Mutagenetix > Incidental Mutation

Incidental Mutation 'R7424:Or52u1'

575922

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

045502-MU

Accession Numbers

Essential gene?

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

Stock #

R7424 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104236926-104238081 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 104237907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glutamine at position 299 (E299Q)

Ref Sequence

ENSEMBL: ENSMUSP00000149640 (fasta)

Gene Model

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

AlphaFold

Q8VF27

Predicted Effect

probably damaging
Transcript: ENSMUST00000098173
AA Change: E316Q

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

SMART Domains

Protein: ENSMUSP00000095775
Gene: ENSMUSG00000073925
AA Change: E316Q

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 damaging
Transcript: ENSMUST00000210457
AA Change: E299Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000213984
AA Change: E299Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000215585

Predicted Effect

probably benign
Transcript: ENSMUST00000217466

Coding Region Coverage

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

Validation Efficiency

99% (76/77)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	C	T	8: 120,872,284 (GRCm39)	R71C	probably damaging	Het
Aanat	A	T	11: 116,486,455 (GRCm39)		probably benign	Het
Ahrr	G	T	13: 74,405,664 (GRCm39)	S91*	probably null	Het
Ampd1	A	T	3: 102,995,758 (GRCm39)	N223Y	probably benign	Het
Ankar	T	G	1: 72,719,217 (GRCm39)	N544T	probably damaging	Het
Ankk1	A	G	9: 49,330,050 (GRCm39)	S302P	possibly damaging	Het
Bcr	T	C	10: 74,992,932 (GRCm39)	V809A	probably benign	Het
Bpifb2	A	G	2: 153,732,460 (GRCm39)	N353S	possibly damaging	Het
Cyth1	A	T	11: 118,074,835 (GRCm39)		probably null	Het
Ddx5	A	T	11: 106,673,006 (GRCm39)	N506K	probably benign	Het
Dnaja1	A	T	4: 40,730,244 (GRCm39)	I239F	probably benign	Het
Ethe1	C	T	7: 24,305,676 (GRCm39)	T141I	probably damaging	Het
Fhip2b	T	C	14: 70,831,447 (GRCm39)	H29R	probably damaging	Het
Gdap2	A	T	3: 100,109,382 (GRCm39)	I36F	unknown	Het
Gm13030	A	T	4: 138,598,577 (GRCm39)	D115E	unknown	Het
Gm17019	A	T	5: 15,079,386 (GRCm39)	L227Q	probably damaging	Het
Gm9195	T	A	14: 72,673,217 (GRCm39)	E2517D	possibly damaging	Het
Gramd2a	T	A	9: 59,615,354 (GRCm39)	V39D	possibly damaging	Het
Hmcn1	C	T	1: 150,506,017 (GRCm39)	W3836*	probably null	Het
Hspa14	C	T	2: 3,490,078 (GRCm39)	D494N	possibly damaging	Het
Ifit2	A	G	19: 34,550,598 (GRCm39)	N46S	probably benign	Het
Ifna6	A	T	4: 88,746,044 (GRCm39)	E131V	possibly damaging	Het
Ift140	T	C	17: 25,256,010 (GRCm39)	V504A	possibly damaging	Het
Irgc	T	C	7: 24,131,653 (GRCm39)	N388S	probably damaging	Het
Itgal	T	A	7: 126,916,537 (GRCm39)	V743E	probably benign	Het
Itih5	T	C	2: 10,250,448 (GRCm39)	S716P	probably damaging	Het
Kcnab1	A	T	3: 65,173,924 (GRCm39)	K78N	possibly damaging	Het
Kif1a	A	T	1: 92,982,039 (GRCm39)	V787E	possibly damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Krt39	A	T	11: 99,408,917 (GRCm39)	V293E	probably damaging	Het
Lrrn4	A	G	2: 132,711,663 (GRCm39)	F720S	possibly damaging	Het
Map2	G	A	1: 66,453,983 (GRCm39)	A958T	possibly damaging	Het
Map3k9	A	G	12: 81,770,871 (GRCm39)	S906P	probably benign	Het
Mdc1	T	C	17: 36,164,201 (GRCm39)	S1250P	probably benign	Het
Meltf	G	A	16: 31,703,764 (GRCm39)	V164I	probably damaging	Het
Mtap	T	G	4: 89,097,699 (GRCm39)		probably null	Het
Mtus1	C	A	8: 41,475,443 (GRCm39)	V184F	probably damaging	Het
Myh1	A	T	11: 67,104,489 (GRCm39)	D1015V	probably damaging	Het
Ndrg1	T	C	15: 66,816,787 (GRCm39)		probably null	Het
Nkd1	G	T	8: 89,311,803 (GRCm39)	V130L	probably benign	Het
Nsfl1c	A	G	2: 151,342,673 (GRCm39)	D81G	probably benign	Het
Nt5c1b	T	A	12: 10,431,391 (GRCm39)		probably null	Het
Nucb1	T	C	7: 45,148,202 (GRCm39)	K204E	possibly damaging	Het
Nwd1	T	G	8: 73,401,801 (GRCm39)	M774R	possibly damaging	Het
Or2m13	A	T	16: 19,225,944 (GRCm39)	V274E	probably damaging	Het
Or5an1c	A	T	19: 12,218,318 (GRCm39)	S236T	possibly damaging	Het
Pan3	T	A	5: 147,473,082 (GRCm39)		probably null	Het
Pcdh15	A	T	10: 74,342,317 (GRCm39)	T1135S	probably benign	Het
Pfas	A	G	11: 68,890,918 (GRCm39)	I331T	probably damaging	Het
Plxna2	T	A	1: 194,488,647 (GRCm39)	I1641N	probably damaging	Het
Pramel27	C	T	4: 143,579,779 (GRCm39)	P455S	probably benign	Het
Ptar1	A	T	19: 23,695,465 (GRCm39)	R311W	probably damaging	Het
Ranbp2	T	G	10: 58,315,016 (GRCm39)	M1912R	probably damaging	Het
Rbm12	A	G	2: 155,939,223 (GRCm39)	F350L	possibly damaging	Het
Sdhaf1	T	C	7: 30,021,468 (GRCm39)	D96G	probably benign	Het
Serpinb6b	T	A	13: 33,152,650 (GRCm39)	M53K	probably damaging	Het
Sh2d6	A	T	6: 72,494,147 (GRCm39)	L147Q	probably benign	Het
Slc19a2	T	A	1: 164,088,445 (GRCm39)	C298S	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
St8sia2	T	A	7: 73,610,650 (GRCm39)	Q211L	possibly damaging	Het
Sult2a2	T	C	7: 13,468,822 (GRCm39)	I96T	possibly damaging	Het
Tab2	G	T	10: 7,783,247 (GRCm39)	H678Q	probably damaging	Het
Tnfaip6	A	G	2: 51,928,228 (GRCm39)	E14G	probably benign	Het
Trip11	A	T	12: 101,851,457 (GRCm39)	L869H	probably damaging	Het
Tslp	T	C	18: 32,952,133 (GRCm39)	Y133H	not run	Het
Ttn	T	C	2: 76,571,334 (GRCm39)	I26520V	probably damaging	Het
Ttn	A	G	2: 76,762,487 (GRCm39)	V3374A	unknown	Het
Tubgcp2	T	A	7: 139,587,837 (GRCm39)	I263F	possibly damaging	Het
Uaca	A	G	9: 60,777,392 (GRCm39)	E593G	probably damaging	Het
Unc13b	C	T	4: 43,172,235 (GRCm39)	T1021I	unknown	Het
Ush1c	T	A	7: 45,874,979 (GRCm39)	I131F	probably benign	Het
Usp24	C	A	4: 106,236,304 (GRCm39)	D997E	probably benign	Het
Usp54	T	C	14: 20,627,108 (GRCm39)	T517A	probably benign	Het
Vmn1r151	A	T	7: 22,198,505 (GRCm39)	M200K	possibly damaging	Het
Vmn2r43	T	C	7: 8,258,328 (GRCm39)	D295G	probably damaging	Het
Vmn2r70	G	A	7: 85,213,076 (GRCm39)	P444S	probably damaging	Het
Vmn2r85	G	T	10: 130,254,849 (GRCm39)	P612T	probably damaging	Het
Vps13d	A	T	4: 144,875,317 (GRCm39)	V1736D		Het
Zbtb11	A	T	16: 55,810,850 (GRCm39)	H336L	probably benign	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
R4787:Or52u1	UTSW	7	104,237,167 (GRCm39)	missense	probably benign
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
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'- ACGAGCTATCATGCATCTCTC -3'
(R):5'- CATGGCTGCTAATCTGACATTTC -3'

Sequencing Primer
(F):5'- GAGCTATCATGCATCTCTCTTCCAAG -3'
(R):5'- TCCCCTAGACACTTACCAT -3'

Posted On

2019-10-07