Incidental Mutation 'R4413:Vmn2r99'
ID |
328035 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r99
|
Ensembl Gene |
ENSMUSG00000090304 |
Gene Name |
vomeronasal 2, receptor 99 |
Synonyms |
EG665376 |
MMRRC Submission |
041136-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.122)
|
Stock # |
R4413 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
19582397-19614852 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 19599522 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 402
(V402E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156067
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176107]
[ENSMUST00000231989]
|
AlphaFold |
H3BK37 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176107
AA Change: V402E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135236 Gene: ENSMUSG00000090304 AA Change: V402E
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 damaging
Transcript: ENSMUST00000231989
AA Change: V402E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
93% (42/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adprhl1 |
T |
C |
8: 13,296,114 (GRCm39) |
K144E |
probably benign |
Het |
Bcdin3d |
A |
G |
15: 99,368,614 (GRCm39) |
L195P |
probably damaging |
Het |
Bltp1 |
A |
G |
3: 37,012,830 (GRCm39) |
|
probably null |
Het |
Col11a1 |
T |
A |
3: 113,901,965 (GRCm39) |
S553R |
unknown |
Het |
Cp |
A |
T |
3: 20,020,517 (GRCm39) |
D170V |
probably damaging |
Het |
Dnah17 |
C |
T |
11: 117,915,994 (GRCm39) |
A4303T |
probably benign |
Het |
Dpp4 |
G |
A |
2: 62,217,484 (GRCm39) |
R38C |
possibly damaging |
Het |
Dusp6 |
C |
T |
10: 99,099,786 (GRCm39) |
T78M |
probably damaging |
Het |
Exoc1 |
A |
G |
5: 76,689,866 (GRCm39) |
|
probably benign |
Het |
Fbxl13 |
A |
T |
5: 21,787,051 (GRCm39) |
C295* |
probably null |
Het |
Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
Gstm4 |
T |
A |
3: 107,950,644 (GRCm39) |
D85V |
possibly damaging |
Het |
Hectd4 |
A |
G |
5: 121,488,544 (GRCm39) |
N3612D |
possibly damaging |
Het |
Izumo3 |
T |
C |
4: 92,035,136 (GRCm39) |
D27G |
probably damaging |
Het |
Kcna4 |
T |
A |
2: 107,125,718 (GRCm39) |
C151S |
probably benign |
Het |
Lrrc10 |
A |
G |
10: 116,881,719 (GRCm39) |
N131S |
probably damaging |
Het |
Madd |
A |
G |
2: 90,997,932 (GRCm39) |
S699P |
probably damaging |
Het |
Mcpt4 |
A |
T |
14: 56,297,993 (GRCm39) |
V186D |
probably damaging |
Het |
Mrgprx3-ps |
T |
C |
7: 46,959,746 (GRCm39) |
|
noncoding transcript |
Het |
Mrm1 |
G |
T |
11: 84,710,054 (GRCm39) |
R49S |
possibly damaging |
Het |
Nav2 |
T |
A |
7: 49,047,857 (GRCm39) |
N91K |
probably benign |
Het |
Noct |
C |
T |
3: 51,157,756 (GRCm39) |
R365W |
probably damaging |
Het |
Ntn1 |
C |
T |
11: 68,276,736 (GRCm39) |
G71S |
probably damaging |
Het |
Or10x1 |
T |
C |
1: 174,197,040 (GRCm39) |
S186P |
probably damaging |
Het |
Plekhg3 |
A |
C |
12: 76,624,538 (GRCm39) |
T1127P |
probably damaging |
Het |
Rhbdl2 |
A |
T |
4: 123,703,880 (GRCm39) |
M52L |
probably benign |
Het |
Saxo5 |
T |
A |
8: 3,533,529 (GRCm39) |
H278Q |
probably damaging |
Het |
Slc10a1 |
T |
C |
12: 81,004,906 (GRCm39) |
N212S |
probably benign |
Het |
Sohlh2 |
C |
A |
3: 55,104,423 (GRCm39) |
T264K |
probably damaging |
Het |
Srrm2 |
A |
G |
17: 24,029,442 (GRCm39) |
|
probably benign |
Het |
Syn3 |
C |
A |
10: 85,891,456 (GRCm39) |
|
probably benign |
Het |
Taf5 |
T |
A |
19: 47,059,453 (GRCm39) |
V199D |
probably damaging |
Het |
Tas2r136 |
C |
A |
6: 132,754,972 (GRCm39) |
V52L |
probably damaging |
Het |
Tnk2 |
C |
T |
16: 32,488,319 (GRCm39) |
R191C |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,556,120 (GRCm39) |
I21968T |
probably damaging |
Het |
Ubxn6 |
A |
T |
17: 56,376,303 (GRCm39) |
V311E |
probably damaging |
Het |
Usp7 |
C |
A |
16: 8,526,778 (GRCm39) |
D187Y |
probably damaging |
Het |
Vmn1r115 |
C |
T |
7: 20,578,207 (GRCm39) |
R235K |
probably benign |
Het |
Vmn2r50 |
A |
C |
7: 9,784,235 (GRCm39) |
F80V |
probably damaging |
Het |
Vmn2r58 |
T |
A |
7: 41,511,360 (GRCm39) |
K481M |
possibly damaging |
Het |
Vmn2r86 |
A |
G |
10: 130,288,469 (GRCm39) |
I344T |
possibly damaging |
Het |
Zfp462 |
A |
G |
4: 55,012,672 (GRCm39) |
D1546G |
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 |
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 |
R5362:Vmn2r99
|
UTSW |
17 |
19,599,601 (GRCm39) |
missense |
probably benign |
0.00 |
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'- GTCTGGATCATGAACATTGAACATC -3'
(R):5'- TGCTCCTGGTATCTTGTACATG -3'
Sequencing Primer
(F):5'- CCATGGAAGCCTAATTTTTAAGCAC -3'
(R):5'- GCTCCTGGTATCTTGTACATGATTTC -3'
|
Posted On |
2015-07-07 |