Mutagenetix > Incidental Mutation

Incidental Mutation 'R9587:Or2y17'

722837

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

Accession Numbers

Essential gene?

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

Stock #

R9587 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49231361-49232296 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 49232007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 216 (S216F)

Ref Sequence

ENSEMBL: ENSMUSP00000151059 (fasta)

Gene Model

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

AlphaFold

Q8VGW9

Predicted Effect

probably benign
Transcript: ENSMUST00000062719
AA Change: S216F

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000053611
Gene: ENSMUSG00000045421
AA Change: S216F

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

probably benign
Transcript: ENSMUST00000215014
AA Change: S216F

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	A	5: 4,119,149 (GRCm39)	L3552Q	probably damaging	Het
Atat1	T	C	17: 36,209,182 (GRCm39)	E353G	probably benign	Het
Banf2	A	G	2: 143,907,452 (GRCm39)	K42R	probably damaging	Het
Cabp7	T	A	11: 4,688,865 (GRCm39)	M202L	probably damaging	Het
Cage1	T	C	13: 38,207,233 (GRCm39)	E204G	probably damaging	Het
Caprin2	A	G	6: 148,770,500 (GRCm39)	V498A	probably benign	Het
Cfap161	A	G	7: 83,440,878 (GRCm39)	F150L	probably damaging	Het
Cyb5r1	G	A	1: 134,335,387 (GRCm39)	G141R	probably damaging	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Dnah9	T	C	11: 65,999,217 (GRCm39)	Q974R	probably null	Het
Eps8l3	G	A	3: 107,798,683 (GRCm39)	R523Q	probably benign	Het
Ext1	T	C	15: 52,955,808 (GRCm39)	I430V	possibly damaging	Het
Gga3	T	C	11: 115,481,717 (GRCm39)	K202R	probably damaging	Het
Gm11567	T	C	11: 99,770,136 (GRCm39)	W25R	unknown	Het
Gpr3	G	A	4: 132,937,988 (GRCm39)	A228V	probably damaging	Het
Krt10	T	C	11: 99,277,420 (GRCm39)	D426G	possibly damaging	Het
Krt24	T	A	11: 99,174,453 (GRCm39)	I205F	probably damaging	Het
Krt33a	T	C	11: 99,906,733 (GRCm39)	N81D	probably damaging	Het
Mapkbp1	T	C	2: 119,847,277 (GRCm39)	S505P	possibly damaging	Het
Matr3	A	G	18: 35,717,876 (GRCm39)	D696G	probably null	Het
Mov10	C	T	3: 104,711,899 (GRCm39)	G158S	probably benign	Het
Myh1	T	A	11: 67,102,196 (GRCm39)	M829K	probably benign	Het
Ncam2	T	C	16: 81,262,501 (GRCm39)	V318A	probably benign	Het
Ndufv3	A	G	17: 31,747,106 (GRCm39)	E332G	probably benign	Het
Ngdn	C	T	14: 55,254,578 (GRCm39)	T43M	probably benign	Het
Nop2	T	A	6: 125,117,785 (GRCm39)	D445E	probably damaging	Het
Or3a10	G	A	11: 73,935,360 (GRCm39)	H247Y	probably damaging	Het
Or5w17	A	T	2: 87,584,184 (GRCm39)	M51K	possibly damaging	Het
Or8u8	A	T	2: 86,011,564 (GRCm39)	V297E	probably damaging	Het
Prl2b1	G	A	13: 27,567,601 (GRCm39)	A181V	probably benign	Het
Ptprg	T	A	14: 12,215,992 (GRCm38)	L1147Q	probably damaging	Het
Rubcn	T	C	16: 32,663,679 (GRCm39)	D319G	probably damaging	Het
Sfswap	G	A	5: 129,618,427 (GRCm39)	D454N	probably benign	Het
Slc38a6	G	T	12: 73,388,513 (GRCm39)	K242N	probably benign	Het
Tmigd3	A	G	3: 105,824,088 (GRCm39)	D19G	probably damaging	Het
Trim36	T	C	18: 46,308,722 (GRCm39)	E380G	probably benign	Het
Ttn	T	A	2: 76,624,976 (GRCm39)	I15201F	probably damaging	Het
Vmn2r12	A	G	5: 109,239,322 (GRCm39)	S414P	probably damaging	Het
Vmn2r82	A	T	10: 79,214,936 (GRCm39)	K306N	possibly damaging	Het
Wdfy4	A	T	14: 32,769,230 (GRCm39)	Y2232*	probably null	Het
Wdr53	A	G	16: 32,075,830 (GRCm39)	D345G	probably damaging	Het
Zfp26	G	A	9: 20,348,213 (GRCm39)	R784C	probably damaging	Het
Zfp58	A	T	13: 67,639,823 (GRCm39)	C223S	probably damaging	Het
Zfp618	A	G	4: 63,051,916 (GRCm39)	H899R		Het
Zfp963	A	G	8: 70,195,692 (GRCm39)	Y254H	probably benign	Het
Zfp994	T	C	17: 22,421,764 (GRCm39)	D17G	probably damaging	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
R8355:Or2y17	UTSW	11	49,231,592 (GRCm39)	missense	possibly damaging	0.89
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

Predicted Primers

PCR Primer
(F):5'- TCAGACGAGCCTCATGATGG -3'
(R):5'- AGTCAGTAGCTCTCCCTAGC -3'

Sequencing Primer
(F):5'- AGCCTCATGATGGCGGTG -3'
(R):5'- ACATCCTTGTTCCTTAGGGTATAG -3'

Posted On

2022-08-09