Mutagenetix > Incidental Mutation

Incidental Mutation 'R1051:Or2d2'

93952

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

039141-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.349) question?

Stock #

R1051 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106727559-106728689 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106728123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 159 (D159V)

Ref Sequence

ENSEMBL: ENSMUSP00000150168 (fasta)

Gene Model

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

AlphaFold

Q8VG49

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076958
AA Change: D159V

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000076225
Gene: ENSMUSG00000060503
AA Change: D159V

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

noncoding transcript
Transcript: ENSMUST00000210247

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214919
AA Change: D159V

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	A	G	5: 121,764,143 (GRCm39)	S929P	probably damaging	Het
Acot1	T	C	12: 84,056,378 (GRCm39)	V32A	probably damaging	Het
Ank1	G	A	8: 23,583,956 (GRCm39)	G353D	probably damaging	Het
Baiap2l1	T	A	5: 144,222,943 (GRCm39)	H97L	probably damaging	Het
Casp8ap2	C	A	4: 32,640,790 (GRCm39)	P615T	probably benign	Het
Chrng	A	T	1: 87,136,785 (GRCm39)	D218V	possibly damaging	Het
Col5a3	C	A	9: 20,686,531 (GRCm39)	V1365L	unknown	Het
Ddx49	A	G	8: 70,747,335 (GRCm39)		probably null	Het
Dnaaf2	T	C	12: 69,244,569 (GRCm39)	D164G	probably damaging	Het
Eefsec	A	T	6: 88,274,829 (GRCm39)	D378E	probably benign	Het
Farsb	T	C	1: 78,420,287 (GRCm39)	I535V	possibly damaging	Het
Fat1	T	G	8: 45,497,543 (GRCm39)	S4343A	probably damaging	Het
Fbn2	T	C	18: 58,145,425 (GRCm39)	Y2737C	probably damaging	Het
Gtf3c1	T	C	7: 125,306,821 (GRCm39)	E10G	probably damaging	Het
Has1	T	C	17: 18,068,541 (GRCm39)	D271G	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Il12rb2	A	G	6: 67,333,719 (GRCm39)	F187L	probably benign	Het
Kdsr	G	A	1: 106,675,310 (GRCm39)	Q109*	probably null	Het
Klb	G	A	5: 65,536,670 (GRCm39)	A667T	probably damaging	Het
Krba1	C	T	6: 48,390,332 (GRCm39)	R704C	possibly damaging	Het
Lenep	A	T	3: 89,309,780 (GRCm39)	I56N	possibly damaging	Het
Lipc	T	C	9: 70,709,398 (GRCm39)	I450V	probably benign	Het
Myh6	T	C	14: 55,186,984 (GRCm39)	N1329S	probably benign	Het
Myo5c	T	A	9: 75,198,165 (GRCm39)	M1330K	probably benign	Het
Myo9b	A	G	8: 71,808,466 (GRCm39)	E1691G	probably damaging	Het
Ninl	C	G	2: 150,812,046 (GRCm39)	E240Q	probably damaging	Het
Nlgn1	T	C	3: 25,966,869 (GRCm39)	S195G	probably damaging	Het
Nlrp4c	A	G	7: 6,068,942 (GRCm39)	E281G	probably benign	Het
Olfm2	T	C	9: 20,579,759 (GRCm39)	T331A	probably damaging	Het
Or1o1	A	T	17: 37,717,341 (GRCm39)	I301F	possibly damaging	Het
Or8b9	T	C	9: 37,766,657 (GRCm39)	I181T	probably damaging	Het
Plekhh2	T	C	17: 84,829,255 (GRCm39)		probably null	Het
Pramel4	A	G	4: 143,795,068 (GRCm39)	E485G	possibly damaging	Het
Prss12	A	G	3: 123,279,174 (GRCm39)	D417G	probably null	Het
Rhpn1	A	T	15: 75,584,241 (GRCm39)	Y456F	probably damaging	Het
Rnpc3	C	T	3: 113,423,595 (GRCm39)	E37K	possibly damaging	Het
Rp1l1	T	G	14: 64,269,984 (GRCm39)	L1857V	probably damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sepsecs	C	T	5: 52,822,698 (GRCm39)	A18T	probably damaging	Het
Sgms1	T	A	19: 32,137,439 (GRCm39)	L42F	probably damaging	Het
Sipa1l1	A	T	12: 82,496,119 (GRCm39)	D1720V	possibly damaging	Het
Slc13a3	A	T	2: 165,250,740 (GRCm39)		probably null	Het
Slc25a40	A	T	5: 8,480,450 (GRCm39)	M67L	probably benign	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Spesp1	T	C	9: 62,179,924 (GRCm39)	D328G	possibly damaging	Het
Sspo	T	A	6: 48,468,389 (GRCm39)	C4363*	probably null	Het
Tbc1d8	C	T	1: 39,420,534 (GRCm39)	W666*	probably null	Het
Tubgcp2	T	C	7: 139,578,809 (GRCm39)	D721G	probably benign	Het
Vps54	CTTAAT	CT	11: 21,228,001 (GRCm39)		probably null	Het
Wsb1	T	C	11: 79,137,059 (GRCm39)	S113G	probably damaging	Het
Zfp382	T	C	7: 29,833,435 (GRCm39)	F362S	probably damaging	Het
Zfp553	G	T	7: 126,835,977 (GRCm39)	G511*	probably null	Het
Zfp568	C	T	7: 29,721,954 (GRCm39)	Q299*	probably null	Het
Zfp688	G	A	7: 127,018,397 (GRCm39)	P243S	probably 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
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
R7718:Or2d2	UTSW	7	106,727,925 (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'- AATGCCTTGAACCTCCCAGCAG -3'
(R):5'- GTGTAACTTGTCACTGGCTGACCTC -3'

Sequencing Primer
(F):5'- AGCTGATTTCATCTTGACAACAG -3'
(R):5'- GACTATTTCATTTAGACGCTGTGC -3'

Posted On

2014-01-05