Incidental Mutation 'R2075:Vmn2r27'
| ID |
227515 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r27
|
| Ensembl Gene |
ENSMUSG00000072778 |
| Gene Name |
vomeronasal 2, receptor27 |
| Synonyms |
EG232367 |
| MMRRC Submission |
040080-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R2075 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
124168555-124208743 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 124177510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 498
(Q498L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098528
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100968]
|
| AlphaFold |
D3YUK6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100968
AA Change: Q498L
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000098528
Gene: ENSMUSG00000072778
AA Change: Q498L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
81 |
475 |
1.1e-27 |
PFAM |
|
Pfam:NCD3G
|
519 |
570 |
1.3e-18 |
PFAM |
|
Pfam:7tm_3
|
603 |
838 |
2.6e-50 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,472,382 (GRCm39) |
F4263L |
probably damaging |
Het |
| Aebp2 |
G |
A |
6: 140,579,420 (GRCm39) |
S219N |
probably benign |
Het |
| Anln |
C |
A |
9: 22,244,464 (GRCm39) |
W1083L |
probably benign |
Het |
| Atic |
T |
A |
1: 71,615,286 (GRCm39) |
D438E |
probably benign |
Het |
| Bahcc1 |
G |
A |
11: 120,162,515 (GRCm39) |
C271Y |
probably damaging |
Het |
| Btbd17 |
A |
T |
11: 114,682,778 (GRCm39) |
|
probably null |
Het |
| Ccdc122 |
T |
C |
14: 77,306,391 (GRCm39) |
|
probably null |
Het |
| Ccdc149 |
A |
G |
5: 52,596,510 (GRCm39) |
L34P |
probably damaging |
Het |
| Cd22 |
C |
G |
7: 30,569,123 (GRCm39) |
C637S |
probably damaging |
Het |
| Ces1a |
T |
A |
8: 93,774,703 (GRCm39) |
N12Y |
probably benign |
Het |
| Chmp1a |
A |
T |
8: 123,934,761 (GRCm39) |
M65K |
probably damaging |
Het |
| Clec16a |
G |
A |
16: 10,559,480 (GRCm39) |
A918T |
probably benign |
Het |
| Clec2m |
C |
T |
6: 129,303,666 (GRCm39) |
E100K |
probably benign |
Het |
| Cnot1 |
G |
T |
8: 96,466,461 (GRCm39) |
T1592K |
possibly damaging |
Het |
| Ddx10 |
A |
T |
9: 53,151,805 (GRCm39) |
D73E |
probably benign |
Het |
| Dhx32 |
T |
C |
7: 133,323,021 (GRCm39) |
N731S |
probably benign |
Het |
| Dmd |
G |
C |
X: 83,356,089 (GRCm39) |
A2257P |
probably benign |
Het |
| Dna2 |
A |
G |
10: 62,805,601 (GRCm39) |
Q946R |
probably benign |
Het |
| Dnai4 |
G |
A |
4: 102,907,390 (GRCm39) |
T632M |
probably damaging |
Het |
| Duox2 |
T |
A |
2: 122,125,639 (GRCm39) |
S323C |
probably damaging |
Het |
| Esr2 |
A |
G |
12: 76,212,221 (GRCm39) |
|
probably null |
Het |
| Fbxo9 |
G |
T |
9: 77,991,798 (GRCm39) |
H397N |
possibly damaging |
Het |
| Fsip2 |
T |
A |
2: 82,818,923 (GRCm39) |
N4885K |
possibly damaging |
Het |
| Gm12695 |
T |
C |
4: 96,612,182 (GRCm39) |
Y527C |
possibly damaging |
Het |
| Hivep1 |
A |
G |
13: 42,309,794 (GRCm39) |
D678G |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,453,074 (GRCm39) |
I5414F |
possibly damaging |
Het |
| Hspb2 |
T |
C |
9: 50,662,646 (GRCm39) |
Y67C |
probably benign |
Het |
| Kbtbd8 |
T |
A |
6: 95,103,664 (GRCm39) |
C438S |
possibly damaging |
Het |
| Kif5a |
T |
C |
10: 127,081,238 (GRCm39) |
D232G |
probably damaging |
Het |
| Ky |
A |
G |
9: 102,419,945 (GRCm39) |
S651G |
probably damaging |
Het |
| Lgals12 |
T |
C |
19: 7,576,210 (GRCm39) |
D238G |
possibly damaging |
Het |
| Lpcat3 |
T |
A |
6: 124,680,066 (GRCm39) |
Y380N |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,716,058 (GRCm39) |
H2080R |
probably benign |
Het |
| Mex3c |
C |
T |
18: 73,722,840 (GRCm39) |
S311L |
probably benign |
Het |
| Mlh3 |
A |
T |
12: 85,315,915 (GRCm39) |
Y90* |
probably null |
Het |
| Mpped2 |
T |
A |
2: 106,575,147 (GRCm39) |
Y77* |
probably null |
Het |
| Myo5a |
A |
T |
9: 75,097,200 (GRCm39) |
T49S |
probably benign |
Het |
| Nsd1 |
T |
C |
13: 55,458,313 (GRCm39) |
V2142A |
possibly damaging |
Het |
| Or4a74 |
A |
G |
2: 89,439,822 (GRCm39) |
V208A |
probably benign |
Het |
| Or51b17 |
T |
A |
7: 103,542,127 (GRCm39) |
I272F |
probably damaging |
Het |
| Or51i2 |
T |
A |
7: 103,689,180 (GRCm39) |
M59K |
probably damaging |
Het |
| Or5ac19 |
T |
C |
16: 59,089,274 (GRCm39) |
Y252C |
possibly damaging |
Het |
| Pdgfra |
T |
C |
5: 75,348,609 (GRCm39) |
I883T |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,385,905 (GRCm39) |
L955P |
probably damaging |
Het |
| Phf24 |
A |
G |
4: 42,939,507 (GRCm39) |
Y333C |
possibly damaging |
Het |
| Phlpp2 |
T |
C |
8: 110,655,124 (GRCm39) |
S605P |
possibly damaging |
Het |
| Piezo2 |
C |
T |
18: 63,214,805 (GRCm39) |
E1263K |
probably damaging |
Het |
| Pitrm1 |
A |
G |
13: 6,605,419 (GRCm39) |
T149A |
probably damaging |
Het |
| Pkhd1l1 |
G |
T |
15: 44,422,035 (GRCm39) |
A3102S |
probably damaging |
Het |
| Plch2 |
A |
T |
4: 155,074,366 (GRCm39) |
L754Q |
probably damaging |
Het |
| Polr2c |
A |
G |
8: 95,590,195 (GRCm39) |
I267V |
probably benign |
Het |
| Potefam1 |
T |
C |
2: 111,030,763 (GRCm39) |
E382G |
probably damaging |
Het |
| Prss8 |
C |
A |
7: 127,526,266 (GRCm39) |
R148L |
possibly damaging |
Het |
| Ptpn2 |
T |
A |
18: 67,814,545 (GRCm39) |
T155S |
probably damaging |
Het |
| Ptprn2 |
G |
A |
12: 117,211,337 (GRCm39) |
V839I |
probably benign |
Het |
| Sbp |
A |
G |
17: 24,164,132 (GRCm39) |
|
probably null |
Het |
| Sec16a |
A |
G |
2: 26,330,251 (GRCm39) |
I588T |
probably damaging |
Het |
| Six2 |
A |
G |
17: 85,994,933 (GRCm39) |
S150P |
probably damaging |
Het |
| Slc5a5 |
C |
T |
8: 71,345,083 (GRCm39) |
G75R |
possibly damaging |
Het |
| Slc6a20b |
T |
A |
9: 123,424,099 (GRCm39) |
T623S |
probably benign |
Het |
| Sqle |
T |
A |
15: 59,195,750 (GRCm39) |
V342E |
probably damaging |
Het |
| Stk3 |
T |
C |
15: 34,959,195 (GRCm39) |
M256V |
possibly damaging |
Het |
| Tek |
A |
G |
4: 94,715,966 (GRCm39) |
I463V |
probably benign |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Tnc |
G |
A |
4: 63,913,903 (GRCm39) |
T1303M |
possibly damaging |
Het |
| Traf6 |
A |
C |
2: 101,527,398 (GRCm39) |
I383L |
probably benign |
Het |
| Tubb3 |
C |
T |
8: 124,148,009 (GRCm39) |
A314V |
probably damaging |
Het |
| Vmn1r199 |
A |
T |
13: 22,567,435 (GRCm39) |
Y243F |
probably damaging |
Het |
| Vmn2r111 |
A |
C |
17: 22,778,043 (GRCm39) |
N545K |
probably damaging |
Het |
| Vstm4 |
A |
T |
14: 32,639,811 (GRCm39) |
S229C |
probably damaging |
Het |
| Wdr12 |
C |
T |
1: 60,130,222 (GRCm39) |
R63Q |
possibly damaging |
Het |
| Wrn |
T |
A |
8: 33,812,357 (GRCm39) |
I187L |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,340,545 (GRCm39) |
I929L |
probably benign |
Het |
| Ywhae |
T |
A |
11: 75,655,486 (GRCm39) |
D252E |
probably benign |
Het |
| Zfp944 |
A |
T |
17: 22,558,178 (GRCm39) |
C356* |
probably null |
Het |
|
| Other mutations in Vmn2r27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01285:Vmn2r27
|
APN |
6 |
124,169,370 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01388:Vmn2r27
|
APN |
6 |
124,200,791 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL01923:Vmn2r27
|
APN |
6 |
124,177,484 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01954:Vmn2r27
|
APN |
6 |
124,169,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02105:Vmn2r27
|
APN |
6 |
124,174,308 (GRCm39) |
splice site |
probably benign |
|
|
IGL02586:Vmn2r27
|
APN |
6 |
124,201,434 (GRCm39) |
nonsense |
probably null |
|
|
IGL03130:Vmn2r27
|
APN |
6 |
124,169,276 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03330:Vmn2r27
|
APN |
6 |
124,207,139 (GRCm39) |
nonsense |
probably null |
|
|
R0124:Vmn2r27
|
UTSW |
6 |
124,208,578 (GRCm39) |
missense |
probably benign |
|
|
R0234:Vmn2r27
|
UTSW |
6 |
124,208,578 (GRCm39) |
missense |
probably benign |
|
|
R0234:Vmn2r27
|
UTSW |
6 |
124,208,578 (GRCm39) |
missense |
probably benign |
|
|
R0384:Vmn2r27
|
UTSW |
6 |
124,200,871 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0582:Vmn2r27
|
UTSW |
6 |
124,201,249 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0733:Vmn2r27
|
UTSW |
6 |
124,169,147 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0738:Vmn2r27
|
UTSW |
6 |
124,200,661 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0835:Vmn2r27
|
UTSW |
6 |
124,177,583 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1183:Vmn2r27
|
UTSW |
6 |
124,177,491 (GRCm39) |
missense |
probably benign |
|
|
R1401:Vmn2r27
|
UTSW |
6 |
124,168,591 (GRCm39) |
nonsense |
probably null |
|
|
R1484:Vmn2r27
|
UTSW |
6 |
124,177,474 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1536:Vmn2r27
|
UTSW |
6 |
124,177,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1539:Vmn2r27
|
UTSW |
6 |
124,168,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1565:Vmn2r27
|
UTSW |
6 |
124,208,593 (GRCm39) |
missense |
probably benign |
|
|
R1595:Vmn2r27
|
UTSW |
6 |
124,208,574 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1614:Vmn2r27
|
UTSW |
6 |
124,200,893 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1742:Vmn2r27
|
UTSW |
6 |
124,177,636 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1816:Vmn2r27
|
UTSW |
6 |
124,207,330 (GRCm39) |
nonsense |
probably null |
|
|
R1822:Vmn2r27
|
UTSW |
6 |
124,208,593 (GRCm39) |
missense |
probably benign |
|
|
R1824:Vmn2r27
|
UTSW |
6 |
124,208,593 (GRCm39) |
missense |
probably benign |
|
|
R1870:Vmn2r27
|
UTSW |
6 |
124,201,170 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1942:Vmn2r27
|
UTSW |
6 |
124,200,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1962:Vmn2r27
|
UTSW |
6 |
124,200,793 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2069:Vmn2r27
|
UTSW |
6 |
124,201,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2379:Vmn2r27
|
UTSW |
6 |
124,201,342 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3748:Vmn2r27
|
UTSW |
6 |
124,207,351 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4384:Vmn2r27
|
UTSW |
6 |
124,201,115 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4392:Vmn2r27
