Mutagenetix > Incidental Mutation

Incidental Mutation 'R2010:Or14c40'

219479

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

040019-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R2010 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86312872-86313882 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86313811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 314 (T314A)

Ref Sequence

ENSEMBL: ENSMUSP00000149959 (fasta)

Gene Model

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

AlphaFold

Q7TS10

Predicted Effect

probably benign
Transcript: ENSMUST00000081474
AA Change: T314A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000080193
Gene: ENSMUSG00000063394
AA Change: T314A

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 benign
Transcript: ENSMUST00000214401
AA Change: T314A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000215280
AA Change: T314A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.6%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	G	A	3: 36,535,955 (GRCm39)	G74S	unknown	Het
Aimp1	A	T	3: 132,373,253 (GRCm39)	L229Q	probably benign	Het
Arhgef6	T	C	X: 56,344,865 (GRCm39)	T52A	possibly damaging	Het
Aste1	C	A	9: 105,280,701 (GRCm39)	H25Q	probably damaging	Het
Atp13a1	G	A	8: 70,244,010 (GRCm39)	G36R	possibly damaging	Het
Bahcc1	T	C	11: 120,163,604 (GRCm39)	V634A	probably damaging	Het
Bltp1	T	G	3: 36,982,700 (GRCm39)	N788K	probably benign	Het
C1s1	A	T	6: 124,514,353 (GRCm39)	Y168N	probably damaging	Het
Camsap2	T	C	1: 136,202,606 (GRCm39)	S612G	probably damaging	Het
Cdh23	C	A	10: 60,150,006 (GRCm39)	R2611L	probably damaging	Het
Cfap20dc	A	T	14: 8,511,021 (GRCm38)	F464L	probably damaging	Het
Cilp2	A	G	8: 70,334,344 (GRCm39)	Y885H	probably damaging	Het
Dhrs3	C	T	4: 144,653,758 (GRCm39)	T227I	possibly damaging	Het
Dnah2	A	T	11: 69,349,184 (GRCm39)		probably null	Het
Dnah3	T	G	7: 119,694,400 (GRCm39)	M1L	probably benign	Het
Ehbp1l1	A	G	19: 5,769,311 (GRCm39)	I664T	probably benign	Het
Eif4e	C	T	3: 138,261,219 (GRCm39)	T171I	probably benign	Het
Elfn1	C	T	5: 139,959,071 (GRCm39)	R692W	probably damaging	Het
Eps8l3	T	A	3: 107,786,688 (GRCm39)	M1K	probably null	Het
Evi5	C	A	5: 107,961,411 (GRCm39)		probably null	Het
Fancd2	A	T	6: 113,570,252 (GRCm39)	D1401V	probably damaging	Het
Fat2	G	A	11: 55,144,653 (GRCm39)	R4074C	probably damaging	Het
Fkbp4	A	T	6: 128,412,765 (GRCm39)	V55E	probably benign	Het
Fnip1	A	G	11: 54,373,329 (GRCm39)	D180G	probably damaging	Het
Galc	A	G	12: 98,220,489 (GRCm39)	F126S	possibly damaging	Het
Gdf7	C	T	12: 8,351,729 (GRCm39)	V69M	unknown	Het
Glis2	A	G	16: 4,426,575 (GRCm39)	E22G	probably damaging	Het
H2bc3	G	A	13: 23,931,111 (GRCm39)	V112M	possibly damaging	Het
Hps4	T	A	5: 112,517,342 (GRCm39)	V243E	probably damaging	Het
Ighe	T	A	12: 113,235,108 (GRCm39)	I351F	unknown	Het
Irak4	A	T	15: 94,449,687 (GRCm39)	R55S	probably damaging	Het
Itpr2	G	A	6: 146,129,022 (GRCm39)		probably null	Het
Katnip	A	G	7: 125,472,128 (GRCm39)	I1544M	possibly damaging	Het
Kirrel3	T	C	9: 34,850,494 (GRCm39)	Y41H	probably damaging	Het
Krr1	A	G	10: 111,811,474 (GRCm39)	E56G	possibly damaging	Het
Lgi1	G	A	19: 38,289,683 (GRCm39)	V250I	probably damaging	Het
Lipf	A	G	19: 33,950,946 (GRCm39)	N306D	probably benign	Het
Lman2l	C	T	1: 36,484,262 (GRCm39)	W18*	probably null	Het
Lztfl1	T	A	9: 123,531,251 (GRCm39)	N239I	possibly damaging	Het
Mief1	T	C	15: 80,132,126 (GRCm39)	S66P	possibly damaging	Het
Mmp8	C	A	9: 7,567,535 (GRCm39)	S465*	probably null	Het
Muc2	A	T	7: 141,287,444 (GRCm39)	T208S	probably damaging	Het
Myh8	A	T	11: 67,187,990 (GRCm39)	K921*	probably null	Het
Myh9	T	C	15: 77,656,147 (GRCm39)	E1121G	probably benign	Het
Nbn	T	C	4: 15,969,393 (GRCm39)	S213P	probably damaging	Het
Nol10	A	G	12: 17,466,102 (GRCm39)	E499G	probably benign	Het
Nxn	T	C	11: 76,289,627 (GRCm39)	E87G	probably damaging	Het
Or51f2	T	A	7: 102,526,892 (GRCm39)	C188*	probably null	Het
Or8g23	T	C	9: 38,971,395 (GRCm39)	H189R	probably benign	Het
Pds5b	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	5: 150,698,819 (GRCm39)		probably benign	Het
Pigk	A	G	3: 152,472,151 (GRCm39)	I354M	probably damaging	Het
Pigl	T	A	11: 62,349,508 (GRCm39)	C75S	probably damaging	Het
Pm20d1	T	A	1: 131,739,852 (GRCm39)	I400N	probably benign	Het
Prkg2	T	A	5: 99,172,664 (GRCm39)	H17L	probably benign	Het
Psmd1	T	A	1: 86,003,719 (GRCm39)	L168Q	probably damaging	Het
Rab3gap2	A	T	1: 185,010,478 (GRCm39)	H1136L	possibly damaging	Het
Rb1	T	C	14: 73,532,433 (GRCm39)	T134A	probably benign	Het
Rims1	T	C	1: 22,367,220 (GRCm39)	E1024G	probably damaging	Het
Rrp12	A	G	19: 41,861,376 (GRCm39)	V977A	probably benign	Het
Rusc2	C	T	4: 43,415,212 (GRCm39)	P173S	probably benign	Het
Selenov	A	T	7: 27,987,447 (GRCm39)	D310E	probably damaging	Het
Serpina3f	T	A	12: 104,183,582 (GRCm39)	L148Q	probably damaging	Het
Slc10a1	C	T	12: 81,007,221 (GRCm39)	V187I	probably benign	Het
Spsb2	A	G	6: 124,787,339 (GRCm39)	K258E	probably damaging	Het
Tas2r105	A	C	6: 131,664,365 (GRCm39)	V21G	probably benign	Het
Tmem229b-ps	T	A	10: 53,351,295 (GRCm39)		noncoding transcript	Het
Tnrc6a	C	G	7: 122,770,269 (GRCm39)	H686Q	probably benign	Het
Trpc2	T	A	7: 101,743,780 (GRCm39)	F715L	probably benign	Het
Ube2t	T	A	1: 134,897,036 (GRCm39)	I56N	probably benign	Het
Ubr4	T	C	4: 139,207,963 (GRCm39)	Y4915H	possibly damaging	Het
Usp32	T	A	11: 84,930,830 (GRCm39)	E533D	probably damaging	Het
Vipr2	T	G	12: 116,086,430 (GRCm39)		probably null	Het
Vmn1r15	A	G	6: 57,235,269 (GRCm39)	T46A	probably benign	Het
Vmn1r203	T	G	13: 22,708,617 (GRCm39)	S133A	possibly damaging	Het
Vmn1r215	T	G	13: 23,260,378 (GRCm39)	N139K	probably damaging	Het
Vmn1r232	C	T	17: 21,133,601 (GRCm39)	R333H	probably benign	Het
Wdr20rt	C	A	12: 65,273,988 (GRCm39)	H311N	possibly damaging	Het
Zranb1	T	C	7: 132,568,425 (GRCm39)		probably null	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
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
R4166:Or14c40	UTSW	7	86,313,602 (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'- AAAAGCCTTTTCCACTTGTGTCC -3'
(R):5'- GCTTTCATTTTAGTGATTTGATGAGC -3'

Sequencing Primer
(F):5'- TGTGTTTCTTAGTTCTGCTGCC -3'
(R):5'- ATGAGCTTCAGTGTTTGAGCAAG -3'

Posted On

2014-08-25