Incidental Mutation 'R8540:Or1r1'
| ID |
659374 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1r1
|
| Ensembl Gene |
ENSMUSG00000049041 |
| Gene Name |
olfactory receptor family 1 subfamily JRmember 1 |
| Synonyms |
GA_x6K02T2P1NL-4141430-4140486, Olfr398, MOR157-1 |
| MMRRC Submission |
068506-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R8540 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
73874488-73875432 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73875153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 94
(F94L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053874]
[ENSMUST00000117510]
[ENSMUST00000214334]
|
| AlphaFold |
Q8VFY0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053874
AA Change: F94L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000059548
Gene: ENSMUSG00000049041
AA Change: F94L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
4e-50 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
3.5e-5 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.3e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117510
AA Change: F94L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113005
Gene: ENSMUSG00000049041
AA Change: F94L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
3.5e-5 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
6.4e-28 |
PFAM |
|
Pfam:7tm_4
|
140 |
283 |
4.7e-35 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214334
AA Change: F94L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (37/37) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp2 |
A |
T |
6: 140,579,437 (GRCm39) |
I225L |
probably benign |
Het |
| Aebp2 |
A |
G |
6: 140,579,439 (GRCm39) |
I225M |
probably benign |
Het |
| Ap2a1 |
C |
A |
7: 44,553,750 (GRCm39) |
G566C |
probably damaging |
Het |
| Cdk15 |
T |
C |
1: 59,349,992 (GRCm39) |
V328A |
possibly damaging |
Het |
| Cyld |
G |
A |
8: 89,473,568 (GRCm39) |
G929D |
probably damaging |
Het |
| Ddx50 |
G |
A |
10: 62,476,569 (GRCm39) |
L235F |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,208,767 (GRCm39) |
D813G |
probably damaging |
Het |
| Epb41l3 |
C |
T |
17: 69,593,757 (GRCm39) |
T797M |
probably damaging |
Het |
| Foxred2 |
G |
A |
15: 77,836,212 (GRCm39) |
R382W |
probably damaging |
Het |
| Gm5798 |
T |
A |
14: 41,070,674 (GRCm39) |
I28N |
possibly damaging |
Het |
| Grb14 |
C |
T |
2: 64,851,478 (GRCm39) |
V91M |
probably benign |
Het |
| Ints6 |
T |
C |
14: 62,934,353 (GRCm39) |
D718G |
probably benign |
Het |
| Man2a1 |
C |
A |
17: 64,965,982 (GRCm39) |
H307N |
probably benign |
Het |
| Mylk |
T |
C |
16: 34,750,257 (GRCm39) |
Y1199H |
possibly damaging |
Het |
| Nim1k |
T |
C |
13: 120,175,718 (GRCm39) |
S163G |
probably benign |
Het |
| Or51f5 |
G |
C |
7: 102,424,339 (GRCm39) |
A203P |
possibly damaging |
Het |
| Or5ac16 |
A |
T |
16: 59,022,323 (GRCm39) |
H155Q |
possibly damaging |
Het |
| Or8h6 |
C |
A |
2: 86,703,776 (GRCm39) |
C97F |
probably damaging |
Het |
| Phyhip |
A |
G |
14: 70,704,594 (GRCm39) |
D271G |
probably benign |
Het |
| Pramel27 |
T |
A |
4: 143,579,496 (GRCm39) |
S360R |
probably benign |
Het |
| Pycr2 |
G |
A |
1: 180,734,178 (GRCm39) |
A187T |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,630,367 (GRCm39) |
E2148V |
probably damaging |
Het |
| Septin12 |
T |
C |
16: 4,805,481 (GRCm39) |
H304R |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Ssx2ip |
T |
C |
3: 146,124,114 (GRCm39) |
V43A |
probably benign |
Het |
| Syne2 |
A |
T |
12: 76,141,148 (GRCm39) |
N6087Y |
probably damaging |
Het |
| Tbc1d4 |
A |
T |
14: 101,845,712 (GRCm39) |
I62N |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,573,337 (GRCm39) |
G24106D |
probably damaging |
Het |
| Uhrf1 |
T |
A |
17: 56,612,105 (GRCm39) |
I3N |
probably damaging |
Het |
| Urgcp |
A |
C |
11: 5,667,915 (GRCm39) |
L141R |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,274,858 (GRCm39) |
R1777H |
probably benign |
Het |
| Vamp3 |
A |
G |
4: 151,135,507 (GRCm39) |
V37A |
possibly damaging |
Het |
| Vmn1r172 |
C |
T |
7: 23,359,498 (GRCm39) |
L128F |
possibly damaging |
Het |
| Vmn1r76 |
A |
G |
7: 11,664,897 (GRCm39) |
Y71H |
probably damaging |
Het |
| Vmn2r111 |
C |
T |
17: 22,778,023 (GRCm39) |
|
probably null |
Het |
| Vmn2r111 |
T |
A |
17: 22,778,024 (GRCm39) |
N552Y |
probably damaging |
Het |
| Vmn2r81 |
A |
T |
10: 79,129,065 (GRCm39) |
N652I |
probably damaging |
Het |
| Vmn2r87 |
T |
C |
10: 130,314,762 (GRCm39) |
N275D |
possibly damaging |
Het |
| Wrn |
T |
A |
8: 33,842,154 (GRCm39) |
I47F |
probably damaging |
Het |
|
| Other mutations in Or1r1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01084:Or1r1
|
APN |
11 |
73,875,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01116:Or1r1
|
APN |
11 |
73,875,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Or1r1
|
UTSW |
11 |
73,874,538 (GRCm39) |
missense |
probably benign |
|
|
R0242:Or1r1
|
UTSW |
11 |
73,874,538 (GRCm39) |
missense |
probably benign |
|
|
R0647:Or1r1
|
UTSW |
11 |
73,874,597 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0906:Or1r1
|
UTSW |
11 |
73,874,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1581:Or1r1
|
UTSW |
11 |
73,875,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1792:Or1r1
|
UTSW |
11 |
73,874,673 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1832:Or1r1
|
UTSW |
11 |
73,875,319 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1879:Or1r1
|
UTSW |
11 |
73,875,368 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2138:Or1r1
|
UTSW |
11 |
73,875,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2988:Or1r1
|
UTSW |
11 |
73,874,627 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4557:Or1r1
|
UTSW |
11 |
73,875,425 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4606:Or1r1
|
UTSW |
11 |
73,874,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4777:Or1r1
|
UTSW |
11 |
73,875,221 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4783:Or1r1
|
UTSW |
11 |
73,874,834 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5047:Or1r1
|
UTSW |
11 |
73,875,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5696:Or1r1
|
UTSW |
11 |
73,875,362 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6379:Or1r1
|
UTSW |
11 |
73,875,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7166:Or1r1
|
UTSW |
11 |
73,875,121 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7254:Or1r1
|
UTSW |
11 |
73,874,603 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7324:Or1r1
|
UTSW |
11 |
73,874,669 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7444:Or1r1
|
UTSW |
11 |
73,874,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7831:Or1r1
|
UTSW |
11 |
73,875,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0012:Or1r1
|
UTSW |
11 |
73,875,120 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCACAAAAGAAGTGGCGC -3'
(R):5'- TACCTACTCAATGCCCTGGG -3'
Sequencing Primer
(F):5'- AGTGCAGATGGGCCACAGC -3'
(R):5'- CCTGGGCAATCTGAGCATG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation