Incidental Mutation 'R4258:Vmn2r2'
| ID |
321887 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r2
|
| Ensembl Gene |
ENSMUSG00000043897 |
| Gene Name |
vomeronasal 2, receptor 2 |
| Synonyms |
|
| MMRRC Submission |
041071-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R4258 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
64022699-64049349 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 64042118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 199
(D199A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135110
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077958]
[ENSMUST00000177151]
|
| AlphaFold |
L7N2E9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077958
AA Change: D115A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000077109
Gene: ENSMUSG00000043897
AA Change: D115A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
1 |
416 |
4.5e-80 |
PFAM |
|
Pfam:NCD3G
|
458 |
511 |
8.3e-18 |
PFAM |
|
Pfam:7tm_3
|
542 |
779 |
1.3e-75 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177151
AA Change: D199A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135110
Gene: ENSMUSG00000043897
AA Change: D199A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
83 |
500 |
1.6e-84 |
PFAM |
|
Pfam:NCD3G
|
542 |
595 |
2.6e-17 |
PFAM |
|
Pfam:7tm_3
|
628 |
862 |
1.9e-47 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
95% (60/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932415M13Rik |
T |
A |
17: 54,031,441 (GRCm39) |
|
noncoding transcript |
Het |
| Ank3 |
T |
C |
10: 69,840,592 (GRCm39) |
I984T |
probably benign |
Het |
| Arnt2 |
T |
C |
7: 83,960,163 (GRCm39) |
T204A |
probably damaging |
Het |
| Arsi |
T |
C |
18: 61,050,388 (GRCm39) |
W424R |
probably damaging |
Het |
| Aspg |
A |
T |
12: 112,087,687 (GRCm39) |
N346I |
probably benign |
Het |
| Brdt |
A |
G |
5: 107,507,775 (GRCm39) |
S668G |
probably damaging |
Het |
| Ccdc178 |
C |
T |
18: 22,150,392 (GRCm39) |
|
probably null |
Het |
| Cfap58 |
A |
T |
19: 47,937,923 (GRCm39) |
|
probably null |
Het |
| Chaf1a |
C |
A |
17: 56,363,474 (GRCm39) |
H319Q |
unknown |
Het |
| Colec12 |
T |
C |
18: 9,720,950 (GRCm39) |
S13P |
probably damaging |
Het |
| Cpne9 |
C |
T |
6: 113,259,984 (GRCm39) |
|
probably benign |
Het |
| Cyp2c65 |
A |
C |
19: 39,081,872 (GRCm39) |
D466A |
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,928,248 (GRCm39) |
K266E |
probably damaging |
Het |
| Dennd1b |
G |
T |
1: 138,990,678 (GRCm39) |
R214L |
probably damaging |
Het |
| Dock9 |
T |
C |
14: 121,818,854 (GRCm39) |
I1533V |
probably benign |
Het |
| Dynlt1a |
C |
T |
17: 6,361,184 (GRCm39) |
M102I |
probably benign |
Het |
| Edil3 |
G |
T |
13: 89,325,272 (GRCm39) |
L220F |
probably damaging |
Het |
| Eml5 |
A |
G |
12: 98,831,693 (GRCm39) |
Y383H |
probably benign |
Het |
| Epc1 |
T |
A |
18: 6,450,130 (GRCm39) |
T393S |
probably benign |
Het |
| Fbxo8 |
A |
T |
8: 57,041,076 (GRCm39) |
D164V |
probably benign |
Het |
| Gbp4 |
T |
A |
5: 105,284,841 (GRCm39) |
N16I |
probably damaging |
Het |
| Gdf6 |
G |
A |
4: 9,844,877 (GRCm39) |
V134I |
probably damaging |
Het |
| Gm5475 |
A |
G |
15: 100,322,117 (GRCm39) |
|
probably benign |
Het |
| Gm6430 |
T |
G |
1: 96,952,561 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv9-4 |
A |
T |
12: 114,263,765 (GRCm39) |
V56E |
probably damaging |
Het |
| Il3ra |
A |
T |
14: 14,347,961 (GRCm38) |
N36Y |
probably damaging |
Het |
| Kif7 |
G |
T |
7: 79,360,261 (GRCm39) |
C325* |
probably null |
Het |
| Lipo2 |
A |
T |
19: 33,708,328 (GRCm39) |
F229I |
possibly damaging |
Het |
| Lrba |
A |
G |
3: 86,352,656 (GRCm39) |
K1935E |
probably damaging |
Het |
| Mki67 |
A |
T |
7: 135,297,017 (GRCm39) |
D2672E |
possibly damaging |
Het |
| Mtf1 |
A |
G |
4: 124,732,576 (GRCm39) |
T545A |
probably benign |
Het |
| Mup6 |
A |
T |
4: 60,004,812 (GRCm39) |
|
probably null |
Het |
| Myo9b |
T |
C |
8: 71,808,409 (GRCm39) |
V1672A |
probably damaging |
Het |
| Nudt16l2 |
T |
C |
9: 105,020,767 (GRCm39) |
I165V |
probably damaging |
Het |
| Or10al6 |
C |
A |
17: 38,082,949 (GRCm39) |
P135Q |
probably damaging |
Het |
| Or10j5 |
C |
T |
1: 172,785,205 (GRCm39) |
T281I |
possibly damaging |
Het |
| Or4k36 |
A |
T |
2: 111,145,983 (GRCm39) |
H53L |
probably benign |
Het |
| Or5d37 |
T |
A |
2: 87,923,362 (GRCm39) |
N306I |
probably damaging |
Het |
| Pcdhgb2 |
A |
T |
18: 37,825,102 (GRCm39) |
I698F |
probably damaging |
Het |
| Pkn3 |
C |
T |
2: 29,978,572 (GRCm39) |
H665Y |
probably damaging |
Het |
| Ppil6 |
T |
A |
10: 41,383,531 (GRCm39) |
L99* |
probably null |
Het |
| Psg22 |
T |
A |
7: 18,458,554 (GRCm39) |
V376E |
probably damaging |
Het |
| Pum1 |
G |
A |
4: 130,457,591 (GRCm39) |
R201H |
probably damaging |
Het |
| Rasa2 |
A |
T |
9: 96,439,433 (GRCm39) |
|
probably benign |
Het |
| Schip1 |
T |
A |
3: 68,525,963 (GRCm39) |
M379K |
possibly damaging |
Het |
| Scn9a |
A |
T |
2: 66,395,398 (GRCm39) |
|
probably benign |
Het |
| Sh3tc1 |
C |
T |
5: 35,864,322 (GRCm39) |
A622T |
probably benign |
Het |
| Smarcd2 |
A |
T |
11: 106,156,076 (GRCm39) |
I292N |
probably damaging |
Het |
| Ssxb17 |
C |
T |
X: 21,041,167 (GRCm39) |
S45N |
probably damaging |
Het |
| Stab1 |
G |
A |
14: 30,876,629 (GRCm39) |
R862C |
possibly damaging |
Het |
| Tdrd5 |
T |
A |
1: 156,087,312 (GRCm39) |
H870L |
probably benign |
Het |
| Tnfaip8 |
A |
G |
18: 50,223,443 (GRCm39) |
R60G |
possibly damaging |
Het |
| Traf3ip3 |
C |
T |
1: 192,880,254 (GRCm39) |
R25Q |
probably damaging |
Het |
| Unc5b |
T |
C |
10: 60,601,150 (GRCm39) |
Y892C |
probably damaging |
Het |
| Washc2 |
C |
A |
6: 116,185,202 (GRCm39) |
P12Q |
probably damaging |
Het |
| Zfp286 |
T |
C |
11: 62,671,896 (GRCm39) |
I121V |
probably benign |
Het |
| Zfp606 |
T |
A |
7: 12,228,267 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Vmn2r2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00326:Vmn2r2
|
APN |
3 |
64,041,319 (GRCm39) |
splice site |
probably benign |
|
|
IGL00980:Vmn2r2
|
APN |
3 |
64,024,601 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01389:Vmn2r2
|
APN |
3 |
64,024,430 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01804:Vmn2r2
|
APN |
3 |
64,041,677 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02750:Vmn2r2
|
APN |
3 |
64,024,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02829:Vmn2r2
|
APN |
3 |
64,026,172 (GRCm39) |
splice site |
probably benign |
|
|
IGL03036:Vmn2r2
|
APN |
3 |
64,024,321 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03174:Vmn2r2
|
APN |
3 |
64,024,544 (GRCm39) |
nonsense |
probably null |
|
|
PIT4151001:Vmn2r2
|
UTSW |
3 |
64,024,334 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0029:Vmn2r2
|
UTSW |
3 |
64,024,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0310:Vmn2r2
|
UTSW |
3 |
64,042,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0357:Vmn2r2
|
UTSW |
3 |
64,041,320 (GRCm39) |
splice site |
probably null |
|
|
R0637:Vmn2r2
|
UTSW |
3 |
64,033,999 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1626:Vmn2r2
|
UTSW |
3 |
64,041,921 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1662:Vmn2r2
|
UTSW |
3 |
64,024,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1710:Vmn2r2
|
UTSW |
3 |
64,024,820 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1797:Vmn2r2
|
UTSW |
3 |
64,042,128 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1862:Vmn2r2
|
UTSW |
3 |
64,041,942 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1971:Vmn2r2
|
UTSW |
3 |
64,034,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2051:Vmn2r2
|
UTSW |
3 |
64,024,766 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2099:Vmn2r2
|
UTSW |
3 |
64,024,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2275:Vmn2r2
|
UTSW |
3 |
64,023,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3078:Vmn2r2
|
UTSW |
3 |
64,042,053 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3418:Vmn2r2
|
UTSW |
3 |
64,024,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3419:Vmn2r2
|
UTSW |
3 |
64,024,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3959:Vmn2r2
|
UTSW |
3 |
64,047,947 (GRCm39) |
missense |
probably benign |
|
|
R4230:Vmn2r2
|
UTSW |
3 |
64,041,912 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4810:Vmn2r2
|
UTSW |
3 |
64,044,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4822:Vmn2r2
|
UTSW |
3 |
64,041,960 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4919:Vmn2r2
|
UTSW |
3 |
64,024,578 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4925:Vmn2r2
|
UTSW |
3 |
64,044,892 (GRCm39) |
start codon destroyed |
probably null |
0.03 |
|
R4954:Vmn2r2
|
UTSW |
3 |
64,047,905 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5071:Vmn2r2
|
UTSW |
3 |
64,024,321 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5315:Vmn2r2
|
UTSW |
3 |
64,024,377 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5450:Vmn2r2
|
UTSW |
3 |
64,034,011 (GRCm39) |
missense |
probably benign |
|
|
R5577:Vmn2r2
|
UTSW |
3 |
64,024,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5595:Vmn2r2
|
UTSW |
3 |
64,034,036 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5727:Vmn2r2
|
UTSW |
3 |
64,024,608 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5810:Vmn2r2
|
UTSW |
3 |
64,024,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5919:Vmn2r2
|
UTSW |
3 |
64,044,723 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6052:Vmn2r2
|
UTSW |
3 |
64,024,782 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6084:Vmn2r2
|
UTSW |
3 |
64,024,467 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6299:Vmn2r2
|
UTSW |
3 |
64,024,074 (GRCm39) |
nonsense |
probably null |
|
|
R6762:Vmn2r2
|
UTSW |
3 |
64,041,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6858:Vmn2r2
|
UTSW |
3 |
64,044,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6889:Vmn2r2
|
UTSW |
3 |
64,024,688 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6990:Vmn2r2
|
UTSW |
3 |
64,024,608 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7195:Vmn2r2
|
UTSW |
3 |
64,023,900 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7269:Vmn2r2
|
UTSW |
3 |
64,033,998 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7699:Vmn2r2
|
UTSW |
3 |
64,024,536 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7717:Vmn2r2
|
UTSW |
3 |
64,042,019 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7798:Vmn2r2
|
UTSW |
3 |
64,041,518 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7914:Vmn2r2
|
UTSW |
3 |
64,041,526 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7974:Vmn2r2
|
UTSW |
3 |
64,024,808 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8394:Vmn2r2
|
UTSW |
3 |
64,044,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8478:Vmn2r2
|
UTSW |
3 |
64,024,257 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8731:Vmn2r2
|
UTSW |
3 |
64,024,404 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9035:Vmn2r2
|
UTSW |
3 |
64,024,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9182:Vmn2r2
|
UTSW |
3 |
64,044,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9225:Vmn2r2
|
UTSW |
3 |
64,034,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9266:Vmn2r2
|
UTSW |
3 |
64,024,057 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9427:Vmn2r2
|
UTSW |
3 |
64,041,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9659:Vmn2r2
|
UTSW |
3 |
64,041,942 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9666:Vmn2r2
|
UTSW |
3 |
64,023,870 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9771:Vmn2r2
|
UTSW |
3 |
64,042,079 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9788:Vmn2r2
|
UTSW |
3 |
64,041,942 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
X0024:Vmn2r2
|
UTSW |
3 |
64,044,707 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACAATGACTTTGGCAGTGGAAC -3'
(R):5'- AAGTATTGGTCAGCTTCCTCC -3'
Sequencing Primer
(F):5'- TTGCATTTTCTCATTGGAGTAGAC -3'
(R):5'- GCTTCCTCCCTTTCAATATTCTGAAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation