Incidental Mutation 'R5517:Vmn2r26'
| ID |
431342 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r26
|
| Ensembl Gene |
ENSMUSG00000096630 |
| Gene Name |
vomeronasal 2, receptor 26 |
| Synonyms |
V2r1b |
| MMRRC Submission |
043076-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R5517 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124001717-124038994 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124027676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 472
(D472G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032238]
|
| AlphaFold |
Q6TAC4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032238
AA Change: D472G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032238
Gene: ENSMUSG00000096630
AA Change: D472G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
82 |
471 |
1.5e-31 |
PFAM |
|
Pfam:NCD3G
|
519 |
572 |
4.6e-25 |
PFAM |
|
Pfam:7tm_3
|
603 |
840 |
1.5e-55 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.4%
- 10x: 95.2%
- 20x: 90.5%
|
| Validation Efficiency |
99% (67/68) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal vomeronasal sensory neuron physiology and avnosmia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
C |
T |
17: 36,269,233 (GRCm39) |
R675K |
possibly damaging |
Het |
| Aire |
A |
T |
10: 77,875,525 (GRCm39) |
S282T |
probably benign |
Het |
| Ak9 |
A |
G |
10: 41,216,887 (GRCm39) |
E283G |
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,051,665 (GRCm39) |
D1477E |
possibly damaging |
Het |
| Ap2a1 |
T |
C |
7: 44,556,405 (GRCm39) |
D273G |
possibly damaging |
Het |
| Apob |
T |
C |
12: 8,040,906 (GRCm39) |
L664P |
probably damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,297,414 (GRCm39) |
F550L |
probably damaging |
Het |
| Armc2 |
T |
C |
10: 41,839,846 (GRCm39) |
E373G |
probably benign |
Het |
| Atp8b2 |
C |
A |
3: 89,853,338 (GRCm39) |
A726S |
probably benign |
Het |
| C030048H21Rik |
T |
A |
2: 26,145,899 (GRCm39) |
Q87L |
probably damaging |
Het |
| Cd244a |
T |
A |
1: 171,405,542 (GRCm39) |
|
probably benign |
Het |
| Cdk10 |
T |
A |
8: 123,957,326 (GRCm39) |
|
probably null |
Het |
| Cenpe |
C |
A |
3: 134,929,026 (GRCm39) |
P310Q |
probably damaging |
Het |
| Chuk |
T |
A |
19: 44,085,972 (GRCm39) |
|
probably null |
Het |
| Crebl2 |
T |
C |
6: 134,828,139 (GRCm39) |
S104P |
probably benign |
Het |
| Ddo |
A |
G |
10: 40,523,726 (GRCm39) |
K239E |
probably benign |
Het |
| Defb5 |
A |
G |
8: 19,300,868 (GRCm39) |
|
probably null |
Het |
| Dhx35 |
T |
A |
2: 158,676,832 (GRCm39) |
M422K |
probably damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Gatm |
G |
A |
2: 122,426,024 (GRCm39) |
T409I |
probably damaging |
Het |
| Gdpd1 |
A |
T |
11: 86,950,332 (GRCm39) |
D80E |
probably damaging |
Het |
| Gspt1 |
C |
A |
16: 11,071,843 (GRCm39) |
G7C |
unknown |
Het |
| Hells |
G |
A |
19: 38,943,244 (GRCm39) |
S516N |
probably benign |
Het |
| Ints1 |
A |
G |
5: 139,738,542 (GRCm39) |
S2069P |
possibly damaging |
Het |
| Kank4 |
G |
A |
4: 98,663,118 (GRCm39) |
T690M |
probably damaging |
Het |
| Kcnq4 |
T |
C |
4: 120,573,006 (GRCm39) |
N265S |
possibly damaging |
Het |
| Kif5b |
C |
A |
18: 6,220,954 (GRCm39) |
A385S |
probably benign |
Het |
| Map2 |
T |
C |
1: 66,454,415 (GRCm39) |
S1102P |
probably benign |
Het |
| Mcm7 |
A |
G |
5: 138,163,133 (GRCm39) |
S340P |
possibly damaging |
Het |
| Mcrs1 |
C |
T |
15: 99,144,876 (GRCm39) |
R246H |
possibly damaging |
Het |
| Myo16 |
T |
A |
8: 10,610,226 (GRCm39) |
M1189K |
probably benign |
Het |
| Or4d2 |
A |
T |
11: 87,783,892 (GRCm39) |
I286N |
probably damaging |
Het |
| Or4k52 |
G |
T |
2: 111,610,804 (GRCm39) |
M46I |
probably benign |
Het |
| Or7g29 |
G |
A |
9: 19,287,063 (GRCm39) |
T38I |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,923,995 (GRCm39) |
N1118S |
probably damaging |
Het |
| Pakap |
T |
