Incidental Mutation 'R9549:Vmn2r1'
| ID |
720289 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r1
|
| Ensembl Gene |
ENSMUSG00000027824 |
| Gene Name |
vomeronasal 2, receptor 1 |
| Synonyms |
V2r83, EG56544 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R9549 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
63988968-64016905 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63997493 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 383
(H383R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029406]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029406
AA Change: H383R
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000029406
Gene: ENSMUSG00000027824
AA Change: H383R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
86 |
504 |
6e-92 |
PFAM |
|
Pfam:NCD3G
|
546 |
599 |
2.4e-17 |
PFAM |
|
Pfam:7tm_3
|
632 |
866 |
4.1e-48 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,742,076 (GRCm39) |
Y491C |
probably damaging |
Het |
| B3gnt6 |
G |
T |
7: 97,843,656 (GRCm39) |
D101E |
possibly damaging |
Het |
| Bnip5 |
A |
T |
17: 29,124,647 (GRCm39) |
H9Q |
|
Het |
| Ccnt1 |
A |
G |
15: 98,441,574 (GRCm39) |
S565P |
probably damaging |
Het |
| Crebbp |
T |
C |
16: 3,903,111 (GRCm39) |
M2043V |
probably benign |
Het |
| Ehbp1 |
T |
G |
11: 22,012,788 (GRCm39) |
D941A |
probably benign |
Het |
| Fam171b |
G |
T |
2: 83,643,199 (GRCm39) |
R36L |
probably damaging |
Het |
| Fam83c |
T |
A |
2: 155,676,672 (GRCm39) |
I33L |
|
Het |
| Fbxo15 |
T |
C |
18: 84,980,805 (GRCm39) |
V260A |
possibly damaging |
Het |
| Fez1 |
G |
A |
9: 36,780,211 (GRCm39) |
G336E |
possibly damaging |
Het |
| Gm7579 |
CTGTGTG |
CTGTG |
7: 141,765,736 (GRCm39) |
|
probably null |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Isoc2a |
A |
G |
7: 4,895,058 (GRCm39) |
E162G |
probably damaging |
Het |
| Lrig2 |
A |
G |
3: 104,398,191 (GRCm39) |
S313P |
probably damaging |
Het |
| Lrrd1 |
T |
A |
5: 3,901,473 (GRCm39) |
S593T |
probably benign |
Het |
| Lrrn1 |
A |
G |
6: 107,545,978 (GRCm39) |
Y592C |
probably damaging |
Het |
| Map3k9 |
T |
C |
12: 81,771,255 (GRCm39) |
T778A |
probably benign |
Het |
| Mapk14 |
T |
A |
17: 28,934,415 (GRCm39) |
V102E |
probably damaging |
Het |
| Maz |
A |
G |
7: 126,625,578 (GRCm39) |
F5S |
unknown |
Het |
| Meioc |
C |
T |
11: 102,556,550 (GRCm39) |
|
probably benign |
Het |
| Mlec |
A |
G |
5: 115,288,271 (GRCm39) |
V195A |
probably benign |
Het |
| Mlh3 |
T |
C |
12: 85,313,249 (GRCm39) |
D979G |
probably benign |
Het |
| Mto1 |
G |
A |
9: 78,368,961 (GRCm39) |
S541N |
probably benign |
Het |
| Mug1 |
G |
A |
6: 121,858,762 (GRCm39) |
G1160E |
probably damaging |
Het |
| Nfkb2 |
T |
A |
19: 46,298,111 (GRCm39) |
I496N |
probably damaging |
Het |
| Nr1h5 |
T |
C |
3: 102,848,337 (GRCm39) |
D456G |
probably benign |
Het |
| Or5an11 |
T |
A |
19: 12,246,408 (GRCm39) |
F271L |
probably benign |
Het |
| Paqr5 |
A |
T |
9: 61,863,543 (GRCm39) |
C260S |
possibly damaging |
Het |
| Pip5k1b |
C |
A |
19: 24,356,413 (GRCm39) |
C175F |
probably damaging |
Het |
| Pkn1 |
T |
C |
8: 84,419,474 (GRCm39) |
E43G |
probably damaging |
Het |
| Pld1 |
G |
A |
3: 28,125,381 (GRCm39) |
E432K |
possibly damaging |
Het |
| Plekhb2 |
A |
G |
1: 34,902,552 (GRCm39) |
D64G |
probably benign |
Het |
| Plekhh3 |
T |
A |
11: 101,056,015 (GRCm39) |
|
probably null |
Het |
| Prex2 |
A |
T |
1: 11,256,915 (GRCm39) |
H1209L |
probably damaging |
Het |
| Rlf |
T |
C |
4: 121,005,320 (GRCm39) |
Y1330C |
probably damaging |
Het |
| Rmdn2 |
T |
G |
17: 79,935,339 (GRCm39) |
S151A |
|
Het |
| Sdk1 |
A |
C |
5: 141,940,657 (GRCm39) |
