Incidental Mutation 'R8985:Vmn2r50'
| ID |
683958 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r50
|
| Ensembl Gene |
ENSMUSG00000094606 |
| Gene Name |
vomeronasal 2, receptor 50 |
| Synonyms |
EG434117 |
| MMRRC Submission |
068818-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R8985 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
9771162-9787105 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 9779974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Cysteine
at position 469
(F469C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074943]
[ENSMUST00000086298]
|
| AlphaFold |
E9PW61 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074943
AA Change: F485C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000074476
Gene: ENSMUSG00000094606
AA Change: F485C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
469 |
1.4e-32 |
PFAM |
|
Pfam:NCD3G
|
512 |
565 |
2.9e-20 |
PFAM |
|
Pfam:7tm_3
|
597 |
833 |
1.3e-55 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086298
AA Change: F469C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000083478
Gene: ENSMUSG00000094606
AA Change: F469C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
452 |
7e-31 |
PFAM |
|
Pfam:NCD3G
|
496 |
549 |
5.3e-19 |
PFAM |
|
Pfam:7tm_3
|
579 |
818 |
3.9e-78 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (74/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
T |
A |
3: 36,141,860 (GRCm39) |
|
probably benign |
Het |
| Agbl1 |
C |
A |
7: 75,969,904 (GRCm39) |
S53R |
|
Het |
| Ahr |
T |
C |
12: 35,576,736 (GRCm39) |
K65R |
possibly damaging |
Het |
| AI429214 |
A |
T |
8: 37,460,820 (GRCm39) |
|
probably benign |
Het |
| Ankrd52 |
T |
C |
10: 128,222,978 (GRCm39) |
S643P |
probably damaging |
Het |
| Asz1 |
T |
C |
6: 18,051,336 (GRCm39) |
T448A |
probably benign |
Het |
| Atp10a |
A |
G |
7: 58,438,092 (GRCm39) |
I425V |
probably benign |
Het |
| Casd1 |
T |
A |
6: 4,624,399 (GRCm39) |
Y397* |
probably null |
Het |
| Ccdc162 |
A |
G |
10: 41,432,102 (GRCm39) |
I1797T |
probably damaging |
Het |
| Cdc20b |
A |
T |
13: 113,196,330 (GRCm39) |
R152* |
probably null |
Het |
| Cdc25b |
T |
C |
2: 131,035,180 (GRCm39) |
C313R |
probably damaging |
Het |
| Cfap73 |
T |
A |
5: 120,768,123 (GRCm39) |
T212S |
probably benign |
Het |
| Chd9 |
G |
T |
8: 91,721,101 (GRCm39) |
R963L |
unknown |
Het |
| Clip4 |
G |
T |
17: 72,113,527 (GRCm39) |
V226F |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,233,664 (GRCm39) |
S475P |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 10,171,960 (GRCm39) |
Y75H |
possibly damaging |
Het |
| Crtc1 |
T |
G |
8: 70,855,092 (GRCm39) |
H176P |
probably damaging |
Het |
| Cspg5 |
T |
C |
9: 110,085,502 (GRCm39) |
W558R |
unknown |
Het |
| Cyp2c39 |
A |
G |
19: 39,552,419 (GRCm39) |
T371A |
probably benign |
Het |
| Dcaf8 |
G |
A |
1: 172,000,199 (GRCm39) |
R119H |
probably benign |
Het |
| Drosha |
G |
T |
15: 12,924,187 (GRCm39) |
A1190S |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,288,886 (GRCm39) |
V5655A |
probably benign |
Het |
| Etnk1 |
C |
G |
6: 143,140,953 (GRCm39) |
|
probably benign |
Het |
| Flnc |
T |
A |
6: 29,440,499 (GRCm39) |
V269D |
probably benign |
Het |
| Foxs1 |
T |
A |
2: 152,775,058 (GRCm39) |
|
probably benign |
Het |
| Ftsj3 |
T |
C |
11: 106,141,595 (GRCm39) |
Y551C |
possibly damaging |
Het |
| Fzd6 |
A |
T |
15: 38,895,019 (GRCm39) |
H395L |
probably damaging |
Het |
| Grm6 |
C |
T |
11: 50,746,537 (GRCm39) |
A289V |
possibly damaging |
Het |
| Hook1 |
A |
G |
4: 95,910,468 (GRCm39) |
D694G |
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Igha |
T |
C |
12: 113,222,611 (GRCm39) |
E270G |
|
Het |
| Itga2b |
C |
A |
11: 102,356,288 (GRCm39) |
|
probably benign |
Het |
| Jade1 |
A |
C |
3: 41,568,148 (GRCm39) |
S739R |
probably benign |
Het |
| Lpin3 |
T |
C |
2: 160,738,674 (GRCm39) |
S209P |
probably benign |
Het |
| Ly6i |
A |
C |
15: 74,851,806 (GRCm39) |
L121R |
probably damaging |
Het |
| Ms4a1 |
C |
T |
19: 11,232,055 (GRCm39) |
V107I |
probably benign |
Het |
| Mycbpap |
T |
A |
11: 94,404,722 (GRCm39) |
T74S |
probably benign |
Het |
| Nlrp14 |
A |
G |
7: 106,796,436 (GRCm39) |
N921D |
probably benign |
Het |
| Nmur1 |
C |
T |
1: 86,314,103 (GRCm39) |
E388K |
probably benign |
Het |
| Nol4 |
T |
C |
18: 23,085,294 (GRCm39) |
Y40C |
probably damaging |
Het |
| Or1e1c |
T |
C |
11: 73,266,252 (GRCm39) |
S229P |
possibly damaging |
Het |
| Or51k1 |
A |
T |
7: 103,661,367 (GRCm39) |
C181S |
probably damaging |
Het |
| Or8b51 |
A |
T |
9: 38,569,621 (GRCm39) |
Y22* |
probably null |
Het |
| Pawr |
G |
A |
10: 108,247,861 (GRCm39) |
V283M |
possibly damaging |
Het |
| Pde6b |
T |
C |
5: 108,578,503 (GRCm39) |
Y814H |
probably benign |
Het |
| Pds5b |
T |
A |
5: 150,724,239 (GRCm39) |
L1272H |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,764,849 (GRCm39) |
T1350A |
probably benign |
Het |
| Plcz1 |
T |
A |
6: 139,961,903 (GRCm39) |
Q216L |
possibly damaging |
Het |
| Prodh |
A |
T |
16: 17,890,362 (GRCm39) |
C522S |
probably null |
Het |
| Rasef |
G |
T |
4: 73,708,960 (GRCm39) |
P91Q |
possibly damaging |
Het |
| Rgs14 |
G |
A |
13: 55,531,234 (GRCm39) |
|
probably benign |
Het |
| Rnase6 |
A |
T |
14: 51,367,632 (GRCm39) |
Y8F |
unknown |
Het |
| Rnf216 |
T |
A |
5: 143,076,180 (GRCm39) |
T235S |
probably benign |
Het |
| Slco2a1 |
G |
A |
9: 102,949,834 (GRCm39) |
|
probably null |
Het |
| Smoc1 |
A |
G |
12: 81,226,261 (GRCm39) |
E362G |
probably damaging |
Het |
| Sncaip |
T |
C |
18: 53,002,169 (GRCm39) |
L230P |
probably benign |
Het |
| Tdrd3 |
A |
G |
14: 87,743,597 (GRCm39) |
E515G |
possibly damaging |
Het |
| Tipin |
T |
A |
9: 64,195,385 (GRCm39) |
|
probably null |
Het |
| Tmem9 |
T |
A |
1: 135,955,145 (GRCm39) |
V93D |
possibly damaging |
Het |
| Tpm3-rs7 |
A |
C |
14: 113,552,756 (GRCm39) |
I217L |
probably benign |
Het |
| Ttc41 |
A |
T |
10: 86,566,956 (GRCm39) |
I541F |
possibly damaging |
Het |
| Uck2 |
T |
C |
1: 167,070,681 (GRCm39) |
D16G |
probably benign |
Het |
| Vmn1r50 |
A |
G |
6: 90,085,017 (GRCm39) |
D254G |
probably benign |
Het |
| Vmn2r57 |
A |
G |
7: 41,049,259 (GRCm39) |
V830A |
probably benign |
Het |
| Wwc2 |
T |
A |
8: 48,331,919 (GRCm39) |
R299S |
probably benign |
Het |
| Xdh |
C |
T |
17: 74,228,346 (GRCm39) |
G352R |
probably damaging |
Het |
| Xkr9 |
A |
T |
1: 13,770,990 (GRCm39) |
M169L |
probably benign |
Het |
| Zbtb10 |
A |
G |
3: 9,345,807 (GRCm39) |
D767G |
probably damaging |
Het |
| Zfp106 |
T |
C |
2: 120,366,077 (GRCm39) |
Y65C |
|
Het |
| Zfp536 |
A |
G |
7: 37,268,228 (GRCm39) |
L396P |
probably damaging |
Het |
| Znhit1 |
C |
A |
5: 137,011,408 (GRCm39) |
C135F |
probably damaging |
Het |
| Zscan5b |
A |
G |
7: 6,241,834 (GRCm39) |
E351G |
probably damaging |
Het |
|
| Other mutations in Vmn2r50 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01536:Vmn2r50
|
APN |
7 |
9,771,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01739:Vmn2r50
|
APN |
7 |
9,771,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02351:Vmn2r50
|
APN |
7 |
9,787,002 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02358:Vmn2r50
|
APN |
7 |
9,787,002 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02871:Vmn2r50
|
APN |
7 |
9,781,714 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02962:Vmn2r50
|
APN |
7 |
9,784,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03187:Vmn2r50
|
APN |
7 |
9,771,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03346:Vmn2r50
|
APN |
7 |
9,779,929 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4651001:Vmn2r50
|
UTSW |
7 |
9,771,659 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0530:Vmn2r50
|
UTSW |
7 |
9,781,644 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1291:Vmn2r50
|
UTSW |
7 |
9,771,404 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1438:Vmn2r50
|
UTSW |
7 |
9,784,062 (GRCm39) |
nonsense |
probably null |
|
|
R1713:Vmn2r50
|
UTSW |
7 |
9,771,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1747:Vmn2r50
|
UTSW |
7 |
9,781,605 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1750:Vmn2r50
|
UTSW |
7 |
9,786,915 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1918:Vmn2r50
|
UTSW |
7 |
9,781,610 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2435:Vmn2r50
|
UTSW |
7 |
9,787,026 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2511:Vmn2r50
|
UTSW |
7 |
9,781,640 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3795:Vmn2r50
|
UTSW |
7 |
9,771,851 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4156:Vmn2r50
|
UTSW |
7 |
9,774,309 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4332:Vmn2r50
|
UTSW |
7 |
9,786,922 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4399:Vmn2r50
|
UTSW |
7 |
9,781,834 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4411:Vmn2r50
|
UTSW |
7 |
9,784,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4412:Vmn2r50
|
UTSW |
7 |
9,784,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4413:Vmn2r50
|
UTSW |
7 |
9,784,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4645:Vmn2r50
|
UTSW |
7 |
9,771,162 (GRCm39) |
makesense |
probably null |
|
|
R5151:Vmn2r50
|
UTSW |
7 |
9,786,970 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5175:Vmn2r50
|
UTSW |
7 |
9,771,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5291:Vmn2r50
|
UTSW |
7 |
9,781,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5457:Vmn2r50
|
UTSW |
7 |
9,781,873 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5559:Vmn2r50
|
UTSW |
7 |
9,771,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5579:Vmn2r50
|
UTSW |
7 |
9,784,016 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5711:Vmn2r50
|
UTSW |
7 |
9,774,299 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5759:Vmn2r50
|
UTSW |
7 |
9,781,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6004:Vmn2r50
|
UTSW |
7 |
9,783,986 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6394:Vmn2r50
|
UTSW |
7 |
9,774,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6488:Vmn2r50
|
UTSW |
7 |
9,771,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6762:Vmn2r50
|
UTSW |
7 |
9,787,010 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6995:Vmn2r50
|
UTSW |
7 |
9,779,964 (GRCm39) |
nonsense |
probably null |
|
|
R6998:Vmn2r50
|
UTSW |
7 |
9,771,684 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7019:Vmn2r50
|
UTSW |
7 |
9,784,172 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7027:Vmn2r50
|
UTSW |
7 |
9,781,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7231:Vmn2r50
|
UTSW |
7 |
9,787,010 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7343:Vmn2r50
|
UTSW |
7 |
9,784,277 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7554:Vmn2r50
|
UTSW |
7 |
9,784,066 (GRCm39) |
missense |
probably null |
0.00 |
|
R7704:Vmn2r50
|
UTSW |
7 |
9,781,665 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7768:Vmn2r50
|
UTSW |
7 |
9,771,298 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7773:Vmn2r50
|
UTSW |
7 |
9,771,562 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7975:Vmn2r50
|
UTSW |
7 |
9,771,272 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7987:Vmn2r50
|
UTSW |
7 |
9,772,016 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7996:Vmn2r50
|
UTSW |
7 |
9,781,795 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8062:Vmn2r50
|
UTSW |
7 |
9,774,240 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8396:Vmn2r50
|
UTSW |
7 |
9,781,639 (GRCm39) |
nonsense |
probably null |
|
|
R8466:Vmn2r50
|
UTSW |
7 |
9,783,997 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9068:Vmn2r50
|
UTSW |
7 |
9,772,061 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9155:Vmn2r50
|
UTSW |
7 |
9,781,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9238:Vmn2r50
|
UTSW |
7 |
9,781,503 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9576:Vmn2r50
|
UTSW |
7 |
9,771,190 (GRCm39) |
missense |
probably benign |
|
|
R9626:Vmn2r50
|
UTSW |
7 |
9,771,960 (GRCm39) |
nonsense |
probably null |
|
|
R9631:Vmn2r50
|
UTSW |
7 |
9,786,990 (GRCm39) |
nonsense |
probably null |
|
|
X0067:Vmn2r50
|
UTSW |
7 |
9,786,954 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Vmn2r50
|
UTSW |
7 |
9,780,086 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Vmn2r50
|
UTSW |
7 |
9,771,427 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTCCAGAGGTTTAATTAAGGGAG -3'
(R):5'- GCCTTTGCTATAAAATCAGAATGC -3'
Sequencing Primer
(F):5'- AGGAGATTACATTGTCAAAAGAGC -3'
(R):5'- CAGAATGCATTTTATGACTTGAAGG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation