Incidental Mutation 'R5762:Vmn2r23'
ID |
446048 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r23
|
Ensembl Gene |
ENSMUSG00000091620 |
Gene Name |
vomeronasal 2, receptor 23 |
Synonyms |
EG435916 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R5762 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
123679780-123719198 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 123710352 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 552
(T552A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126682
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172391]
|
AlphaFold |
E9PXI5 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158091
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172391
AA Change: T552A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126682 Gene: ENSMUSG00000091620 AA Change: T552A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
79 |
461 |
1.7e-31 |
PFAM |
Pfam:NCD3G
|
513 |
566 |
1.2e-23 |
PFAM |
Pfam:7tm_3
|
596 |
834 |
1.5e-55 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
T |
5: 77,044,445 (GRCm39) |
D148E |
probably benign |
Het |
Abca13 |
A |
G |
11: 9,531,665 (GRCm39) |
I4631V |
probably damaging |
Het |
Adamts16 |
A |
T |
13: 70,886,617 (GRCm39) |
W1058R |
probably damaging |
Het |
Adgrf5 |
A |
G |
17: 43,741,586 (GRCm39) |
I163V |
probably null |
Het |
Ano1 |
T |
A |
7: 144,201,774 (GRCm39) |
Y338F |
probably damaging |
Het |
Atp4a |
A |
G |
7: 30,418,521 (GRCm39) |
D603G |
probably damaging |
Het |
Bmp2k |
GGCCCGC |
GGC |
5: 97,235,050 (GRCm39) |
|
probably null |
Het |
Brinp2 |
T |
C |
1: 158,074,156 (GRCm39) |
D655G |
probably benign |
Het |
C3ar1 |
A |
G |
6: 122,827,321 (GRCm39) |
S299P |
probably benign |
Het |
Calhm1 |
T |
A |
19: 47,132,058 (GRCm39) |
|
probably null |
Het |
Ccdc187 |
G |
A |
2: 26,166,104 (GRCm39) |
P775L |
possibly damaging |
Het |
Cd27 |
A |
G |
6: 125,213,561 (GRCm39) |
F48S |
probably damaging |
Het |
Cfap52 |
A |
G |
11: 67,844,947 (GRCm39) |
Y41H |
possibly damaging |
Het |
Cntn5 |
A |
G |
9: 9,748,394 (GRCm39) |
S701P |
possibly damaging |
Het |
Ctbp2 |
G |
T |
7: 132,597,088 (GRCm39) |
A665D |
probably damaging |
Het |
Ctsd |
C |
A |
7: 141,937,266 (GRCm39) |
G81C |
probably damaging |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Dpysl4 |
C |
T |
7: 138,671,853 (GRCm39) |
A67V |
probably benign |
Het |
Dst |
C |
T |
1: 34,218,438 (GRCm39) |
T1626I |
probably damaging |
Het |
Etfdh |
A |
C |
3: 79,523,261 (GRCm39) |
D217E |
probably null |
Het |
Far1 |
T |
A |
7: 113,167,396 (GRCm39) |
Y494N |
probably damaging |
Het |
Fndc1 |
G |
A |
17: 7,990,366 (GRCm39) |
T1110M |
unknown |
Het |
Frmd4a |
G |
T |
2: 4,488,876 (GRCm39) |
D78Y |
probably damaging |
Het |
Fsip2 |
G |
A |
2: 82,808,260 (GRCm39) |
M1526I |
probably benign |
Het |
Ggn |
C |
T |
7: 28,871,777 (GRCm39) |
P399S |
probably damaging |
Het |
H2ac6 |
C |
T |
13: 23,867,888 (GRCm39) |
G5S |
probably damaging |
Het |
Hap1 |
A |
G |
11: 100,246,600 (GRCm39) |
W102R |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,846,938 (GRCm39) |
S3629R |
possibly damaging |
Het |
Hyal4 |
A |
C |
6: 24,765,861 (GRCm39) |
Y405S |
possibly damaging |
Het |
Ifi204 |
G |
A |
1: 173,580,325 (GRCm39) |
T395I |
probably damaging |
Het |
Igsf9 |
A |
G |
1: 172,326,005 (GRCm39) |
E1147G |
probably damaging |
Het |
Inpp5a |
T |
A |
7: 139,118,097 (GRCm39) |
I225N |
possibly damaging |
Het |
Kcnv1 |
T |
C |
15: 44,972,518 (GRCm39) |
K455R |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,515,455 (GRCm39) |
D2796G |
probably benign |
Het |
Ngp |
A |
T |
9: 110,251,401 (GRCm39) |
D143V |
probably benign |
Het |
Nlrp5 |
T |
C |
7: 23,118,264 (GRCm39) |
C663R |
possibly damaging |
Het |
Nup205 |
G |
T |
6: 35,204,615 (GRCm39) |
R1469L |
probably damaging |
Het |
Nup205 |
T |
A |
6: 35,207,483 (GRCm39) |
F1512I |
probably damaging |
Het |
Nwd1 |
T |
C |
8: 73,397,542 (GRCm39) |
S594P |
probably damaging |
Het |
Nxpe2 |
A |
C |
9: 48,230,875 (GRCm39) |
V498G |
probably benign |
Het |
P3h4 |
G |
A |
11: 100,302,677 (GRCm39) |
R320C |
probably damaging |
Het |
Plec |
A |
G |
15: 76,063,455 (GRCm39) |
L2273P |
probably damaging |
Het |
Ppp1r14b |
C |
T |
19: 6,953,951 (GRCm39) |
L100F |
probably damaging |
Het |
Prlhr |
C |
T |
19: 60,455,506 (GRCm39) |
W353* |
probably null |
Het |
Ralgps2 |
C |
T |
1: 156,660,234 (GRCm39) |
|
probably null |
Het |
Rrp12 |
C |
T |
19: 41,868,591 (GRCm39) |
G584D |
possibly damaging |
Het |
Scamp3 |
T |
C |
3: 89,088,504 (GRCm39) |
F237L |
probably damaging |
Het |
Scn10a |
A |
G |
9: 119,464,507 (GRCm39) |
|
probably null |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Shroom1 |
A |
T |
11: 53,354,818 (GRCm39) |
D246V |
probably benign |
Het |
Snapc4 |
T |
A |
2: 26,268,618 (GRCm39) |
E14D |
probably damaging |
Het |
Spag5 |
A |
T |
11: 78,194,972 (GRCm39) |
Q93L |
probably benign |
Het |
Tcstv5 |
T |
A |
13: 120,411,501 (GRCm39) |
Q35L |
probably benign |
Het |
Tle1 |
C |
T |
4: 72,038,372 (GRCm39) |
|
probably null |
Het |
Ttll10 |
G |
A |
4: 156,119,438 (GRCm39) |
P683S |
possibly damaging |
Het |
Unc13c |
A |
C |
9: 73,719,649 (GRCm39) |
D1006E |
probably benign |
Het |
Unc80 |
A |
T |
1: 66,732,955 (GRCm39) |
K3101N |
possibly damaging |
Het |
Vdac1 |
A |
G |
11: 52,278,280 (GRCm39) |
Y247C |
possibly damaging |
Het |
Vmn2r1 |
G |
A |
3: 63,997,474 (GRCm39) |
V377I |
probably benign |
Het |
Xrcc3 |
C |
T |
12: 111,771,044 (GRCm39) |
R295Q |
probably damaging |
Het |
Zfp780b |
T |
C |
7: 27,664,243 (GRCm39) |
N104S |
probably benign |
Het |
Zkscan17 |
A |
G |
11: 59,378,397 (GRCm39) |
V262A |
possibly damaging |
Het |
|
Other mutations in Vmn2r23 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00324:Vmn2r23
|
APN |
6 |
123,706,684 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL01012:Vmn2r23
|
APN |
6 |
123,706,555 (GRCm39) |
missense |
probably benign |
|
IGL01073:Vmn2r23
|
APN |
6 |
123,689,759 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL01547:Vmn2r23
|
APN |
6 |
123,681,383 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL01571:Vmn2r23
|
APN |
6 |
123,681,366 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01950:Vmn2r23
|
APN |
6 |
123,718,845 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02028:Vmn2r23
|
APN |
6 |
123,718,819 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02248:Vmn2r23
|
APN |
6 |
123,718,703 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02318:Vmn2r23
|
APN |
6 |
123,718,795 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02649:Vmn2r23
|
APN |
6 |
123,681,437 (GRCm39) |
missense |
probably benign |
|
IGL02831:Vmn2r23
|
APN |
6 |
123,681,344 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02832:Vmn2r23
|
APN |
6 |
123,681,355 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02865:Vmn2r23
|
APN |
6 |
123,718,578 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02964:Vmn2r23
|
APN |
6 |
123,718,741 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03347:Vmn2r23
|
APN |
6 |
123,681,333 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03396:Vmn2r23
|
APN |
6 |
123,706,585 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4472001:Vmn2r23
|
UTSW |
6 |
123,689,936 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0597:Vmn2r23
|
UTSW |
6 |
123,706,680 (GRCm39) |
missense |
probably benign |
0.08 |
R0677:Vmn2r23
|
UTSW |
6 |
123,690,410 (GRCm39) |
missense |
probably benign |
0.00 |
R0904:Vmn2r23
|
UTSW |
6 |
123,719,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R1330:Vmn2r23
|
UTSW |
6 |
123,718,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R1424:Vmn2r23
|
UTSW |
6 |
123,690,229 (GRCm39) |
nonsense |
probably null |
|
R1629:Vmn2r23
|
UTSW |
6 |
123,690,386 (GRCm39) |
missense |
probably benign |
0.05 |
R1842:Vmn2r23
|
UTSW |
6 |
123,706,649 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1867:Vmn2r23
|
UTSW |
6 |
123,679,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R1919:Vmn2r23
|
UTSW |
6 |
123,689,969 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2087:Vmn2r23
|
UTSW |
6 |
123,718,458 (GRCm39) |
missense |
probably benign |
0.00 |
R2338:Vmn2r23
|
UTSW |
6 |
123,681,384 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2568:Vmn2r23
|
UTSW |
6 |
123,719,147 (GRCm39) |
nonsense |
probably null |
|
R2867:Vmn2r23
|
UTSW |
6 |
123,690,123 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2867:Vmn2r23
|
UTSW |
6 |
123,690,123 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3500:Vmn2r23
|
UTSW |
6 |
123,690,129 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3789:Vmn2r23
|
UTSW |
6 |
123,718,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R4164:Vmn2r23
|
UTSW |
6 |
123,706,697 (GRCm39) |
missense |
probably benign |
|
R4506:Vmn2r23
|
UTSW |
6 |
123,679,884 (GRCm39) |
missense |
probably damaging |
1.00 |
R4652:Vmn2r23
|
UTSW |
6 |
123,718,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R4697:Vmn2r23
|
UTSW |
6 |
123,718,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R4840:Vmn2r23
|
UTSW |
6 |
123,690,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R4983:Vmn2r23
|
UTSW |
6 |
123,710,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R5276:Vmn2r23
|
UTSW |
6 |
123,689,936 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5392:Vmn2r23
|
UTSW |
6 |
123,681,323 (GRCm39) |
missense |
probably benign |
0.36 |
R5528:Vmn2r23
|
UTSW |
6 |
123,689,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R5529:Vmn2r23
|
UTSW |
6 |
123,690,410 (GRCm39) |
missense |
probably benign |
0.00 |
R5664:Vmn2r23
|
UTSW |
6 |
123,690,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R5749:Vmn2r23
|
UTSW |
6 |
123,710,232 (GRCm39) |
missense |
probably benign |
|
R5761:Vmn2r23
|
UTSW |
6 |
123,689,718 (GRCm39) |
missense |
probably benign |
0.39 |
R5868:Vmn2r23
|
UTSW |
6 |
123,689,901 (GRCm39) |
missense |
probably benign |
0.12 |
R5935:Vmn2r23
|
UTSW |
6 |
123,718,854 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6242:Vmn2r23
|
UTSW |
6 |
123,681,359 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6416:Vmn2r23
|
UTSW |
6 |
123,689,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R6524:Vmn2r23
|
UTSW |
6 |
123,690,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R6576:Vmn2r23
|
UTSW |
6 |
123,710,232 (GRCm39) |
missense |
probably benign |
|
R6925:Vmn2r23
|
UTSW |
6 |
123,681,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R7148:Vmn2r23
|
UTSW |
6 |
123,689,981 (GRCm39) |
missense |
probably benign |
|
R7215:Vmn2r23
|
UTSW |
6 |
123,681,323 (GRCm39) |
missense |
probably benign |
0.36 |
R7252:Vmn2r23
|
UTSW |
6 |
123,718,540 (GRCm39) |
missense |
probably damaging |
0.97 |
R7403:Vmn2r23
|
UTSW |
6 |
123,681,538 (GRCm39) |
missense |
probably benign |
0.01 |
R8015:Vmn2r23
|
UTSW |
6 |
123,681,500 (GRCm39) |
missense |
probably benign |
0.00 |
R8143:Vmn2r23
|
UTSW |
6 |
123,718,312 (GRCm39) |
missense |
probably damaging |
0.99 |
R8474:Vmn2r23
|
UTSW |
6 |
123,681,599 (GRCm39) |
missense |
probably benign |
0.36 |
R8520:Vmn2r23
|
UTSW |
6 |
123,718,615 (GRCm39) |
missense |
probably damaging |
0.99 |
R8679:Vmn2r23
|
UTSW |
6 |
123,690,431 (GRCm39) |
missense |
probably damaging |
0.99 |
R8713:Vmn2r23
|
UTSW |
6 |
123,679,991 (GRCm39) |
missense |
|
|
R8966:Vmn2r23
|
UTSW |
6 |
123,719,079 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9124:Vmn2r23
|
UTSW |
6 |
123,719,038 (GRCm39) |
missense |
possibly damaging |
0.57 |
R9163:Vmn2r23
|
UTSW |
6 |
123,718,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R9189:Vmn2r23
|
UTSW |
6 |
123,681,323 (GRCm39) |
missense |
probably benign |
0.36 |
R9451:Vmn2r23
|
UTSW |
6 |
123,710,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R9495:Vmn2r23
|
UTSW |
6 |
123,689,672 (GRCm39) |
missense |
probably benign |
0.30 |
R9514:Vmn2r23
|
UTSW |
6 |
123,689,672 (GRCm39) |
missense |
probably benign |
0.30 |
RF018:Vmn2r23
|
UTSW |
6 |
123,690,075 (GRCm39) |
missense |
probably benign |
0.00 |
T0975:Vmn2r23
|
UTSW |
6 |
123,690,120 (GRCm39) |
missense |
probably benign |
0.00 |
Z1088:Vmn2r23
|
UTSW |
6 |
123,719,067 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Vmn2r23
|
UTSW |
6 |
123,706,684 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACTGAATGGCATGAATGGACTAAC -3'
(R):5'- CACTAAACTCAGTGCTGTTTTGC -3'
Sequencing Primer
(F):5'- GGCATGAATGGACTAACTTCCTTCTG -3'
(R):5'- CACTCTATAGATCAGGATGGCCTTG -3'
|
Posted On |
2016-11-21 |