Mutagenetix > Incidental Mutation

Incidental Mutation 'R7766:Or52d1'

598242

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

045822-MU

Accession Numbers

Essential gene?

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

Stock #

R7766 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103754080-103758973 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 103756201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 238 (C238*)

Ref Sequence

ENSEMBL: ENSMUSP00000149102 (fasta)

Gene Model

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

AlphaFold

Q8VGW2

Predicted Effect

probably null
Transcript: ENSMUST00000098182
AA Change: C238*

SMART Domains

Protein: ENSMUSP00000095784
Gene: ENSMUSG00000073931
AA Change: C238*

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 null
Transcript: ENSMUST00000214099
AA Change: C238*

Coding Region Coverage

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

Validation Efficiency

100% (48/48)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,615,300 (GRCm39)	F58S	probably benign	Het
Abca2	T	A	2: 25,331,540 (GRCm39)	M1309K	probably benign	Het
Ascc1	A	T	10: 59,840,641 (GRCm39)	M1L	probably damaging	Het
Ccdc85b	A	T	19: 5,506,880 (GRCm39)	S182R	probably damaging	Het
Cnpy3	G	T	17: 47,048,161 (GRCm39)	Q185K	possibly damaging	Het
Cyp3a41a	A	G	5: 145,654,827 (GRCm39)	Y25H	probably damaging	Het
Dscam	A	T	16: 96,592,101 (GRCm39)	F725I	probably benign	Het
Duox1	T	C	2: 122,167,782 (GRCm39)	F1022L	probably benign	Het
Ednrb	A	G	14: 104,080,725 (GRCm39)	L63P	probably benign	Het
Egr4	C	T	6: 85,489,181 (GRCm39)	G293D	probably damaging	Het
Fv1	T	A	4: 147,953,727 (GRCm39)	F98I	possibly damaging	Het
Gfm2	C	T	13: 97,286,908 (GRCm39)	S169F	probably damaging	Het
Hexim2	C	G	11: 103,029,838 (GRCm39)	P297A	probably benign	Het
Hnrnpab	G	A	11: 51,492,293 (GRCm39)	T314I	unknown	Het
Ift88	T	C	14: 57,685,111 (GRCm39)	F309S	possibly damaging	Het
Ins2	T	A	7: 142,232,494 (GRCm39)	T97S	probably benign	Het
Itga2	T	C	13: 114,990,427 (GRCm39)	I905V	probably benign	Het
Itgb8	T	C	12: 119,127,094 (GRCm39)	Y720C	probably damaging	Het
Kank1	GCGAACG	GCG	19: 25,388,569 (GRCm39)		probably null	Het
Kcna6	T	A	6: 126,716,682 (GRCm39)	D69V	probably damaging	Het
Kcp	A	G	6: 29,496,846 (GRCm39)	C588R	probably damaging	Het
Lrrc17	A	T	5: 21,766,042 (GRCm39)	T175S	probably benign	Het
Morc2b	A	T	17: 33,357,397 (GRCm39)	M125K	probably benign	Het
Ms4a4b	A	C	19: 11,427,352 (GRCm39)	M24L	probably benign	Het
Myh13	A	C	11: 67,249,155 (GRCm39)	S1292R	probably benign	Het
Nat10	T	C	2: 103,556,052 (GRCm39)	D923G	probably benign	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Nipbl	T	C	15: 8,326,333 (GRCm39)	I2425M	probably benign	Het
Oasl1	G	T	5: 115,075,169 (GRCm39)	A410S	probably damaging	Het
Or5p80	C	T	7: 108,229,583 (GRCm39)	S128F	probably benign	Het
Or9g4b	T	A	2: 85,616,002 (GRCm39)	I49N	probably damaging	Het
Padi6	T	C	4: 140,458,286 (GRCm39)	K507E	probably benign	Het
Pdcl2	T	C	5: 76,465,743 (GRCm39)	N159S	probably benign	Het
Pla2g4a	T	C	1: 149,736,809 (GRCm39)	K445E	probably benign	Het
Plxnb2	A	G	15: 89,045,474 (GRCm39)	S1028P	probably benign	Het
Polb	T	C	8: 23,143,107 (GRCm39)	S30G	probably benign	Het
Pramel23	T	A	4: 143,425,809 (GRCm39)	I45F	probably damaging	Het
Slc17a6	A	T	7: 51,318,914 (GRCm39)	I519F	probably benign	Het
Tacc2	C	T	7: 130,345,328 (GRCm39)	H2582Y	probably damaging	Het
Tmem176a	A	T	6: 48,821,116 (GRCm39)		probably null	Het
Tnr	A	T	1: 159,715,880 (GRCm39)	T881S	probably benign	Het
Trp63	A	T	16: 25,686,969 (GRCm39)	R394S	probably damaging	Het
Tsga8	A	G	X: 82,530,704 (GRCm39)	L135P	unknown	Het
Ttn	T	C	2: 76,645,042 (GRCm39)	T12938A	probably damaging	Het
Ugt2b35	A	T	5: 87,149,061 (GRCm39)	D104V	possibly damaging	Het
Usp28	T	C	9: 48,947,183 (GRCm39)	S835P	probably damaging	Het
Vmn2r44	A	T	7: 8,371,219 (GRCm39)	V609E	probably damaging	Het
Zfp180	A	G	7: 23,804,084 (GRCm39)	S168G	probably benign	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
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'- CATTGCTAGGCTTGCCTGTG -3'
(R):5'- TCATACTAAGTCCTTCCCCAAGTG -3'

Sequencing Primer
(F):5'- GCTTGCCTGTGCCAATATTACTG -3'
(R):5'- AGTTTTAGAAGCCGACTCCG -3'

Posted On

2019-11-26