Incidental Mutation 'R8233:Or4c108'
| ID |
637208 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4c108
|
| Ensembl Gene |
ENSMUSG00000089751 |
| Gene Name |
olfactory receptor family 4 subfamily C member 108 |
| Synonyms |
GA_x6K02T2Q125-50452032-50451097, Olfr1213, MOR233-7, Gm13762 |
| MMRRC Submission |
067665-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R8233 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
88803298-88810611 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 88804082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 51
(R51H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126588
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099806]
[ENSMUST00000168169]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000097394
Gene: ENSMUSG00000101480
AA Change: R51H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
2.5e-47 |
PFAM |
|
Pfam:7tm_1
|
39 |
286 |
3.2e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168169
AA Change: R51H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126588
Gene: ENSMUSG00000075111
AA Change: R51H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
39 |
286 |
1.8e-26 |
PFAM |
|
Pfam:7tm_4
|
138 |
282 |
3.3e-36 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.8%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
A |
T |
18: 70,602,687 (GRCm39) |
V42E |
probably benign |
Het |
| Abca12 |
T |
C |
1: 71,390,916 (GRCm39) |
E153G |
probably benign |
Het |
| Adamts20 |
A |
C |
15: 94,189,533 (GRCm39) |
I1440S |
probably benign |
Het |
| Aspm |
T |
A |
1: 139,385,042 (GRCm39) |
S229T |
probably benign |
Het |
| Atp2b2 |
A |
T |
6: 113,742,680 (GRCm39) |
|
probably null |
Het |
| Cd101 |
G |
T |
3: 100,900,989 (GRCm39) |
H1032N |
unknown |
Het |
| Col6a2 |
A |
G |
10: 76,444,540 (GRCm39) |
|
probably null |
Het |
| Crot |
A |
T |
5: 9,026,027 (GRCm39) |
I320K |
possibly damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,772,588 (GRCm39) |
D602E |
probably damaging |
Het |
| Degs1 |
A |
G |
1: 182,107,160 (GRCm39) |
V69A |
probably benign |
Het |
| Dgkz |
A |
G |
2: 91,769,994 (GRCm39) |
S557P |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,405,055 (GRCm39) |
L602Q |
|
Het |
| Gli2 |
A |
T |
1: 118,772,167 (GRCm39) |
Y513N |
probably damaging |
Het |
| H2-Q10 |
A |
G |
17: 35,781,983 (GRCm39) |
T202A |
probably benign |
Het |
| Hnrnpa3 |
A |
G |
2: 75,492,860 (GRCm39) |
N195D |
probably benign |
Het |
| Ifna1 |
C |
T |
4: 88,768,628 (GRCm39) |
T102I |
possibly damaging |
Het |
| Igfbp3 |
T |
A |
11: 7,160,152 (GRCm39) |
H167L |
probably benign |
Het |
| Igfn1 |
T |
C |
1: 135,895,782 (GRCm39) |
T1595A |
probably benign |
Het |
| Krt14 |
A |
G |
11: 100,094,178 (GRCm39) |
V472A |
probably damaging |
Het |
| Lrrc74b |
T |
A |
16: 17,376,089 (GRCm39) |
H187L |
probably benign |
Het |
| Magoh |
T |
G |
4: 107,738,132 (GRCm39) |
V44G |
possibly damaging |
Het |
| Mbnl1 |
A |
T |
3: 60,532,551 (GRCm39) |
I274L |
probably benign |
Het |
| Or13a27 |
T |
G |
7: 139,925,411 (GRCm39) |
M164L |
probably benign |
Het |
| Pdcd1 |
A |
G |
1: 93,967,142 (GRCm39) |
V252A |
probably damaging |
Het |
| Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Plcxd3 |
A |
G |
15: 4,546,317 (GRCm39) |
D107G |
possibly damaging |
Het |
| Polr2m |
T |
A |
9: 71,390,866 (GRCm39) |
D112V |
probably benign |
Het |
| Ptprn |
A |
T |
1: 75,229,796 (GRCm39) |
M701K |
probably damaging |
Het |
| Rxrb |
A |
G |
17: 34,255,879 (GRCm39) |
D421G |
possibly damaging |
Het |
| Slfn4 |
A |
G |
11: 83,078,355 (GRCm39) |
E381G |
probably damaging |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Srgap1 |
A |
G |
10: 121,661,341 (GRCm39) |
I530T |
probably damaging |
Het |
| Stmn4 |
A |
G |
14: 66,595,341 (GRCm39) |
H122R |
probably damaging |
Het |
| Sycp2 |
T |
C |
2: 177,998,427 (GRCm39) |
E1031G |
probably damaging |
Het |
| Tle1 |
T |
C |
4: 72,043,181 (GRCm39) |
T553A |
probably benign |
Het |
| Tnik |
T |
A |
3: 28,609,086 (GRCm39) |
W217R |
unknown |
Het |
| Tyrp1 |
T |
C |
4: 80,769,190 (GRCm39) |
V161A |
unknown |
Het |
| Usp29 |
T |
A |
7: 6,965,406 (GRCm39) |
F416L |
probably benign |
Het |
| Usp45 |
T |
C |
4: 21,781,736 (GRCm39) |
V34A |
probably benign |
Het |
| Vmn1r119 |
A |
G |
7: 20,745,932 (GRCm39) |
V150A |
probably damaging |
Het |
|
| Other mutations in Or4c108 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01812:Or4c108
|
APN |
2 |
88,803,868 (GRCm39) |
nonsense |
probably null |
|
|
IGL02685:Or4c108
|
APN |
2 |
88,803,365 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0240:Or4c108
|
UTSW |
2 |
88,803,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Or4c108
|
UTSW |
2 |
88,803,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1446:Or4c108
|
UTSW |
2 |
88,804,109 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1845:Or4c108
|
UTSW |
2 |
88,803,482 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1868:Or4c108
|
UTSW |
2 |
88,804,128 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1953:Or4c108
|
UTSW |
2 |
88,804,224 (GRCm39) |
nonsense |
probably null |
|
|
R4205:Or4c108
|
UTSW |
2 |
88,803,482 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4751:Or4c108
|
UTSW |
2 |
88,803,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4895:Or4c108
|
UTSW |
2 |
88,804,055 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4937:Or4c108
|
UTSW |
2 |
88,803,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5621:Or4c108
|
UTSW |
2 |
88,803,810 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5678:Or4c108
|
UTSW |
2 |
88,803,317 (GRCm39) |
nonsense |
probably null |
|
|
R5938:Or4c108
|
UTSW |
2 |
88,803,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6021:Or4c108
|
UTSW |
2 |
88,803,376 (GRCm39) |
nonsense |
probably null |
|
|
R6180:Or4c108
|
UTSW |
2 |
88,804,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6724:Or4c108
|
UTSW |
2 |
88,803,612 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6873:Or4c108
|
UTSW |
2 |
88,803,768 (GRCm39) |
missense |
probably benign |
|
|
R6893:Or4c108
|
UTSW |
2 |
88,804,143 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7221:Or4c108
|
UTSW |
2 |
88,803,497 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7634:Or4c108
|
UTSW |
2 |
88,804,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8262:Or4c108
|
UTSW |
2 |
88,803,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8979:Or4c108
|
UTSW |
2 |
88,804,173 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9136:Or4c108
|
UTSW |
2 |
88,804,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9696:Or4c108
|
UTSW |
2 |
88,803,615 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9726:Or4c108
|
UTSW |
2 |
88,804,221 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATAGCGGTCATAGGCCATGG -3'
(R):5'- TAAGGATGTACTAGCAAGGTTAGTG -3'
Sequencing Primer
(F):5'- CGGTCATAGGCCATGGATATC -3'
(R):5'- TGTACTAGCAAGGTTAGTGGTAATAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation