Incidental Mutation 'R5606:Or51r1'
| ID |
439294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or51r1
|
| Ensembl Gene |
ENSMUSG00000073975 |
| Gene Name |
olfactory receptor family 51 subfamily R member 1 |
| Synonyms |
GA_x6K02T2PBJ9-5297243-5298193, Olfr550, MOR16-1 |
| MMRRC Submission |
043157-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R5606 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
102220638-102228869 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102228481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 260
(S260P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149536
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098225]
[ENSMUST00000213540]
[ENSMUST00000216524]
|
| AlphaFold |
E9Q544 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098225
AA Change: S260P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095828
Gene: ENSMUSG00000073975
AA Change: S260P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
311 |
6.2e-102 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
36 |
156 |
1.8e-10 |
PFAM |
|
Pfam:7tm_1
|
42 |
293 |
4.6e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213540
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216524
AA Change: S260P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a7 |
A |
G |
19: 20,699,731 (GRCm39) |
S75P |
probably damaging |
Het |
| Ankib1 |
A |
T |
5: 3,751,907 (GRCm39) |
I711N |
probably damaging |
Het |
| Ankmy2 |
A |
G |
12: 36,215,920 (GRCm39) |
N40S |
probably benign |
Het |
| Armc8 |
T |
C |
9: 99,418,315 (GRCm39) |
K80E |
probably benign |
Het |
| Blm |
C |
A |
7: 80,110,580 (GRCm39) |
|
probably null |
Het |
| Cand1 |
C |
A |
10: 119,047,359 (GRCm39) |
Q710H |
possibly damaging |
Het |
| Ckap2l |
A |
T |
2: 129,127,959 (GRCm39) |
I73N |
probably damaging |
Het |
| Ddx27 |
T |
A |
2: 166,861,886 (GRCm39) |
D129E |
probably benign |
Het |
| Dnm3 |
T |
C |
1: 162,113,587 (GRCm39) |
E491G |
probably damaging |
Het |
| Fgd6 |
C |
A |
10: 93,974,190 (GRCm39) |
Y1310* |
probably null |
Het |
| Hnrnph3 |
C |
T |
10: 62,855,222 (GRCm39) |
R21H |
possibly damaging |
Het |
| Hs3st4 |
C |
A |
7: 123,996,365 (GRCm39) |
Q344K |
probably damaging |
Het |
| Hyal3 |
T |
C |
9: 107,462,265 (GRCm39) |
S100P |
probably benign |
Het |
| Map3k19 |
G |
A |
1: 127,750,694 (GRCm39) |
R886C |
probably benign |
Het |
| Mmrn2 |
G |
A |
14: 34,119,581 (GRCm39) |
D187N |
probably damaging |
Het |
| Myo5c |
G |
A |
9: 75,182,790 (GRCm39) |
A810T |
probably damaging |
Het |
| Noxa1 |
T |
A |
2: 24,976,292 (GRCm39) |
E332V |
possibly damaging |
Het |
| Or10al7 |
T |
C |
17: 38,365,693 (GRCm39) |
T264A |
probably damaging |
Het |
| Or12j5 |
T |
A |
7: 140,083,713 (GRCm39) |
I220F |
probably damaging |
Het |
| Or7c70 |
A |
G |
10: 78,683,395 (GRCm39) |
M118T |
probably benign |
Het |
| Parg |
T |
A |
14: 31,984,693 (GRCm39) |
V241E |
probably damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,610,101 (GRCm39) |
V391D |
probably damaging |
Het |
| Plch1 |
A |
T |
3: 63,648,108 (GRCm39) |
V421E |
probably benign |
Het |
| Slc27a2 |
C |
T |
2: 126,406,610 (GRCm39) |
A98V |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,047,468 (GRCm39) |
H1704L |
probably damaging |
Het |
| Tbpl2 |
G |
A |
2: 23,977,245 (GRCm39) |
P258S |
possibly damaging |
Het |
| Thoc2l |
T |
C |
5: 104,669,744 (GRCm39) |
I1422T |
probably benign |
Het |
| Tlr11 |
T |
C |
14: 50,599,717 (GRCm39) |
C568R |
probably benign |
Het |
| Tmem260 |
T |
A |
14: 48,722,437 (GRCm39) |
M324K |
probably damaging |
Het |
| Tmprss11g |
T |
A |
5: 86,635,269 (GRCm39) |
T402S |
probably damaging |
Het |
| Trim21 |
C |
G |
7: 102,208,813 (GRCm39) |
R302P |
probably damaging |
Het |
| Uox |
T |
A |
3: 146,316,057 (GRCm39) |
Y21* |
probably null |
Het |
| Vmn1r74 |
A |
G |
7: 11,580,822 (GRCm39) |
M41V |
probably benign |
Het |
| Vmn2r59 |
A |
C |
7: 41,695,318 (GRCm39) |
S365A |
probably benign |
Het |
| Zfp345 |
A |
T |
2: 150,316,788 (GRCm39) |
Y6* |
probably null |
Het |
| Zpld2 |
A |
C |
4: 133,927,523 (GRCm39) |
V410G |
probably benign |
Het |
|
| Other mutations in Or51r1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01946:Or51r1
|
APN |
7 |
102,227,734 (GRCm39) |
splice site |
probably null |
|
|
IGL02605:Or51r1
|
APN |
7 |
102,228,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03365:Or51r1
|
APN |
7 |
102,227,836 (GRCm39) |
missense |
probably benign |
|
|
R0180:Or51r1
|
UTSW |
7 |
102,228,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3854:Or51r1
|
UTSW |
7 |
102,228,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5337:Or51r1
|
UTSW |
7 |
102,228,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5646:Or51r1
|
UTSW |
7 |
102,228,512 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6009:Or51r1
|
UTSW |
7 |
102,227,801 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6751:Or51r1
|
UTSW |
7 |
102,227,706 (GRCm39) |
start codon destroyed |
probably null |
|
|
R7767:Or51r1
|
UTSW |
7 |
102,220,971 (GRCm39) |
start gained |
probably benign |
|
|
R8701:Or51r1
|
UTSW |
7 |
102,227,899 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9074:Or51r1
|
UTSW |
7 |
102,228,433 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9101:Or51r1
|
UTSW |
7 |
102,228,137 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9151:Or51r1
|
UTSW |
7 |
102,228,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9745:Or51r1
|
UTSW |
7 |
102,227,861 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0067:Or51r1
|
UTSW |
7 |
102,227,707 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCTACTGTCTGCACTGC -3'
(R):5'- GAAATATCAACCCTCTTCTGCTG -3'
Sequencing Primer
(F):5'- ACTGGCTTGCTCAGACAC -3'
(R):5'- TCTGCTGGAAACGCCTTAAG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation