Mutagenetix > Incidental Mutation

Incidental Mutation 'R9178:Or52d1'

696819

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

068978-MU

Accession Numbers

Essential gene?

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

Stock #

R9178 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103754080-103758973 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103755720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 78 (M78T)

Ref Sequence

ENSEMBL: ENSMUSP00000149102 (fasta)

Gene Model

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

AlphaFold

Q8VGW2

Predicted Effect

probably benign
Transcript: ENSMUST00000098182
AA Change: M78T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000095784
Gene: ENSMUSG00000073931
AA Change: M78T

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 benign
Transcript: ENSMUST00000214099
AA Change: M78T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (74/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	A	9: 55,880,992 (GRCm39)	T146S	unknown	Het
Abca8b	A	T	11: 109,840,937 (GRCm39)	F1079I	probably benign	Het
Adcy10	A	T	1: 165,403,218 (GRCm39)	Q1572L	possibly damaging	Het
Akna	T	C	4: 63,312,846 (GRCm39)	T426A	possibly damaging	Het
Alkbh8	A	G	9: 3,338,448 (GRCm39)		probably benign	Het
Apc2	G	A	10: 80,150,235 (GRCm39)	G1763E	probably benign	Het
Bmp1	G	T	14: 70,727,613 (GRCm39)	R657S	possibly damaging	Het
Calm1	G	A	12: 100,171,979 (GRCm39)		probably null	Het
Ccdc150	C	A	1: 54,311,644 (GRCm39)	A210E	probably damaging	Het
Cdc42bpa	T	C	1: 179,958,401 (GRCm39)	I275T		Het
Cfap54	G	T	10: 92,830,579 (GRCm39)	Q1186K	probably benign	Het
Col6a6	A	G	9: 105,659,169 (GRCm39)	V592A	probably benign	Het
Colec11	A	T	12: 28,644,854 (GRCm39)	N213K	possibly damaging	Het
Dennd2b	C	T	7: 109,156,291 (GRCm39)	G153D	probably benign	Het
Dennd5b	G	A	6: 148,934,844 (GRCm39)	R676*	probably null	Het
Dnaaf5	T	G	5: 139,138,652 (GRCm39)	Y278D	probably damaging	Het
Dop1a	T	A	9: 86,371,796 (GRCm39)	Y162*	probably null	Het
Dync1li2	A	G	8: 105,150,255 (GRCm39)	L369P	possibly damaging	Het
Ebf1	A	G	11: 44,883,276 (GRCm39)	T505A	probably benign	Het
Ebf1	A	G	11: 44,895,548 (GRCm39)	I584M	probably benign	Het
Eif1ad17	A	G	12: 87,978,786 (GRCm39)	R57G	probably damaging	Het
Frmpd1	T	C	4: 45,285,367 (GRCm39)	L1396P	probably damaging	Het
Gart	A	T	16: 91,430,904 (GRCm39)	V386D	possibly damaging	Het
Gprin1	C	T	13: 54,885,601 (GRCm39)	R891H	probably damaging	Het
Gsap	G	A	5: 21,422,471 (GRCm39)	V147I	probably damaging	Het
Gsc	G	T	12: 104,439,120 (GRCm39)	Y85*	probably null	Het
Gtf2a1l	A	G	17: 88,976,152 (GRCm39)	N5S		Het
Hmcn2	T	C	2: 31,281,521 (GRCm39)	V1912A	possibly damaging	Het
Icos	G	T	1: 61,034,714 (GRCm39)	S179I	probably damaging	Het
Ifi209	T	C	1: 173,464,969 (GRCm39)	L33P	probably damaging	Het
Igsf10	A	G	3: 59,233,480 (GRCm39)	I1751T	possibly damaging	Het
Il31ra	T	C	13: 112,677,780 (GRCm39)	Y252C	probably damaging	Het
Ints6	A	T	14: 62,947,036 (GRCm39)	S310T	probably damaging	Het
Kcng1	A	T	2: 168,111,105 (GRCm39)	S20T	possibly damaging	Het
Klf15	T	C	6: 90,444,091 (GRCm39)	I222T	probably damaging	Het
Lmo7	A	T	14: 102,044,906 (GRCm39)	K53*	probably null	Het
Map10	C	A	8: 126,397,649 (GRCm39)	N347K	probably damaging	Het
Mrps11	C	A	7: 78,440,444 (GRCm39)	T111K	probably damaging	Het
Myom3	T	G	4: 135,506,710 (GRCm39)	D494E	probably benign	Het
Naalad2	T	A	9: 18,242,152 (GRCm39)	Y584F	probably damaging	Het
Ndufa9	A	G	6: 126,826,050 (GRCm39)	V9A	probably benign	Het
Nrcam	G	T	12: 44,615,329 (GRCm39)	V640F	possibly damaging	Het
Or10x4	C	T	1: 174,219,229 (GRCm39)	T198I	probably benign	Het
Or2t48	C	A	11: 58,420,473 (GRCm39)	G113V	probably damaging	Het
Or5ak23	G	A	2: 85,244,848 (GRCm39)	A125V	probably damaging	Het
Pcdhga8	T	A	18: 37,860,892 (GRCm39)	H649Q	probably benign	Het
Pdk1	C	A	2: 71,730,402 (GRCm39)	H413Q	probably benign	Het
Pfkm	T	A	15: 98,027,161 (GRCm39)	H611Q	probably damaging	Het
Polr3g	T	C	13: 81,842,535 (GRCm39)	Y160C	unknown	Het
Ppargc1b	A	T	18: 61,443,993 (GRCm39)	M406K	probably benign	Het
Ptf1a	C	T	2: 19,450,536 (GRCm39)		probably benign	Het
Rc3h2	A	T	2: 37,295,264 (GRCm39)	C251S	possibly damaging	Het
Rnf32	A	G	5: 29,411,211 (GRCm39)	T166A	possibly damaging	Het
Sav1	A	T	12: 70,022,790 (GRCm39)	V254E	probably damaging	Het
Sel1l	T	C	12: 91,797,526 (GRCm39)	N234D	probably benign	Het
Setd1a	C	T	7: 127,385,590 (GRCm39)	P766S	possibly damaging	Het
Skida1	T	A	2: 18,050,489 (GRCm39)	K801*	probably null	Het
Slc22a5	G	A	11: 53,774,547 (GRCm39)	T146I	probably benign	Het
Slc25a24	G	T	3: 109,064,268 (GRCm39)	A206S	possibly damaging	Het
Slc39a6	G	A	18: 24,733,970 (GRCm39)	R240W	probably damaging	Het
Ssc5d	T	A	7: 4,930,058 (GRCm39)	D46E	probably damaging	Het
Tekt4	C	T	17: 25,690,901 (GRCm39)	A69V	possibly damaging	Het
Tmigd1	T	A	11: 76,804,878 (GRCm39)	F239Y	probably benign	Het
Tpp1	T	A	7: 105,400,846 (GRCm39)	R60S	probably benign	Het
Trank1	A	T	9: 111,196,268 (GRCm39)	I1431F	probably damaging	Het
Trav15-1-dv6-1	G	T	14: 53,797,519 (GRCm39)	W56L	probably damaging	Het
Ugt2b38	A	G	5: 87,568,396 (GRCm39)	S300P	probably damaging	Het
Urah	T	A	7: 140,417,587 (GRCm39)	L119Q	unknown	Het
Uspl1	T	A	5: 149,141,148 (GRCm39)	F382L	probably damaging	Het
Vps9d1	T	A	8: 123,975,574 (GRCm39)	Q157L	probably damaging	Het
Wbp1l	G	A	19: 46,640,933 (GRCm39)	V88I	probably benign	Het
Zfp444	T	C	7: 6,191,157 (GRCm39)	S113P	probably damaging	Het
Zfp580	T	G	7: 5,056,152 (GRCm39)	S171A	possibly damaging	Het
Zfp607a	A	G	7: 27,577,382 (GRCm39)	I151V	probably benign	Het
Zfp827	T	C	8: 79,818,564 (GRCm39)	F614S	probably damaging	Het
Zic4	A	T	9: 91,260,913 (GRCm39)	Q56L	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
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

Predicted Primers

PCR Primer
(F):5'- ATGAGCGAAAGTCTCCCAGTC -3'
(R):5'- GGGGAGACAATAGCCACACTAC -3'

Sequencing Primer
(F):5'- GCGAAAGTCTCCCAGTCACTCTC -3'
(R):5'- CGGACTATCCCAGCAAAGATAATTTG -3'

Posted On

2022-02-07