Incidental Mutation 'R0720:Vmn2r99'
| ID |
63531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r99
|
| Ensembl Gene |
ENSMUSG00000090304 |
| Gene Name |
vomeronasal 2, receptor 99 |
| Synonyms |
EG665376 |
| MMRRC Submission |
038902-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R0720 (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 19599305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 330
(F330I)
|
| 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: F330I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135236
Gene: ENSMUSG00000090304
AA Change: F330I
| 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: F330I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 95.9%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
A |
G |
17: 43,024,063 (GRCm39) |
I136T |
probably damaging |
Het |
| Bbs7 |
T |
C |
3: 36,646,572 (GRCm39) |
D416G |
probably damaging |
Het |
| Commd4 |
G |
T |
9: 57,062,718 (GRCm39) |
D179E |
probably benign |
Het |
| Cyp3a57 |
T |
C |
5: 145,327,213 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,314,007 (GRCm39) |
N1941S |
probably null |
Het |
| Dynap |
T |
C |
18: 70,374,055 (GRCm39) |
D157G |
unknown |
Het |
| Entrep2 |
A |
G |
7: 64,469,658 (GRCm39) |
|
probably benign |
Het |
| Eri3 |
T |
C |
4: 117,410,242 (GRCm39) |
|
probably null |
Het |
| Fbxo25 |
A |
G |
8: 13,985,222 (GRCm39) |
Y305C |
probably damaging |
Het |
| Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
| Fxr2 |
A |
G |
11: 69,530,241 (GRCm39) |
D36G |
probably benign |
Het |
| Gas2l3 |
T |
C |
10: 89,249,805 (GRCm39) |
T438A |
probably benign |
Het |
| Gcm1 |
A |
T |
9: 77,971,923 (GRCm39) |
Y288F |
possibly damaging |
Het |
| Gm3164 |
C |
A |
14: 4,442,719 (GRCm38) |
S218R |
probably benign |
Het |
| Hipk2 |
C |
T |
6: 38,675,491 (GRCm39) |
R1029H |
probably damaging |
Het |
| Htra3 |
T |
C |
5: 35,811,453 (GRCm39) |
I392M |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,840,515 (GRCm39) |
M262V |
possibly damaging |
Het |
| Lrrc47 |
T |
C |
4: 154,104,344 (GRCm39) |
|
probably null |
Het |
| Macf1 |
A |
T |
4: 123,326,718 (GRCm39) |
N4926K |
probably damaging |
Het |
| Mllt10 |
T |
C |
2: 18,201,406 (GRCm39) |
S631P |
probably benign |
Het |
| Nlrp14 |
A |
G |
7: 106,781,220 (GRCm39) |
H139R |
probably benign |
Het |
| Or1e34 |
T |
A |
11: 73,778,688 (GRCm39) |
N170I |
probably benign |
Het |
| Or5w20 |
A |
T |
2: 87,727,013 (GRCm39) |
T157S |
probably benign |
Het |
| Ptger2 |
T |
C |
14: 45,226,590 (GRCm39) |
C57R |
probably benign |
Het |
| Rhot1 |
T |
C |
11: 80,114,769 (GRCm39) |
V59A |
probably damaging |
Het |
| Rmdn2 |
G |
A |
17: 79,975,458 (GRCm39) |
|
probably null |
Het |
| Rxfp2 |
G |
T |
5: 149,967,584 (GRCm39) |
K148N |
probably benign |
Het |
| Sec23a |
G |
A |
12: 59,018,057 (GRCm39) |
T623M |
probably damaging |
Het |
| Smcr8 |
T |
C |
11: 60,669,269 (GRCm39) |
L139P |
probably damaging |
Het |
| Spag6l |
A |
T |
16: 16,584,960 (GRCm39) |
|
probably benign |
Het |
| Taar1 |
T |
C |
10: 23,796,971 (GRCm39) |
I223T |
probably damaging |
Het |
| Tdo2 |
G |
T |
3: 81,870,065 (GRCm39) |
A269E |
probably damaging |
Het |
| Tnfsf18 |
A |
G |
1: 161,331,156 (GRCm39) |
Y102C |
possibly damaging |
Het |
| Tns1 |
A |
G |
1: 73,964,740 (GRCm39) |
L1297P |
probably benign |
Het |
| Txndc8 |
C |
T |
4: 57,984,245 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
T |
C |
15: 37,973,235 (GRCm39) |
N2622S |
probably damaging |
Het |
| Zdhhc2 |
T |
A |
8: 40,925,948 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- CGCCACATGGACTTCATATTTTGCC -3'
(R):5'- GTTGTTGCAAATCCCTCATGCCAG -3'
Sequencing Primer
(F):5'- TGCCAAATTCTGGGAAAATATGG -3'
(R):5'- GCTGAATTCTCATCTCATGGAGAC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation