Mutagenetix > Incidental Mutation

Incidental Mutation 'R8004:Or5k3'

616540

Institutional Source

Beutler Lab

Gene Symbol

Or5k3

Ensembl Gene

ENSMUSG00000062608

Gene Name

olfactory receptor family 5 subfamily K member 3

Synonyms

MOR184-5, GA_x54KRFPKG5P-55369823-55370749, Olfr195

MMRRC Submission

046044-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R8004 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58969215-58970141 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58969351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 46 (V46E)

Ref Sequence

ENSEMBL: ENSMUSP00000150249 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075381] [ENSMUST00000216957]

AlphaFold

Q8VGQ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000075381
AA Change: V46E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000073737
Gene: ENSMUSG00000062608
AA Change: V46E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	4.1e-53	PFAM
Pfam:7TM_GPCR_Srsx	35	161	2.7e-8	PFAM
Pfam:7tm_1	41	307	9.4e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216957
AA Change: V46E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

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
A830018L16Rik	T	A	1: 12,021,286 (GRCm39)		probably benign	Het
Abcb11	T	A	2: 69,087,554 (GRCm39)	K1070N	possibly damaging	Het
Ankrd24	T	A	10: 81,474,191 (GRCm39)	N179K	unknown	Het
Atp6v0a4	A	T	6: 38,027,484 (GRCm39)	F775L	possibly damaging	Het
Bbs2	A	G	8: 94,809,118 (GRCm39)	V269A	possibly damaging	Het
Bpifc	T	G	10: 85,815,148 (GRCm39)	S273R	probably benign	Het
Cdan1	C	T	2: 120,561,924 (GRCm39)	R20Q	unknown	Het
Cfap251	T	C	5: 123,392,513 (GRCm39)	W216R	unknown	Het
Chrm2	T	A	6: 36,500,221 (GRCm39)	I26N	probably damaging	Het
Cngb3	A	G	4: 19,505,273 (GRCm39)	K669E	possibly damaging	Het
Cnot1	T	C	8: 96,479,380 (GRCm39)	I876V	probably benign	Het
Col12a1	T	A	9: 79,591,683 (GRCm39)	T926S	probably damaging	Het
Cyp2b23	G	T	7: 26,378,891 (GRCm39)	T191K	probably benign	Het
Dipk1a	T	C	5: 108,057,532 (GRCm39)	D342G	probably damaging	Het
Dpp4	A	G	2: 62,189,172 (GRCm39)	V453A	probably benign	Het
Eif2ak4	T	C	2: 118,247,775 (GRCm39)	S271P	possibly damaging	Het
Fbxw20	G	T	9: 109,050,449 (GRCm39)	P392H	probably damaging	Het
Fcho2	T	A	13: 98,926,013 (GRCm39)	E118V	possibly damaging	Het
Gm2042	C	G	12: 87,926,921 (GRCm39)	Q413E	possibly damaging	Het
Gm904	G	A	13: 50,799,343 (GRCm39)		probably null	Het
H2-D1	A	G	17: 35,485,672 (GRCm39)	S352G	probably benign	Het
Igf2bp3	C	A	6: 49,067,954 (GRCm39)	V451L	probably benign	Het
Igkv1-99	T	C	6: 68,519,112 (GRCm39)	V23A		Het
Igsf10	A	G	3: 59,237,130 (GRCm39)	I1017T	probably benign	Het
Il18r1	G	A	1: 40,513,917 (GRCm39)	C41Y	probably damaging	Het
Itgb4	A	G	11: 115,873,531 (GRCm39)	D249G	probably benign	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lrrn2	T	A	1: 132,865,489 (GRCm39)	F185I	probably damaging	Het
Mllt6	G	T	11: 97,566,966 (GRCm39)	E635D	possibly damaging	Het
Msh6	A	G	17: 88,294,215 (GRCm39)	E990G	probably damaging	Het
Myo1h	A	T	5: 114,458,769 (GRCm39)	D184V		Het
Nfatc2ip	A	G	7: 125,989,577 (GRCm39)	V269A	possibly damaging	Het
Nfkb1	C	A	3: 135,297,312 (GRCm39)		probably benign	Het
Nol12	A	T	15: 78,824,717 (GRCm39)	K181N	probably damaging	Het
Npl	T	A	1: 153,379,286 (GRCm39)	T266S	probably benign	Het
Oog2	A	T	4: 143,920,821 (GRCm39)	I85L	probably benign	Het
Or7e171-ps1	A	T	9: 19,853,408 (GRCm39)	D109E	possibly damaging	Het
Parm1	A	C	5: 91,742,132 (GRCm39)	S167R	probably benign	Het
Pcsk4	T	C	10: 80,158,674 (GRCm39)	D526G	probably damaging	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Psmd9	T	C	5: 123,379,998 (GRCm39)		probably null	Het
Ralgapa1	A	G	12: 55,749,242 (GRCm39)	V1220A	probably damaging	Het
Rbm25	A	T	12: 83,721,166 (GRCm39)	E577D	possibly damaging	Het
Rbm44	T	A	1: 91,079,880 (GRCm39)		probably benign	Het
S100a6	T	C	3: 90,521,119 (GRCm39)	F16L	probably benign	Het
Sar1a	C	A	10: 61,520,945 (GRCm39)	H53Q	probably benign	Het
Setd2	G	A	9: 110,421,613 (GRCm39)	A282T		Het
Slc35f5	A	T	1: 125,517,624 (GRCm39)	H474L	probably damaging	Het
Slc4a3	T	C	1: 75,525,711 (GRCm39)		probably null	Het
Smc1b	G	A	15: 84,981,815 (GRCm39)	S735F	probably damaging	Het
Sp3	A	T	2: 72,800,552 (GRCm39)	I531K	possibly damaging	Het
St6galnac5	A	T	3: 152,545,802 (GRCm39)	M252K	probably damaging	Het
Tas2r120	T	A	6: 132,634,390 (GRCm39)	H157Q	possibly damaging	Het
Tbc1d10b	T	A	7: 126,798,183 (GRCm39)	S653C	probably damaging	Het
Tex10	T	C	4: 48,452,047 (GRCm39)	E693G	possibly damaging	Het
Thada	A	G	17: 84,499,633 (GRCm39)	S1855P	probably benign	Het
Tjp2	G	A	19: 24,091,484 (GRCm39)	P559L	probably damaging	Het
Tmem184b	A	G	15: 79,246,966 (GRCm39)	S368P	probably damaging	Het
Tnc	G	A	4: 63,902,894 (GRCm39)	S1461L	probably benign	Het
Tnpo2	T	C	8: 85,771,328 (GRCm39)	F177S	probably benign	Het
Vmn1r58	A	T	7: 5,413,506 (GRCm39)	Y241*	probably null	Het

Other mutations in Or5k3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01937:Or5k3	APN	16	58,969,827 (GRCm39)	missense	probably benign	0.01
IGL01945:Or5k3	APN	16	58,969,827 (GRCm39)	missense	probably benign	0.01
R0071:Or5k3	UTSW	16	58,969,578 (GRCm39)	missense	probably benign	0.23
R0390:Or5k3	UTSW	16	58,969,662 (GRCm39)	missense	probably benign	0.01
R0601:Or5k3	UTSW	16	58,970,117 (GRCm39)	missense	probably benign	0.00
R1499:Or5k3	UTSW	16	58,969,287 (GRCm39)	missense	probably benign
R1612:Or5k3	UTSW	16	58,969,987 (GRCm39)	missense	probably benign	0.00
R1785:Or5k3	UTSW	16	58,969,660 (GRCm39)	missense	probably damaging	1.00
R2082:Or5k3	UTSW	16	58,969,248 (GRCm39)	missense	probably damaging	0.99
R3605:Or5k3	UTSW	16	58,969,846 (GRCm39)	missense	probably damaging	1.00
R4168:Or5k3	UTSW	16	58,969,363 (GRCm39)	missense	probably benign	0.00
R4839:Or5k3	UTSW	16	58,969,393 (GRCm39)	missense	probably damaging	1.00
R4989:Or5k3	UTSW	16	58,969,981 (GRCm39)	missense	probably damaging	1.00
R5285:Or5k3	UTSW	16	58,969,633 (GRCm39)	missense	probably damaging	1.00
R7107:Or5k3	UTSW	16	58,969,279 (GRCm39)	missense	probably benign	0.10
R7136:Or5k3	UTSW	16	58,969,327 (GRCm39)	missense	probably damaging	1.00
R7317:Or5k3	UTSW	16	58,969,684 (GRCm39)	missense	possibly damaging	0.80
R7601:Or5k3	UTSW	16	58,969,597 (GRCm39)	missense	probably benign	0.01
R7729:Or5k3	UTSW	16	58,969,570 (GRCm39)	missense	probably damaging	1.00
R8208:Or5k3	UTSW	16	58,969,382 (GRCm39)	missense	probably benign	0.41
R8282:Or5k3	UTSW	16	58,969,529 (GRCm39)	nonsense	probably null
R8954:Or5k3	UTSW	16	58,969,319 (GRCm39)	nonsense	probably null
R9137:Or5k3	UTSW	16	58,969,635 (GRCm39)	missense	probably benign	0.30
R9197:Or5k3	UTSW	16	58,969,489 (GRCm39)	missense	probably damaging	0.99
R9396:Or5k3	UTSW	16	58,969,302 (GRCm39)	missense	probably damaging	0.97
R9547:Or5k3	UTSW	16	58,970,107 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- ATCTTTGTGATTCCAGTGGCAAC -3'
(R):5'- TAGCGGTCATAGGCCATTGC -3'

Sequencing Primer
(F):5'- CAACAGAGAAGGTGAGATGGCTG -3'
(R):5'- GCAGTCTGTAGTTTCAGCAAGAC -3'

Posted On

2020-01-23