C |
4: 57,855,987 (GRCm39) |
Y439H |
probably damaging |
Het |
| Pcdhb7 |
G |
T |
18: 37,474,846 (GRCm39) |
|
probably benign |
Het |
| Picalm |
C |
T |
7: 89,819,806 (GRCm39) |
T189I |
possibly damaging |
Het |
| Ptx4 |
T |
A |
17: 25,343,760 (GRCm39) |
S337T |
possibly damaging |
Het |
| Rad51ap2 |
C |
T |
12: 11,508,313 (GRCm39) |
S745L |
probably benign |
Het |
| Rspry1 |
G |
A |
8: 95,363,388 (GRCm39) |
|
probably null |
Het |
| Scn5a |
T |
G |
9: 119,324,779 (GRCm39) |
I1350L |
probably damaging |
Het |
| Sgk2 |
T |
C |
2: 162,839,755 (GRCm39) |
L121P |
probably damaging |
Het |
| Slc17a1 |
A |
T |
13: 24,056,575 (GRCm39) |
|
probably benign |
Het |
| Slc6a12 |
A |
G |
6: 121,331,298 (GRCm39) |
N183S |
probably benign |
Het |
| Smg9 |
C |
A |
7: 24,114,338 (GRCm39) |
|
probably benign |
Het |
| Spred1 |
G |
A |
2: 117,008,195 (GRCm39) |
S367N |
probably damaging |
Het |
| Srpra |
T |
C |
9: 35,122,646 (GRCm39) |
V21A |
probably benign |
Het |
| Taar2 |
A |
T |
10: 23,816,627 (GRCm39) |
I56F |
possibly damaging |
Het |
| Taf1a |
T |
G |
1: 183,177,323 (GRCm39) |
L67R |
probably damaging |
Het |
| Tbc1d10b |
C |
A |
7: 126,797,779 (GRCm39) |
R787S |
possibly damaging |
Het |
| Topbp1 |
T |
A |
9: 103,213,313 (GRCm39) |
N1044K |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,232,871 (GRCm39) |
T886A |
probably benign |
Het |
| Zyg11a |
T |
C |
4: 108,061,943 (GRCm39) |
N286S |
possibly damaging |
Het |
|
| Other mutations in Vmn2r26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01070:Vmn2r26
|
APN |
6 |
124,038,566 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01370:Vmn2r26
|
APN |
6 |
124,038,715 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01603:Vmn2r26
|
APN |
6 |
124,030,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01651:Vmn2r26
|
APN |
6 |
124,027,632 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02282:Vmn2r26
|
APN |
6 |
124,038,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02425:Vmn2r26
|
APN |
6 |
124,038,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02551:Vmn2r26
|
APN |
6 |
124,003,100 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02690:Vmn2r26
|
APN |
6 |
124,003,091 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03002:Vmn2r26
|
APN |
6 |
124,016,754 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL03270:Vmn2r26
|
APN |
6 |
124,027,778 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0032:Vmn2r26
|
UTSW |
6 |
124,016,858 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0052:Vmn2r26
|
UTSW |
6 |
124,038,992 (GRCm39) |
makesense |
probably null |
|
|
R0083:Vmn2r26
|
UTSW |
6 |
124,030,940 (GRCm39) |
splice site |
probably null |
|
|
R0682:Vmn2r26
|
UTSW |
6 |
124,038,129 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1061:Vmn2r26
|
UTSW |
6 |
124,038,603 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1077:Vmn2r26
|
UTSW |
6 |
124,030,872 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1263:Vmn2r26
|
UTSW |
6 |
124,027,667 (GRCm39) |
missense |
probably benign |
|
|
R1579:Vmn2r26
|
UTSW |
6 |
124,016,706 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1741:Vmn2r26
|
UTSW |
6 |
124,038,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Vmn2r26
|
UTSW |
6 |
124,038,369 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1838:Vmn2r26
|
UTSW |
6 |
124,001,730 (GRCm39) |
missense |
probably benign |
|
|
R1956:Vmn2r26
|
UTSW |
6 |
124,030,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1996:Vmn2r26
|
UTSW |
6 |
124,038,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2140:Vmn2r26
|
UTSW |
6 |
124,038,196 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2327:Vmn2r26
|
UTSW |
6 |
124,016,708 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2417:Vmn2r26
|
UTSW |
6 |
124,038,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3930:Vmn2r26
|
UTSW |
6 |
124,002,938 (GRCm39) |
missense |
probably benign |
|
|
R4490:Vmn2r26
|
UTSW |
6 |
124,027,697 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4629:Vmn2r26
|
UTSW |
6 |
124,038,150 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4655:Vmn2r26
|
UTSW |
6 |
124,038,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4709:Vmn2r26
|
UTSW |
6 |
124,030,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4992:Vmn2r26
|
UTSW |
6 |
124,003,070 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5297:Vmn2r26
|
UTSW |
6 |
124,038,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5482:Vmn2r26
|
UTSW |
6 |
124,038,285 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5737:Vmn2r26
|
UTSW |
6 |
124,016,408 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5739:Vmn2r26
|
UTSW |
6 |
124,002,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5873:Vmn2r26
|
UTSW |
6 |
124,038,633 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5907:Vmn2r26
|
UTSW |
6 |
124,016,830 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6086:Vmn2r26
|
UTSW |
6 |
124,016,519 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6134:Vmn2r26
|
UTSW |
6 |
124,038,444 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6391:Vmn2r26
|
UTSW |
6 |
124,038,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6428:Vmn2r26
|
UTSW |
6 |
124,003,039 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6637:Vmn2r26
|
UTSW |
6 |
124,038,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6927:Vmn2r26
|
UTSW |
6 |
124,016,057 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6953:Vmn2r26
|
UTSW |
6 |
124,016,741 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7173:Vmn2r26
|
UTSW |
6 |
124,038,255 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7206:Vmn2r26
|
UTSW |
6 |
124,016,727 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7208:Vmn2r26
|
UTSW |
6 |
124,038,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7283:Vmn2r26
|
UTSW |
6 |
124,002,914 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7506:Vmn2r26
|
UTSW |
6 |
124,016,700 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7672:Vmn2r26
|
UTSW |
6 |
124,016,606 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7674:Vmn2r26
|
UTSW |
6 |
124,016,321 (GRCm39) |
missense |
probably benign |
|
|
R7696:Vmn2r26
|
UTSW |
6 |
124,038,494 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7716:Vmn2r26
|
UTSW |
6 |
124,038,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7831:Vmn2r26
|
UTSW |
6 |
124,016,758 (GRCm39) |
nonsense |
probably null |
|
|
R8063:Vmn2r26
|
UTSW |
6 |
124,001,914 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8331:Vmn2r26
|
UTSW |
6 |
124,038,887 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8352:Vmn2r26
|
UTSW |
6 |
124,016,577 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8445:Vmn2r26
|
UTSW |
6 |
124,002,995 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8452:Vmn2r26
|
UTSW |
6 |
124,016,577 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8681:Vmn2r26
|
UTSW |
6 |
124,001,877 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8914:Vmn2r26
|
UTSW |
6 |
124,038,983 (GRCm39) |
missense |
probably benign |
|
|
R9333:Vmn2r26
|
UTSW |
6 |
124,003,009 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9351:Vmn2r26
|
UTSW |
6 |
124,016,333 (GRCm39) |
missense |
probably benign |
|
|
R9436:Vmn2r26
|
UTSW |
6 |
124,002,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9515:Vmn2r26
|
UTSW |
6 |
124,038,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF010:Vmn2r26
|
UTSW |
6 |
124,016,448 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAACCTGCAAGGACATACAG -3'
(R):5'- TAGCAGTCATCTGAACTCTATTCTC -3'
Sequencing Primer
(F):5'- CTGCAAGGACATACAGTAAGTTAATG -3'
(R):5'- TCTCTTAGAAATTCCACGCTAAGAAC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation