Mutagenetix > Incidental Mutation

Incidental Mutation 'R0109:Or52d1'

64201

Institutional Source

Beutler Lab

Gene Symbol

Or52d1

Ensembl Gene

ENSMUSG00000073931

Gene Name

olfactory receptor family 52 subfamily D member 1

Synonyms

Olfr646, MOR33-2, GA_x6K02T2PBJ9-6841330-6842268

MMRRC Submission

038395-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R0109 (G1)

Quality Score

155

Status

Not validated

Chromosome

Chromosomal Location

103754080-103758973 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103755812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 109 (S109P)

Ref Sequence

ENSEMBL: ENSMUSP00000149102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098182] [ENSMUST00000138055] [ENSMUST00000214099]

AlphaFold

Q8VGW2

Predicted Effect

probably damaging
Transcript: ENSMUST00000098182
AA Change: S109P

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

SMART Domains

Protein: ENSMUSP00000095784
Gene: ENSMUSG00000073931
AA Change: S109P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	307	1.9e-109	PFAM
Pfam:7TM_GPCR_Srsx	32	225	6.1e-10	PFAM
Pfam:7tm_1	38	290	3.3e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138055

SMART Domains

Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000214099
AA Change: S109P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214291

Meta Mutation Damage Score

0.6131

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.6%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,917,985 (GRCm39)	K1496*	probably null	Het
Anapc1	C	A	2: 128,476,613 (GRCm39)	R1335L	probably damaging	Het
Arhgef10l	A	T	4: 140,305,605 (GRCm39)	S203T	probably benign	Het
Astn1	C	T	1: 158,491,674 (GRCm39)	T41I	possibly damaging	Het
Avil	A	G	10: 126,849,513 (GRCm39)	N603S	probably benign	Het
Brca1	T	C	11: 101,421,916 (GRCm39)	D149G	possibly damaging	Het
Col19a1	A	C	1: 24,598,849 (GRCm39)		probably null	Het
Cps1	T	C	1: 67,268,577 (GRCm39)	V1435A	possibly damaging	Het
Cyp2j6	A	T	4: 96,406,394 (GRCm39)	I459N	probably damaging	Het
Cyth1	T	C	11: 118,073,132 (GRCm39)	E242G	probably damaging	Het
Dclk3	T	G	9: 111,296,738 (GRCm39)	L94R	possibly damaging	Het
Dsg3	T	C	18: 20,673,191 (GRCm39)	V954A	probably damaging	Het
Dync2h1	T	A	9: 7,111,487 (GRCm39)	D309V	probably damaging	Het
Efhd2	A	G	4: 141,601,878 (GRCm39)	F101L	probably benign	Het
Fgd5	T	A	6: 91,965,216 (GRCm39)	M325K	possibly damaging	Het
Fras1	T	C	5: 96,857,936 (GRCm39)	S2077P	probably benign	Het
Frmpd1	A	T	4: 45,279,340 (GRCm39)	E688D	probably benign	Het
Hspg2	T	C	4: 137,289,512 (GRCm39)	V3824A	probably benign	Het
Kctd16	A	G	18: 40,392,204 (GRCm39)	E264G	probably benign	Het
Mapk15	A	T	15: 75,867,926 (GRCm39)	K153*	probably null	Het
Miox	G	A	15: 89,219,784 (GRCm39)	V91I	probably benign	Het
Nfyb	G	A	10: 82,590,836 (GRCm39)	A65V	possibly damaging	Het
Or4a69	A	G	2: 89,313,147 (GRCm39)	F111L	probably benign	Het
Or5b94	C	A	19: 12,652,224 (GRCm39)	F218L	probably benign	Het
Parp9	T	C	16: 35,768,711 (GRCm39)	I64T	probably damaging	Het
Pfkfb4	T	C	9: 108,827,957 (GRCm39)	V43A	probably benign	Het
Pgap1	A	T	1: 54,533,984 (GRCm39)	V643E	probably damaging	Het
Pip5k1b	T	A	19: 24,356,411 (GRCm39)	M176L	probably benign	Het
Ppfia4	A	T	1: 134,251,955 (GRCm39)		probably null	Het
Prdx2	G	A	8: 85,696,880 (GRCm39)	G4S	probably benign	Het
Rin3	A	G	12: 102,279,340 (GRCm39)	I50V	possibly damaging	Het
Rtl1	G	A	12: 109,561,841 (GRCm39)		probably benign	Het
Sgsm3	G	C	15: 80,893,667 (GRCm39)	D434H	probably damaging	Het
Shank2	T	C	7: 143,964,314 (GRCm39)	S634P	possibly damaging	Het
Sik2	A	G	9: 50,810,775 (GRCm39)	M447T	possibly damaging	Het
Sla2	A	G	2: 156,725,507 (GRCm39)		probably null	Het
Spata16	T	A	3: 26,967,416 (GRCm39)	F389I	probably damaging	Het
Srebf1	G	A	11: 60,092,630 (GRCm39)	A793V	probably benign	Het
Tmed11	T	A	5: 108,925,278 (GRCm39)	D178V	probably damaging	Het
Traf7	A	G	17: 24,732,900 (GRCm39)	F110L	probably benign	Het
Ttn	T	A	2: 76,555,908 (GRCm39)	I30366F	probably damaging	Het
Ubqlnl	C	T	7: 103,799,399 (GRCm39)	V33M	probably damaging	Het
Vmn1r194	A	G	13: 22,429,217 (GRCm39)	Y278C	probably damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r114	A	T	17: 23,529,549 (GRCm39)	Y184*	probably null	Het
Vmn2r53	C	T	7: 12,315,993 (GRCm39)	A609T	probably damaging	Het
Vps13b	A	G	15: 35,572,265 (GRCm39)	T961A	probably benign	Het
Xirp2	T	A	2: 67,349,622 (GRCm39)	N3272K	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp454	T	A	11: 50,774,602 (GRCm39)	T24S	possibly damaging	Het

Other mutations in Or52d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01779:Or52d1	APN	7	103,755,840 (GRCm39)	missense	probably damaging	1.00
IGL02454:Or52d1	APN	7	103,755,819 (GRCm39)	missense	probably damaging	0.96
IGL02588:Or52d1	APN	7	103,756,260 (GRCm39)	missense	possibly damaging	0.94
IGL02961:Or52d1	APN	7	103,756,357 (GRCm39)	nonsense	probably null
IGL03092:Or52d1	APN	7	103,755,854 (GRCm39)	missense	probably damaging	0.99
PIT4402001:Or52d1	UTSW	7	103,755,657 (GRCm39)	missense	probably damaging	1.00
R0006:Or52d1	UTSW	7	103,755,527 (GRCm39)	missense	probably benign	0.00
R0109:Or52d1	UTSW	7	103,755,812 (GRCm39)	missense	probably damaging	1.00
R0601:Or52d1	UTSW	7	103,756,349 (GRCm39)	missense	possibly damaging	0.83
R0732:Or52d1	UTSW	7	103,755,501 (GRCm39)	missense	probably damaging	1.00
R1320:Or52d1	UTSW	7	103,755,687 (GRCm39)	missense	probably damaging	1.00
R1468:Or52d1	UTSW	7	103,755,896 (GRCm39)	missense	possibly damaging	0.82
R1468:Or52d1	UTSW	7	103,755,896 (GRCm39)	missense	possibly damaging	0.82
R1513:Or52d1	UTSW	7	103,755,671 (GRCm39)	missense	probably benign	0.02
R5486:Or52d1	UTSW	7	103,755,705 (GRCm39)	missense	probably damaging	0.99
R6110:Or52d1	UTSW	7	103,755,779 (GRCm39)	missense	probably damaging	1.00
R6497:Or52d1	UTSW	7	103,756,422 (GRCm39)	intron	probably benign
R6856:Or52d1	UTSW	7	103,755,998 (GRCm39)	missense	probably benign	0.00
R7766:Or52d1	UTSW	7	103,756,201 (GRCm39)	nonsense	probably null
R7789:Or52d1	UTSW	7	103,756,195 (GRCm39)	missense	probably damaging	0.99
R7844:Or52d1	UTSW	7	103,755,690 (GRCm39)	missense	probably damaging	1.00
R8888:Or52d1	UTSW	7	103,756,302 (GRCm39)	missense	probably damaging	1.00
R8895:Or52d1	UTSW	7	103,756,302 (GRCm39)	missense	probably damaging	1.00
R9167:Or52d1	UTSW	7	103,756,426 (GRCm39)	makesense	probably null
R9178:Or52d1	UTSW	7	103,755,720 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGGAATGCTGCCCTCATCCTTATC -3'
(R):5'- GCCTAGCAATGCCCATATGCTCAC -3'

Sequencing Primer
(F):5'- CTCATCCTTATCATTGGGACAGAGAG -3'
(R):5'- TGACACGGTGACCACAGTAG -3'

Posted On

2013-08-06