Mutagenetix > Incidental Mutation

Incidental Mutation 'R6864:Or2y17'

535819

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

044964-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R6864 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49231361-49232296 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49231580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 74 (T74S)

Ref Sequence

ENSEMBL: ENSMUSP00000151059 (fasta)

Gene Model

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

AlphaFold

Q8VGW9

Predicted Effect

probably damaging
Transcript: ENSMUST00000062719
AA Change: T74S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000053611
Gene: ENSMUSG00000045421
AA Change: T74S

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 damaging
Transcript: ENSMUST00000215014
AA Change: T74S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Meta Mutation Damage Score

0.3186

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

100% (60/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	C	T	17: 57,785,879 (GRCm39)	T875I	probably damaging	Het
Anln	A	T	9: 22,293,545 (GRCm39)	S33T	probably benign	Het
Anxa6	T	C	11: 54,877,011 (GRCm39)	T541A	probably benign	Het
Atxn2	C	T	5: 121,917,557 (GRCm39)	R334W	probably damaging	Het
AU040320	T	A	4: 126,741,612 (GRCm39)	V940D	probably damaging	Het
Bcl2	A	T	1: 106,471,011 (GRCm39)	Y232N	probably damaging	Het
Bmp7	A	G	2: 172,781,855 (GRCm39)	V3A	probably benign	Het
Calr	A	T	8: 85,571,557 (GRCm39)	H145Q	probably damaging	Het
Camta2	T	A	11: 70,562,792 (GRCm39)	T976S	probably benign	Het
Ccnk	G	A	12: 108,168,473 (GRCm39)		probably benign	Het
Cntln	T	C	4: 85,015,029 (GRCm39)	S1107P	probably damaging	Het
Cradd	T	C	10: 95,011,789 (GRCm39)	D117G	probably damaging	Het
Dcaf7	C	T	11: 105,937,647 (GRCm39)	T90I	probably damaging	Het
Defb30	T	A	14: 63,273,552 (GRCm39)		probably null	Het
Dock4	T	A	12: 40,795,745 (GRCm39)	I854N	probably damaging	Het
Dym	T	A	18: 75,189,809 (GRCm39)	Y132*	probably null	Het
Eef1a2	T	C	2: 180,791,477 (GRCm39)	T341A	probably benign	Het
Eml2	T	C	7: 18,930,206 (GRCm39)	V309A	probably damaging	Het
Flnb	C	T	14: 7,905,640 (GRCm38)	P1130L	possibly damaging	Het
Hivep3	C	A	4: 119,952,085 (GRCm39)	Q134K	possibly damaging	Het
Kbtbd2	T	A	6: 56,757,011 (GRCm39)	K242*	probably null	Het
Kel	A	G	6: 41,680,694 (GRCm39)		probably null	Het
Lcorl	T	A	5: 45,904,546 (GRCm39)	K177N	probably damaging	Het
Mbd3l2	A	G	9: 18,354,795 (GRCm39)		probably benign	Het
Mcm3ap	A	G	10: 76,343,313 (GRCm39)	D1735G	probably damaging	Het
Ms4a1	C	A	19: 11,230,542 (GRCm39)		probably null	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Mylk	C	A	16: 34,694,520 (GRCm39)	P193Q	probably benign	Het
Or1j11	T	A	2: 36,311,832 (GRCm39)	C141S	probably damaging	Het
Or2y16	G	T	11: 49,334,767 (GRCm39)	A30S	probably benign	Het
Or4d10b	A	T	19: 12,036,777 (GRCm39)	F113Y	probably damaging	Het
Or4f52	C	T	2: 111,061,542 (GRCm39)	V199I	probably benign	Het
Otogl	C	T	10: 107,663,667 (GRCm39)	S968N	probably damaging	Het
Oxr1	T	G	15: 41,686,783 (GRCm39)	V555G	probably damaging	Het
Parp12	T	C	6: 39,088,670 (GRCm39)	I189V	probably benign	Het
Peg3	T	C	7: 6,715,761 (GRCm39)	Y103C	probably damaging	Het
Plekhh2	T	C	17: 84,925,427 (GRCm39)	V1408A	probably benign	Het
Prkacb	T	C	3: 146,451,133 (GRCm39)	Y204C	probably damaging	Het
Prkch	A	G	12: 73,806,391 (GRCm39)	E546G	probably damaging	Het
Prss12	C	A	3: 123,241,033 (GRCm39)	H76N	probably benign	Het
Rai14	G	T	15: 10,633,254 (GRCm39)	S45R	possibly damaging	Het
Samd9l	T	A	6: 3,374,750 (GRCm39)	D837V	probably benign	Het
Slc22a6	G	T	19: 8,595,805 (GRCm39)	C49F	probably damaging	Het
Slc2a2	T	A	3: 28,775,874 (GRCm39)	I328N	probably damaging	Het
Slc35f4	T	C	14: 49,556,310 (GRCm39)	I148V	possibly damaging	Het
Stk32b	A	T	5: 37,606,149 (GRCm39)		probably null	Het
Tasor	T	A	14: 27,183,115 (GRCm39)	F525I	probably damaging	Het
Tktl2	T	C	8: 66,964,991 (GRCm39)	I183T	probably damaging	Het
Tmem175	A	C	5: 108,793,845 (GRCm39)	H325P	probably damaging	Het
Tns3	A	G	11: 8,443,196 (GRCm39)	V389A	probably damaging	Het
Trappc9	A	T	15: 72,809,011 (GRCm39)		probably null	Het
Trim28	T	A	7: 12,763,385 (GRCm39)	F509I	possibly damaging	Het
Vmn1r210	T	A	13: 23,011,713 (GRCm39)	Q191L	probably benign	Het
Vmn2r24	A	T	6: 123,756,117 (GRCm39)	D63V	possibly damaging	Het
Zfp536	A	G	7: 37,267,940 (GRCm39)	L492P	probably damaging	Het
Zfp831	C	A	2: 174,488,533 (GRCm39)	N1069K	possibly damaging	Het
Zfp943	T	A	17: 22,211,593 (GRCm39)	H226Q	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
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
R9587:Or2y17	UTSW	11	49,232,007 (GRCm39)	missense	probably benign	0.22

Predicted Primers

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

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

Posted On

2018-10-18