D475A |
possibly damaging |
Het |
| Serpina1e |
A |
T |
12: 103,917,243 (GRCm39) |
L142Q |
possibly damaging |
Het |
| Setbp1 |
T |
A |
18: 78,902,629 (GRCm39) |
D346V |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,795,254 (GRCm39) |
L431P |
unknown |
Het |
| St13 |
G |
A |
15: 81,259,063 (GRCm39) |
A207V |
possibly damaging |
Het |
| Thra |
T |
C |
11: 98,653,772 (GRCm39) |
I201T |
probably benign |
Het |
| Trim41 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCC |
TTCCTCCTCCTCCTCCTCCTCCTCC |
11: 48,707,084 (GRCm39) |
|
probably benign |
Het |
| Trpm6 |
C |
T |
19: 18,853,394 (GRCm39) |
Q1805* |
probably null |
Het |
| Uxs1 |
A |
T |
1: 43,810,892 (GRCm39) |
Y231* |
probably null |
Het |
| Vash1 |
A |
T |
12: 86,735,870 (GRCm39) |
D252V |
probably damaging |
Het |
| Vmn1r61 |
A |
C |
7: 5,614,185 (GRCm39) |
V43G |
probably damaging |
Het |
| Vmn2r105 |
T |
C |
17: 20,448,023 (GRCm39) |
N267S |
probably benign |
Het |
| Zfp445 |
T |
C |
9: 122,685,844 (GRCm39) |
E232G |
probably damaging |
Het |
|
| Other mutations in Vmn2r1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00233:Vmn2r1
|
APN |
3 |
64,012,389 (GRCm39) |
nonsense |
probably null |
|
|
IGL00335:Vmn2r1
|
APN |
3 |
64,012,809 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01509:Vmn2r1
|
APN |
3 |
64,010,466 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01641:Vmn2r1
|
APN |
3 |
64,011,924 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01656:Vmn2r1
|
APN |
3 |
63,989,274 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01927:Vmn2r1
|
APN |
3 |
63,989,105 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02093:Vmn2r1
|
APN |
3 |
64,012,130 (GRCm39) |
missense |
probably benign |
|
|
IGL02146:Vmn2r1
|
APN |
3 |
64,012,104 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02186:Vmn2r1
|
APN |
3 |
63,989,138 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02320:Vmn2r1
|
APN |
3 |
63,989,180 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02423:Vmn2r1
|
APN |
3 |
63,997,665 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02709:Vmn2r1
|
APN |
3 |
64,012,355 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0034:Vmn2r1
|
UTSW |
3 |
63,997,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0064:Vmn2r1
|
UTSW |
3 |
64,012,209 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0152:Vmn2r1
|
UTSW |
3 |
63,989,240 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0305:Vmn2r1
|
UTSW |
3 |
63,997,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0314:Vmn2r1
|
UTSW |
3 |
63,993,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0317:Vmn2r1
|
UTSW |
3 |
63,989,240 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0465:Vmn2r1
|
UTSW |
3 |
63,989,180 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1144:Vmn2r1
|
UTSW |
3 |
63,997,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1163:Vmn2r1
|
UTSW |
3 |
63,994,046 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1448:Vmn2r1
|
UTSW |
3 |
64,008,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1491:Vmn2r1
|
UTSW |
3 |
63,997,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1543:Vmn2r1
|
UTSW |
3 |
63,996,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1611:Vmn2r1
|
UTSW |
3 |
64,011,958 (GRCm39) |
nonsense |
probably null |
|
|
R1676:Vmn2r1
|
UTSW |
3 |
63,997,603 (GRCm39) |
nonsense |
probably null |
|
|
R1727:Vmn2r1
|
UTSW |
3 |
63,989,163 (GRCm39) |
missense |
probably benign |
|
|
R1851:Vmn2r1
|
UTSW |
3 |
64,008,926 (GRCm39) |
missense |
probably benign |
0.32 |
|
R3080:Vmn2r1
|
UTSW |
3 |
63,997,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3790:Vmn2r1
|
UTSW |
3 |
63,994,185 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4111:Vmn2r1
|
UTSW |
3 |
63,997,176 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4689:Vmn2r1
|
UTSW |
3 |
64,012,074 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4747:Vmn2r1
|
UTSW |
3 |
63,989,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4970:Vmn2r1
|
UTSW |
3 |
63,997,544 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5033:Vmn2r1
|
UTSW |
3 |
64,012,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5086:Vmn2r1
|
UTSW |
3 |
63,997,418 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5112:Vmn2r1
|
UTSW |
3 |
63,997,544 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5385:Vmn2r1
|
UTSW |
3 |
64,008,819 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5629:Vmn2r1
|
UTSW |
3 |
64,012,538 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5762:Vmn2r1
|
UTSW |
3 |
63,997,474 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5867:Vmn2r1
|
UTSW |
3 |
64,011,990 (GRCm39) |
missense |
probably benign |
|
|
R5893:Vmn2r1
|
UTSW |
3 |
63,993,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6037:Vmn2r1
|
UTSW |
3 |
63,989,150 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6037:Vmn2r1
|
UTSW |
3 |
63,989,150 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6290:Vmn2r1
|
UTSW |
3 |
64,012,873 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6443:Vmn2r1
|
UTSW |
3 |
64,012,374 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6464:Vmn2r1
|
UTSW |
3 |
64,008,766 (GRCm39) |
missense |
probably benign |
|
|
R6826:Vmn2r1
|
UTSW |
3 |
64,012,567 (GRCm39) |
nonsense |
probably null |
|
|
R6874:Vmn2r1
|
UTSW |
3 |
64,012,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6882:Vmn2r1
|
UTSW |
3 |
63,997,529 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6983:Vmn2r1
|
UTSW |
3 |
63,989,118 (GRCm39) |
missense |
probably benign |
|
|
R7010:Vmn2r1
|
UTSW |
3 |
64,012,146 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7144:Vmn2r1
|
UTSW |
3 |
63,997,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7341:Vmn2r1
|
UTSW |
3 |
64,012,877 (GRCm39) |
makesense |
probably null |
|
|
R7510:Vmn2r1
|
UTSW |
3 |
63,993,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7557:Vmn2r1
|
UTSW |
3 |
63,997,475 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7895:Vmn2r1
|
UTSW |
3 |
63,997,130 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8108:Vmn2r1
|
UTSW |
3 |
64,010,471 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8209:Vmn2r1
|
UTSW |
3 |
63,997,199 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8365:Vmn2r1
|
UTSW |
3 |
63,994,034 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8514:Vmn2r1
|
UTSW |
3 |
63,993,942 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8554:Vmn2r1
|
UTSW |
3 |
63,997,334 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8980:Vmn2r1
|
UTSW |
3 |
64,010,501 (GRCm39) |
missense |
|
|
|
R9140:Vmn2r1
|
UTSW |
3 |
63,997,465 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9239:Vmn2r1
|
UTSW |
3 |
64,011,959 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9441:Vmn2r1
|
UTSW |
3 |
64,012,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9771:Vmn2r1
|
UTSW |
3 |
63,997,559 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
X0065:Vmn2r1
|
UTSW |
3 |
63,997,678 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCCTGGATTACCTCTGCTC -3'
(R):5'- CTGAGATGATCCAGGCCATG -3'
Sequencing Primer
(F):5'- GCTCTCATTGCAAAGCCTGAG -3'
(R):5'- TGATCCAGGCCATGAGCTATAGC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation