Incidental Mutation 'R8514:Vmn2r1'
| ID |
656016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r1
|
| Ensembl Gene |
ENSMUSG00000027824 |
| Gene Name |
vomeronasal 2, receptor 1 |
| Synonyms |
V2r83, EG56544 |
| MMRRC Submission |
067945-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R8514 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
63988968-64016905 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63993942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 96
(K96R)
|
| 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: K96R
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000029406
Gene: ENSMUSG00000027824
AA Change: K96R
| 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: 98.3%
|
| Validation Efficiency |
96% (49/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcam |
A |
G |
7: 19,492,466 (GRCm39) |
V543A |
probably damaging |
Het |
| Calhm6 |
G |
A |
10: 34,002,399 (GRCm39) |
T228I |
possibly damaging |
Het |
| Capn1 |
T |
C |
19: 6,047,854 (GRCm39) |
E403G |
probably damaging |
Het |
| Casp12 |
T |
C |
9: 5,352,735 (GRCm39) |
F186L |
probably damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,121,459 (GRCm39) |
Q13R |
unknown |
Het |
| Cip2a |
T |
C |
16: 48,817,810 (GRCm39) |
V60A |
possibly damaging |
Het |
| Ckap2l |
G |
T |
2: 129,127,788 (GRCm39) |
A130E |
possibly damaging |
Het |
| Creld1 |
C |
T |
6: 113,469,830 (GRCm39) |
R411C |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,896,199 (GRCm39) |
S167T |
probably benign |
Het |
| Emc10 |
G |
T |
7: 44,142,646 (GRCm39) |
Q99K |
probably damaging |
Het |
| Fryl |
T |
A |
5: 73,242,699 (GRCm39) |
I1287L |
probably benign |
Het |
| Gjc3 |
T |
A |
5: 137,955,772 (GRCm39) |
Y171F |
probably damaging |
Het |
| Glrp1 |
GTGCTGCTGCTGCTGCTG |
GTGCTGCTGCTGCTG |
1: 88,431,042 (GRCm39) |
|
probably benign |
Het |
| Golga4 |
T |
C |
9: 118,384,864 (GRCm39) |
V662A |
possibly damaging |
Het |
| Gpr33 |
A |
G |
12: 52,070,181 (GRCm39) |
V286A |
probably benign |
Het |
| Htr1d |
A |
G |
4: 136,170,650 (GRCm39) |
E293G |
probably damaging |
Het |
| Ints6 |
A |
G |
14: 62,933,166 (GRCm39) |
V847A |
possibly damaging |
Het |
| Iqsec3 |
A |
G |
6: 121,390,521 (GRCm39) |
C317R |
unknown |
Het |
| Mdn1 |
T |
A |
4: 32,739,857 (GRCm39) |
Y3704N |
probably damaging |
Het |
| Micall2 |
C |
A |
5: 139,701,977 (GRCm39) |
R422L |
probably damaging |
Het |
| Mndal |
T |
C |
1: 173,687,758 (GRCm39) |
D492G |
possibly damaging |
Het |
| Myom2 |
C |
T |
8: 15,175,153 (GRCm39) |
P1244L |
possibly damaging |
Het |
| Notch1 |
A |
G |
2: 26,362,181 (GRCm39) |
C1025R |
probably damaging |
Het |
| Nthl1 |
G |
A |
17: 24,853,089 (GRCm39) |
V98M |
probably damaging |
Het |
| Or12e10 |
A |
T |
2: 87,641,054 (GRCm39) |
I297F |
probably damaging |
Het |
| Or4a15 |
T |
C |
2: 89,193,573 (GRCm39) |
I67V |
probably benign |
Het |
| Pank3 |
A |
G |
11: 35,667,186 (GRCm39) |
D101G |
probably null |
Het |
| Phtf2 |
T |
C |
5: 21,007,030 (GRCm39) |
R178G |
possibly damaging |
Het |
| Pitrm1 |
T |
C |
13: 6,618,822 (GRCm39) |
|
probably null |
Het |
| Platr25 |
T |
C |
13: 62,848,586 (GRCm39) |
Y92C |
probably damaging |
Het |
| Plpp1 |
A |
T |
13: 112,971,462 (GRCm39) |
D43V |
probably damaging |
Het |
| Prg4 |
G |
A |
1: 150,330,396 (GRCm39) |
T759I |
unknown |
Het |
| Pros1 |
A |
G |
16: 62,730,472 (GRCm39) |
T321A |
probably benign |
Het |
| Rad50 |
G |
A |
11: 53,569,766 (GRCm39) |
Q882* |
probably null |
Het |
| Rasa3 |
A |
C |
8: 13,631,322 (GRCm39) |
F533V |
probably benign |
Het |
| Rgs18 |
T |
A |
1: 144,629,765 (GRCm39) |
I165F |
probably damaging |
Het |
| Rtl1 |
C |
T |
12: 109,560,307 (GRCm39) |
V511I |
possibly damaging |
Het |
| Sdc3 |
A |
G |
4: 130,546,072 (GRCm39) |
T144A |
unknown |
Het |
| Slc9a9 |
T |
C |
9: 94,818,418 (GRCm39) |
F271L |
probably benign |
Het |
| Snrpa1 |
G |
A |
7: 65,720,381 (GRCm39) |
G195R |
probably benign |
Het |
| Spata31e5 |
C |
T |
1: 28,817,586 (GRCm39) |
V149M |
probably damaging |
Het |
| Tcerg1 |
T |
A |
18: 42,697,187 (GRCm39) |
D759E |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,284,406 (GRCm39) |
L893P |
probably damaging |
Het |
| Tex101 |
T |
A |
7: 24,367,957 (GRCm39) |
Q167L |
possibly damaging |
Het |
| Tnrc6a |
C |
T |
7: 122,783,438 (GRCm39) |
R970* |
probably null |
Het |
| Trmt1l |
T |
C |
1: 151,329,742 (GRCm39) |
S562P |
probably damaging |
Het |
| Tut4 |
T |
A |
4: 108,414,554 (GRCm39) |
W44R |
possibly damaging |
Het |
| Ubn1 |
A |
G |
16: 4,891,263 (GRCm39) |
E546G |
probably damaging |
Het |
| Usp38 |
T |
A |
8: 81,712,346 (GRCm39) |
Q563L |
probably benign |
Het |
| Vmn1r1 |
C |
T |
1: 181,985,138 (GRCm39) |
V176I |
probably benign |
Het |
| Vmn2r62 |
A |
G |
7: 42,413,992 (GRCm39) |
V817A |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 101,999,219 (GRCm39) |
C3066S |
possibly damaging |
Het |
| Yeats4 |
T |
C |
10: 117,051,660 (GRCm39) |
E199G |
possibly 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 |
|
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 |
|
R9549:Vmn2r1
|
UTSW |
3 |
63,997,493 (GRCm39) |
missense |
probably benign |
0.17 |
|
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'- GACAACTAAGATACCTGCTGCTG -3'
(R):5'- CCTAGAATTCGTGAAGCAGCAAC -3'
Sequencing Primer
(F):5'- GCTGCTGCTTCTACAAAAAGCTG -3'
(R):5'- TGATCCAACCAGTGCTGCTAGAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation