Incidental Mutation 'R3939:Or4c118'
| ID |
308583 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4c118
|
| Ensembl Gene |
ENSMUSG00000075100 |
| Gene Name |
olfactory receptor family 4 subfamily C member 118 |
| Synonyms |
MOR233-10, Olfr1223, GA_x6K02T2Q125-50623664-50622729 |
| MMRRC Submission |
040826-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R3939 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
88974430-88981680 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 88974474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 298
(K298*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150550
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099793]
[ENSMUST00000217342]
|
| AlphaFold |
A0A1L1SU13 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000099793
AA Change: K298*
|
| SMART Domains |
Protein: ENSMUSP00000097381
Gene: ENSMUSG00000075099
AA Change: K298*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
39 |
286 |
2e-26 |
PFAM |
|
Pfam:7tm_4
|
138 |
283 |
5.6e-37 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111554
AA Change: K298*
|
| SMART Domains |
Protein: ENSMUSP00000107179
Gene: ENSMUSG00000075100
AA Change: K298*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
3.1e-48 |
PFAM |
|
Pfam:7tm_1
|
39 |
286 |
1.6e-15 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000217342
AA Change: K298*
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (37/38) |
| 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 |
|---|
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| Atp13a2 |
T |
C |
4: 140,733,733 (GRCm39) |
S1041P |
probably damaging |
Het |
| Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
| Cacnb4 |
C |
A |
2: 52,359,501 (GRCm39) |
R169L |
probably damaging |
Het |
| Col13a1 |
T |
C |
10: 61,698,861 (GRCm39) |
I491V |
unknown |
Het |
| Corin |
T |
C |
5: 72,497,222 (GRCm39) |
D531G |
possibly damaging |
Het |
| Cx3cr1 |
C |
T |
9: 119,880,710 (GRCm39) |
V231I |
probably benign |
Het |
| Dennd4c |
T |
G |
4: 86,692,517 (GRCm39) |
V9G |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Faf1 |
T |
G |
4: 109,719,076 (GRCm39) |
L394R |
probably damaging |
Het |
| Fgfr4 |
G |
A |
13: 55,304,307 (GRCm39) |
D116N |
probably null |
Het |
| Flt3 |
A |
G |
5: 147,293,053 (GRCm39) |
Y518H |
possibly damaging |
Het |
| Frem3 |
T |
C |
8: 81,341,649 (GRCm39) |
I1314T |
possibly damaging |
Het |
| Gk2 |
T |
A |
5: 97,603,211 (GRCm39) |
L542F |
possibly damaging |
Het |
| Gm4922 |
T |
A |
10: 18,660,362 (GRCm39) |
E120V |
probably damaging |
Het |
| Hip1 |
A |
T |
5: 135,457,618 (GRCm39) |
I285N |
probably benign |
Het |
| Kcnd2 |
C |
A |
6: 21,217,095 (GRCm39) |
D266E |
probably damaging |
Het |
| Kdr |
C |
T |
5: 76,133,089 (GRCm39) |
W63* |
probably null |
Het |
| Kit |
A |
G |
5: 75,769,978 (GRCm39) |
D130G |
probably benign |
Het |
| Megf8 |
G |
A |
7: 25,058,627 (GRCm39) |
V2208I |
probably benign |
Het |
| Neto2 |
G |
A |
8: 86,400,747 (GRCm39) |
T16I |
probably damaging |
Het |
| Nktr |
T |
A |
9: 121,578,135 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
A |
G |
17: 90,515,849 (GRCm39) |
I1207T |
probably damaging |
Het |
| Obox7 |
G |
A |
7: 14,397,972 (GRCm39) |
G4D |
probably benign |
Het |
| Ogdh |
G |
A |
11: 6,300,655 (GRCm39) |
W827* |
probably null |
Het |
| Or13g1 |
T |
C |
7: 85,955,437 (GRCm39) |
M295V |
probably benign |
Het |
| Or4k15c |
A |
G |
14: 50,321,173 (GRCm39) |
*322Q |
probably null |
Het |
| Pcdhga9 |
G |
A |
18: 37,871,995 (GRCm39) |
R608H |
probably benign |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Sbpl |
T |
A |
17: 24,172,617 (GRCm39) |
I101L |
probably benign |
Het |
| Serpina9 |
T |
A |
12: 103,975,151 (GRCm39) |
M1L |
probably benign |
Het |
| Stxbp6 |
A |
G |
12: 44,949,641 (GRCm39) |
|
probably null |
Het |
| Synpo2 |
A |
G |
3: 122,908,239 (GRCm39) |
V359A |
probably damaging |
Het |
| Ttyh1 |
T |
A |
7: 4,132,317 (GRCm39) |
L155H |
probably damaging |
Het |
| Vil1 |
A |
G |
1: 74,471,574 (GRCm39) |
D785G |
probably benign |
Het |
| Zfp345 |
G |
A |
2: 150,314,473 (GRCm39) |
H355Y |
probably damaging |
Het |
|
| Other mutations in Or4c118 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01346:Or4c118
|
APN |
2 |
88,974,575 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL01560:Or4c118
|
APN |
2 |
88,974,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01817:Or4c118
|
APN |
2 |
88,974,702 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02669:Or4c118
|
APN |
2 |
88,974,564 (GRCm39) |
nonsense |
probably null |
|
|
IGL03270:Or4c118
|
APN |
2 |
88,975,089 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0062:Or4c118
|
UTSW |
2 |
88,974,966 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0062:Or4c118
|
UTSW |
2 |
88,974,966 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0304:Or4c118
|
UTSW |
2 |
88,975,108 (GRCm39) |
nonsense |
probably null |
|
|
R1651:Or4c118
|
UTSW |
2 |
88,975,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1971:Or4c118
|
UTSW |
2 |
88,975,078 (GRCm39) |
nonsense |
probably null |
|
|
R2006:Or4c118
|
UTSW |
2 |
88,975,241 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2101:Or4c118
|
UTSW |
2 |
88,975,301 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2410:Or4c118
|
UTSW |
2 |
88,974,899 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3683:Or4c118
|
UTSW |
2 |
88,975,364 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R3685:Or4c118
|
UTSW |
2 |
88,975,364 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R6162:Or4c118
|
UTSW |
2 |
88,975,114 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8431:Or4c118
|
UTSW |
2 |
88,974,723 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8842:Or4c118
|
UTSW |
2 |
88,975,074 (GRCm39) |
missense |
probably benign |
|
|
R9631:Or4c118
|
UTSW |
2 |
88,975,522 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGTGGGCCTAGCTGCTAG -3'
(R):5'- TGGATCCCACATTACTGTTGTGC -3'
Sequencing Primer
(F):5'- CCTAGCTGCTAGTGTGGGGTAAG -3'
(R):5'- GATCCCACATTACTGTTGTGCTTTTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation