 |
T |
A |
1: 62,808,221 (GRCm39) |
Y617N |
probably benign |
Het |
| Ocm |
T |
C |
5: 143,960,674 (GRCm39) |
D91G |
probably damaging |
Het |
| Or4l15 |
A |
G |
14: 50,197,986 (GRCm39) |
L181P |
possibly damaging |
Het |
| Or52ad1 |
A |
G |
7: 102,995,454 (GRCm39) |
V227A |
probably damaging |
Het |
| Or52n2b |
A |
G |
7: 104,565,834 (GRCm39) |
I223T |
probably damaging |
Het |
| Or6c70 |
T |
C |
10: 129,710,422 (GRCm39) |
E68G |
probably damaging |
Het |
| Pex5l |
G |
A |
3: 33,047,065 (GRCm39) |
A295V |
probably damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,108,030 (GRCm39) |
V1029E |
possibly damaging |
Het |
| Pou2f2 |
G |
A |
7: 24,792,320 (GRCm39) |
P512S |
probably benign |
Het |
| Prpf8 |
G |
A |
11: 75,397,236 (GRCm39) |
R2023Q |
possibly damaging |
Het |
| Ptprd |
A |
T |
4: 76,047,050 (GRCm39) |
S399R |
probably damaging |
Het |
| Qrich2 |
T |
C |
11: 116,337,976 (GRCm39) |
Y1889C |
probably damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Ranbp6 |
G |
T |
19: 29,789,128 (GRCm39) |
T408K |
probably benign |
Het |
| Scn7a |
G |
A |
2: 66,530,342 (GRCm39) |
R668C |
probably damaging |
Het |
| Sertad4 |
T |
C |
1: 192,529,414 (GRCm39) |
N134S |
probably damaging |
Het |
| Spg11 |
G |
T |
2: 121,891,481 (GRCm39) |
N1963K |
probably damaging |
Het |
| Svil |
C |
T |
18: 5,057,345 (GRCm39) |
P598S |
probably damaging |
Het |
| Top2a |
T |
C |
11: 98,909,738 (GRCm39) |
N120S |
probably damaging |
Het |
| Trappc9 |
C |
T |
15: 72,930,066 (GRCm39) |
E97K |
possibly damaging |
Het |
| Vmn1r91 |
A |
T |
7: 19,835,386 (GRCm39) |
T102S |
probably benign |
Het |
| Zfp62 |
A |
T |
11: 49,107,439 (GRCm39) |
H510L |
probably damaging |
Het |
|
| Other mutations in Vmn2r99 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00503:Vmn2r99
|
APN |
17 |
19,599,116 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01113:Vmn2r99
|
APN |
17 |
19,614,518 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01138:Vmn2r99
|
APN |
17 |
19,602,885 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01646:Vmn2r99
|
APN |
17 |
19,613,920 (GRCm39) |
splice site |
probably benign |
|
|
IGL01769:Vmn2r99
|
APN |
17 |
19,600,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02112:Vmn2r99
|
APN |
17 |
19,600,494 (GRCm39) |
missense |
probably null |
0.99 |
|
IGL02891:Vmn2r99
|
APN |
17 |
19,598,952 (GRCm39) |
nonsense |
probably null |
|
|
IGL03132:Vmn2r99
|
APN |
17 |
19,598,485 (GRCm39) |
nonsense |
probably null |
|
|
FR4548:Vmn2r99
|
UTSW |
17 |
19,614,547 (GRCm39) |
missense |
probably damaging |
0.97 |
|
FR4976:Vmn2r99
|
UTSW |
17 |
19,614,547 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4382001:Vmn2r99
|
UTSW |
17 |
19,614,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0196:Vmn2r99
|
UTSW |
17 |
19,614,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0720:Vmn2r99
|
UTSW |
17 |
19,599,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1501:Vmn2r99
|
UTSW |
17 |
19,582,521 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1519:Vmn2r99
|
UTSW |
17 |
19,600,322 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1670:Vmn2r99
|
UTSW |
17 |
19,582,514 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1682:Vmn2r99
|
UTSW |
17 |
19,598,207 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1873:Vmn2r99
|
UTSW |
17 |
19,582,415 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1967:Vmn2r99
|
UTSW |
17 |
19,599,077 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2101:Vmn2r99
|
UTSW |
17 |
19,598,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2474:Vmn2r99
|
UTSW |
17 |
19,598,891 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2519:Vmn2r99
|
UTSW |
17 |
19,598,970 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3911:Vmn2r99
|
UTSW |
17 |
19,614,635 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3947:Vmn2r99
|
UTSW |
17 |
19,599,252 (GRCm39) |
missense |
probably benign |
0.40 |
|
R3949:Vmn2r99
|
UTSW |
17 |
19,599,252 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4016:Vmn2r99
|
UTSW |
17 |
19,598,832 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4413:Vmn2r99
|
UTSW |
17 |
19,599,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4594:Vmn2r99
|
UTSW |
17 |
19,613,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4999:Vmn2r99
|
UTSW |
17 |
19,582,397 (GRCm39) |
start codon destroyed |
probably null |
0.96 |
|
R5206:Vmn2r99
|
UTSW |
17 |
19,598,868 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5377:Vmn2r99
|
UTSW |
17 |
19,599,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5455:Vmn2r99
|
UTSW |
17 |
19,614,408 (GRCm39) |
nonsense |
probably null |
|
|
R6021:Vmn2r99
|
UTSW |
17 |
19,598,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6059:Vmn2r99
|
UTSW |
17 |
19,599,242 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6214:Vmn2r99
|
UTSW |
17 |
19,602,820 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6215:Vmn2r99
|
UTSW |
17 |
19,602,820 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6313:Vmn2r99
|
UTSW |
17 |
19,602,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6646:Vmn2r99
|
UTSW |
17 |
19,600,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6810:Vmn2r99
|
UTSW |
17 |
19,600,296 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6885:Vmn2r99
|
UTSW |
17 |
19,600,457 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6991:Vmn2r99
|
UTSW |
17 |
19,598,372 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7060:Vmn2r99
|
UTSW |
17 |
19,614,826 (GRCm39) |
nonsense |
probably null |
|
|
R7090:Vmn2r99
|
UTSW |
17 |
19,613,972 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7094:Vmn2r99
|
UTSW |
17 |
19,599,573 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7449:Vmn2r99
|
UTSW |
17 |
19,599,407 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7789:Vmn2r99
|
UTSW |
17 |
19,614,079 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8039:Vmn2r99
|
UTSW |
17 |
19,600,302 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8493:Vmn2r99
|
UTSW |
17 |
19,614,020 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8511:Vmn2r99
|
UTSW |
17 |
19,614,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8715:Vmn2r99
|
UTSW |
17 |
19,613,922 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R9462:Vmn2r99
|
UTSW |
17 |
19,598,388 (GRCm39) |
nonsense |
probably null |
|
|
R9681:Vmn2r99
|
UTSW |
17 |
19,598,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9737:Vmn2r99
|
UTSW |
17 |
19,582,563 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Vmn2r99
|
UTSW |
17 |
19,599,563 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCCTAAGCTGTGGCATTTG -3'
(R):5'- ATTTGCTCCTGGTATCTTGTACATG -3'
Sequencing Primer
(F):5'- GTCATGTGTTGGAAAACTGTCAAACC -3'
(R):5'- GCTCCTGGTATCTTGTACATGATTTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation