Incidental Mutation 'R6619:Or6c38'
| ID |
524287 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or6c38
|
| Ensembl Gene |
ENSMUSG00000050198 |
| Gene Name |
olfactory receptor family 6 subfamily C member 38 |
| Synonyms |
MOR114-4, Olfr768, GA_x6K02T2PULF-10779441-10778503 |
| MMRRC Submission |
044742-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R6619 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
128928903-128929841 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 128929323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 173
(D173E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089619
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063031]
|
| AlphaFold |
Q8VGC4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063031
AA Change: D173E
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000089619
Gene: ENSMUSG00000050198
AA Change: D173E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
5.7e-50 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
5e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216212
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216681
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| 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 |
|---|
| Atp13a5 |
G |
A |
16: 29,167,833 (GRCm39) |
P109S |
probably benign |
Het |
| Baiap2l1 |
T |
C |
5: 144,222,916 (GRCm39) |
K106R |
probably benign |
Het |
| Coro6 |
A |
G |
11: 77,357,030 (GRCm39) |
I111V |
possibly damaging |
Het |
| Crocc2 |
A |
G |
1: 93,118,223 (GRCm39) |
E382G |
probably benign |
Het |
| Dhrs7l |
A |
T |
12: 72,668,724 (GRCm39) |
N44K |
possibly damaging |
Het |
| Dnah5 |
C |
A |
15: 28,409,266 (GRCm39) |
N3561K |
probably benign |
Het |
| Dsc2 |
T |
A |
18: 20,165,335 (GRCm39) |
E879D |
probably benign |
Het |
| Frk |
A |
G |
10: 34,481,835 (GRCm39) |
Y375C |
probably benign |
Het |
| Herc2 |
A |
T |
7: 55,717,840 (GRCm39) |
R61* |
probably null |
Het |
| Jarid2 |
A |
G |
13: 45,027,872 (GRCm39) |
D146G |
probably damaging |
Het |
| Lancl2 |
C |
A |
6: 57,699,566 (GRCm39) |
T127K |
probably damaging |
Het |
| Large1 |
G |
A |
8: 73,609,892 (GRCm39) |
Q359* |
probably null |
Het |
| Mast2 |
C |
A |
4: 116,173,694 (GRCm39) |
E521* |
probably null |
Het |
| Mrc1 |
T |
A |
2: 14,299,597 (GRCm39) |
|
probably null |
Het |
| Obi1 |
T |
C |
14: 104,759,993 (GRCm39) |
H19R |
possibly damaging |
Het |
| Or4z4 |
A |
G |
19: 12,076,727 (GRCm39) |
I92T |
probably damaging |
Het |
| Or5ak23 |
T |
C |
2: 85,244,425 (GRCm39) |
N266S |
probably benign |
Het |
| Or8k38 |
T |
C |
2: 86,488,406 (GRCm39) |
Y132C |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| P2ry14 |
T |
C |
3: 59,023,154 (GRCm39) |
Y102C |
probably damaging |
Het |
| Pcdhga6 |
T |
A |
18: 37,842,702 (GRCm39) |
D807E |
probably benign |
Het |
| Pcdhgb4 |
T |
A |
18: 37,854,737 (GRCm39) |
N377K |
probably damaging |
Het |
| Phf13 |
T |
A |
4: 152,076,114 (GRCm39) |
N263Y |
probably damaging |
Het |
| Rab19 |
T |
A |
6: 39,365,060 (GRCm39) |
S107T |
probably damaging |
Het |
| Rasgrf2 |
A |
T |
13: 92,165,027 (GRCm39) |
F380I |
probably damaging |
Het |
| Reep1 |
T |
C |
6: 71,784,826 (GRCm39) |
|
probably benign |
Het |
| Rpgrip1l |
C |
T |
8: 91,959,499 (GRCm39) |
E1134K |
possibly damaging |
Het |
| Serpina3m |
A |
T |
12: 104,357,766 (GRCm39) |
Y230F |
probably benign |
Het |
| Skint3 |
T |
C |
4: 112,111,061 (GRCm39) |
I62T |
probably damaging |
Het |
| Smg6 |
T |
C |
11: 74,823,279 (GRCm39) |
|
probably null |
Het |
| Sp4 |
G |
A |
12: 118,263,077 (GRCm39) |
T323I |
possibly damaging |
Het |
| Strc |
A |
G |
2: 121,198,913 (GRCm39) |
I1378T |
probably damaging |
Het |
| Tepsin |
C |
T |
11: 119,986,428 (GRCm39) |
G128D |
probably benign |
Het |
| Togaram2 |
A |
G |
17: 71,996,266 (GRCm39) |
N89D |
probably damaging |
Het |
| Trim36 |
T |
C |
18: 46,321,475 (GRCm39) |
T191A |
probably damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,077,980 (GRCm39) |
|
probably null |
Het |
| Zfp418 |
G |
A |
7: 7,184,895 (GRCm39) |
C286Y |
probably damaging |
Het |
|
| Other mutations in Or6c38 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00902:Or6c38
|
APN |
10 |
128,929,265 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01947:Or6c38
|
APN |
10 |
128,929,747 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03026:Or6c38
|
APN |
10 |
128,929,057 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1353:Or6c38
|
UTSW |
10 |
128,929,733 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1426:Or6c38
|
UTSW |
10 |
128,929,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1766:Or6c38
|
UTSW |
10 |
128,929,616 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2356:Or6c38
|
UTSW |
10 |
128,929,761 (GRCm39) |
missense |
probably benign |
0.40 |
|
R3522:Or6c38
|
UTSW |
10 |
128,929,711 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3751:Or6c38
|
UTSW |
10 |
128,929,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3779:Or6c38
|
UTSW |
10 |
128,929,165 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4582:Or6c38
|
UTSW |
10 |
128,929,027 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4772:Or6c38
|
UTSW |
10 |
128,929,537 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4792:Or6c38
|
UTSW |
10 |
128,929,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5749:Or6c38
|
UTSW |
10 |
128,928,966 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6571:Or6c38
|
UTSW |
10 |
128,928,990 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7052:Or6c38
|
UTSW |
10 |
128,929,744 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7096:Or6c38
|
UTSW |
10 |
128,929,715 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7409:Or6c38
|
UTSW |
10 |
128,929,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7852:Or6c38
|
UTSW |
10 |
128,929,385 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8332:Or6c38
|
UTSW |
10 |
128,929,174 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9183:Or6c38
|
UTSW |
10 |
128,929,201 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9245:Or6c38
|
UTSW |
10 |
128,929,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Or6c38
|
UTSW |
10 |
128,929,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Or6c38
|
UTSW |
10 |
128,928,984 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGCCGTAAGTGATAGAAACC -3'
(R):5'- TCCTATGACCGCTATGTGGC -3'
Sequencing Primer
(F):5'- AAAAAGCCTTTTTCCTTTGCTGGG -3'
(R):5'- TATGTGGCCATCTGCAAGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation