Incidental Mutation 'R3949:Vmn2r99'
| ID |
307839 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r99
|
| Ensembl Gene |
ENSMUSG00000090304 |
| Gene Name |
vomeronasal 2, receptor 99 |
| Synonyms |
EG665376 |
| MMRRC Submission |
040929-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R3949 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
19361949-19401098 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 19378990 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 312
(M312T)
|
| 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: M312T
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000135236
Gene: ENSMUSG00000090304
AA Change: M312T
| 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: M312T
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb2 |
A |
T |
13: 8,570,419 (GRCm38) |
M314L |
probably damaging |
Het |
| Apcs |
A |
G |
1: 172,894,692 (GRCm38) |
F29S |
probably damaging |
Het |
| Arfgef1 |
CAGAG |
CAG |
1: 10,142,586 (GRCm38) |
|
probably null |
Het |
| Avl9 |
T |
C |
6: 56,728,665 (GRCm38) |
|
probably null |
Het |
| Ccdc38 |
A |
G |
10: 93,550,219 (GRCm38) |
M66V |
probably damaging |
Het |
| Cfap46 |
T |
C |
7: 139,678,551 (GRCm38) |
K269E |
probably benign |
Het |
| Chrdl2 |
A |
C |
7: 100,029,205 (GRCm38) |
E328A |
possibly damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,257,368 (GRCm38) |
N421S |
probably benign |
Het |
| Dbndd1 |
G |
T |
8: 123,506,734 (GRCm38) |
Q207K |
probably benign |
Het |
| Disc1 |
A |
G |
8: 125,088,135 (GRCm38) |
E246G |
probably damaging |
Het |
| Dyrk4 |
A |
G |
6: 126,885,305 (GRCm38) |
I408T |
probably damaging |
Het |
| Entpd7 |
G |
A |
19: 43,691,158 (GRCm38) |
R50Q |
probably benign |
Het |
| Fan1 |
C |
A |
7: 64,371,544 (GRCm38) |
E591* |
probably null |
Het |
| Fpr1 |
C |
A |
17: 17,876,929 (GRCm38) |
C266F |
probably benign |
Het |
| Gata4 |
C |
T |
14: 63,240,697 (GRCm38) |
R151H |
possibly damaging |
Het |
| Gipr |
T |
C |
7: 19,157,429 (GRCm38) |
N441S |
probably benign |
Het |
| Ino80d |
G |
T |
1: 63,074,503 (GRCm38) |
Q263K |
probably benign |
Het |
| Ipo13 |
A |
G |
4: 117,901,042 (GRCm38) |
I708T |
probably benign |
Het |
| Iqsec3 |
A |
T |
6: 121,387,824 (GRCm38) |
Y835* |
probably null |
Het |
| Kctd8 |
C |
T |
5: 69,341,274 (GRCm38) |
G10S |
probably benign |
Het |
| Lamb1 |
A |
C |
12: 31,282,649 (GRCm38) |
K257Q |
probably damaging |
Het |
| Lcp1 |
A |
G |
14: 75,206,129 (GRCm38) |
N195S |
possibly damaging |
Het |
| Or4k48 |
A |
T |
2: 111,645,526 (GRCm38) |
I157K |
possibly damaging |
Het |
| Or5b121 |
T |
C |
19: 13,530,020 (GRCm38) |
S160P |
probably damaging |
Het |
| Paxbp1 |
T |
C |
16: 91,044,017 (GRCm38) |
D113G |
probably damaging |
Het |
| Pcdhb7 |
T |
C |
18: 37,343,088 (GRCm38) |
S426P |
probably benign |
Het |
| Pcnx4 |
A |
G |
12: 72,556,302 (GRCm38) |
D446G |
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,578,037 (GRCm38) |
|
probably benign |
Het |
| Pld2 |
A |
G |
11: 70,553,354 (GRCm38) |
D492G |
probably benign |
Het |
| Ranbp17 |
G |
A |
11: 33,479,189 (GRCm38) |
A352V |
probably benign |
Het |
| Rasgrf1 |
A |
C |
9: 89,981,744 (GRCm38) |
|
probably benign |
Het |
| Ryr3 |
C |
G |
2: 112,675,873 (GRCm38) |
R3443P |
probably damaging |
Het |
| Serpinb10 |
T |
A |
1: 107,540,906 (GRCm38) |
L170H |
probably damaging |
Het |
| Sfxn4 |
A |
G |
19: 60,852,063 (GRCm38) |
Y165H |
probably damaging |
Het |
| Slc32a1 |
C |
T |
2: 158,611,232 (GRCm38) |
|
probably benign |
Het |
| Slco5a1 |
A |
T |
1: 12,989,609 (GRCm38) |
V296D |
probably damaging |
Het |
| Syn2 |
T |
A |
6: 115,227,329 (GRCm38) |
|
probably null |
Het |
| Tbx2 |
C |
T |
11: 85,838,275 (GRCm38) |
Q495* |
probably null |
Het |
| Trav6-1 |
G |
A |
14: 52,638,536 (GRCm38) |
V8M |
probably benign |
Het |
| Usp7 |
A |
T |
16: 8,716,564 (GRCm38) |
N46K |
probably damaging |
Het |
| Vmn2r58 |
A |
T |
7: 41,863,924 (GRCm38) |
F432I |
probably benign |
Het |
| Washc2 |
T |
C |
6: 116,208,204 (GRCm38) |
|
probably benign |
Het |
| Yju2b |
A |
G |
8: 84,258,824 (GRCm38) |
V272A |
probably benign |
Het |
|
| Other mutations in Vmn2r99 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00503:Vmn2r99
|
APN |
17 |
19,378,854 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01113:Vmn2r99
|
APN |
17 |
19,394,256 (GRCm38) |
missense |
probably benign |
0.20 |
|
IGL01138:Vmn2r99
|
APN |
17 |
19,382,623 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01646:Vmn2r99
|
APN |
17 |
19,393,658 (GRCm38) |
splice site |
probably benign |
|
|
IGL01769:Vmn2r99
|
APN |
17 |
19,380,115 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02112:Vmn2r99
|
APN |
17 |
19,380,232 (GRCm38) |
missense |
probably null |
0.99 |
|
IGL02891:Vmn2r99
|
APN |
17 |
19,378,690 (GRCm38) |
nonsense |
probably null |
|
|
IGL03132:Vmn2r99
|
APN |
17 |
19,378,223 (GRCm38) |
nonsense |
probably null |
|
|
FR4548:Vmn2r99
|
UTSW |
17 |
19,394,285 (GRCm38) |
missense |
probably damaging |
0.97 |
|
FR4976:Vmn2r99
|
UTSW |
17 |
19,394,285 (GRCm38) |
missense |
probably damaging |
0.97 |
|
PIT4382001:Vmn2r99
|
UTSW |
17 |
19,394,343 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0196:Vmn2r99
|
UTSW |
17 |
19,394,573 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0720:Vmn2r99
|
UTSW |
17 |
19,379,043 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1501:Vmn2r99
|
UTSW |
17 |
19,362,259 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1519:Vmn2r99
|
UTSW |
17 |
19,380,060 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1670:Vmn2r99
|
UTSW |
17 |
19,362,252 (GRCm38) |
missense |
probably benign |
0.37 |
|
R1682:Vmn2r99
|
UTSW |
17 |
19,377,945 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1873:Vmn2r99
|
UTSW |
17 |
19,362,153 (GRCm38) |
missense |
probably benign |
0.25 |
|
R1967:Vmn2r99
|
UTSW |
17 |
19,378,815 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2101:Vmn2r99
|
UTSW |
17 |
19,377,991 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2474:Vmn2r99
|
UTSW |
17 |
19,378,629 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2519:Vmn2r99
|
UTSW |
17 |
19,378,708 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3911:Vmn2r99
|
UTSW |
17 |
19,394,373 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R3947:Vmn2r99
|
UTSW |
17 |
19,378,990 (GRCm38) |
missense |
probably benign |
0.40 |
|
R4016:Vmn2r99
|
UTSW |
17 |
19,378,570 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4413:Vmn2r99
|
UTSW |
17 |
19,379,260 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4594:Vmn2r99
|
UTSW |
17 |
19,393,662 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4999:Vmn2r99
|
UTSW |
17 |
19,362,135 (GRCm38) |
start codon destroyed |
probably null |
0.96 |
|
R5206:Vmn2r99
|
UTSW |
17 |
19,378,606 (GRCm38) |
missense |
probably benign |
0.40 |
|
R5362:Vmn2r99
|
UTSW |
17 |
19,379,339 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5377:Vmn2r99
|
UTSW |
17 |
19,379,269 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5455:Vmn2r99
|
UTSW |
17 |
19,394,146 (GRCm38) |
nonsense |
probably null |
|
|
R6021:Vmn2r99
|
UTSW |
17 |
19,377,948 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6059:Vmn2r99
|
UTSW |
17 |
19,378,980 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6214:Vmn2r99
|
UTSW |
17 |
19,382,558 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6215:Vmn2r99
|
UTSW |
17 |
19,382,558 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6313:Vmn2r99
|
UTSW |
17 |
19,382,605 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6646:Vmn2r99
|
UTSW |
17 |
19,380,031 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6810:Vmn2r99
|
UTSW |
17 |
19,380,034 (GRCm38) |
missense |
probably benign |
0.20 |
|
R6885:Vmn2r99
|
UTSW |
17 |
19,380,195 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R6991:Vmn2r99
|
UTSW |
17 |
19,378,110 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7060:Vmn2r99
|
UTSW |
17 |
19,394,564 (GRCm38) |
nonsense |
probably null |
|
|
R7090:Vmn2r99
|
UTSW |
17 |
19,393,710 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R7094:Vmn2r99
|
UTSW |
17 |
19,379,311 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7449:Vmn2r99
|
UTSW |
17 |
19,379,145 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7789:Vmn2r99
|
UTSW |
17 |
19,393,817 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R8039:Vmn2r99
|
UTSW |
17 |
19,380,040 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8493:Vmn2r99
|
UTSW |
17 |
19,393,758 (GRCm38) |
missense |
probably benign |
0.15 |
|
R8511:Vmn2r99
|
UTSW |
17 |
19,394,181 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8715:Vmn2r99
|
UTSW |
17 |
19,393,660 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R9462:Vmn2r99
|
UTSW |
17 |
19,378,126 (GRCm38) |
nonsense |
probably null |
|
|
R9681:Vmn2r99
|
UTSW |
17 |
19,378,627 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9737:Vmn2r99
|
UTSW |
17 |
19,362,301 (GRCm38) |
missense |
probably benign |
|
|
Z1088:Vmn2r99
|
UTSW |
17 |
19,379,301 (GRCm38) |
missense |
probably benign |
0.18 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCACATGGACTTCATATTTTGC -3'
(R):5'- ACCCATCAAATATGTGACGAGG -3'
Sequencing Primer
(F):5'- TGCCAAATTCTGGGAAAATATGG -3'
(R):5'- CATCCAAAGAAGCATTGGTTTGACAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation