Mutagenetix > Incidental Mutation

Incidental Mutation 'R9235:Or14a257'

700428

Institutional Source

Beutler Lab

Gene Symbol

Or14a257

Ensembl Gene

ENSMUSG00000062878

Gene Name

olfactory receptor family 14 subfamily A member 257

Synonyms

GA_x6K02T2NHDJ-9619796-9620794, Olfr298, MOR219-4

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R9235 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86137759-86138757 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86138306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 151 (V151E)

Ref Sequence

ENSEMBL: ENSMUSP00000150228 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077800] [ENSMUST00000213223] [ENSMUST00000216968] [ENSMUST00000217110]

AlphaFold

Q7TS06

Predicted Effect

probably benign
Transcript: ENSMUST00000077800
AA Change: V151E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000076973
Gene: ENSMUSG00000062878
AA Change: V151E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	4.2e-37	PFAM
Pfam:7tm_1	39	288	8.4e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213223
AA Change: V151E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000216968
AA Change: V151E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000217110
AA Change: V151E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (59/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,623,518 (GRCm39)	I76N	possibly damaging	Het
4930558K02Rik	T	C	1: 161,780,172 (GRCm39)	H114R	possibly damaging	Het
C2	T	C	17: 35,083,845 (GRCm39)	D414G	probably damaging	Het
Catsper4	C	T	4: 133,954,606 (GRCm39)	D15N	probably benign	Het
Ccnb2	A	G	9: 70,318,163 (GRCm39)	V203A	probably damaging	Het
Cd2	A	G	3: 101,195,159 (GRCm39)	F13L	probably benign	Het
Cwf19l1	G	A	19: 44,113,275 (GRCm39)	A227V	probably damaging	Het
Dis3l2	G	A	1: 86,749,061 (GRCm39)	D176N	possibly damaging	Het
Dmpk	T	G	7: 18,822,141 (GRCm39)	N366K	probably damaging	Het
Dnajb12	C	T	10: 59,728,799 (GRCm39)	T229I	probably benign	Het
Efcab3	A	G	11: 104,907,987 (GRCm39)	D4479G	probably benign	Het
Fat3	T	A	9: 15,833,674 (GRCm39)	E126V	probably null	Het
Fbxo27	T	A	7: 28,397,756 (GRCm39)	Y264*	probably null	Het
Fign	A	G	2: 63,810,907 (GRCm39)	M121T	probably damaging	Het
Flt3	T	C	5: 147,320,202 (GRCm39)	Y54C	possibly damaging	Het
Frmd4a	G	A	2: 4,599,366 (GRCm39)	R460H	probably damaging	Het
Igkv4-53	A	T	6: 69,626,301 (GRCm39)	I13N	possibly damaging	Het
Islr	T	A	9: 58,064,944 (GRCm39)	I188F	possibly damaging	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Klra3	A	T	6: 130,311,218 (GRCm39)	C54*	probably null	Het
Klrb1b	A	G	6: 128,795,547 (GRCm39)	F140S	probably damaging	Het
Kmt2c	T	C	5: 25,504,997 (GRCm39)	E3437G	probably damaging	Het
Mdn1	C	A	4: 32,739,122 (GRCm39)	L3648I	probably benign	Het
Mlxipl	C	A	5: 135,157,541 (GRCm39)	T359K	possibly damaging	Het
Morc3	T	C	16: 93,659,321 (GRCm39)	W410R	probably damaging	Het
Mrpl49	G	A	19: 6,105,147 (GRCm39)	R105*	probably null	Het
Myom3	T	A	4: 135,541,653 (GRCm39)	Y1415N	probably damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Nrap	A	T	19: 56,330,760 (GRCm39)	Y1100*	probably null	Het
Or5d43	A	T	2: 88,104,724 (GRCm39)	I223N	probably damaging	Het
Or5t5	T	C	2: 86,616,548 (GRCm39)	I158T	probably benign	Het
Or6c8b	G	T	10: 128,882,051 (GRCm39)	Q294K	probably benign	Het
Pank1	C	A	19: 34,856,197 (GRCm39)	A94S	probably benign	Het
Pikfyve	C	A	1: 65,299,188 (GRCm39)	T1613K	probably benign	Het
Plbd2	T	A	5: 120,626,554 (GRCm39)	I352L	probably benign	Het
Plec	T	C	15: 76,059,701 (GRCm39)	D3412G	probably damaging	Het
Plekhd1	T	A	12: 80,768,791 (GRCm39)	Y425N	possibly damaging	Het
Plscr5	A	G	9: 92,086,417 (GRCm39)	N129S	possibly damaging	Het
Prkdc	T	A	16: 15,651,751 (GRCm39)	M3796K	probably damaging	Het
Psme3	A	T	11: 101,211,594 (GRCm39)	E213D	possibly damaging	Het
Ptprn2	G	A	12: 117,233,271 (GRCm39)		probably null	Het
Sema5a	A	G	15: 32,619,034 (GRCm39)	S521G	probably benign	Het
Slc34a2	A	T	5: 53,226,667 (GRCm39)	M597L	probably benign	Het
Slc6a13	A	G	6: 121,301,984 (GRCm39)	R189G	probably damaging	Het
Smyd4	G	A	11: 75,295,689 (GRCm39)	E782K	probably benign	Het
Sspo	T	A	6: 48,466,718 (GRCm39)	C4078S	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Trim28	G	A	7: 12,763,490 (GRCm39)	A544T	probably benign	Het
Ttc21a	G	T	9: 119,774,559 (GRCm39)	R271L	probably benign	Het
Ubr5	A	G	15: 38,045,982 (GRCm39)	L114P		Het
Ugt1a2	A	G	1: 88,128,488 (GRCm39)	R44G	possibly damaging	Het
Ulk4	G	A	9: 120,981,217 (GRCm39)	T907I	probably benign	Het
Unc13a	G	T	8: 72,115,912 (GRCm39)	L97I	probably benign	Het
Uqcc6	A	T	10: 82,458,586 (GRCm39)	C22S	possibly damaging	Het
Vmn1r25	A	G	6: 57,955,488 (GRCm39)	L267P	probably damaging	Het
Vmn2r101	T	A	17: 19,810,238 (GRCm39)	N341K	probably damaging	Het
Wdr3	T	A	3: 100,054,023 (GRCm39)	Q534L	probably benign	Het
Zfp28	A	T	7: 6,397,605 (GRCm39)	H680L	probably damaging	Het
Zfp986	T	A	4: 145,625,759 (GRCm39)	F140I	probably benign	Het

Other mutations in Or14a257

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01517:Or14a257	APN	7	86,138,765 (GRCm39)	utr 5 prime	probably benign
IGL01603:Or14a257	APN	7	86,138,139 (GRCm39)	missense	possibly damaging	0.92
IGL02389:Or14a257	APN	7	86,138,336 (GRCm39)	missense	probably damaging	0.98
IGL03146:Or14a257	APN	7	86,138,402 (GRCm39)	missense	probably damaging	1.00
R0680:Or14a257	UTSW	7	86,138,545 (GRCm39)	missense	probably benign
R0834:Or14a257	UTSW	7	86,138,698 (GRCm39)	missense	probably benign	0.11
R1132:Or14a257	UTSW	7	86,138,425 (GRCm39)	missense	probably benign	0.03
R1519:Or14a257	UTSW	7	86,138,333 (GRCm39)	missense	probably damaging	0.99
R1881:Or14a257	UTSW	7	86,138,646 (GRCm39)	missense	probably benign	0.01
R2170:Or14a257	UTSW	7	86,137,778 (GRCm39)	missense	probably benign	0.03
R4500:Or14a257	UTSW	7	86,138,127 (GRCm39)	missense	probably benign	0.00
R4524:Or14a257	UTSW	7	86,138,034 (GRCm39)	missense	probably damaging	1.00
R5184:Or14a257	UTSW	7	86,138,499 (GRCm39)	frame shift	probably null
R5521:Or14a257	UTSW	7	86,137,839 (GRCm39)	missense	probably benign	0.08
R7448:Or14a257	UTSW	7	86,138,417 (GRCm39)	missense	probably damaging	1.00
R7643:Or14a257	UTSW	7	86,138,776 (GRCm39)	critical splice acceptor site	probably null
R7688:Or14a257	UTSW	7	86,138,183 (GRCm39)	missense	probably benign	0.01
R8104:Or14a257	UTSW	7	86,138,231 (GRCm39)	missense	probably damaging	1.00
R8732:Or14a257	UTSW	7	86,138,061 (GRCm39)	missense	probably damaging	0.96
R8973:Or14a257	UTSW	7	86,138,487 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGGAATCTTCAGCACAGTGGAG -3'
(R):5'- ACTCAATTTCTATTCTGGGTTGTGC -3'

Sequencing Primer
(F):5'- TCTTCAGCACAGTGGAGAAAATG -3'
(R):5'- GTGCCCTCCAAGTGTTTTTAATGAC -3'

Posted On

2022-02-07