Mutagenetix > Incidental Mutation

Incidental Mutation 'R1583:Or4k5'

177279

Institutional Source

Beutler Lab

Gene Symbol

Or4k5

Ensembl Gene

ENSMUSG00000049011

Gene Name

olfactory receptor family 4 subfamily K member 5

Synonyms

MOR246-6, GA_x6K02T2PMLR-5839874-5838903, Olfr729

MMRRC Submission

039620-MU

Accession Numbers

Essential gene?

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

Stock #

R1583 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50385358-50386329 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 50386231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 33 (M33I)

Ref Sequence

ENSEMBL: ENSMUSP00000149189 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061020] [ENSMUST00000213163] [ENSMUST00000215327] [ENSMUST00000215451]

AlphaFold

Q8VET4

Predicted Effect

probably benign
Transcript: ENSMUST00000061020
AA Change: M33I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000051755
Gene: ENSMUSG00000049011
AA Change: M33I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	8.3e-46	PFAM
Pfam:7TM_GPCR_Srsx	35	286	1.4e-5	PFAM
Pfam:7tm_1	41	287	2.4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213163
AA Change: M33I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000215327
AA Change: M33I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000215451
AA Change: M33I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.8%

Validation Efficiency

99% (79/80)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,030,528 (GRCm39)	S691P	probably benign	Het
Adgrb3	T	C	1: 25,265,912 (GRCm39)		probably null	Het
Ankar	A	G	1: 72,718,714 (GRCm39)		probably benign	Het
Aplf	A	T	6: 87,623,015 (GRCm39)	Y355N	probably damaging	Het
Bms1	A	G	6: 118,366,350 (GRCm39)		probably benign	Het
Catsperb	T	C	12: 101,429,373 (GRCm39)	I182T	probably damaging	Het
Cd300ld2	T	C	11: 114,904,603 (GRCm39)	D88G	probably benign	Het
Cebpz	T	C	17: 79,242,181 (GRCm39)	N491S	probably damaging	Het
Crybg2	T	C	4: 133,808,770 (GRCm39)	S1415P	probably damaging	Het
Ddc	A	G	11: 11,779,131 (GRCm39)	V331A	probably benign	Het
Decr2	T	C	17: 26,301,998 (GRCm39)	E244G	probably damaging	Het
Dhrs11	A	G	11: 84,713,943 (GRCm39)	M136T	probably damaging	Het
Eapp	G	A	12: 54,732,733 (GRCm39)	Q126*	probably null	Het
Fam111a	T	A	19: 12,565,142 (GRCm39)	V297D	probably damaging	Het
Fbxo10	A	C	4: 45,062,118 (GRCm39)	L136R	probably damaging	Het
Fbxo30	T	A	10: 11,167,118 (GRCm39)	H613Q	possibly damaging	Het
Frk	A	T	10: 34,467,806 (GRCm39)		probably null	Het
Gm10392	T	A	11: 77,408,307 (GRCm39)	D104V	probably benign	Het
Gpn1	A	G	5: 31,654,682 (GRCm39)	E78G	possibly damaging	Het
Hhip	T	C	8: 80,716,905 (GRCm39)	Y506C	probably damaging	Het
Hid1	G	A	11: 115,247,576 (GRCm39)	S274L	possibly damaging	Het
Immp2l	G	T	12: 41,750,548 (GRCm39)		probably benign	Het
Klhl21	T	C	4: 152,094,081 (GRCm39)	F228L	possibly damaging	Het
Lamc1	T	A	1: 153,119,224 (GRCm39)		probably null	Het
Lars1	G	A	18: 42,343,115 (GRCm39)	R1101C	probably damaging	Het
Lratd1	G	A	12: 14,200,409 (GRCm39)	A106V	probably benign	Het
Magi2	T	C	5: 19,432,330 (GRCm39)	V15A	probably benign	Het
Map2k7	T	C	8: 4,293,621 (GRCm39)		probably null	Het
Mga	T	A	2: 119,794,441 (GRCm39)	H2590Q	possibly damaging	Het
Mlxip	T	C	5: 123,588,286 (GRCm39)	I238T	possibly damaging	Het
Mylk	T	A	16: 34,695,956 (GRCm39)	D230E	probably benign	Het
Nacad	T	A	11: 6,551,185 (GRCm39)	T669S	probably benign	Het
Nin	C	T	12: 70,078,512 (GRCm39)	M1691I	probably benign	Het
Nlrp4d	C	T	7: 10,116,164 (GRCm39)	A203T	probably damaging	Het
Or10aa1	T	C	1: 173,870,046 (GRCm39)	F177L	probably benign	Het
Or10q12	A	T	19: 13,745,874 (GRCm39)	H56L	probably benign	Het
Or4c106	T	G	2: 88,682,606 (GRCm39)	F104C	probably damaging	Het
Or4k51	A	T	2: 111,584,770 (GRCm39)	M59L	probably damaging	Het
Or5ac19	A	G	16: 59,089,394 (GRCm39)	V212A	probably benign	Het
Osbp	C	A	19: 11,955,193 (GRCm39)	Q282K	probably benign	Het
Osbpl2	A	G	2: 179,790,256 (GRCm39)	S177G	probably damaging	Het
Pax1	A	G	2: 147,208,175 (GRCm39)	H261R	possibly damaging	Het
Pcif1	A	T	2: 164,728,647 (GRCm39)	L274F	probably damaging	Het
Pkhd1	A	G	1: 20,188,049 (GRCm39)	S3420P	probably benign	Het
Prss3	A	C	6: 41,354,561 (GRCm39)		probably benign	Het
Ptk2b	T	C	14: 66,400,563 (GRCm39)	T751A	possibly damaging	Het
Pus10	T	C	11: 23,623,239 (GRCm39)	V126A	probably damaging	Het
Rai14	A	C	15: 10,588,002 (GRCm39)	D258E	probably damaging	Het
Rbp3	T	C	14: 33,676,481 (GRCm39)	V143A	possibly damaging	Het
Sarm1	G	A	11: 78,374,153 (GRCm39)	Q625*	probably null	Het
Scgb1b21	T	G	7: 33,227,092 (GRCm39)		noncoding transcript	Het
Scrn1	A	T	6: 54,497,754 (GRCm39)	V279E	probably damaging	Het
Sipa1l2	T	C	8: 126,148,634 (GRCm39)	T1670A	probably damaging	Het
Slc9a4	A	T	1: 40,640,122 (GRCm39)	I305F	probably benign	Het
Smarcc1	A	G	9: 110,042,685 (GRCm39)	T918A	probably damaging	Het
Tas2r109	A	T	6: 132,957,389 (GRCm39)	H180Q	probably benign	Het
Tas2r121	G	A	6: 132,677,193 (GRCm39)	R260*	probably null	Het
Tenm3	T	C	8: 48,732,109 (GRCm39)	D1249G	probably benign	Het
Tgtp1	C	G	11: 48,878,357 (GRCm39)	G116A	probably damaging	Het
Tial1	A	G	7: 128,045,634 (GRCm39)	Y317H	probably damaging	Het
Top6bl	T	A	19: 4,702,199 (GRCm39)	K282N	probably damaging	Het
Trim66	A	T	7: 109,054,287 (GRCm39)	W1308R	probably damaging	Het
Ulk2	T	G	11: 61,674,371 (GRCm39)	K878N	possibly damaging	Het
Zfp41	T	A	15: 75,490,140 (GRCm39)	S31T	possibly damaging	Het

Other mutations in Or4k5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01802:Or4k5	APN	14	50,386,173 (GRCm39)	missense	probably benign	0.38
IGL02736:Or4k5	APN	14	50,385,881 (GRCm39)	missense	probably benign	0.01
IGL02798:Or4k5	APN	14	50,385,835 (GRCm39)	missense	probably benign
IGL03267:Or4k5	APN	14	50,386,304 (GRCm39)	missense	probably damaging	1.00
R0082:Or4k5	UTSW	14	50,385,512 (GRCm39)	missense	probably damaging	0.97
R0225:Or4k5	UTSW	14	50,386,092 (GRCm39)	missense	probably damaging	1.00
R0503:Or4k5	UTSW	14	50,385,935 (GRCm39)	missense	probably damaging	1.00
R1022:Or4k5	UTSW	14	50,385,384 (GRCm39)	missense	probably benign
R1024:Or4k5	UTSW	14	50,385,384 (GRCm39)	missense	probably benign
R1424:Or4k5	UTSW	14	50,385,922 (GRCm39)	missense	possibly damaging	0.83
R1440:Or4k5	UTSW	14	50,385,815 (GRCm39)	missense	probably damaging	1.00
R1479:Or4k5	UTSW	14	50,386,245 (GRCm39)	missense	probably benign	0.00
R1817:Or4k5	UTSW	14	50,385,728 (GRCm39)	missense	probably benign	0.00
R2155:Or4k5	UTSW	14	50,386,154 (GRCm39)	missense	probably damaging	1.00
R2282:Or4k5	UTSW	14	50,385,776 (GRCm39)	missense	probably benign
R2926:Or4k5	UTSW	14	50,385,893 (GRCm39)	missense	probably benign	0.19
R3790:Or4k5	UTSW	14	50,386,026 (GRCm39)	missense	possibly damaging	0.51
R4073:Or4k5	UTSW	14	50,385,500 (GRCm39)	missense	possibly damaging	0.55
R5945:Or4k5	UTSW	14	50,386,220 (GRCm39)	missense	probably benign
R6714:Or4k5	UTSW	14	50,385,671 (GRCm39)	missense	possibly damaging	0.95
R7112:Or4k5	UTSW	14	50,385,392 (GRCm39)	missense	probably benign	0.00
R7157:Or4k5	UTSW	14	50,385,689 (GRCm39)	missense	probably damaging	1.00
R7511:Or4k5	UTSW	14	50,385,713 (GRCm39)	missense	probably damaging	1.00
R7815:Or4k5	UTSW	14	50,386,253 (GRCm39)	missense	probably benign	0.36
R8833:Or4k5	UTSW	14	50,385,823 (GRCm39)	nonsense	probably null
R9486:Or4k5	UTSW	14	50,385,672 (GRCm39)	missense	probably benign	0.21
R9608:Or4k5	UTSW	14	50,386,055 (GRCm39)	missense	probably benign	0.35
Z1177:Or4k5	UTSW	14	50,386,308 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCCCAAGAGATTACTACCAAGGCA -3'
(R):5'- AGGCACTCTCATTAGCTCCTTCTGT -3'

Sequencing Primer
(F):5'- AATTTGGGCTATGCAGCCAC -3'
(R):5'- GTTGGCATGGTTGTTCAAATG -3'

Posted On

2014-04-24