Mutagenetix > Incidental Mutation

Incidental Mutation 'R6110:Or52d1'

484786

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

044428-MU

Accession Numbers

Essential gene?

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

Stock #

R6110 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103754080-103758973 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103755779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 98 (M98V)

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: M98V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000095784
Gene: ENSMUSG00000073931
AA Change: M98V

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: M98V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214291

Meta Mutation Damage Score

0.1874

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.7%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7b	T	C	4: 56,740,224 (GRCm39)	E378G	probably damaging	Het
Adam17	A	T	12: 21,403,949 (GRCm39)	V99E	probably damaging	Het
Alkal2	G	A	12: 30,937,057 (GRCm39)	R90Q	probably damaging	Het
Amy1	C	T	3: 113,355,549 (GRCm39)	V309M	probably damaging	Het
Apob	T	C	12: 8,061,883 (GRCm39)	L3455P	probably damaging	Het
Ash1l	T	A	3: 88,892,436 (GRCm39)	H1438Q	probably damaging	Het
BC024139	A	G	15: 76,003,996 (GRCm39)	S757P	probably benign	Het
Btd	G	A	14: 31,363,065 (GRCm39)		probably benign	Het
C2cd3	T	A	7: 100,090,283 (GRCm39)	F462Y	probably damaging	Het
C4bp	T	A	1: 130,566,809 (GRCm39)	K177*	probably null	Het
Cacna1h	G	T	17: 25,610,250 (GRCm39)	P752Q	probably benign	Het
Cd34	G	A	1: 194,631,877 (GRCm39)		probably null	Het
Cimap1a	G	T	7: 140,428,554 (GRCm39)	R73L	possibly damaging	Het
Clptm1	G	A	7: 19,367,731 (GRCm39)		probably benign	Het
Dip2c	T	C	13: 9,673,802 (GRCm39)	S1081P	probably damaging	Het
Dnm3	CAGCCTTCGTTGGGTG	C	1: 161,838,637 (GRCm39)		probably benign	Het
Efcab6	T	G	15: 83,763,835 (GRCm39)	M1166L	possibly damaging	Het
Fam151a	G	A	4: 106,605,395 (GRCm39)	V586M	probably damaging	Het
Fap	T	G	2: 62,385,114 (GRCm39)	Y54S	possibly damaging	Het
Grhl1	A	G	12: 24,630,746 (GRCm39)		probably null	Het
Hcrtr2	T	C	9: 76,167,064 (GRCm39)	Y91C	probably damaging	Het
Ift70b	T	C	2: 75,768,144 (GRCm39)	Y203C	probably damaging	Het
Kat6b	C	T	14: 21,720,555 (GRCm39)	R1745C	probably damaging	Het
Kdm5a	T	C	6: 120,389,267 (GRCm39)	L898P	probably damaging	Het
Lipo5	T	C	19: 33,445,317 (GRCm39)	Q84R	unknown	Het
Mfn1	G	A	3: 32,617,173 (GRCm39)	M18I	probably benign	Het
Mptx2	G	A	1: 173,102,414 (GRCm39)	L92F	probably benign	Het
Mtfmt	T	C	9: 65,354,586 (GRCm39)		probably null	Het
Nsun2	C	G	13: 69,775,767 (GRCm39)	Q404E	probably benign	Het
Or1j17	T	C	2: 36,578,559 (GRCm39)	S182P	probably benign	Het
Or2at4	C	T	7: 99,384,377 (GRCm39)	S9L	possibly damaging	Het
Or5b123	C	T	19: 13,597,249 (GRCm39)	A241V	probably benign	Het
Or5j3	T	A	2: 86,129,019 (GRCm39)	N286K	probably damaging	Het
Or5p70	G	T	7: 107,995,035 (GRCm39)	S236I	possibly damaging	Het
Or6c215	G	A	10: 129,637,689 (GRCm39)	A235V	probably damaging	Het
Or6c215	C	A	10: 129,637,690 (GRCm39)	A235S	probably damaging	Het
Parp9	A	G	16: 35,773,996 (GRCm39)	I90V	possibly damaging	Het
Pate7	A	T	9: 35,688,442 (GRCm39)	S48T	possibly damaging	Het
Pax2	T	A	19: 44,779,175 (GRCm39)	S183T	probably damaging	Het
Pcdha11	T	C	18: 37,144,509 (GRCm39)	L200P	probably damaging	Het
Pcdhb4	T	C	18: 37,441,482 (GRCm39)	V264A	possibly damaging	Het
Plch1	G	T	3: 63,606,279 (GRCm39)	N1199K	possibly damaging	Het
Ptpn22	A	G	3: 103,819,331 (GRCm39)	N795S	probably damaging	Het
Qars1	T	C	9: 108,385,297 (GRCm39)	S6P	probably benign	Het
Sema3a	T	C	5: 13,630,969 (GRCm39)	Y502H	probably damaging	Het
Sema4f	A	G	6: 82,914,085 (GRCm39)	I91T	probably damaging	Het
Setx	T	G	2: 29,030,302 (GRCm39)	I247S	probably damaging	Het
Slc9c1	T	C	16: 45,395,731 (GRCm39)	L594P	probably damaging	Het
Tnfrsf19	A	T	14: 61,208,588 (GRCm39)	M311K	probably benign	Het
Tubgcp4	T	C	2: 121,024,589 (GRCm39)	I588T	probably benign	Het
Tyro3	T	C	2: 119,643,304 (GRCm39)	V655A	probably damaging	Het
Uba7	T	A	9: 107,856,138 (GRCm39)	D504E	probably benign	Het
Vav3	C	T	3: 109,571,681 (GRCm39)	T201M	probably damaging	Het
Vldlr	A	G	19: 27,215,477 (GRCm39)	E117G	possibly damaging	Het
Vmn2r44	A	T	7: 8,381,005 (GRCm39)	I296K	probably damaging	Het
Vmn2r80	T	A	10: 79,017,837 (GRCm39)	C521S	probably damaging	Het
Wnk1	A	T	6: 119,949,958 (GRCm39)		probably benign	Het
Xpo1	T	C	11: 23,237,434 (GRCm39)	S766P	probably damaging	Het
Zcchc4	A	G	5: 52,953,486 (GRCm39)	N165S	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
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
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'- TTGGGAATGCTGCCCTCATC -3'
(R):5'- TGAGTCATGACACGGTGACC -3'

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

Posted On

2017-08-16