Mutagenetix > Incidental Mutation

Incidental Mutation 'R1037:Or5k14'

93899

Institutional Source

Beutler Lab

Gene Symbol

Or5k14

Ensembl Gene

ENSMUSG00000063137

Gene Name

olfactory receptor family 5 subfamily K member 14

Synonyms

Olfr176, GA_x54KRFPKG5P-55091371-55090442, MOR184-8, GA_x54KRFPKG5P-55043245-55042289, Olfr177, MOR184-7

MMRRC Submission

039136-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R1037 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58689766-58693511 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58693333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 60 (Y60C)

Ref Sequence

ENSEMBL: ENSMUSP00000150269 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072853] [ENSMUST00000217377]

AlphaFold

E9Q7W1

Predicted Effect

probably damaging
Transcript: ENSMUST00000072853
AA Change: Y60C

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

SMART Domains

Protein: ENSMUSP00000072631
Gene: ENSMUSG00000063137
AA Change: Y60C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.7e-53	PFAM
Pfam:7TM_GPCR_Srsx	35	254	8.3e-6	PFAM
Pfam:7tm_1	41	290	1.2e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205920
AA Change: Y60C

Predicted Effect

probably damaging
Transcript: ENSMUST00000217377
AA Change: Y60C

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

Meta Mutation Damage Score

0.2810

Coding Region Coverage

1x: 99.4%
3x: 98.1%
10x: 94.3%
20x: 85.9%

Validation Efficiency

100% (58/58)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 106,436,144 (GRCm39)	S139G	probably benign	Het
Abca2	T	A	2: 25,328,240 (GRCm39)		probably benign	Het
Abcb1b	A	T	5: 8,875,657 (GRCm39)	N610I	probably benign	Het
Ahnak	T	C	19: 8,984,982 (GRCm39)	F2089L	probably benign	Het
Cacnb1	T	C	11: 97,895,843 (GRCm39)		probably benign	Het
Cep57	T	C	9: 13,730,275 (GRCm39)	I61V	possibly damaging	Het
Ckap5	T	C	2: 91,380,974 (GRCm39)	I110T	probably benign	Het
Clasp2	T	C	9: 113,725,702 (GRCm39)		probably benign	Het
Col11a1	A	C	3: 113,987,801 (GRCm39)	E265A	probably damaging	Het
Cst13	A	G	2: 148,672,251 (GRCm39)		probably benign	Het
Cyp24a1	G	A	2: 170,333,537 (GRCm39)	T272M	probably damaging	Het
Cyp4a14	A	C	4: 115,347,193 (GRCm39)	L415R	probably damaging	Het
Dbnl	T	C	11: 5,746,807 (GRCm39)	F179S	probably damaging	Het
Eepd1	T	C	9: 25,498,079 (GRCm39)	L388P	possibly damaging	Het
Exosc8	G	T	3: 54,640,159 (GRCm39)	A55E	probably damaging	Het
Fam72a	G	A	1: 131,461,557 (GRCm39)	V81I	probably damaging	Het
Fasn	C	T	11: 120,700,277 (GRCm39)	M2182I	probably benign	Het
Fras1	C	T	5: 96,862,322 (GRCm39)	P2234S	probably damaging	Het
Grn	C	A	11: 102,323,896 (GRCm39)	D33E	possibly damaging	Het
Gsap	A	G	5: 21,456,163 (GRCm39)		probably benign	Het
H2bc15	T	A	13: 21,938,417 (GRCm39)	V42E	probably damaging	Het
Hook3	T	C	8: 26,562,378 (GRCm39)	Q229R	possibly damaging	Het
Itgb6	T	C	2: 60,480,412 (GRCm39)	E308G	probably damaging	Het
Kmo	C	T	1: 175,479,184 (GRCm39)	P240L	possibly damaging	Het
Lrrc4c	A	G	2: 97,460,330 (GRCm39)	M319V	probably benign	Het
Mia3	T	C	1: 183,138,698 (GRCm39)	I672M	probably benign	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Mlc1	A	G	15: 88,849,664 (GRCm39)	L223P	probably damaging	Het
Mmp21	T	C	7: 133,276,182 (GRCm39)	K554E	probably benign	Het
Nup160	C	T	2: 90,524,246 (GRCm39)	T383I	probably damaging	Het
Opcml	T	A	9: 28,814,595 (GRCm39)	D290E	probably damaging	Het
Or10a3b	T	A	7: 108,445,191 (GRCm39)	T9S	probably benign	Het
Or4a27	T	A	2: 88,559,376 (GRCm39)	D189V	probably damaging	Het
Or5ac19	C	T	16: 59,089,307 (GRCm39)	C241Y	probably damaging	Het
Or5d38	A	G	2: 87,954,573 (GRCm39)	I252T	probably damaging	Het
Palm3	C	A	8: 84,755,901 (GRCm39)	T471K	probably benign	Het
Prl2c5	T	A	13: 13,360,492 (GRCm39)	L50*	probably null	Het
Pzp	T	C	6: 128,496,389 (GRCm39)	N281S	probably benign	Het
Qser1	T	C	2: 104,590,900 (GRCm39)	Y1722C	probably damaging	Het
Ryr3	A	G	2: 112,699,453 (GRCm39)	V879A	probably benign	Het
Sbno1	A	G	5: 124,531,975 (GRCm39)	S736P	possibly damaging	Het
Septin5	G	A	16: 18,441,844 (GRCm39)		probably benign	Het
Slc17a6	A	G	7: 51,298,996 (GRCm39)		probably benign	Het
Spag17	A	T	3: 100,010,433 (GRCm39)	T1976S	probably benign	Het
Swt1	A	T	1: 151,246,320 (GRCm39)		probably benign	Het
Tenm4	T	C	7: 96,446,688 (GRCm39)	W853R	probably damaging	Het
Thbs1	A	T	2: 117,953,532 (GRCm39)	Q983L	probably damaging	Het
Tmem191	A	G	16: 17,094,347 (GRCm39)		probably benign	Het
Tmprss11g	A	T	5: 86,638,606 (GRCm39)	V294D	probably damaging	Het
Tor1aip2	A	G	1: 155,941,082 (GRCm39)	S463G	probably benign	Het
Trim36	A	G	18: 46,329,385 (GRCm39)		probably benign	Het
Ttc1	A	G	11: 43,621,326 (GRCm39)	V285A	possibly damaging	Het
Uckl1	C	T	2: 181,214,278 (GRCm39)	R303H	possibly damaging	Het
Vwa8	C	A	14: 79,324,094 (GRCm39)	C1132*	probably null	Het

Other mutations in Or5k14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02084:Or5k14	APN	16	58,693,399 (GRCm39)	missense	probably damaging	1.00
IGL02223:Or5k14	APN	16	58,693,057 (GRCm39)	missense	probably damaging	1.00
R0131:Or5k14	UTSW	16	58,693,269 (GRCm39)	missense	probably benign	0.01
R0131:Or5k14	UTSW	16	58,693,269 (GRCm39)	missense	probably benign	0.01
R0132:Or5k14	UTSW	16	58,693,269 (GRCm39)	missense	probably benign	0.01
R0245:Or5k14	UTSW	16	58,693,229 (GRCm39)	missense	probably benign	0.01
R0717:Or5k14	UTSW	16	58,693,133 (GRCm39)	missense	probably damaging	1.00
R0975:Or5k14	UTSW	16	58,693,513 (GRCm39)	splice site	probably null
R1256:Or5k14	UTSW	16	58,693,206 (GRCm39)	nonsense	probably null
R1278:Or5k14	UTSW	16	58,693,340 (GRCm39)	missense	probably damaging	1.00
R1538:Or5k14	UTSW	16	58,693,261 (GRCm39)	missense	probably damaging	1.00
R1992:Or5k14	UTSW	16	58,692,874 (GRCm39)	missense	probably benign	0.43
R2173:Or5k14	UTSW	16	58,692,982 (GRCm39)	missense	probably damaging	0.99
R2392:Or5k14	UTSW	16	58,692,797 (GRCm39)	missense	probably damaging	1.00
R5651:Or5k14	UTSW	16	58,692,847 (GRCm39)	missense	probably damaging	0.99
R5652:Or5k14	UTSW	16	58,692,847 (GRCm39)	missense	probably damaging	0.99
R5653:Or5k14	UTSW	16	58,692,847 (GRCm39)	missense	probably damaging	0.99
R8031:Or5k14	UTSW	16	58,693,054 (GRCm39)	missense	probably benign	0.03
R8108:Or5k14	UTSW	16	58,692,599 (GRCm39)	missense	probably benign
R8531:Or5k14	UTSW	16	58,693,016 (GRCm39)	missense	probably damaging	1.00
R8833:Or5k14	UTSW	16	58,692,959 (GRCm39)	missense	probably damaging	0.99
R9150:Or5k14	UTSW	16	58,693,005 (GRCm39)	nonsense	probably null
R9318:Or5k14	UTSW	16	58,692,748 (GRCm39)	missense	probably damaging	1.00
R9389:Or5k14	UTSW	16	58,692,976 (GRCm39)	missense	probably damaging	1.00
V8831:Or5k14	UTSW	16	58,693,438 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- GAGGGTTGCATATAGCCACATAGCG -3'
(R):5'- CCCTTGTCAACAGAGGAGCTGAAG -3'

Sequencing Primer
(F):5'- TATAGCCACATAGCGGTCATAG -3'
(R):5'- CTGAAGATGACTGAGGACAACTACTC -3'

Posted On

2014-01-05