Mutagenetix > Incidental Mutation

Incidental Mutation 'R7844:Or52d1'

606507

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

045898-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R7844 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103754080-103758973 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 103755690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Tryptophan at position 68 (L68W)

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: L68W

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

SMART Domains

Protein: ENSMUSP00000095784
Gene: ENSMUSG00000073931
AA Change: L68W

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: L68W

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

98% (58/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,423 (GRCm39)	E65G	unknown	Het
Aadacl2fm2	A	T	3: 59,637,318 (GRCm39)	I27F	probably benign	Het
Abcg5	A	T	17: 84,981,018 (GRCm39)	N190K	possibly damaging	Het
Abhd6	A	C	14: 8,039,792 (GRCm38)	H55P	probably benign	Het
Acox3	A	T	5: 35,764,492 (GRCm39)	Q535L	probably benign	Het
Adora1	A	G	1: 134,131,276 (GRCm39)	W132R	probably damaging	Het
Armc3	A	G	2: 19,258,829 (GRCm39)	I299V	possibly damaging	Het
Atp11a	A	G	8: 12,901,039 (GRCm39)	D956G	possibly damaging	Het
Bptf	C	A	11: 106,964,887 (GRCm39)	V1436F	probably damaging	Het
Brd9	A	G	13: 74,086,652 (GRCm39)	Y51C	probably damaging	Het
Cdh18	T	C	15: 23,410,873 (GRCm39)	W453R	probably damaging	Het
Cfap54	T	C	10: 92,737,920 (GRCm39)	Q2326R	unknown	Het
Col4a2	G	T	8: 11,475,453 (GRCm39)	E626*	probably null	Het
Dpp8	A	G	9: 64,952,949 (GRCm39)	I208M	probably damaging	Het
Evi5	T	C	5: 108,022,860 (GRCm39)	R16G	probably benign	Het
Gabrg1	T	C	5: 70,931,675 (GRCm39)	Y356C	probably damaging	Het
Gbp7	G	T	3: 142,242,147 (GRCm39)	V94L	probably benign	Het
Gm4884	A	C	7: 40,690,122 (GRCm39)	Q6P	probably benign	Het
Gm9767	A	T	10: 25,954,255 (GRCm39)		probably benign	Het
Gopc	T	C	10: 52,215,845 (GRCm39)	S448G	possibly damaging	Het
Gpr15	A	T	16: 58,538,873 (GRCm39)	I72N	probably damaging	Het
Hsd17b11	T	A	5: 104,166,132 (GRCm39)	T76S	probably damaging	Het
Inhbe	A	G	10: 127,186,779 (GRCm39)	S134P	possibly damaging	Het
Inpp4b	G	A	8: 82,467,949 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,322,062 (GRCm39)	V556A	probably benign	Het
Klhdc2	T	A	12: 69,349,180 (GRCm39)	F106I	probably damaging	Het
Krt7	G	A	15: 101,310,515 (GRCm39)	G54D	possibly damaging	Het
Mecom	T	G	3: 30,063,973 (GRCm39)	Y39S	unknown	Het
Mrpl49	C	T	19: 6,105,200 (GRCm39)	R87H	probably damaging	Het
Nfat5	A	G	8: 108,085,300 (GRCm39)	D531G	probably damaging	Het
Nlrp9a	A	T	7: 26,262,006 (GRCm39)	K718N	possibly damaging	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Pigu	A	C	2: 155,134,640 (GRCm39)	Y388*	probably null	Het
Pirb	A	T	7: 3,722,410 (GRCm39)	C144*	probably null	Het
Pkm	A	G	9: 59,578,005 (GRCm39)	H274R	probably benign	Het
Plch2	C	A	4: 155,073,922 (GRCm39)	D927Y	probably damaging	Het
Rock1	T	G	18: 10,104,173 (GRCm39)	K596Q	probably damaging	Het
Scaper	A	T	9: 55,722,732 (GRCm39)	M692K	probably benign	Het
Serpine1	C	A	5: 137,100,043 (GRCm39)	G39*	probably null	Het
Serpine2	T	C	1: 79,794,516 (GRCm39)	Q139R	probably benign	Het
Sipa1l1	C	A	12: 82,444,267 (GRCm39)	R993S	probably damaging	Het
Slc12a9	T	C	5: 137,330,448 (GRCm39)	T86A	probably damaging	Het
Slc30a6	G	A	17: 74,711,088 (GRCm39)		probably null	Het
Snrnp48	A	G	13: 38,393,965 (GRCm39)	E90G	probably null	Het
Spaca7b	A	T	8: 11,706,174 (GRCm39)	I120K	probably benign	Het
Spdl1	A	T	11: 34,704,170 (GRCm39)	N554K	possibly damaging	Het
Spon1	G	A	7: 113,629,567 (GRCm39)	V404I	probably benign	Het
Tada3	C	T	6: 113,347,921 (GRCm39)	R300H	probably benign	Het
Tcl1b5	G	A	12: 105,142,815 (GRCm39)		probably null	Het
Tdrd9	A	G	12: 111,964,386 (GRCm39)	Y336C	possibly damaging	Het
Timm44	A	G	8: 4,319,976 (GRCm39)	L64P	possibly damaging	Het
Tpo	A	G	12: 30,150,404 (GRCm39)	L492P	probably damaging	Het
Trip11	T	G	12: 101,844,403 (GRCm39)	Q1565P	probably damaging	Het
Trpm2	A	G	10: 77,759,340 (GRCm39)	I1148T	probably benign	Het
Tshz1	T	C	18: 84,032,296 (GRCm39)	E704G	probably benign	Het
Tysnd1	C	T	10: 61,537,944 (GRCm39)	R541*	probably null	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
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
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'- TGTGCCAAGACAGACAACAG -3'
(R):5'- CTCAGTGGGTTGCAGATAGCTAC -3'

Sequencing Primer
(F):5'- TGAGCGAAAGTCTCCCAGTC -3'
(R):5'- GCTACATATCGATCAAAGGCCATGG -3'

Posted On

2019-12-20