Incidental Mutation 'R5466:Or4c117'
| ID |
433229 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4c117
|
| Ensembl Gene |
ENSMUSG00000075101 |
| Gene Name |
olfactory receptor family 4 subfamily C member 117 |
| Synonyms |
MOR233-14, Olfr1222, GA_x6K02T2Q125-50604368-50603433 |
| MMRRC Submission |
043027-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R5466 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
88955138-88956073 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88955477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 199
(F199L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150144
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099794]
[ENSMUST00000214027]
[ENSMUST00000215816]
|
| AlphaFold |
Q7TR02 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099794
AA Change: F199L
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000097382
Gene: ENSMUSG00000075101
AA Change: F199L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
1.3e-44 |
PFAM |
|
Pfam:7tm_1
|
39 |
286 |
4.8e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137595
AA Change: F199L
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000120074
Gene: ENSMUSG00000075101
AA Change: F199L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
39 |
217 |
1.9e-22 |
PFAM |
|
Pfam:7tm_4
|
138 |
217 |
1.4e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214027
AA Change: F199L
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215816
AA Change: F199L
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.5%
|
| 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 |
|---|
| 4932414N04Rik |
C |
A |
2: 68,541,733 (GRCm39) |
A17E |
probably benign |
Het |
| Actc1 |
T |
C |
2: 113,880,979 (GRCm39) |
D82G |
probably damaging |
Het |
| Aox1 |
G |
C |
1: 58,080,619 (GRCm39) |
E23Q |
probably damaging |
Het |
| Arap3 |
A |
G |
18: 38,129,789 (GRCm39) |
V124A |
probably benign |
Het |
| Armc5 |
A |
G |
7: 127,839,336 (GRCm39) |
N218S |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,451,712 (GRCm39) |
V192E |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,808,282 (GRCm39) |
E922V |
unknown |
Het |
| Dennd4b |
G |
A |
3: 90,175,807 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,493,007 (GRCm39) |
D1256G |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dpy19l1 |
T |
C |
9: 24,325,684 (GRCm39) |
E707G |
probably damaging |
Het |
| Farp1 |
C |
T |
14: 121,472,489 (GRCm39) |
P208L |
probably damaging |
Het |
| Fgf11 |
T |
C |
11: 69,690,267 (GRCm39) |
I107V |
probably damaging |
Het |
| Fuca2 |
C |
T |
10: 13,388,441 (GRCm39) |
Q406* |
probably null |
Het |
| Gm10428 |
A |
G |
11: 62,643,932 (GRCm39) |
|
probably benign |
Het |
| Gm17430 |
A |
G |
18: 9,726,228 (GRCm39) |
V148A |
probably benign |
Het |
| Gm5930 |
A |
T |
14: 44,575,014 (GRCm39) |
N57K |
probably damaging |
Het |
| Gucy2c |
T |
A |
6: 136,758,463 (GRCm39) |
K48* |
probably null |
Het |
| Ip6k2 |
C |
T |
9: 108,675,661 (GRCm39) |
R109C |
probably damaging |
Het |
| Kif21b |
T |
A |
1: 136,075,263 (GRCm39) |
F159I |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,346,658 (GRCm39) |
S1981T |
possibly damaging |
Het |
| Mga |
T |
A |
2: 119,733,178 (GRCm39) |
L9M |
probably damaging |
Het |
| Mov10l1 |
T |
C |
15: 88,869,904 (GRCm39) |
|
probably null |
Het |
| Msrb1 |
A |
T |
17: 24,958,533 (GRCm39) |
H39L |
possibly damaging |
Het |
| Or6b1 |
A |
T |
6: 42,815,027 (GRCm39) |
T71S |
probably benign |
Het |
| Pcdha1 |
G |
A |
18: 37,065,312 (GRCm39) |
A659T |
possibly damaging |
Het |
| Pcm1 |
T |
A |
8: 41,725,499 (GRCm39) |
|
probably null |
Het |
| Rfpl4b |
C |
A |
10: 38,697,394 (GRCm39) |
C69F |
probably damaging |
Het |
| Tnn |
G |
A |
1: 159,948,106 (GRCm39) |
T869I |
possibly damaging |
Het |
| Trp53i11 |
C |
A |
2: 93,029,728 (GRCm39) |
L121I |
possibly damaging |
Het |
| Uimc1 |
A |
G |
13: 55,223,661 (GRCm39) |
S204P |
probably damaging |
Het |
| Usp43 |
A |
T |
11: 67,804,709 (GRCm39) |
N169K |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,217,243 (GRCm39) |
|
probably null |
Het |
| Vmn2r115 |
A |
G |
17: 23,579,030 (GRCm39) |
I834M |
probably damaging |
Het |
| Zbtb21 |
A |
G |
16: 97,751,698 (GRCm39) |
S690P |
possibly damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
|
| Other mutations in Or4c117 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01160:Or4c117
|
APN |
2 |
88,956,072 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
IGL01876:Or4c117
|
APN |
2 |
88,956,081 (GRCm39) |
splice site |
probably null |
|
|
IGL02090:Or4c117
|
APN |
2 |
88,956,021 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL03230:Or4c117
|
APN |
2 |
88,955,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3907:Or4c117
|
UTSW |
2 |
88,955,927 (GRCm39) |
nonsense |
probably null |
|
|
R4272:Or4c117
|
UTSW |
2 |
88,955,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4975:Or4c117
|
UTSW |
2 |
88,955,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4981:Or4c117
|
UTSW |
2 |
88,955,845 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5768:Or4c117
|
UTSW |
2 |
88,955,793 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7296:Or4c117
|
UTSW |
2 |
88,955,180 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7757:Or4c117
|
UTSW |
2 |
88,955,333 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8414:Or4c117
|
UTSW |
2 |
88,956,058 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8911:Or4c117
|
UTSW |
2 |
88,955,608 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9003:Or4c117
|
UTSW |
2 |
88,956,024 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9105:Or4c117
|
UTSW |
2 |
88,955,995 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9407:Or4c117
|
UTSW |
2 |
88,955,629 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGTGCATATATTAGCATACATGGG -3'
(R):5'- CTATGTGGCCATCTGCAAGC -3'
Sequencing Primer
(F):5'- GAGCTGTGACCTCTTAGA -3'
(R):5'- TCTTCCATCATGACCAGGAGG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation