Incidental Mutation 'R4323:Or2y1f'
| ID |
323924 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2y1f
|
| Ensembl Gene |
ENSMUSG00000101750 |
| Gene Name |
olfactory receptor family 2 subfamily Y member 1F |
| Synonyms |
GA_x6K02T2QP88-6141322-6140387, MOR256-25, Olfr1392 |
| MMRRC Submission |
041094-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R4323 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
49184124-49185149 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 49184503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 118
(M118I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149746
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000189851]
[ENSMUST00000214170]
[ENSMUST00000214598]
[ENSMUST00000215861]
[ENSMUST00000217275]
|
| AlphaFold |
Q8VFA6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189851
AA Change: M118I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140904
Gene: ENSMUSG00000101750
AA Change: M118I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
35 |
222 |
7.1e-8 |
PFAM |
|
Pfam:7tm_1
|
41 |
289 |
2.4e-32 |
PFAM |
|
Pfam:7tm_4
|
139 |
282 |
1.8e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213684
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214170
AA Change: M118I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214516
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214598
AA Change: M118I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215861
AA Change: M118I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217275
AA Change: M118I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.1515 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
95% (59/62) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
A |
G |
4: 62,465,548 (GRCm39) |
Y414C |
probably damaging |
Het |
| Akr1b1 |
T |
C |
6: 34,287,862 (GRCm39) |
T166A |
probably benign |
Het |
| Ankhd1 |
C |
T |
18: 36,711,686 (GRCm39) |
S94L |
probably damaging |
Het |
| B4galt3 |
G |
T |
1: 171,103,515 (GRCm39) |
M68I |
possibly damaging |
Het |
| Bpnt1 |
A |
C |
1: 185,088,786 (GRCm39) |
H312P |
probably benign |
Het |
| Ccdc178 |
T |
A |
18: 22,166,600 (GRCm39) |
K530* |
probably null |
Het |
| Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
| Clasp2 |
T |
C |
9: 113,719,027 (GRCm39) |
V724A |
possibly damaging |
Het |
| Copa |
G |
T |
1: 171,946,831 (GRCm39) |
C1022F |
probably damaging |
Het |
| Cwf19l2 |
T |
G |
9: 3,430,452 (GRCm39) |
F261L |
probably damaging |
Het |
| Esr1 |
G |
A |
10: 4,951,307 (GRCm39) |
V562M |
possibly damaging |
Het |
| Fap |
T |
C |
2: 62,333,716 (GRCm39) |
H643R |
probably damaging |
Het |
| Fbxo38 |
T |
A |
18: 62,648,232 (GRCm39) |
M769L |
probably benign |
Het |
| Fgfr1 |
A |
G |
8: 26,063,915 (GRCm39) |
N814S |
probably benign |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Hspa1l |
T |
A |
17: 35,196,832 (GRCm39) |
Y290* |
probably null |
Het |
| Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
| Jam2 |
T |
C |
16: 84,619,744 (GRCm39) |
|
probably benign |
Het |
| Kprp |
G |
A |
3: 92,732,163 (GRCm39) |
R296W |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,746,603 (GRCm39) |
I14T |
probably benign |
Het |
| Mitf |
A |
G |
6: 97,968,910 (GRCm39) |
Y10C |
probably benign |
Het |
| Mpo |
T |
C |
11: 87,686,865 (GRCm39) |
S165P |
probably damaging |
Het |
| Neb |
T |
G |
2: 52,154,122 (GRCm39) |
M2330L |
possibly damaging |
Het |
| Nup214 |
T |
C |
2: 31,884,696 (GRCm39) |
S486P |
probably benign |
Het |
| Parp6 |
G |
A |
9: 59,537,969 (GRCm39) |
V205I |
possibly damaging |
Het |
| Pate2 |
A |
T |
9: 35,581,767 (GRCm39) |
|
probably benign |
Het |
| Pdss1 |
T |
C |
2: 22,802,608 (GRCm39) |
|
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Septin1 |
G |
A |
7: 126,816,200 (GRCm39) |
P77S |
probably damaging |
Het |
| Slitrk3 |
A |
G |
3: 72,958,118 (GRCm39) |
L218P |
probably damaging |
Het |
| Sltm |
T |
C |
9: 70,487,529 (GRCm39) |
I521T |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,735,270 (GRCm39) |
I618T |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
| Sp8 |
A |
G |
12: 118,812,171 (GRCm39) |
I9V |
probably benign |
Het |
| Usp9y |
T |
A |
Y: 1,434,407 (GRCm39) |
M352L |
possibly damaging |
Het |
| Vmn1r46 |
T |
C |
6: 89,953,349 (GRCm39) |
M66T |
probably benign |
Het |
| Vmn2r111 |
A |
T |
17: 22,792,159 (GRCm39) |
N32K |
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
| Vps13d |
T |
A |
4: 144,879,348 (GRCm39) |
T1486S |
probably benign |
Het |
| Wdr55 |
A |
G |
18: 36,896,153 (GRCm39) |
N281S |
probably benign |
Het |
| Zswim6 |
G |
A |
13: 108,025,938 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Or2y1f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01066:Or2y1f
|
APN |
11 |
49,184,457 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02530:Or2y1f
|
APN |
11 |
49,184,555 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL03026:Or2y1f
|
APN |
11 |
49,184,285 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03106:Or2y1f
|
APN |
11 |
49,184,988 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0357:Or2y1f
|
UTSW |
11 |
49,184,613 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0396:Or2y1f
|
UTSW |
11 |
49,184,165 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2281:Or2y1f
|
UTSW |
11 |
49,184,459 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4319:Or2y1f
|
UTSW |
11 |
49,184,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4320:Or2y1f
|
UTSW |
11 |
49,184,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4322:Or2y1f
|
UTSW |
11 |
49,184,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5327:Or2y1f
|
UTSW |
11 |
49,184,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6749:Or2y1f
|
UTSW |
11 |
49,184,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7779:Or2y1f
|
UTSW |
11 |
49,185,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8122:Or2y1f
|
UTSW |
11 |
49,184,401 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8356:Or2y1f
|
UTSW |
11 |
49,184,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8456:Or2y1f
|
UTSW |
11 |
49,184,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8737:Or2y1f
|
UTSW |
11 |
49,184,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8746:Or2y1f
|
UTSW |
11 |
49,183,993 (GRCm39) |
intron |
probably benign |
|
|
R9375:Or2y1f
|
UTSW |
11 |
49,184,902 (GRCm39) |
nonsense |
probably null |
|
|
X0012:Or2y1f
|
UTSW |
11 |
49,184,760 (GRCm39) |
missense |
probably benign |
0.36 |
|
X0025:Or2y1f
|
UTSW |
11 |
49,184,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGAACACTGCCATCATCG -3'
(R):5'- GATTCAGTCGATGTCCACAGAG -3'
Sequencing Primer
(F):5'- TCCCGAATGGACCTTCAACTG -3'
(R):5'- TACCCAGGAAGCAATAGC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation