Mutagenetix > Incidental Mutation

Incidental Mutation 'R8031:Or5k14'

617981

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

067469-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R8031 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58689766-58693511 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58693054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 153 (N153S)

Ref Sequence

ENSEMBL: ENSMUSP00000150269 (fasta)

Gene Model

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

AlphaFold

E9Q7W1

Predicted Effect

probably benign
Transcript: ENSMUST00000072853
AA Change: N153S

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000072631
Gene: ENSMUSG00000063137
AA Change: N153S

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

probably benign
Transcript: ENSMUST00000217377
AA Change: N153S

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (60/60)

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
Ace3	T	C	11: 105,888,924 (GRCm39)		probably null	Het
Arhgdib	A	G	6: 136,901,274 (GRCm39)	Y152H	probably benign	Het
Atxn10	T	G	15: 85,277,594 (GRCm39)	S354A	probably benign	Het
Cacng6	T	C	7: 3,473,401 (GRCm39)	V75A	possibly damaging	Het
Cdc23	A	G	18: 34,784,741 (GRCm39)	V7A	unknown	Het
Cdc40	T	A	10: 40,728,512 (GRCm39)	E157D	probably benign	Het
Defa25	T	A	8: 21,575,253 (GRCm39)	N77K	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Efcab3	T	C	11: 104,772,295 (GRCm39)	V2659A	possibly damaging	Het
Efcab6	T	C	15: 83,867,699 (GRCm39)	K260E	possibly damaging	Het
Eif4a3	T	C	11: 119,179,731 (GRCm39)	Y352C	probably damaging	Het
Erc2	A	T	14: 27,733,649 (GRCm39)	K566N	probably damaging	Het
Fam3b	A	C	16: 97,283,052 (GRCm39)	Y74*	probably null	Het
Flg2	T	A	3: 93,127,521 (GRCm39)	S2144R	unknown	Het
Fmo4	G	T	1: 162,626,421 (GRCm39)	S375*	probably null	Het
Fsip2	A	G	2: 82,817,235 (GRCm39)	T4323A	probably benign	Het
Gm16503	A	T	4: 147,625,767 (GRCm39)	H87L	unknown	Het
Hes7	C	T	11: 69,013,591 (GRCm39)	A150V	probably damaging	Het
Hk1	T	A	10: 62,132,478 (GRCm39)	N190I	probably benign	Het
Il17rc	A	G	6: 113,459,782 (GRCm39)	D576G	probably damaging	Het
Inhba	T	A	13: 16,200,860 (GRCm39)	S141T	possibly damaging	Het
Itga8	G	T	2: 12,160,297 (GRCm39)	D840E	probably benign	Het
Kazn	T	C	4: 141,881,862 (GRCm39)	E126G		Het
Kcnk13	A	G	12: 99,932,438 (GRCm39)	Y78C	probably damaging	Het
Kcnt1	C	A	2: 25,798,054 (GRCm39)		probably benign	Het
Krt42	G	C	11: 100,155,865 (GRCm39)	R294G	possibly damaging	Het
Myo9a	A	G	9: 59,687,374 (GRCm39)	K160E	probably benign	Het
Nlrp1b	T	C	11: 71,107,747 (GRCm39)	R585G	probably benign	Het
Ntrk2	T	C	13: 59,022,193 (GRCm39)	I416T	probably benign	Het
Or4c112	A	T	2: 88,853,972 (GRCm39)	I125N	probably damaging	Het
Or52h7	T	A	7: 104,214,316 (GRCm39)	I296N	probably damaging	Het
Or8k33	G	A	2: 86,384,447 (GRCm39)	T7I	probably damaging	Het
P4ha3	A	G	7: 99,941,905 (GRCm39)	E106G	probably damaging	Het
Pcif1	A	G	2: 164,728,442 (GRCm39)	N233S	probably damaging	Het
Pgm2l1	C	A	7: 99,921,625 (GRCm39)	R619S	probably damaging	Het
Pkhd1l1	A	G	15: 44,376,230 (GRCm39)	Q964R	probably damaging	Het
Pla2g4a	T	A	1: 149,776,964 (GRCm39)	I89F	possibly damaging	Het
Ppp1cc	G	A	5: 122,312,151 (GRCm39)	A306T	probably benign	Het
Psmd4	T	C	3: 94,943,203 (GRCm39)	D67G	probably damaging	Het
Ptprt	G	A	2: 161,977,377 (GRCm39)	T307I	probably damaging	Het
Rnf213	C	A	11: 119,321,107 (GRCm39)	C1188*	probably null	Het
Ror2	C	T	13: 53,267,193 (GRCm39)	C426Y	probably damaging	Het
Sacs	C	T	14: 61,441,640 (GRCm39)	H1229Y	probably damaging	Het
Slc25a25	A	T	2: 32,311,517 (GRCm39)	L118Q	probably damaging	Het
Slc38a6	G	A	12: 73,397,377 (GRCm39)	A340T	probably benign	Het
Smarca5	A	T	8: 81,431,311 (GRCm39)	Y969N	probably damaging	Het
Sorbs1	C	A	19: 40,314,933 (GRCm39)	M626I	probably benign	Het
Spink5	T	A	18: 44,143,303 (GRCm39)	D753E	probably benign	Het
Taf1d	T	G	9: 15,221,695 (GRCm39)	I226S	probably damaging	Het
Tmem225	A	G	9: 40,060,689 (GRCm39)	I83V	possibly damaging	Het
Top2b	A	G	14: 16,412,986 (GRCm38)	D965G	probably damaging	Het
Traf3ip1	A	G	1: 91,429,141 (GRCm39)	K303E	probably damaging	Het
Ube2n	C	T	10: 95,377,244 (GRCm39)	R70C	probably benign	Het
Ubl7	C	T	9: 57,830,489 (GRCm39)	P312S	probably damaging	Het
Vmn1r34	A	T	6: 66,614,165 (GRCm39)	M191K	probably damaging	Het
Vmn2r103	C	T	17: 20,013,759 (GRCm39)	H184Y	probably benign	Het
Vmn2r104	T	C	17: 20,263,048 (GRCm39)	I138V	probably benign	Het
Vmn2r49	T	C	7: 9,720,408 (GRCm39)	E361G	possibly damaging	Het
Vmn2r78	T	C	7: 86,604,075 (GRCm39)	L751P	probably damaging	Het
Zc3h13	T	A	14: 75,568,070 (GRCm39)	I1121N	not run	Het
Zfp235	T	A	7: 23,841,114 (GRCm39)	V511E	probably benign	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
R1037:Or5k14	UTSW	16	58,693,333 (GRCm39)	missense	probably damaging	1.00
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
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'- TGCACAAGTAGATAAGGCTTTGC -3'
(R):5'- TTCTCTCTATGAGTGCATGGC -3'

Sequencing Primer
(F):5'- CAAGTAGATAAGGCTTTGCTTCTTCC -3'
(R):5'- GGCACAGTTCTATTTTCTCTGTCTTG -3'

Posted On

2020-01-23