Incidental Mutation 'R0100:Or4c120'
| ID |
212471 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4c120
|
| Ensembl Gene |
ENSMUSG00000101918 |
| Gene Name |
olfactory receptor family 4 subfamily C member 120 |
| Synonyms |
Olfr1225, GA_x6K02T2Q125-50650037-50649102, MOR233-11 |
| MMRRC Submission |
038386-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R0100 (G1)
|
| Quality Score |
61 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
89000563-89001589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 89001431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 42
(I42F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000188861]
[ENSMUST00000216961]
[ENSMUST00000217054]
|
| AlphaFold |
Q7TR01 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099791
AA Change: I42F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000097379
Gene: ENSMUSG00000075098
AA Change: I42F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
4e-47 |
PFAM |
|
Pfam:7tm_1
|
39 |
304 |
2.7e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188861
AA Change: I42F
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000140442
Gene: ENSMUSG00000101918
AA Change: I42F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
32 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
39 |
289 |
5.5e-24 |
PFAM |
|
Pfam:7tm_4
|
138 |
287 |
2.3e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216961
AA Change: I42F
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217054
AA Change: I42F
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (56/56) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
G |
4: 156,259,415 (GRCm39) |
C814R |
probably damaging |
Het |
| Bbof1 |
T |
A |
12: 84,457,829 (GRCm39) |
D31E |
probably benign |
Het |
| Ccdc51 |
C |
T |
9: 108,921,066 (GRCm39) |
Q318* |
probably null |
Het |
| Cpxm2 |
T |
A |
7: 131,656,600 (GRCm39) |
H554L |
possibly damaging |
Het |
| Dbr1 |
T |
A |
9: 99,465,722 (GRCm39) |
D433E |
probably benign |
Het |
| Ddx55 |
C |
T |
5: 124,694,845 (GRCm39) |
T91I |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,582,585 (GRCm39) |
D340G |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 30,984,109 (GRCm39) |
|
probably null |
Het |
| Dpp9 |
C |
T |
17: 56,512,854 (GRCm39) |
G118D |
possibly damaging |
Het |
| Fam81a |
C |
T |
9: 70,010,091 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
C |
3: 39,034,397 (GRCm39) |
N2683T |
probably damaging |
Het |
| Fbxo47 |
C |
T |
11: 97,759,432 (GRCm39) |
G165S |
probably damaging |
Het |
| Garre1 |
A |
G |
7: 33,953,436 (GRCm39) |
I442T |
possibly damaging |
Het |
| Gpatch2 |
C |
A |
1: 186,958,014 (GRCm39) |
A123E |
probably damaging |
Het |
| Greb1 |
T |
A |
12: 16,730,225 (GRCm39) |
Q1734L |
probably benign |
Het |
| Gtf2ird2 |
T |
C |
5: 134,245,857 (GRCm39) |
L705P |
probably damaging |
Het |
| H13 |
T |
A |
2: 152,531,783 (GRCm39) |
|
probably null |
Het |
| Hip1 |
T |
C |
5: 135,465,307 (GRCm39) |
D367G |
probably benign |
Het |
| Ift140 |
C |
T |
17: 25,309,928 (GRCm39) |
Q1112* |
probably null |
Het |
| Il17b |
A |
G |
18: 61,823,342 (GRCm39) |
M59V |
probably benign |
Het |
| Lpin3 |
T |
C |
2: 160,747,260 (GRCm39) |
Y829H |
probably damaging |
Het |
| Mocs3 |
C |
T |
2: 168,073,110 (GRCm39) |
R186C |
probably damaging |
Het |
| Or10al5 |
T |
C |
17: 38,063,594 (GRCm39) |
F283S |
probably benign |
Het |
| Or2bd2 |
C |
T |
7: 6,443,399 (GRCm39) |
R167C |
probably damaging |
Het |
| Or5be3 |
T |
C |
2: 86,863,939 (GRCm39) |
T209A |
probably benign |
Het |
| Osgepl1 |
A |
G |
1: 53,362,372 (GRCm39) |
I405V |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,091,105 (GRCm39) |
S360P |
probably benign |
Het |
| Plekhs1 |
A |
G |
19: 56,466,934 (GRCm39) |
E255G |
probably damaging |
Het |
| Tex22 |
T |
A |
12: 113,052,392 (GRCm39) |
I150N |
probably benign |
Het |
| Tmem106a |
T |
C |
11: 101,477,084 (GRCm39) |
S98P |
probably benign |
Het |
| Tnfrsf18 |
A |
G |
4: 156,112,823 (GRCm39) |
T170A |
probably benign |
Het |
| Trpc6 |
C |
T |
9: 8,653,035 (GRCm39) |
P614S |
probably damaging |
Het |
| Usp28 |
C |
A |
9: 48,947,232 (GRCm39) |
P566Q |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,215,947 (GRCm39) |
F811L |
possibly damaging |
Het |
|
| Other mutations in Or4c120 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03230:Or4c120
|
APN |
2 |
89,001,433 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL03381:Or4c120
|
APN |
2 |
89,001,523 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL03147:Or4c120
|
UTSW |
2 |
89,001,316 (GRCm39) |
missense |
probably benign |
0.03 |
|
PIT4458001:Or4c120
|
UTSW |
2 |
89,000,977 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0373:Or4c120
|
UTSW |
2 |
89,000,757 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0482:Or4c120
|
UTSW |
2 |
89,000,975 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0491:Or4c120
|
UTSW |
2 |
89,000,704 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0548:Or4c120
|
UTSW |
2 |
89,000,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1123:Or4c120
|
UTSW |
2 |
89,001,212 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1511:Or4c120
|
UTSW |
2 |
89,001,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1565:Or4c120
|
UTSW |
2 |
89,000,971 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4204:Or4c120
|
UTSW |
2 |
89,001,124 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4580:Or4c120
|
UTSW |
2 |
89,001,544 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4669:Or4c120
|
UTSW |
2 |
89,001,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5137:Or4c120
|
UTSW |
2 |
89,000,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6391:Or4c120
|
UTSW |
2 |
89,000,942 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6396:Or4c120
|
UTSW |
2 |
89,001,034 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7103:Or4c120
|
UTSW |
2 |
89,000,827 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7187:Or4c120
|
UTSW |
2 |
89,001,714 (GRCm39) |
start gained |
probably benign |
|
|
R7394:Or4c120
|
UTSW |
2 |
89,000,705 (GRCm39) |
missense |
probably benign |
|
|
R7758:Or4c120
|
UTSW |
2 |
89,001,485 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8073:Or4c120
|
UTSW |
2 |
89,001,284 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9012:Or4c120
|
UTSW |
2 |
89,000,929 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9632:Or4c120
|
UTSW |
2 |
89,001,752 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTGACAGTACTATCACCTCCATCC -3'
(R):5'- CCTTCACCCCAATGTTTAAAATGTGGC -3'
Sequencing Primer
(F):5'- CTCCATCCCAGTGAAGAAGTG -3'
(R):5'- GGGCACATCAACTTGTTCATAG -3'
|
| Posted On |
2014-07-03 |
Incidental Mutation