Incidental Mutation 'R1101:Or4k42'
| ID |
98066 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4k42
|
| Ensembl Gene |
ENSMUSG00000095809 |
| Gene Name |
olfactory receptor family 4 subfamily K member 42 |
| Synonyms |
Olfr1290, MOR248-9, GA_x6K02T2Q125-72541649-72540711 |
| MMRRC Submission |
039174-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R1101 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
111319563-111324160 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111319787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 239
(T239A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099616]
[ENSMUST00000120021]
[ENSMUST00000208695]
[ENSMUST00000208881]
[ENSMUST00000217611]
|
| AlphaFold |
Q7TQX8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099616
AA Change: T239A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097211
Gene: ENSMUSG00000095809
AA Change: T239A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
305 |
3.5e-52 |
PFAM |
|
Pfam:7tm_1
|
41 |
287 |
1e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120021
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207707
AA Change: T239A
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208695
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208881
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217611
AA Change: T239A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 91.2%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,853,909 (GRCm39) |
I249M |
possibly damaging |
Het |
| 2610021A01Rik |
C |
A |
7: 41,276,783 (GRCm39) |
H829N |
probably damaging |
Het |
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| Abi3bp |
G |
T |
16: 56,426,521 (GRCm39) |
R512L |
probably damaging |
Het |
| Acot2 |
T |
G |
12: 84,039,624 (GRCm39) |
S378A |
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,096,205 (GRCm39) |
I2360T |
probably benign |
Het |
| Bank1 |
T |
C |
3: 135,989,625 (GRCm39) |
D155G |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,993,610 (GRCm39) |
V714A |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 123,587,585 (GRCm39) |
V170I |
possibly damaging |
Het |
| Clcn2 |
G |
A |
16: 20,522,345 (GRCm39) |
T787I |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,864,599 (GRCm39) |
H131R |
probably damaging |
Het |
| Dct |
T |
G |
14: 118,274,034 (GRCm39) |
D291A |
probably damaging |
Het |
| Dhx37 |
A |
G |
5: 125,492,216 (GRCm39) |
Y1128H |
probably damaging |
Het |
| Dip2c |
A |
T |
13: 9,684,780 (GRCm39) |
I1174F |
probably damaging |
Het |
| Eif3l |
A |
G |
15: 78,959,467 (GRCm39) |
Y3C |
probably damaging |
Het |
| Enpp5 |
A |
G |
17: 44,392,258 (GRCm39) |
N229S |
possibly damaging |
Het |
| Fam83b |
A |
T |
9: 76,452,952 (GRCm39) |
H38Q |
possibly damaging |
Het |
| Fcamr |
T |
A |
1: 130,742,223 (GRCm39) |
|
probably null |
Het |
| Hdac2 |
G |
A |
10: 36,867,805 (GRCm39) |
V184I |
probably damaging |
Het |
| Igf2bp2 |
A |
T |
16: 21,981,700 (GRCm39) |
L5Q |
probably damaging |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Ireb2 |
T |
A |
9: 54,816,986 (GRCm39) |
H951Q |
probably benign |
Het |
| Lman1 |
T |
A |
18: 66,120,969 (GRCm39) |
M418L |
probably benign |
Het |
| Lrrfip2 |
C |
T |
9: 111,019,293 (GRCm39) |
R275W |
probably damaging |
Het |
| Mast3 |
T |
A |
8: 71,239,307 (GRCm39) |
I424F |
probably damaging |
Het |
| Mep1a |
T |
C |
17: 43,802,584 (GRCm39) |
D147G |
probably benign |
Het |
| Mtr |
C |
A |
13: 12,204,411 (GRCm39) |
E1128D |
possibly damaging |
Het |
| Ogfod1 |
C |
A |
8: 94,790,932 (GRCm39) |
S534R |
probably benign |
Het |
| Or4c107 |
A |
T |
2: 88,789,328 (GRCm39) |
I173F |
possibly damaging |
Het |
| Or5k1 |
A |
G |
16: 58,617,615 (GRCm39) |
V198A |
probably benign |
Het |
| Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
| Pcdh18 |
T |
A |
3: 49,707,828 (GRCm39) |
D882V |
probably damaging |
Het |
| Pik3cg |
C |
T |
12: 32,245,645 (GRCm39) |
G868S |
probably null |
Het |
| Plppr5 |
T |
G |
3: 117,456,172 (GRCm39) |
M231R |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,638,897 (GRCm39) |
T46A |
probably benign |
Het |
| Ppp4r3a |
C |
A |
12: 101,017,830 (GRCm39) |
R440L |
probably damaging |
Het |
| Serpinb9e |
A |
T |
13: 33,444,071 (GRCm39) |
T364S |
probably benign |
Het |
| Sirt3 |
A |
G |
7: 140,449,541 (GRCm39) |
V135A |
possibly damaging |
Het |
| Supt16 |
T |
C |
14: 52,408,896 (GRCm39) |
N826S |
probably null |
Het |
| Tbr1 |
T |
C |
2: 61,635,083 (GRCm39) |
I11T |
probably benign |
Het |
| Trim72 |
A |
G |
7: 127,609,419 (GRCm39) |
E407G |
possibly damaging |
Het |
| Vps72 |
C |
A |
3: 95,026,487 (GRCm39) |
T144K |
probably damaging |
Het |
|
| Other mutations in Or4k42 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00958:Or4k42
|
APN |
2 |
111,319,565 (GRCm39) |
makesense |
probably null |
|
|
IGL01418:Or4k42
|
APN |
2 |
111,319,984 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL02288:Or4k42
|
APN |
2 |
111,320,065 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02507:Or4k42
|
APN |
2 |
111,319,768 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02508:Or4k42
|
APN |
2 |
111,320,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02951:Or4k42
|
APN |
2 |
111,320,465 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03357:Or4k42
|
APN |
2 |
111,320,289 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2256:Or4k42
|
UTSW |
2 |
111,320,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2420:Or4k42
|
UTSW |
2 |
111,319,602 (GRCm39) |
splice site |
probably null |
|
|
R4672:Or4k42
|
UTSW |
2 |
111,319,902 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4715:Or4k42
|
UTSW |
2 |
111,320,089 (GRCm39) |
missense |
probably benign |
|
|
R4855:Or4k42
|
UTSW |
2 |
111,320,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6011:Or4k42
|
UTSW |
2 |
111,320,192 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6141:Or4k42
|
UTSW |
2 |
111,320,464 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6156:Or4k42
|
UTSW |
2 |
111,320,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6702:Or4k42
|
UTSW |
2 |
111,320,454 (GRCm39) |
splice site |
probably null |
|
|
R6703:Or4k42
|
UTSW |
2 |
111,320,454 (GRCm39) |
splice site |
probably null |
|
|
R7413:Or4k42
|
UTSW |
2 |
111,319,933 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7861:Or4k42
|
UTSW |
2 |
111,320,369 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8007:Or4k42
|
UTSW |
2 |
111,320,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8914:Or4k42
|
UTSW |
2 |
111,320,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8947:Or4k42
|
UTSW |
2 |
111,320,042 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9003:Or4k42
|
UTSW |
2 |
111,320,411 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9396:Or4k42
|
UTSW |
2 |
111,319,864 (GRCm39) |
missense |
probably benign |
0.22 |
|
Z1176:Or4k42
|
UTSW |
2 |
111,320,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTGTTCATGCAAAAGTGGAAACC -3'
(R):5'- AGCTTGCATAGATTCCCGTGACTTG -3'
Sequencing Primer
(F):5'- CTGTGTAGGAAAAGCATGTCTG -3'
(R):5'- CCCGTGACTTGGATGTTCTAATG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation