Mutagenetix > Incidental Mutation

Incidental Mutation 'R8355:Or2y17'

660292

Institutional Source

Beutler Lab

Gene Symbol

Or2y17

Ensembl Gene

ENSMUSG00000045421

Gene Name

olfactory receptor family 2 subfamily Y member 17

Synonyms

GA_x6K02T2QP88-6094111-6093176, MOR256-2, Olfr1390

MMRRC Submission

067869-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R8355 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49231361-49232296 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 49231592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 78 (V78L)

Ref Sequence

ENSEMBL: ENSMUSP00000151059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062719] [ENSMUST00000215014]

AlphaFold

Q8VGW9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062719
AA Change: V78L

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000053611
Gene: ENSMUSG00000045421
AA Change: V78L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	2.5e-45	PFAM
Pfam:7TM_GPCR_Srsx	35	230	2.8e-6	PFAM
Pfam:7tm_1	41	289	2.3e-24	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215014
AA Change: V78L

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (48/49)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,638,478 (GRCm39)	H145Q	probably benign	Het
Acsf2	A	T	11: 94,461,450 (GRCm39)	M293K	probably benign	Het
Ak9	G	A	10: 41,275,700 (GRCm39)	R1112Q		Het
Ano8	T	C	8: 71,933,210 (GRCm39)		probably benign	Het
Ap3b2	A	T	7: 81,122,851 (GRCm39)	V462E	probably damaging	Het
Arid1a	T	C	4: 133,448,174 (GRCm39)	Q498R	unknown	Het
AW011738	C	A	4: 156,287,837 (GRCm39)		probably benign	Het
Bhlhe41	T	A	6: 145,811,028 (GRCm39)		probably null	Het
Bnc1	A	C	7: 81,618,624 (GRCm39)	S814A	probably damaging	Het
Bnip5	T	A	17: 29,122,249 (GRCm39)	Q414L	probably damaging	Het
Cage1	A	T	13: 38,203,225 (GRCm39)	L613H	probably damaging	Het
Camk1g	T	C	1: 193,033,355 (GRCm39)	I231V	probably damaging	Het
Catspere2	T	C	1: 177,845,276 (GRCm39)	Y99H	possibly damaging	Het
Ccdc50	A	G	16: 27,236,101 (GRCm39)	Y145C	probably benign	Het
Cdcp1	A	G	9: 123,002,888 (GRCm39)	S728P	probably benign	Het
Chrm3	A	T	13: 9,928,646 (GRCm39)	M130K	probably damaging	Het
Csf1r	T	C	18: 61,261,222 (GRCm39)	F766S	probably damaging	Het
Dact3	A	G	7: 16,617,125 (GRCm39)	D108G	probably damaging	Het
Dnaaf5	ACCCAGCACCTGGAGATCGTCC	ACC	5: 139,147,614 (GRCm39)		probably null	Het
Dnah8	A	C	17: 30,914,152 (GRCm39)	L1099F	possibly damaging	Het
Ggnbp2	C	T	11: 84,728,815 (GRCm39)		probably null	Het
Gk5	T	C	9: 96,032,839 (GRCm39)	V274A	possibly damaging	Het
Gnpat	T	C	8: 125,597,579 (GRCm39)	F47S	probably benign	Het
Gsap	G	T	5: 21,456,017 (GRCm39)	G374*	probably null	Het
Gtf2h2	A	T	13: 100,605,503 (GRCm39)	F368Y	possibly damaging	Het
Gvin1	A	T	7: 105,757,312 (GRCm39)	W2386R	possibly damaging	Het
Ighe	A	T	12: 113,235,167 (GRCm39)	L331*	probably null	Het
Iqank1	C	A	15: 75,906,073 (GRCm39)	Q87K	probably benign	Het
Itch	T	A	2: 155,052,502 (GRCm39)		probably null	Het
Lars2	G	A	9: 123,283,780 (GRCm39)	A683T	probably damaging	Het
Lin7a	C	T	10: 107,218,497 (GRCm39)	R14C	probably damaging	Het
Lrp2	C	T	2: 69,346,828 (GRCm39)	S806N	probably damaging	Het
Lrrc8e	T	A	8: 4,284,018 (GRCm39)	M81K	probably benign	Het
Mcm3ap	C	A	10: 76,329,335 (GRCm39)	T1172K	probably benign	Het
Mrm3	A	T	11: 76,141,164 (GRCm39)	M391L	possibly damaging	Het
Myo9a	T	C	9: 59,817,130 (GRCm39)	S2278P	probably damaging	Het
Ncln	T	C	10: 81,323,703 (GRCm39)	K511E	probably damaging	Het
Or8b101	A	G	9: 38,020,258 (GRCm39)	K87R	probably benign	Het
Pcdhb10	G	T	18: 37,545,134 (GRCm39)	G70V	probably damaging	Het
Phf24	A	G	4: 42,933,735 (GRCm39)	E39G	probably benign	Het
Plat	C	A	8: 23,261,758 (GRCm39)	S52*	probably null	Het
Pramel52-ps	T	C	5: 94,531,772 (GRCm39)	C219R	probably damaging	Het
Ptpru	C	A	4: 131,535,811 (GRCm39)	G389C	probably damaging	Het
Rnpep	T	C	1: 135,195,005 (GRCm39)	D407G	probably damaging	Het
Rttn	G	A	18: 89,047,016 (GRCm39)	V893I	probably benign	Het
Slit1	A	G	19: 41,634,473 (GRCm39)	L428P	probably damaging	Het
Tet1	T	A	10: 62,652,229 (GRCm39)	L1596F	possibly damaging	Het
Thsd7b	T	C	1: 129,523,616 (GRCm39)	C140R	probably damaging	Het
Usp17le	A	T	7: 104,418,752 (GRCm39)	M130K	possibly damaging	Het
Vmn2r92	T	G	17: 18,405,061 (GRCm39)	I735S	probably damaging	Het
Zbtb42	A	T	12: 112,645,969 (GRCm39)	Y48F	probably damaging	Het
Zbtb43	C	T	2: 33,345,120 (GRCm39)	G35D	possibly damaging	Het
Zfp1005	T	A	2: 150,109,876 (GRCm39)	C189S	unknown	Het

Other mutations in Or2y17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02176:Or2y17	APN	11	49,232,133 (GRCm39)	missense	probably benign	0.44
IGL02334:Or2y17	APN	11	49,232,018 (GRCm39)	missense	probably benign	0.09
IGL02958:Or2y17	APN	11	49,232,127 (GRCm39)	missense	probably benign	0.44
PIT4402001:Or2y17	UTSW	11	49,232,226 (GRCm39)	missense	probably damaging	1.00
R0149:Or2y17	UTSW	11	49,231,641 (GRCm39)	missense	probably benign	0.07
R0361:Or2y17	UTSW	11	49,231,641 (GRCm39)	missense	probably benign	0.07
R0417:Or2y17	UTSW	11	49,231,500 (GRCm39)	missense	possibly damaging	0.88
R1187:Or2y17	UTSW	11	49,231,417 (GRCm39)	missense	probably damaging	1.00
R1859:Or2y17	UTSW	11	49,232,211 (GRCm39)	missense	probably damaging	1.00
R1882:Or2y17	UTSW	11	49,231,539 (GRCm39)	missense	probably damaging	1.00
R1885:Or2y17	UTSW	11	49,231,662 (GRCm39)	missense	probably damaging	1.00
R2193:Or2y17	UTSW	11	49,231,770 (GRCm39)	missense	possibly damaging	0.70
R2322:Or2y17	UTSW	11	49,231,476 (GRCm39)	missense	probably damaging	1.00
R3929:Or2y17	UTSW	11	49,231,820 (GRCm39)	missense	probably benign	0.00
R4739:Or2y17	UTSW	11	49,232,148 (GRCm39)	missense	probably benign	0.00
R4939:Or2y17	UTSW	11	49,231,376 (GRCm39)	missense	probably benign	0.00
R5977:Or2y17	UTSW	11	49,231,592 (GRCm39)	missense	probably damaging	0.96
R6338:Or2y17	UTSW	11	49,231,694 (GRCm39)	missense	probably benign	0.30
R6864:Or2y17	UTSW	11	49,231,580 (GRCm39)	missense	probably damaging	0.99
R7045:Or2y17	UTSW	11	49,231,757 (GRCm39)	missense	probably damaging	0.96
R7276:Or2y17	UTSW	11	49,231,821 (GRCm39)	missense	probably benign	0.33
R7339:Or2y17	UTSW	11	49,231,875 (GRCm39)	missense	not run
R8497:Or2y17	UTSW	11	49,231,721 (GRCm39)	missense	probably damaging	1.00
R8715:Or2y17	UTSW	11	49,232,154 (GRCm39)	missense	probably damaging	1.00
R9587:Or2y17	UTSW	11	49,232,007 (GRCm39)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- GATTTCCCTCAACTGGAACTCC -3'
(R):5'- ATGTCCACAAAGAGGCACCG -3'

Sequencing Primer
(F):5'- CAACTGGAACTCCTTCTCTCTG -3'
(R):5'- CCATCATGAGGCTCGTCTGAATTAG -3'

Posted On

2021-01-18