Mutagenetix > Incidental Mutation

Incidental Mutation 'R4166:Or14c40'

320580

Institutional Source

Beutler Lab

Gene Symbol

Or14c40

Ensembl Gene

ENSMUSG00000063394

Gene Name

olfactory receptor family 14 subfamily C member 40

Synonyms

Olfr293, MOR221-3, GA_x6K02T2NHDJ-9457744-9456734

MMRRC Submission

041639-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R4166 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86312872-86313882 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 86313602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 244 (T244N)

Ref Sequence

ENSEMBL: ENSMUSP00000149959 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081474] [ENSMUST00000214401] [ENSMUST00000215280]

AlphaFold

Q7TS10

Predicted Effect

probably damaging
Transcript: ENSMUST00000081474
AA Change: T244N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080193
Gene: ENSMUSG00000063394
AA Change: T244N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	313	2.1e-45	PFAM
Pfam:7tm_1	45	295	1.6e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214401
AA Change: T244N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215280
AA Change: T244N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.7509

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,382,912 (GRCm39)	T1018A	possibly damaging	Het
Aak1	T	A	6: 86,827,044 (GRCm39)	F4I	probably damaging	Het
Adamts8	G	T	9: 30,862,684 (GRCm39)	E296D	probably benign	Het
Ankrd35	T	A	3: 96,586,471 (GRCm39)		probably null	Het
Arhgap20	G	A	9: 51,738,135 (GRCm39)		probably null	Het
Bhmt	T	A	13: 93,762,007 (GRCm39)		probably benign	Het
Cacna1b	C	A	2: 24,567,923 (GRCm39)	R1055L	probably benign	Het
Cdk5r1	A	G	11: 80,369,035 (GRCm39)	Y234C	probably damaging	Het
Cdx2	G	T	5: 147,243,539 (GRCm39)	A85D	possibly damaging	Het
Cenpe	G	A	3: 134,949,479 (GRCm39)	G88D	probably damaging	Het
Cfap300	A	T	9: 8,026,071 (GRCm39)	L167Q	probably damaging	Het
Dennd5a	A	C	7: 109,526,032 (GRCm39)		probably null	Het
Erich6	G	A	3: 58,526,229 (GRCm39)	A591V	probably damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fbln5	A	G	12: 101,723,618 (GRCm39)	V374A	probably damaging	Het
Fmn1	G	A	2: 113,467,080 (GRCm39)	S1327N	probably benign	Het
Fnip2	A	T	3: 79,369,442 (GRCm39)	V1081E	probably damaging	Het
Gm5174	A	G	10: 86,492,797 (GRCm39)		noncoding transcript	Het
Gpaa1	A	C	15: 76,216,667 (GRCm39)		probably benign	Het
Grina	T	A	15: 76,133,529 (GRCm39)	L334Q	probably damaging	Het
Gulp1	T	A	1: 44,747,829 (GRCm39)	Y27*	probably null	Het
Kdm3b	A	T	18: 34,928,797 (GRCm39)	I183F	probably benign	Het
Loxhd1	A	T	18: 77,460,025 (GRCm39)	I758F	probably damaging	Het
Msi2	T	C	11: 88,237,914 (GRCm39)	H346R	probably benign	Het
Naip6	T	A	13: 100,452,657 (GRCm39)	I135F	probably benign	Het
Npr3	T	G	15: 11,848,599 (GRCm39)	E202A	probably benign	Het
Nsun4	A	T	4: 115,891,248 (GRCm39)	L377Q	probably damaging	Het
Oog2	A	C	4: 143,921,411 (GRCm39)	H107P	probably damaging	Het
Otof	A	G	5: 30,539,762 (GRCm39)	L1032P	probably damaging	Het
Pcdh9	T	A	14: 94,124,956 (GRCm39)	R405*	probably null	Het
Pcdhb19	T	A	18: 37,632,243 (GRCm39)	N679K	probably benign	Het
Pigr	G	A	1: 130,769,554 (GRCm39)	D122N	probably benign	Het
Prol1	A	T	5: 88,476,530 (GRCm39)	I307F	unknown	Het
Pycr1	T	C	11: 120,532,949 (GRCm39)	I104V	probably benign	Het
Ralgapa1	C	T	12: 55,687,429 (GRCm39)	R2019Q	probably damaging	Het
Rb1cc1	T	C	1: 6,335,887 (GRCm39)		probably benign	Het
Skint11	C	A	4: 114,101,856 (GRCm39)	Q99K	probably benign	Het
Skint3	A	G	4: 112,112,832 (GRCm39)	I147M	possibly damaging	Het
Slc22a14	T	G	9: 119,007,498 (GRCm39)	M304L	probably benign	Het
Slc22a14	T	C	9: 119,008,934 (GRCm39)	N178S	possibly damaging	Het
Slc2a1	T	G	4: 118,990,313 (GRCm39)	I179S	probably damaging	Het
Slco2b1	G	T	7: 99,309,333 (GRCm39)	T666N	probably benign	Het
Smap1	T	C	1: 23,887,506 (GRCm39)	M258V	probably benign	Het
Smr3a	A	T	5: 88,156,013 (GRCm39)		probably benign	Het
Stt3b	T	A	9: 115,083,969 (GRCm39)	E402D	probably damaging	Het
Sync	T	C	4: 129,200,535 (GRCm39)		probably benign	Het
Tbx20	T	A	9: 24,681,040 (GRCm39)	I151F	probably damaging	Het
Tomm22	C	A	15: 79,555,206 (GRCm39)		probably benign	Het
Trank1	C	A	9: 111,202,592 (GRCm39)	Y1652*	probably null	Het
Trim34a	T	A	7: 103,910,223 (GRCm39)	C342S	probably benign	Het
Txnl4a	T	A	18: 80,265,471 (GRCm39)	M112K	probably benign	Het
Zfp146	A	G	7: 29,861,865 (GRCm39)	V59A	possibly damaging	Het

Other mutations in Or14c40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02478:Or14c40	APN	7	86,313,344 (GRCm39)	missense	probably damaging	0.97
IGL02659:Or14c40	APN	7	86,313,289 (GRCm39)	missense	probably benign	0.06
IGL02730:Or14c40	APN	7	86,313,275 (GRCm39)	missense	probably damaging	0.98
IGL02959:Or14c40	APN	7	86,313,737 (GRCm39)	missense	probably damaging	0.98
R0045:Or14c40	UTSW	7	86,313,548 (GRCm39)	missense	possibly damaging	0.90
R0094:Or14c40	UTSW	7	86,313,502 (GRCm39)	missense	probably benign
R0094:Or14c40	UTSW	7	86,313,502 (GRCm39)	missense	probably benign
R0152:Or14c40	UTSW	7	86,313,719 (GRCm39)	missense	probably damaging	1.00
R0669:Or14c40	UTSW	7	86,313,544 (GRCm39)	missense	possibly damaging	0.79
R0942:Or14c40	UTSW	7	86,313,314 (GRCm39)	missense	probably damaging	0.98
R1467:Or14c40	UTSW	7	86,313,185 (GRCm39)	missense	possibly damaging	0.90
R1467:Or14c40	UTSW	7	86,313,185 (GRCm39)	missense	possibly damaging	0.90
R1656:Or14c40	UTSW	7	86,313,331 (GRCm39)	missense	probably benign	0.04
R2010:Or14c40	UTSW	7	86,313,811 (GRCm39)	missense	probably benign
R2056:Or14c40	UTSW	7	86,313,591 (GRCm39)	missense	probably damaging	1.00
R2059:Or14c40	UTSW	7	86,313,591 (GRCm39)	missense	probably damaging	1.00
R2105:Or14c40	UTSW	7	86,313,591 (GRCm39)	missense	probably damaging	1.00
R4303:Or14c40	UTSW	7	86,313,163 (GRCm39)	missense	probably benign	0.16
R4531:Or14c40	UTSW	7	86,313,479 (GRCm39)	missense	probably benign	0.02
R4808:Or14c40	UTSW	7	86,313,146 (GRCm39)	missense	probably benign	0.00
R5748:Or14c40	UTSW	7	86,313,293 (GRCm39)	missense	possibly damaging	0.61
R5937:Or14c40	UTSW	7	86,313,684 (GRCm39)	missense	probably benign	0.00
R6178:Or14c40	UTSW	7	86,313,819 (GRCm39)	missense	probably benign	0.45
R6766:Or14c40	UTSW	7	86,313,293 (GRCm39)	missense	probably damaging	0.98
R7315:Or14c40	UTSW	7	86,313,445 (GRCm39)	missense	probably damaging	0.99
R7585:Or14c40	UTSW	7	86,313,880 (GRCm39)	makesense	probably null
R9201:Or14c40	UTSW	7	86,313,749 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GACATCCCCTCTTTGCTGAG -3'
(R):5'- CCTCTTGAAAACTCTGACAAGTACTC -3'

Sequencing Primer
(F):5'- GAGGCTTTCTTGCTCTGACAC -3'
(R):5'- AATACTACTTTCTTCACAGCCTCC -3'

Posted On

2015-06-12