Mutagenetix > Incidental Mutation

Incidental Mutation 'R9205:Or5k17'

698479

Institutional Source

Beutler Lab

Gene Symbol

Or5k17

Ensembl Gene

ENSMUSG00000090951

Gene Name

olfactory receptor family 5 subfamily K member 17

Synonyms

Olfr181, MOR184-4, GA_x54KRFPKG5P-55145984-55145034

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R9205 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58745920-58749007 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 58746485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 150 (I150L)

Ref Sequence

ENSEMBL: ENSMUSP00000074825 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075361] [ENSMUST00000205668] [ENSMUST00000205742] [ENSMUST00000205986] [ENSMUST00000206168]

AlphaFold

Q8VGQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000075361
AA Change: I150L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000074825
Gene: ENSMUSG00000090951
AA Change: I150L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	5.7e-52	PFAM
Pfam:7TM_GPCR_Srsx	35	308	6.1e-6	PFAM
Pfam:7tm_1	41	308	3.3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205668

Predicted Effect

probably benign
Transcript: ENSMUST00000205742
AA Change: I150L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000205986
AA Change: I150L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000206168

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.3%

Validation Efficiency

95% (76/80)

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

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	T	A	6: 140,587,954 (GRCm39)	H341Q	probably damaging	Het
Apob	G	A	12: 8,030,635 (GRCm39)	A125T	probably damaging	Het
Bace2	G	T	16: 97,158,059 (GRCm39)	A20S	unknown	Het
Bcar1	T	C	8: 112,442,341 (GRCm39)	Y238C	probably damaging	Het
Brinp3	A	T	1: 146,777,827 (GRCm39)	D758V	possibly damaging	Het
Btnl10	T	C	11: 58,811,345 (GRCm39)	S223P	probably damaging	Het
Cckar	C	T	5: 53,864,587 (GRCm39)		probably null	Het
Cdhr2	A	G	13: 54,861,801 (GRCm39)	N66S	probably benign	Het
Chd9	A	G	8: 91,757,270 (GRCm39)	M1890V	probably benign	Het
Col6a5	C	T	9: 105,755,837 (GRCm39)	G2196R	probably damaging	Het
Col9a1	T	G	1: 24,224,175 (GRCm39)	M119R	unknown	Het
Cryaa	A	G	17: 31,898,642 (GRCm39)	H123R	probably damaging	Het
Cux1	A	T	5: 136,398,989 (GRCm39)	D171E	probably damaging	Het
Dgkz	T	A	2: 91,764,144 (GRCm39)	T1067S	probably benign	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
Dnah5	T	C	15: 28,448,480 (GRCm39)	M4181T	possibly damaging	Het
Dnajb14	A	G	3: 137,614,145 (GRCm39)	E352G	possibly damaging	Het
Dnmt3l	T	A	10: 77,892,586 (GRCm39)		probably null	Het
Dph6	T	C	2: 114,399,995 (GRCm39)	I117V	probably damaging	Het
Dsg1a	A	G	18: 20,473,228 (GRCm39)	D767G	probably damaging	Het
Edn3	C	T	2: 174,603,482 (GRCm39)	P77S	possibly damaging	Het
Fbln7	A	C	2: 128,737,168 (GRCm39)	S328R	probably null	Het
Fbn2	T	C	18: 58,192,428 (GRCm39)	R1518G	probably damaging	Het
Foxi2	A	T	7: 135,013,525 (GRCm39)	T252S	probably benign	Het
Foxred2	A	G	15: 77,836,206 (GRCm39)	S384P	probably damaging	Het
Gdpd1	G	A	11: 86,936,009 (GRCm39)	H174Y	probably benign	Het
Gm10542	A	C	18: 44,337,705 (GRCm39)	D61A	possibly damaging	Het
Gm10563	TTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	4: 155,720,307 (GRCm39)		probably benign	Het
H2-Ab1	A	G	17: 34,483,981 (GRCm39)	E114G	probably damaging	Het
Htt	C	T	5: 34,976,367 (GRCm39)	T723M	probably benign	Het
Igfn1	C	T	1: 135,903,695 (GRCm39)	V348I	probably damaging	Het
Itpr1	T	A	6: 108,466,810 (GRCm39)	L2173Q	probably damaging	Het
Lamp5	A	G	2: 135,901,521 (GRCm39)	Y115C	probably damaging	Het
Lrp1	T	A	10: 127,430,850 (GRCm39)	K400*	probably null	Het
Man2a2	C	T	7: 80,010,868 (GRCm39)	V708I	probably benign	Het
Matr3	T	C	18: 35,720,774 (GRCm39)	S746P	probably benign	Het
Me1	C	T	9: 86,480,847 (GRCm39)	V353M	probably benign	Het
Mideas	A	C	12: 84,199,661 (GRCm39)	F1020V	probably benign	Het
Nbeal1	T	A	1: 60,317,839 (GRCm39)	D1925E	probably damaging	Het
Oca2	T	A	7: 55,966,168 (GRCm39)	F387I	probably damaging	Het
Opn3	G	T	1: 175,490,655 (GRCm39)	N335K	probably benign	Het
Or5d36	T	A	2: 87,900,778 (GRCm39)	H316L	probably benign	Het
Or6d12	T	A	6: 116,493,315 (GRCm39)	N192K	probably benign	Het
Or6k2	T	C	1: 173,986,456 (GRCm39)	I39T	probably benign	Het
Or8b48	T	A	9: 38,493,373 (GRCm39)	S267T	probably benign	Het
Osm	A	G	11: 4,188,504 (GRCm39)	N44D	possibly damaging	Het
Otop2	T	C	11: 115,219,912 (GRCm39)	Y251H	probably damaging	Het
Pappa	T	C	4: 65,074,612 (GRCm39)	S389P	possibly damaging	Het
Polr1d	C	T	5: 147,038,068 (GRCm39)	A19V	probably damaging	Het
Ptchd4	G	A	17: 42,814,276 (GRCm39)	V726M	probably benign	Het
Pzp	T	A	6: 128,473,626 (GRCm39)	D731V	probably benign	Het
Rgl2	A	T	17: 34,155,002 (GRCm39)	I669F	probably damaging	Het
Rpl38	T	C	11: 114,563,114 (GRCm39)	*71R	probably null	Het
Rufy1	G	A	11: 50,289,301 (GRCm39)	R514W	probably damaging	Het
Ruvbl2	G	A	7: 45,083,741 (GRCm39)		probably benign	Het
Scn9a	T	G	2: 66,363,657 (GRCm39)	I874L	probably damaging	Het
Slc14a2	A	G	18: 78,238,951 (GRCm39)	S85P	probably benign	Het
Slc17a1	A	G	13: 24,062,794 (GRCm39)	I287V	probably benign	Het
Slc35f3	T	A	8: 127,115,928 (GRCm39)	I285N	probably damaging	Het
Slx4	A	G	16: 3,805,927 (GRCm39)	S542P	possibly damaging	Het
Sox30	A	T	11: 45,908,180 (GRCm39)	L782F	probably damaging	Het
Sspo	A	G	6: 48,432,806 (GRCm39)	N894S	probably benign	Het
Syne1	G	A	10: 5,152,013 (GRCm39)	Q5765*	probably null	Het
Taar7e	T	C	10: 23,913,972 (GRCm39)	I154T	probably benign	Het
Tars1	A	G	15: 11,397,265 (GRCm39)		probably null	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tmem198b	A	T	10: 128,639,057 (GRCm39)	C29S	probably damaging	Het
Tnr	A	C	1: 159,722,617 (GRCm39)	M1021L	probably benign	Het
Tom1l1	G	A	11: 90,548,644 (GRCm39)	P309L	probably damaging	Het
Traf4	A	G	11: 78,051,927 (GRCm39)	S186P	probably benign	Het
Trpm1	T	G	7: 63,890,319 (GRCm39)	V974G	possibly damaging	Het
Tsga10	T	A	1: 37,880,359 (GRCm39)		probably benign	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Vmn2r93	A	T	17: 18,524,281 (GRCm39)	I92F	probably damaging	Het
Zfp457	A	T	13: 67,441,965 (GRCm39)	D203E	probably benign	Het
Zfp518b	G	A	5: 38,831,501 (GRCm39)	S168F	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,774,800 (GRCm39)		probably benign	Het
Zfp777	G	A	6: 48,002,521 (GRCm39)	T523M	probably benign	Het

Other mutations in Or5k17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01845:Or5k17	APN	16	58,746,929 (GRCm39)	missense	probably benign
IGL02477:Or5k17	APN	16	58,746,126 (GRCm39)	missense	probably benign	0.07
IGL02545:Or5k17	APN	16	58,746,833 (GRCm39)	missense	possibly damaging	0.88
IGL02690:Or5k17	APN	16	58,746,214 (GRCm39)	missense	possibly damaging	0.78
IGL02718:Or5k17	APN	16	58,746,459 (GRCm39)	missense	possibly damaging	0.57
IGL02945:Or5k17	APN	16	58,746,703 (GRCm39)	missense	probably damaging	1.00
IGL03349:Or5k17	APN	16	58,746,323 (GRCm39)	missense	probably benign	0.00
B5639:Or5k17	UTSW	16	58,746,889 (GRCm39)	missense	probably benign	0.00
R0550:Or5k17	UTSW	16	58,746,748 (GRCm39)	missense	probably damaging	1.00
R0659:Or5k17	UTSW	16	58,746,772 (GRCm39)	missense	possibly damaging	0.94
R1433:Or5k17	UTSW	16	58,746,049 (GRCm39)	missense	probably benign
R1957:Or5k17	UTSW	16	58,746,530 (GRCm39)	missense	probably benign
R2155:Or5k17	UTSW	16	58,746,486 (GRCm39)	missense	probably benign	0.01
R2404:Or5k17	UTSW	16	58,745,998 (GRCm39)	missense	probably benign	0.01
R2568:Or5k17	UTSW	16	58,746,286 (GRCm39)	missense	probably benign	0.27
R4022:Or5k17	UTSW	16	58,746,483 (GRCm39)	missense	possibly damaging	0.94
R4592:Or5k17	UTSW	16	58,746,455 (GRCm39)	missense	probably benign	0.00
R4673:Or5k17	UTSW	16	58,746,053 (GRCm39)	missense	possibly damaging	0.61
R4880:Or5k17	UTSW	16	58,746,463 (GRCm39)	missense	probably damaging	0.98
R5109:Or5k17	UTSW	16	58,746,422 (GRCm39)	missense	probably benign	0.10
R5231:Or5k17	UTSW	16	58,746,077 (GRCm39)	missense	possibly damaging	0.94
R5291:Or5k17	UTSW	16	58,746,764 (GRCm39)	missense	possibly damaging	0.96
R5477:Or5k17	UTSW	16	58,746,393 (GRCm39)	missense	possibly damaging	0.61
R5524:Or5k17	UTSW	16	58,746,172 (GRCm39)	missense	probably benign	0.00
R5809:Or5k17	UTSW	16	58,746,860 (GRCm39)	missense	probably benign
R5830:Or5k17	UTSW	16	58,746,457 (GRCm39)	missense	possibly damaging	0.64
R6119:Or5k17	UTSW	16	58,746,895 (GRCm39)	missense	possibly damaging	0.94
R6217:Or5k17	UTSW	16	58,746,877 (GRCm39)	missense	probably benign	0.03
R6861:Or5k17	UTSW	16	58,746,867 (GRCm39)	missense	probably benign
R6939:Or5k17	UTSW	16	58,746,648 (GRCm39)	nonsense	probably null
R7376:Or5k17	UTSW	16	58,746,121 (GRCm39)	missense	possibly damaging	0.82
R7650:Or5k17	UTSW	16	58,746,416 (GRCm39)	nonsense	probably null
R8153:Or5k17	UTSW	16	58,746,149 (GRCm39)	missense	possibly damaging	0.47
R8947:Or5k17	UTSW	16	58,746,433 (GRCm39)	missense	probably benign
R9205:Or5k17	UTSW	16	58,746,486 (GRCm39)	missense	probably benign	0.01
R9318:Or5k17	UTSW	16	58,746,271 (GRCm39)	missense	probably damaging	1.00
R9654:Or5k17	UTSW	16	58,746,752 (GRCm39)	missense	probably benign	0.00
R9678:Or5k17	UTSW	16	58,746,640 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- TGCAGCTGTAAGAGACCAAG -3'
(R):5'- TGTGGACAGGAGGATTTCTCTC -3'

Sequencing Primer
(F):5'- TGGTAATGGTAAAGACTTGAATTGGC -3'
(R):5'- CTCTCTATGAGTGCATGGTACAG -3'

Posted On

2022-02-07