|
UTSW |
6 |
124,207,135 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4758:Vmn2r27
|
UTSW |
6 |
124,208,596 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5018:Vmn2r27
|
UTSW |
6 |
124,201,141 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5235:Vmn2r27
|
UTSW |
6 |
124,169,013 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5718:Vmn2r27
|
UTSW |
6 |
124,169,103 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5859:Vmn2r27
|
UTSW |
6 |
124,177,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5958:Vmn2r27
|
UTSW |
6 |
124,208,686 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6044:Vmn2r27
|
UTSW |
6 |
124,208,731 (GRCm39) |
missense |
probably benign |
|
|
R6086:Vmn2r27
|
UTSW |
6 |
124,168,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6396:Vmn2r27
|
UTSW |
6 |
124,201,125 (GRCm39) |
nonsense |
probably null |
|
|
R6546:Vmn2r27
|
UTSW |
6 |
124,169,369 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6746:Vmn2r27
|
UTSW |
6 |
124,177,552 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6976:Vmn2r27
|
UTSW |
6 |
124,201,312 (GRCm39) |
nonsense |
probably null |
|
|
R7091:Vmn2r27
|
UTSW |
6 |
124,200,904 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7145:Vmn2r27
|
UTSW |
6 |
124,168,711 (GRCm39) |
missense |
probably benign |
|
|
R7176:Vmn2r27
|
UTSW |
6 |
124,168,995 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7382:Vmn2r27
|
UTSW |
6 |
124,174,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7482:Vmn2r27
|
UTSW |
6 |
124,201,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7853:Vmn2r27
|
UTSW |
6 |
124,168,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7859:Vmn2r27
|
UTSW |
6 |
124,201,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7959:Vmn2r27
|
UTSW |
6 |
124,169,040 (GRCm39) |
missense |
probably benign |
|
|
R8266:Vmn2r27
|
UTSW |
6 |
124,168,937 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8353:Vmn2r27
|
UTSW |
6 |
124,169,404 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8394:Vmn2r27
|
UTSW |
6 |
124,168,776 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8463:Vmn2r27
|
UTSW |
6 |
124,169,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8477:Vmn2r27
|
UTSW |
6 |
124,201,200 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8705:Vmn2r27
|
UTSW |
6 |
124,207,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8752:Vmn2r27
|
UTSW |
6 |
124,201,018 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9109:Vmn2r27
|
UTSW |
6 |
124,174,224 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9140:Vmn2r27
|
UTSW |
6 |
124,169,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9157:Vmn2r27
|
UTSW |
6 |
124,201,244 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9431:Vmn2r27
|
UTSW |
6 |
124,168,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9477:Vmn2r27
|
UTSW |
6 |
124,168,910 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9758:Vmn2r27
|
UTSW |
6 |
124,168,637 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1177:Vmn2r27
|
UTSW |
6 |
124,168,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGCAGTTCCACTAGAGCC -3'
(R):5'- ACAGTGCAAGCTCTGATCAC -3'
Sequencing Primer
(F):5'- AGTTCCACTAGAGCCTTGACATG -3'
(R):5'- AGTGCAAGCTCTGATCACTATTTTC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation