Incidental Mutation 'R4594:Vmn2r99'
| ID |
386445 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r99
|
| Ensembl Gene |
ENSMUSG00000090304 |
| Gene Name |
vomeronasal 2, receptor 99 |
| Synonyms |
EG665376 |
| MMRRC Submission |
041810-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R4594 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
19361949-19401098 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 19393662 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 548
(D548V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135236
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176107]
[ENSMUST00000231989]
|
| AlphaFold |
H3BK37 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176107
AA Change: D548V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135236
Gene: ENSMUSG00000090304
AA Change: D548V
| 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 |
unknown
Transcript: ENSMUST00000231989
AA Change: R590S
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
G |
5: 3,575,754 |
T64A |
probably damaging |
Het |
| 4933427I04Rik |
A |
T |
4: 123,860,538 |
T82S |
possibly damaging |
Het |
| Adamts15 |
A |
T |
9: 30,921,447 |
I264N |
probably damaging |
Het |
| Alpk1 |
G |
A |
3: 127,683,554 |
A285V |
probably damaging |
Het |
| Auh |
T |
C |
13: 52,912,966 |
|
probably benign |
Het |
| BC030499 |
T |
A |
11: 78,291,647 |
V94D |
possibly damaging |
Het |
| Cacna2d3 |
A |
G |
14: 28,982,346 |
F826S |
probably benign |
Het |
| Ccdc54 |
G |
T |
16: 50,590,017 |
Y295* |
probably null |
Het |
| Ctnna3 |
G |
A |
10: 64,586,079 |
V551I |
probably benign |
Het |
| Diaph3 |
C |
T |
14: 86,986,037 |
C347Y |
probably damaging |
Het |
| Dnajb5 |
A |
G |
4: 42,950,842 |
|
probably benign |
Het |
| Dscam |
A |
T |
16: 96,717,996 |
I847K |
possibly damaging |
Het |
| Fam8a1 |
T |
C |
13: 46,671,266 |
F243S |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,284,752 |
I1712V |
possibly damaging |
Het |
| Fgfr1 |
T |
C |
8: 25,573,836 |
V793A |
probably damaging |
Het |
| Got2 |
T |
C |
8: 95,872,186 |
E196G |
probably benign |
Het |
| Gsk3b |
G |
A |
16: 38,170,701 |
C107Y |
possibly damaging |
Het |
| H2-M5 |
T |
C |
17: 36,987,805 |
T250A |
possibly damaging |
Het |
| Il17f |
T |
A |
1: 20,777,802 |
T151S |
probably damaging |
Het |
| Ints12 |
A |
G |
3: 133,108,868 |
N279D |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,658,766 |
A421V |
probably damaging |
Het |
| Kynu |
T |
A |
2: 43,679,890 |
S395T |
probably benign |
Het |
| Llgl1 |
C |
T |
11: 60,706,321 |
T226I |
probably benign |
Het |
| Mael |
T |
A |
1: 166,235,487 |
Q132L |
probably damaging |
Het |
| Mcpt1 |
A |
T |
14: 56,018,652 |
R49S |
probably benign |
Het |
| Meioc |
G |
T |
11: 102,674,166 |
G203C |
probably damaging |
Het |
| Mfsd4b1 |
A |
G |
10: 40,007,317 |
S46P |
probably benign |
Het |
| Muc6 |
G |
T |
7: 141,638,772 |
T1996N |
possibly damaging |
Het |
| Mx2 |
C |
A |
16: 97,547,432 |
Y268* |
probably null |
Het |
| Myom1 |
A |
G |
17: 71,100,074 |
D1064G |
possibly damaging |
Het |
| Nek11 |
A |
G |
9: 105,392,847 |
|
probably null |
Het |
| Nfe2 |
A |
G |
15: 103,248,805 |
L253S |
probably damaging |
Het |
| Nup205 |
T |
C |
6: 35,196,489 |
I478T |
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,319,482 |
D529G |
probably damaging |
Het |
| Oard1 |
T |
C |
17: 48,415,239 |
S88P |
possibly damaging |
Het |
| Olfr1370 |
C |
T |
13: 21,072,522 |
V260I |
probably benign |
Het |
| Olfr231 |
G |
T |
1: 174,117,320 |
T232N |
probably damaging |
Het |
| Olfr639 |
T |
C |
7: 104,012,417 |
D95G |
probably benign |
Het |
| Olfr678 |
T |
C |
7: 105,069,590 |
V41A |
probably benign |
Het |
| Olfr732 |
G |
A |
14: 50,281,683 |
T190I |
probably benign |
Het |
| Olfr741 |
A |
G |
14: 50,486,162 |
R235G |
probably benign |
Het |
| Olfr906 |
A |
C |
9: 38,488,761 |
H244P |
probably damaging |
Het |
| Osgin1 |
C |
T |
8: 119,445,253 |
T262I |
possibly damaging |
Het |
| Plcb4 |
A |
T |
2: 136,002,599 |
M146L |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,767,966 |
E2456V |
possibly damaging |
Het |
| Ptk2 |
G |
A |
15: 73,206,196 |
A1004V |
probably damaging |
Het |
| Rab15 |
G |
A |
12: 76,800,671 |
|
probably benign |
Het |
| Rad51ap2 |
T |
C |
12: 11,457,880 |
V601A |
probably benign |
Het |
| Rasef |
T |
A |
4: 73,780,389 |
I12F |
possibly damaging |
Het |
| Rdh14 |
T |
A |
12: 10,394,567 |
N139K |
probably damaging |
Het |
| Rexo2 |
A |
T |
9: 48,480,417 |
V46E |
probably damaging |
Het |
| Slmap |
A |
T |
14: 26,465,617 |
L68H |
probably damaging |
Het |
| Speer3 |
C |
G |
5: 13,796,380 |
A238G |
possibly damaging |
Het |
| Tmem132e |
T |
C |
11: 82,435,068 |
I206T |
possibly damaging |
Het |
| Trappc8 |
A |
T |
18: 20,836,948 |
V995E |
probably benign |
Het |
| Vmn2r12 |
A |
C |
5: 109,086,435 |
I637S |
probably damaging |
Het |
| Vmn2r124 |
T |
C |
17: 18,073,969 |
F773L |
probably damaging |
Het |
| Wdr81 |
T |
C |
11: 75,445,794 |
N1590D |
probably benign |
Het |
| Zbtb6 |
A |
T |
2: 37,429,042 |
N291K |
possibly damaging |
Het |
| Zfp119a |
G |
A |
17: 55,866,325 |
R173C |
probably benign |
Het |
| Zmynd15 |
T |
C |
11: 70,464,182 |
L335P |
probably damaging |
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 |
|
R3949: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 |
|
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'- TAAAGAACAAGGAGCAGTCTCTAAC -3'
(R):5'- ACTCAGAGCTCGATTATTTGCC -3'
Sequencing Primer
(F):5'- CAAGGAGCAGTCTCTAACTCTAG -3'
(R):5'- CCTTAACAATAGGAGTGTCTCTGTGC -3'
|
| Posted On |
2016-06-01 |
Incidental Mutation