Incidental Mutation 'R4375:Or8c20'
| ID |
325074 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8c20
|
| Ensembl Gene |
ENSMUSG00000094588 |
| Gene Name |
olfactory receptor family 8 subfamily C member 20 |
| Synonyms |
GA_x6K02T2PVTD-32037624-32038565, MOR170-3, Olfr898 |
| MMRRC Submission |
041119-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.234)
|
| Stock # |
R4375 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
38260381-38261331 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38260465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 23
(F23L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076504]
[ENSMUST00000216304]
[ENSMUST00000217063]
|
| AlphaFold |
L7N1Z5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076504
AA Change: F29L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000075824
Gene: ENSMUSG00000094588
AA Change: F29L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
37 |
313 |
2.2e-47 |
PFAM |
|
Pfam:7tm_1
|
47 |
313 |
1.7e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216304
AA Change: F23L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217063
AA Change: F23L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (37/37) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adhfe1 |
A |
T |
1: 9,631,853 (GRCm39) |
|
probably benign |
Het |
| Cd209c |
T |
C |
8: 4,004,635 (GRCm39) |
|
noncoding transcript |
Het |
| Cntnap1 |
A |
G |
11: 101,073,079 (GRCm39) |
D561G |
probably damaging |
Het |
| Csf1 |
T |
A |
3: 107,664,055 (GRCm39) |
T38S |
probably damaging |
Het |
| Cyp4b1 |
T |
C |
4: 115,493,510 (GRCm39) |
T191A |
probably benign |
Het |
| Dapk1 |
A |
T |
13: 60,909,403 (GRCm39) |
M1339L |
probably benign |
Het |
| Dpm3 |
T |
C |
3: 89,174,215 (GRCm39) |
Y59H |
probably damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,258,405 (GRCm39) |
Y585C |
probably damaging |
Het |
| Ercc1 |
G |
A |
7: 19,081,057 (GRCm39) |
|
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,699,685 (GRCm39) |
D577G |
probably benign |
Het |
| Gon4l |
C |
A |
3: 88,814,694 (GRCm39) |
P1888T |
probably benign |
Het |
| Hsf2bp |
C |
T |
17: 32,206,322 (GRCm39) |
D270N |
probably null |
Het |
| Lactbl1 |
T |
C |
4: 136,364,902 (GRCm39) |
V418A |
possibly damaging |
Het |
| Lifr |
A |
T |
15: 7,196,379 (GRCm39) |
M188L |
probably benign |
Het |
| Ltbp1 |
G |
T |
17: 75,619,992 (GRCm39) |
G760V |
probably damaging |
Het |
| Marchf11 |
A |
G |
15: 26,309,532 (GRCm39) |
E62G |
probably damaging |
Het |
| Nlrp12 |
A |
G |
7: 3,289,576 (GRCm39) |
L312P |
possibly damaging |
Het |
| Or1l4 |
T |
A |
2: 37,091,574 (GRCm39) |
M107K |
probably benign |
Het |
| Or52ae7 |
T |
C |
7: 103,119,278 (GRCm39) |
S11P |
probably damaging |
Het |
| Pcdh17 |
T |
C |
14: 84,685,711 (GRCm39) |
V726A |
possibly damaging |
Het |
| Pdia4 |
G |
A |
6: 47,775,326 (GRCm39) |
R495W |
probably damaging |
Het |
| Phf20l1 |
T |
C |
15: 66,487,071 (GRCm39) |
S369P |
probably benign |
Het |
| Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
| Prcc |
A |
G |
3: 87,774,714 (GRCm39) |
Y363H |
probably damaging |
Het |
| Proser3 |
A |
G |
7: 30,240,096 (GRCm39) |
V336A |
possibly damaging |
Het |
| Rbbp8 |
C |
T |
18: 11,858,467 (GRCm39) |
T646M |
probably benign |
Het |
| Rgs1 |
T |
C |
1: 144,123,644 (GRCm39) |
T94A |
probably benign |
Het |
| Rpl11 |
G |
A |
4: 135,778,454 (GRCm39) |
|
probably benign |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Snx9 |
G |
A |
17: 5,958,901 (GRCm39) |
W292* |
probably null |
Het |
| St14 |
T |
C |
9: 31,001,754 (GRCm39) |
I784V |
probably benign |
Het |
| Steep1 |
C |
A |
X: 36,087,812 (GRCm39) |
C206F |
probably benign |
Het |
| Strc |
A |
G |
2: 121,211,304 (GRCm39) |
S14P |
unknown |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Ubap1 |
G |
A |
4: 41,371,850 (GRCm39) |
|
probably null |
Het |
| Zfr |
T |
C |
15: 12,118,426 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or8c20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01394:Or8c20
|
APN |
9 |
38,261,101 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02477:Or8c20
|
APN |
9 |
38,260,421 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02858:Or8c20
|
APN |
9 |
38,260,469 (GRCm39) |
missense |
probably benign |
0.04 |
|
PIT4362001:Or8c20
|
UTSW |
9 |
38,260,494 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0060:Or8c20
|
UTSW |
9 |
38,260,808 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0518:Or8c20
|
UTSW |
9 |
38,260,499 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0521:Or8c20
|
UTSW |
9 |
38,260,499 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0622:Or8c20
|
UTSW |
9 |
38,260,667 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0898:Or8c20
|
UTSW |
9 |
38,260,738 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1562:Or8c20
|
UTSW |
9 |
38,260,658 (GRCm39) |
nonsense |
probably null |
|
|
R3903:Or8c20
|
UTSW |
9 |
38,260,954 (GRCm39) |
nonsense |
probably null |
|
|
R4459:Or8c20
|
UTSW |
9 |
38,261,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4762:Or8c20
|
UTSW |
9 |
38,260,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4943:Or8c20
|
UTSW |
9 |
38,260,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5033:Or8c20
|
UTSW |
9 |
38,260,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5442:Or8c20
|
UTSW |
9 |
38,261,158 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5863:Or8c20
|
UTSW |
9 |
38,261,083 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5988:Or8c20
|
UTSW |
9 |
38,261,045 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7077:Or8c20
|
UTSW |
9 |
38,261,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7509:Or8c20
|
UTSW |
9 |
38,260,868 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7709:Or8c20
|
UTSW |
9 |
38,260,573 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9305:Or8c20
|
UTSW |
9 |
38,260,381 (GRCm39) |
start codon destroyed |
probably benign |
0.33 |
|
| Predicted Primers |
|
| Posted On |
2015-07-06 |
Incidental Mutation