Mutagenetix > Incidental Mutation

Incidental Mutation 'R4787:Or52u1'

367177

Institutional Source

Beutler Lab

Gene Symbol

Or52u1

Ensembl Gene

ENSMUSG00000073925

Gene Name

olfactory receptor family 52 subfamily U member 1

Synonyms

MOR38-2, Olfr654, GA_x6K02T2PBJ9-7215221-7216195

MMRRC Submission

041975-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R4787 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104236926-104238081 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104237167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 52 (M52T)

Ref Sequence

ENSEMBL: ENSMUSP00000149640 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098173] [ENSMUST00000210457] [ENSMUST00000213984] [ENSMUST00000215585] [ENSMUST00000217466]

AlphaFold

Q8VF27

Predicted Effect

probably benign
Transcript: ENSMUST00000098173
AA Change: M69T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095775
Gene: ENSMUSG00000073925
AA Change: M69T

Domain	Start	End	E-Value	Type
low complexity region	3	17	N/A	INTRINSIC
Pfam:7TM_GPCR_Srbc	43	176	2.5e-8	PFAM
Pfam:7tm_4	49	328	1.7e-103	PFAM
Pfam:7TM_GPCR_Srsx	53	325	1.6e-7	PFAM
Pfam:7tm_1	59	310	9.2e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000210457
AA Change: M52T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000213984
AA Change: M52T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000215585

Predicted Effect

probably benign
Transcript: ENSMUST00000217466

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

100% (72/72)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	C	A	8: 73,199,008 (GRCm39)	Y138*	probably null	Het
4933440M02Rik	T	C	7: 124,930,714 (GRCm39)		noncoding transcript	Het
Amy2b	T	C	3: 113,058,634 (GRCm39)		noncoding transcript	Het
Anxa1	T	A	19: 20,351,118 (GRCm39)	D334V	probably damaging	Het
Atoh8	T	C	6: 72,200,761 (GRCm39)	T310A	possibly damaging	Het
BC002059	G	A	17: 17,193,810 (GRCm39)		noncoding transcript	Het
Ccdc40	A	G	11: 119,144,447 (GRCm39)	D924G	possibly damaging	Het
Ccm2l	A	T	2: 152,921,422 (GRCm39)	M433L	probably benign	Het
Cd209e	T	C	8: 3,901,181 (GRCm39)	S158G	probably null	Het
Cdkn2a	C	T	4: 89,194,955 (GRCm39)	R153H	unknown	Het
Cfap69	A	G	5: 5,696,934 (GRCm39)		probably null	Het
Col6a5	T	C	9: 105,808,280 (GRCm39)	T923A	unknown	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Ddrgk1	A	G	2: 130,500,248 (GRCm39)	F216S	probably damaging	Het
Dysf	T	A	6: 84,180,310 (GRCm39)	C1995*	probably null	Het
Epb41l5	G	A	1: 119,523,725 (GRCm39)	P467S	probably benign	Het
Extl1	G	A	4: 134,091,978 (GRCm39)	L292F	probably damaging	Het
Fsd1	A	G	17: 56,303,257 (GRCm39)	N409D	possibly damaging	Het
Gm15455	A	T	1: 33,876,803 (GRCm39)		noncoding transcript	Het
Gm8894	A	G	14: 55,658,172 (GRCm39)		noncoding transcript	Het
Gtf3c2	C	T	5: 31,314,921 (GRCm39)	S942N	probably benign	Het
Gvin-ps3	T	C	7: 105,681,041 (GRCm39)		noncoding transcript	Het
H2-Ab1	A	T	17: 34,486,441 (GRCm39)	T167S	possibly damaging	Het
Ighv8-9	C	T	12: 115,432,134 (GRCm39)	R59H	probably damaging	Het
Igsf9b	G	A	9: 27,228,752 (GRCm39)	V171I	probably benign	Het
Il31ra	C	T	13: 112,664,079 (GRCm39)	E533K	possibly damaging	Het
Iqgap1	A	C	7: 80,385,261 (GRCm39)	L1022R	probably damaging	Het
Kcna4	T	C	2: 107,126,813 (GRCm39)	F516L	probably damaging	Het
Kmt2e	A	G	5: 23,668,081 (GRCm39)	T47A	possibly damaging	Het
L3mbtl2	A	G	15: 81,548,175 (GRCm39)		probably benign	Het
Ldhb-ps	C	A	19: 21,915,601 (GRCm39)		noncoding transcript	Het
Lipo3	T	A	19: 33,757,749 (GRCm39)	Q240L	probably benign	Het
Lpar5	A	G	6: 125,059,461 (GRCm39)		probably null	Het
Lrrk2	A	G	15: 91,597,031 (GRCm39)	D541G	probably benign	Het
Med9	T	A	11: 59,839,266 (GRCm39)	N58K	probably benign	Het
Meig1	A	G	2: 3,410,251 (GRCm39)	V83A	possibly damaging	Het
Natd1	A	C	11: 60,797,822 (GRCm39)	C34W	probably damaging	Het
Nup205	T	A	6: 35,178,996 (GRCm39)	C689S	probably damaging	Het
Or4c104	T	A	2: 88,586,219 (GRCm39)	K267*	probably null	Het
Or5d35	T	C	2: 87,855,204 (GRCm39)	M46T	possibly damaging	Het
Or6a2	G	A	7: 106,600,293 (GRCm39)	A258V	probably benign	Het
Pdgfrb	A	C	18: 61,212,759 (GRCm39)	S888R	probably damaging	Het
Plppr4	T	C	3: 117,115,979 (GRCm39)	E626G	probably damaging	Het
Ppfia3	C	A	7: 44,990,050 (GRCm39)	A1159S	possibly damaging	Het
Pramel32	T	A	4: 88,547,450 (GRCm39)	K74*	probably null	Het
Prex1	A	G	2: 166,480,260 (GRCm39)	V160A	probably benign	Het
Psmb7	C	T	2: 38,478,283 (GRCm39)	C247Y	probably benign	Het
Rbm33	C	T	5: 28,547,435 (GRCm39)		probably null	Het
Rfc5	T	C	5: 117,520,485 (GRCm39)	T236A	probably benign	Het
Sdk1	G	T	5: 141,568,168 (GRCm39)	R122L	probably benign	Het
Sh3bp1	T	C	15: 78,792,195 (GRCm39)	S451P	possibly damaging	Het
Smap1	G	T	1: 23,888,347 (GRCm39)		probably benign	Het
Smc2	T	A	4: 52,462,927 (GRCm39)	V639E	probably damaging	Het
Synpo2l	T	A	14: 20,711,765 (GRCm39)	Q511L	possibly damaging	Het
Taok2	G	A	7: 126,467,304 (GRCm39)	S167L	possibly damaging	Het
Tbc1d17	G	A	7: 44,492,488 (GRCm39)	P392S	probably benign	Het
Tef	T	A	15: 81,707,758 (GRCm39)	I261N	probably damaging	Het
Tmbim1	T	C	1: 74,334,519 (GRCm39)	N14D	possibly damaging	Het
Tmprss11c	T	C	5: 86,404,312 (GRCm39)	K121R	probably benign	Het
Trim36	C	A	18: 46,305,599 (GRCm39)	M461I	probably benign	Het
Trpc1	T	A	9: 95,603,468 (GRCm39)	M355L	probably benign	Het
Tspyl4	A	C	10: 34,173,760 (GRCm39)	D84A	probably benign	Het
Twf1	G	T	15: 94,482,315 (GRCm39)	P144T	probably damaging	Het
Ugt1a7c	T	C	1: 88,023,392 (GRCm39)	C184R	probably damaging	Het
Unc79	C	T	12: 103,013,257 (GRCm39)	P283S	probably damaging	Het
Usp45	T	C	4: 21,796,860 (GRCm39)	C49R	probably benign	Het
Wdr11	T	A	7: 129,210,658 (GRCm39)		probably benign	Het
Wdr27	A	T	17: 15,152,816 (GRCm39)	M97K	possibly damaging	Het

Other mutations in Or52u1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01481:Or52u1	APN	7	104,237,067 (GRCm39)	missense	probably damaging	1.00
IGL01677:Or52u1	APN	7	104,237,352 (GRCm39)	missense	probably damaging	0.97
IGL01807:Or52u1	APN	7	104,237,091 (GRCm39)	missense	probably damaging	1.00
IGL03113:Or52u1	APN	7	104,237,940 (GRCm39)	missense	probably benign	0.01
R0504:Or52u1	UTSW	7	104,237,682 (GRCm39)	nonsense	probably null
R0647:Or52u1	UTSW	7	104,237,322 (GRCm39)	missense	probably damaging	1.00
R0941:Or52u1	UTSW	7	104,237,545 (GRCm39)	missense	probably damaging	1.00
R0945:Or52u1	UTSW	7	104,237,879 (GRCm39)	missense	probably damaging	1.00
R1423:Or52u1	UTSW	7	104,237,682 (GRCm39)	nonsense	probably null
R1860:Or52u1	UTSW	7	104,237,112 (GRCm39)	missense	probably damaging	0.98
R2872:Or52u1	UTSW	7	104,237,700 (GRCm39)	missense	possibly damaging	0.87
R2872:Or52u1	UTSW	7	104,237,700 (GRCm39)	missense	possibly damaging	0.87
R4082:Or52u1	UTSW	7	104,237,830 (GRCm39)	missense	probably damaging	1.00
R4760:Or52u1	UTSW	7	104,237,696 (GRCm39)	missense	probably benign	0.32
R4969:Or52u1	UTSW	7	104,237,730 (GRCm39)	missense	probably damaging	1.00
R5186:Or52u1	UTSW	7	104,237,418 (GRCm39)	missense	probably damaging	1.00
R5706:Or52u1	UTSW	7	104,237,097 (GRCm39)	missense	probably benign	0.02
R6582:Or52u1	UTSW	7	104,237,218 (GRCm39)	missense	probably damaging	1.00
R7076:Or52u1	UTSW	7	104,237,430 (GRCm39)	missense	probably damaging	1.00
R7155:Or52u1	UTSW	7	104,237,764 (GRCm39)	missense	possibly damaging	0.88
R7424:Or52u1	UTSW	7	104,237,907 (GRCm39)	missense	probably damaging	1.00
R7559:Or52u1	UTSW	7	104,237,087 (GRCm39)	missense	probably damaging	1.00
R7722:Or52u1	UTSW	7	104,237,505 (GRCm39)	missense	possibly damaging	0.77
Z1177:Or52u1	UTSW	7	104,237,211 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTTACCAGGGTCCACCATG -3'
(R):5'- CAAGGGCTTACAGATAGCCAC -3'

Sequencing Primer
(F):5'- AGGGTCCACCATGATGCCTTG -3'
(R):5'- GGTCAAAGGCCATGGTCATC -3'

Posted On

2015-12-29