Incidental Mutation 'S24628:Vmn1r22'
| ID |
385656 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r22
|
| Ensembl Gene |
ENSMUSG00000115091 |
| Gene Name |
vomeronasal 1 receptor 22 |
| Synonyms |
V1rc23 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
S24628 ()
of strain
waterfowl
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
57877067-57877975 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 57877317 bp (GRCm39)
|
| Zygosity |
Homozygous |
| Amino Acid Change |
Threonine to Lysine
at position 220
(T220K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154301
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000177435]
[ENSMUST00000227342]
[ENSMUST00000227650]
[ENSMUST00000228076]
[ENSMUST00000228257]
[ENSMUST00000228322]
[ENSMUST00000228905]
|
| AlphaFold |
Q8R2D1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177435
AA Change: T220K
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000135207
Gene: ENSMUSG00000114982
AA Change: T220K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
3.9e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227342
AA Change: T30K
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227650
AA Change: T220K
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228076
AA Change: T220K
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228257
AA Change: T220K
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228322
AA Change: T220K
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228905
AA Change: T30K
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.1%
- 3x: 97.0%
- 10x: 94.3%
- 20x: 88.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
G |
A |
17: 56,159,288 (GRCm39) |
V658I |
probably benign |
Het |
| Ccdc40 |
T |
C |
11: 119,122,944 (GRCm39) |
Y249H |
possibly damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Homo |
| Gbp4 |
G |
A |
5: 105,268,972 (GRCm39) |
R394C |
possibly damaging |
Het |
| Gpr183 |
C |
A |
14: 122,191,888 (GRCm39) |
C211F |
probably damaging |
Homo |
| Lcp1 |
A |
T |
14: 75,464,446 (GRCm39) |
I556F |
possibly damaging |
Het |
| Letm1 |
G |
A |
5: 33,904,788 (GRCm39) |
P513S |
probably benign |
Het |
| Letm1 |
G |
A |
5: 33,904,790 (GRCm39) |
P512L |
probably benign |
Het |
| Msh3 |
A |
G |
13: 92,483,294 (GRCm39) |
V283A |
possibly damaging |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Npr3 |
C |
A |
15: 11,848,649 (GRCm39) |
M439I |
probably benign |
Het |
| Or5m10 |
A |
T |
2: 85,717,782 (GRCm39) |
I213F |
possibly damaging |
Het |
| Or5m9 |
A |
T |
2: 85,877,399 (GRCm39) |
H191L |
probably benign |
Het |
| Pax5 |
G |
A |
4: 44,691,886 (GRCm39) |
A120V |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,179,419 (GRCm39) |
Y609C |
probably damaging |
Het |
| Plxna1 |
G |
A |
6: 89,334,318 (GRCm39) |
H104Y |
probably benign |
Homo |
| Rnf213 |
A |
T |
11: 119,305,295 (GRCm39) |
I509F |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,884,042 (GRCm39) |
S213G |
probably damaging |
Homo |
| Spint1 |
A |
G |
2: 119,076,096 (GRCm39) |
T231A |
probably damaging |
Het |
| Tbcel |
C |
A |
9: 42,355,796 (GRCm39) |
C139F |
probably benign |
Het |
| Thbs2 |
A |
C |
17: 14,900,235 (GRCm39) |
S573A |
probably benign |
Het |
| Tmem43 |
C |
A |
6: 91,459,300 (GRCm39) |
P257Q |
probably benign |
Homo |
| Tmprss13 |
A |
G |
9: 45,248,430 (GRCm39) |
|
probably null |
Het |
| Tnc |
C |
T |
4: 63,936,249 (GRCm39) |
G229D |
probably damaging |
Homo |
| Ugt1a10 |
TTCATCA |
TTCA |
1: 88,143,880 (GRCm39) |
|
probably benign |
Het |
| Vmn1r196 |
T |
A |
13: 22,478,006 (GRCm39) |
V215D |
probably damaging |
Homo |
| Vmn2r116 |
G |
A |
17: 23,606,253 (GRCm39) |
M388I |
possibly damaging |
Het |
| Zap70 |
A |
G |
1: 36,809,892 (GRCm39) |
M1V |
probably null |
Homo |
| Zfp282 |
A |
G |
6: 47,874,815 (GRCm39) |
D340G |
probably damaging |
Homo |
| Zfp282 |
T |
A |
6: 47,881,987 (GRCm39) |
I558N |
possibly damaging |
Homo |
|
| Other mutations in Vmn1r22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0089:Vmn1r22
|
UTSW |
6 |
57,877,513 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0415:Vmn1r22
|
UTSW |
6 |
57,877,317 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1132:Vmn1r22
|
UTSW |
6 |
57,877,826 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1609:Vmn1r22
|
UTSW |
6 |
57,877,733 (GRCm39) |
nonsense |
probably null |
|
|
R1666:Vmn1r22
|
UTSW |
6 |
57,877,704 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1668:Vmn1r22
|
UTSW |
6 |
57,877,704 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1708:Vmn1r22
|
UTSW |
6 |
57,877,481 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1796:Vmn1r22
|
UTSW |
6 |
57,877,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2359:Vmn1r22
|
UTSW |
6 |
57,877,974 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R4600:Vmn1r22
|
UTSW |
6 |
57,877,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5302:Vmn1r22
|
UTSW |
6 |
57,877,960 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5560:Vmn1r22
|
UTSW |
6 |
57,877,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6026:Vmn1r22
|
UTSW |
6 |
57,877,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6066:Vmn1r22
|
UTSW |
6 |
57,877,864 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6343:Vmn1r22
|
UTSW |
6 |
57,877,563 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6639:Vmn1r22
|
UTSW |
6 |
57,877,699 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7106:Vmn1r22
|
UTSW |
6 |
57,877,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7683:Vmn1r22
|
UTSW |
6 |
57,877,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8126:Vmn1r22
|
UTSW |
6 |
57,877,669 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9216:Vmn1r22
|
UTSW |
6 |
57,877,257 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9486:Vmn1r22
|
UTSW |
6 |
57,877,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9707:Vmn1r22
|
UTSW |
6 |
57,877,890 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9722:Vmn1r22
|
UTSW |
6 |
57,877,631 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTCTGGTGGCATTTTAGC -3'
(R):5'- AAAACCTGTTCACACTTTCCCATG -3'
Sequencing Primer
(F):5'- GCCACAAGTTTTTCAGCACATTG -3'
(R):5'- TTTCCCATGAACAACATCATCAAGG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation