Mutagenetix > Incidental Mutation

Incidental Mutation 'R7718:Or2d2'

595044

Institutional Source

Beutler Lab

Gene Symbol

Or2d2

Ensembl Gene

ENSMUSG00000060503

Gene Name

olfactory receptor family 2 subfamily D member 2

Synonyms

Olfr715, MOR260-1, GA_x6K02T2PBJ9-9479517-9478573

MMRRC Submission

045775-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.364) question?

Stock #

R7718 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106727559-106728689 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106727925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 225 (V225D)

Ref Sequence

ENSEMBL: ENSMUSP00000150168 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076958] [ENSMUST00000214919]

AlphaFold

Q8VG49

Predicted Effect

probably damaging
Transcript: ENSMUST00000076958
AA Change: V225D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076225
Gene: ENSMUSG00000060503
AA Change: V225D

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	1.6e-57	PFAM
Pfam:7TM_GPCR_Srsx	35	222	1.4e-8	PFAM
Pfam:7tm_1	41	288	1.7e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214919
AA Change: V225D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (77/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	A	T	5: 138,646,122 (GRCm39)	H669L	possibly damaging	Het
Abcb1a	A	T	5: 8,765,788 (GRCm39)	N700I	probably damaging	Het
Abcc6	T	C	7: 45,626,816 (GRCm39)	K1414E	possibly damaging	Het
Adcy5	T	C	16: 35,100,785 (GRCm39)	V779A	probably benign	Het
Agap2	A	G	10: 126,915,734 (GRCm39)	S82G	possibly damaging	Het
Aldh1l1	A	G	6: 90,575,305 (GRCm39)	N864S	probably damaging	Het
Ang2	A	T	14: 51,433,217 (GRCm39)	V55E	probably benign	Het
Ank2	A	G	3: 126,758,662 (GRCm39)	M179T	possibly damaging	Het
Atrnl1	T	A	19: 57,728,615 (GRCm39)	C1090*	probably null	Het
Atxn1l	A	G	8: 110,459,866 (GRCm39)	L132P	probably damaging	Het
Bptf	A	G	11: 106,972,282 (GRCm39)	V862A	possibly damaging	Het
Capn11	C	A	17: 45,954,707 (GRCm39)	K143N	probably damaging	Het
Card6	A	G	15: 5,129,269 (GRCm39)	V709A	possibly damaging	Het
Cavin4	C	T	4: 48,671,984 (GRCm39)	A143V	probably benign	Het
Cntn5	A	G	9: 9,984,133 (GRCm39)	I160T	probably benign	Het
Cyp2c40	T	A	19: 39,755,782 (GRCm39)	N511Y	probably benign	Het
Dsc2	A	T	18: 20,174,835 (GRCm39)	I480N	probably damaging	Het
Elf2	G	T	3: 51,173,385 (GRCm39)		probably benign	Het
Enoph1	T	C	5: 100,210,019 (GRCm39)	V133A	possibly damaging	Het
Ezh2	A	T	6: 47,531,125 (GRCm39)	D186E	probably benign	Het
Fcgbpl1	T	C	7: 27,846,626 (GRCm39)	F1106S	probably damaging	Het
Gfra1	T	C	19: 58,441,889 (GRCm39)	D14G	possibly damaging	Het
Gmip	C	T	8: 70,270,383 (GRCm39)	R698W	probably damaging	Het
Grk4	A	G	5: 34,852,160 (GRCm39)	N135D	probably benign	Het
Hspb6	A	G	7: 30,253,772 (GRCm39)	D95G	probably benign	Het
Htatip2	T	G	7: 49,420,632 (GRCm39)	H159Q	possibly damaging	Het
Igfn1	T	C	1: 135,896,774 (GRCm39)	E1264G	probably benign	Het
Insyn2b	T	C	11: 34,352,539 (GRCm39)	S194P	probably benign	Het
Katnb1	T	A	8: 95,821,836 (GRCm39)	V223E	possibly damaging	Het
Klra6	AGG	AG	6: 129,990,315 (GRCm39)		probably null	Het
Masp2	C	T	4: 148,687,204 (GRCm39)	R29C	probably damaging	Het
Mcm3	A	T	1: 20,887,498 (GRCm39)	C123*	probably null	Het
Mdn1	T	C	4: 32,718,420 (GRCm39)	V2225A	probably damaging	Het
Me1	A	G	9: 86,561,953 (GRCm39)	L44S	probably damaging	Het
Mlxip	A	G	5: 123,583,577 (GRCm39)	N380S	probably benign	Het
Muc21	T	C	17: 35,933,728 (GRCm39)	T153A	unknown	Het
Myh14	C	T	7: 44,310,464 (GRCm39)	V140I	probably damaging	Het
Myocd	A	T	11: 65,109,452 (GRCm39)	D106E	probably damaging	Het
Oat	T	C	7: 132,159,988 (GRCm39)	I411V	probably benign	Het
Or5p59	T	C	7: 107,702,855 (GRCm39)	V113A	probably benign	Het
Or8k38	A	G	2: 86,488,373 (GRCm39)	V143A	probably benign	Het
Orc2	A	T	1: 58,519,476 (GRCm39)	H246Q	possibly damaging	Het
Pank4	A	G	4: 155,059,100 (GRCm39)	E411G	probably damaging	Het
Patl2	A	T	2: 121,957,255 (GRCm39)		probably null	Het
Pcdhb15	A	G	18: 37,608,216 (GRCm39)	N483D	probably damaging	Het
Pcdhb20	A	G	18: 37,638,704 (GRCm39)	D410G	probably damaging	Het
Pdcl2	A	G	5: 76,465,846 (GRCm39)	C125R	probably damaging	Het
Peli3	C	G	19: 4,984,584 (GRCm39)		probably null	Het
Pkd1	A	G	17: 24,805,474 (GRCm39)	D3313G	probably benign	Het
Plec	A	C	15: 76,061,639 (GRCm39)	M2766R	probably damaging	Het
Ppargc1a	C	T	5: 51,655,504 (GRCm39)	V99M	probably damaging	Het
Prr35	T	A	17: 26,165,998 (GRCm39)	R430*	probably null	Het
Psg19	G	A	7: 18,526,368 (GRCm39)	A374V	probably benign	Het
Psmd7	A	T	8: 108,313,261 (GRCm39)	F54L	possibly damaging	Het
Ptbp2	C	T	3: 119,514,637 (GRCm39)	G397R	probably null	Het
Ranbp3	A	G	17: 57,003,718 (GRCm39)	D39G	probably damaging	Het
Rcor3	T	C	1: 191,786,021 (GRCm39)	T406A	probably benign	Het
Rhbdl2	T	A	4: 123,718,712 (GRCm39)	I222K	probably damaging	Het
Ripk2	T	C	4: 16,151,968 (GRCm39)	N197S	possibly damaging	Het
Rpia	A	T	6: 70,743,602 (GRCm39)	M283K	probably damaging	Het
Rps6kc1	T	C	1: 190,604,022 (GRCm39)	D200G	probably benign	Het
Sipa1l1	A	T	12: 82,389,271 (GRCm39)	K499M	probably damaging	Het
Slc5a4b	A	G	10: 75,906,407 (GRCm39)	L404P	probably damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Spmip4	G	A	6: 50,566,078 (GRCm39)		probably null	Het
St7	A	C	6: 17,854,998 (GRCm39)	T312P	probably damaging	Het
Strbp	T	C	2: 37,515,294 (GRCm39)	E244G	probably damaging	Het
Tbc1d8	T	G	1: 39,416,061 (GRCm39)	T871P	probably benign	Het
Tcp1	T	A	17: 13,141,049 (GRCm39)	I286N	probably damaging	Het
Tead3	C	A	17: 28,552,491 (GRCm39)	V327F	probably damaging	Het
Tmem132c	A	T	5: 127,640,504 (GRCm39)	T892S	probably benign	Het
Trmt2a	T	C	16: 18,068,487 (GRCm39)	S65P	probably benign	Het
Ubp1	A	G	9: 113,802,597 (GRCm39)	N479S	possibly damaging	Het
Ubtfl1	A	T	9: 18,320,527 (GRCm39)	L18F	possibly damaging	Het
Uevld	T	G	7: 46,587,804 (GRCm39)	M299L	probably benign	Het
Unc13b	T	A	4: 43,173,854 (GRCm39)	Y1561N	unknown	Het
Ylpm1	A	G	12: 85,075,896 (GRCm39)	K874E	probably damaging	Het
Zbtb37	G	A	1: 160,859,802 (GRCm39)	R168W	possibly damaging	Het

Other mutations in Or2d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00963:Or2d2	APN	7	106,728,272 (GRCm39)	nonsense	probably null
IGL02238:Or2d2	APN	7	106,728,244 (GRCm39)	missense	probably damaging	1.00
H8562:Or2d2	UTSW	7	106,728,448 (GRCm39)	missense	probably benign	0.00
PIT4810001:Or2d2	UTSW	7	106,727,766 (GRCm39)	missense	probably benign	0.11
R0440:Or2d2	UTSW	7	106,727,939 (GRCm39)	missense	probably benign	0.03
R0592:Or2d2	UTSW	7	106,728,550 (GRCm39)	missense	probably benign	0.02
R1051:Or2d2	UTSW	7	106,728,123 (GRCm39)	missense	possibly damaging	0.94
R1959:Or2d2	UTSW	7	106,727,717 (GRCm39)	missense	possibly damaging	0.76
R4237:Or2d2	UTSW	7	106,728,244 (GRCm39)	missense	probably damaging	1.00
R4985:Or2d2	UTSW	7	106,728,234 (GRCm39)	missense	probably damaging	1.00
R4994:Or2d2	UTSW	7	106,728,271 (GRCm39)	missense	probably benign	0.03
R6376:Or2d2	UTSW	7	106,727,848 (GRCm39)	missense	probably benign	0.39
R6931:Or2d2	UTSW	7	106,728,108 (GRCm39)	missense	probably damaging	1.00
R7593:Or2d2	UTSW	7	106,727,782 (GRCm39)	missense	probably damaging	1.00
R8224:Or2d2	UTSW	7	106,728,079 (GRCm39)	missense	probably damaging	0.99
R8390:Or2d2	UTSW	7	106,728,522 (GRCm39)	missense	probably benign	0.02
R8756:Or2d2	UTSW	7	106,728,019 (GRCm39)	missense	probably benign
R9269:Or2d2	UTSW	7	106,727,833 (GRCm39)	missense	probably benign	0.16
R9741:Or2d2	UTSW	7	106,728,366 (GRCm39)	missense	possibly damaging	0.93
Z1177:Or2d2	UTSW	7	106,728,307 (GRCm39)	missense	probably benign	0.07
Z1177:Or2d2	UTSW	7	106,728,091 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGGCTACTTTCCACAAAGCTC -3'
(R):5'- ATCGAGGCAGCAACAGTATTG -3'

Sequencing Primer
(F):5'- GGGATTAAGCATAGGTGTCACCATTG -3'
(R):5'- AACAGTATTGCTCACTTCTTTTGTG -3'

Posted On

2019-11-12