Mutagenetix > Incidental Mutation

Incidental Mutation 'R6213:Or14c41'

503559

Institutional Source

Beutler Lab

Gene Symbol

Or14c41

Ensembl Gene

ENSMUSG00000059319

Gene Name

olfactory receptor family 14 subfamily C member 41

Synonyms

Olfr295, GA_x6K02T2NHDJ-9539243-9538314, MOR220-1

MMRRC Submission

044346-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R6213 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86234485-86235414 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 86234485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000150377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078447] [ENSMUST00000215365]

AlphaFold

Q7TS08

Predicted Effect

probably null
Transcript: ENSMUST00000078447
AA Change: M1V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077542
Gene: ENSMUSG00000059319
AA Change: M1V

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	288	6.1e-26	PFAM
Pfam:7tm_4	137	281	2.2e-40	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000215365
AA Change: M1V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,218,762 (GRCm39)	Y207H	probably damaging	Het
Adcy7	G	A	8: 89,040,765 (GRCm39)	V335M	probably damaging	Het
Apol11b	A	C	15: 77,522,200 (GRCm39)	D32E	possibly damaging	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Cdkn1b	T	A	6: 134,898,206 (GRCm39)	D108E	probably benign	Het
Cep290	A	G	10: 100,359,222 (GRCm39)	D984G	probably benign	Het
Csde1	T	C	3: 102,947,830 (GRCm39)	V128A	probably damaging	Het
Csmd3	A	G	15: 47,492,656 (GRCm39)	S3162P	probably damaging	Het
D5Ertd579e	G	A	5: 36,759,978 (GRCm39)	T1394I	probably damaging	Het
Ddx6	T	A	9: 44,539,990 (GRCm39)	L306Q	probably damaging	Het
Dmxl1	T	A	18: 49,996,082 (GRCm39)	S403T	possibly damaging	Het
F11	G	T	8: 45,694,537 (GRCm39)	T608K	probably damaging	Het
Flrt3	C	T	2: 140,503,085 (GRCm39)	R181H	probably damaging	Het
Hs3st1	A	T	5: 39,771,864 (GRCm39)	C260S	probably damaging	Het
Ighv7-1	A	T	12: 113,860,141 (GRCm39)	S84T	probably damaging	Het
Inpp4b	A	G	8: 82,724,019 (GRCm39)	D332G	probably damaging	Het
Irf2bpl	T	C	12: 86,930,367 (GRCm39)	Q102R	probably benign	Het
Itpr3	T	A	17: 27,330,174 (GRCm39)	D1597E	probably benign	Het
Kcnd1	G	C	X: 7,690,148 (GRCm39)	A23P	probably damaging	Homo
Lypd8	A	G	11: 58,281,160 (GRCm39)	T241A	probably benign	Het
Map1lc3a	T	C	2: 155,118,935 (GRCm39)		probably null	Het
Mast1	G	A	8: 85,642,198 (GRCm39)	T1052I	probably damaging	Het
Muc2	T	C	7: 141,305,151 (GRCm39)	C152R	probably damaging	Het
Muc5b	A	T	7: 141,415,903 (GRCm39)	M2950L	probably benign	Het
Muc5b	A	G	7: 141,421,356 (GRCm39)	D4282G	possibly damaging	Het
Myo16	G	T	8: 10,420,963 (GRCm39)		probably null	Het
Myo9a	T	A	9: 59,734,541 (GRCm39)	F708I	probably damaging	Het
Nadsyn1	A	T	7: 143,353,549 (GRCm39)	F558Y	probably benign	Het
Nat9	A	T	11: 115,075,932 (GRCm39)	W30R	probably damaging	Het
Nipbl	A	G	15: 8,364,390 (GRCm39)	L1338S	probably damaging	Het
Nipsnap3b	A	G	4: 53,017,066 (GRCm39)	T97A	probably benign	Het
Npepps	A	T	11: 97,132,823 (GRCm39)	Y301*	probably null	Het
Nrcam	C	T	12: 44,609,215 (GRCm39)	P447S	possibly damaging	Het
Or1o4	T	C	17: 37,591,264 (GRCm39)	S16G	probably benign	Het
Or2a14	A	G	6: 43,130,821 (GRCm39)	N194S	possibly damaging	Het
Or52b4	T	C	7: 102,184,139 (GRCm39)	Y62H	probably damaging	Het
Pacsin3	G	T	2: 91,090,779 (GRCm39)	V29F	probably damaging	Het
Pdzrn3	A	C	6: 101,354,805 (GRCm39)	D15E	probably damaging	Het
Phf20l1	T	C	15: 66,504,752 (GRCm39)		probably null	Het
Pign	A	C	1: 105,516,991 (GRCm39)	V545G	possibly damaging	Het
Pkhd1	T	C	1: 20,593,994 (GRCm39)	N1373S	possibly damaging	Het
Ptchd4	T	A	17: 42,688,251 (GRCm39)	H264Q	probably benign	Het
Ptpn3	G	T	4: 57,265,012 (GRCm39)	Q73K	probably damaging	Het
Ptrh1	G	A	2: 32,666,757 (GRCm39)	V109I	probably benign	Het
Reg1	A	T	6: 78,404,386 (GRCm39)	I87F	possibly damaging	Het
Rrp12	C	A	19: 41,857,217 (GRCm39)	V1186L	probably benign	Het
Sall1	AGTGGTGGTGGTGGTGGTGGTGG	AGTGGTGGTGGTGGTGGTGG	8: 89,759,686 (GRCm39)		probably benign	Het
Slc23a3	A	C	1: 75,108,392 (GRCm39)	F279V	probably benign	Het
Smtnl2	G	A	11: 72,292,225 (GRCm39)	A274V	probably damaging	Het
Suds3	A	G	5: 117,244,727 (GRCm39)	L115P	probably damaging	Het
Tekt2	G	A	4: 126,216,989 (GRCm39)	A260V	probably damaging	Het
Tgfb3	T	A	12: 86,104,621 (GRCm39)	Y391F	probably damaging	Het
Topbp1	T	C	9: 103,209,950 (GRCm39)	S866P	probably benign	Het
Tspan14	A	G	14: 40,635,372 (GRCm39)	Y175H	probably benign	Het
Vars2	T	C	17: 35,971,332 (GRCm39)	T568A	probably benign	Het
Vmn1r216	T	G	13: 23,283,339 (GRCm39)	D7E	probably benign	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Zfp281	T	C	1: 136,553,250 (GRCm39)	V76A	probably benign	Het
Zfp36l2	T	C	17: 84,493,980 (GRCm39)	N219S	probably damaging	Het
Zfp626	T	C	7: 27,507,717 (GRCm39)	M42T	probably benign	Het
Zscan21	C	T	5: 138,123,359 (GRCm39)	P13S	probably benign	Het

Other mutations in Or14c41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01362:Or14c41	APN	7	86,234,647 (GRCm39)	missense	possibly damaging	0.91
IGL02248:Or14c41	APN	7	86,235,312 (GRCm39)	nonsense	probably null
IGL02309:Or14c41	APN	7	86,234,705 (GRCm39)	missense	possibly damaging	0.84
IGL02866:Or14c41	APN	7	86,234,901 (GRCm39)	nonsense	probably null
IGL03059:Or14c41	APN	7	86,234,779 (GRCm39)	missense	probably benign	0.00
IGL03134:Or14c41	UTSW	7	86,235,220 (GRCm39)	missense	probably damaging	0.99
R1311:Or14c41	UTSW	7	86,235,161 (GRCm39)	missense	probably damaging	0.96
R1777:Or14c41	UTSW	7	86,235,272 (GRCm39)	missense	probably benign
R2259:Or14c41	UTSW	7	86,235,092 (GRCm39)	missense	possibly damaging	0.80
R2379:Or14c41	UTSW	7	86,235,400 (GRCm39)	missense	probably benign
R5944:Or14c41	UTSW	7	86,234,486 (GRCm39)	start codon destroyed	probably null	1.00
R6241:Or14c41	UTSW	7	86,235,245 (GRCm39)	missense	probably benign	0.35
R8730:Or14c41	UTSW	7	86,235,259 (GRCm39)	missense	probably benign	0.20
R9316:Or14c41	UTSW	7	86,235,134 (GRCm39)	missense	probably benign	0.00
R9461:Or14c41	UTSW	7	86,235,247 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- GGGGATGAATCATGAAAACTTTCC -3'
(R):5'- AAGTACATGGGTGTATTCAGGGTC -3'

Sequencing Primer
(F):5'- TTCCATCTCAAATATACAAGACGTTC -3'
(R):5'- CTGGTCAACTGTAGTAGCAATGATG -3'

Posted On

2018-02-27