Mutagenetix > Incidental Mutation

Incidental Mutation 'R8701:Or51r1'

669070

Institutional Source

Beutler Lab

Gene Symbol

Or51r1

Ensembl Gene

ENSMUSG00000073975

Gene Name

olfactory receptor family 51 subfamily R member 1

Synonyms

GA_x6K02T2PBJ9-5297243-5298193, Olfr550, MOR16-1

MMRRC Submission

068555-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R8701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102220638-102228869 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102227899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 66 (M66L)

Ref Sequence

ENSEMBL: ENSMUSP00000149536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098225] [ENSMUST00000213540] [ENSMUST00000216524]

AlphaFold

E9Q544

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098225
AA Change: M66L

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000095828
Gene: ENSMUSG00000073975
AA Change: M66L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	311	6.2e-102	PFAM
Pfam:7TM_GPCR_Srsx	36	156	1.8e-10	PFAM
Pfam:7tm_1	42	293	4.6e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213540

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216524
AA Change: M66L

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,836,785 (GRCm39)	I659V	probably benign	Het
Adamtsl4	T	A	3: 95,592,276 (GRCm39)	D24V	possibly damaging	Het
Agtr1b	A	T	3: 20,370,256 (GRCm39)	F117I	probably damaging	Het
Aldh3b2	A	G	19: 4,028,448 (GRCm39)	E116G	probably damaging	Het
Alox5	T	A	6: 116,390,787 (GRCm39)	I455F	possibly damaging	Het
Arnt	C	T	3: 95,401,076 (GRCm39)	S675F	possibly damaging	Het
Camkv	A	G	9: 107,825,240 (GRCm39)	T414A	possibly damaging	Het
Ccn5	G	T	2: 163,670,786 (GRCm39)	G98W	probably damaging	Het
Cd209c	C	T	8: 3,995,892 (GRCm39)	R6H	probably benign	Het
Cip2a	T	A	16: 48,827,504 (GRCm39)	Y456*	probably null	Het
Cnr1	A	G	4: 33,944,739 (GRCm39)	I376V	probably benign	Het
Cyp2j12	T	A	4: 96,009,810 (GRCm39)	K183M	possibly damaging	Het
Dact3	G	T	7: 16,619,201 (GRCm39)	R232L	probably damaging	Het
Dlg5	G	A	14: 24,226,768 (GRCm39)	T378M	probably benign	Het
Dnah10	T	A	5: 124,803,911 (GRCm39)	D79E	probably benign	Het
Dsc1	A	T	18: 20,240,739 (GRCm39)	Y195*	probably null	Het
Elovl1	A	T	4: 118,287,707 (GRCm39)	M1L	probably benign	Het
Fam107a	A	G	14: 8,298,755 (GRCm38)	F124L	probably damaging	Het
Fam219a	A	G	4: 41,520,283 (GRCm39)	M155T	probably damaging	Het
Gm28308	C	G	6: 52,140,430 (GRCm39)		probably benign	Het
Gpr153	C	T	4: 152,363,558 (GRCm39)		probably benign	Het
Gtf2ird2	T	A	5: 134,245,077 (GRCm39)	I445N	probably damaging	Het
Gzmb	A	T	14: 56,497,817 (GRCm39)	V141E	probably benign	Het
Hmcn1	A	T	1: 150,631,008 (GRCm39)	M930K	probably benign	Het
Hunk	T	A	16: 90,183,498 (GRCm39)	F52Y	probably damaging	Het
Il18rap	A	G	1: 40,578,501 (GRCm39)	E304G	probably benign	Het
Klk14	A	G	7: 43,343,566 (GRCm39)	S133G	possibly damaging	Het
Man2b1	T	C	8: 85,821,782 (GRCm39)	S695P	probably damaging	Het
Mccc1	A	T	3: 36,049,933 (GRCm39)	D86E	probably benign	Het
Mcu	T	A	10: 59,303,475 (GRCm39)	I121F	probably damaging	Het
Mlxipl	T	C	5: 135,136,045 (GRCm39)	F90S	possibly damaging	Het
Muc2	A	G	7: 141,281,850 (GRCm39)	D536G	probably damaging	Het
Naa11	T	C	5: 97,539,817 (GRCm39)	S114G	possibly damaging	Het
Ncaph	T	C	2: 126,948,058 (GRCm39)	K676E	probably benign	Het
Neurl2	C	T	2: 164,675,054 (GRCm39)	D103N	probably benign	Het
Nup210l	T	C	3: 90,030,121 (GRCm39)	M278T	probably benign	Het
Or10g6	A	G	9: 39,933,815 (GRCm39)	N42S	probably damaging	Het
Or4p4	A	G	2: 88,482,831 (GRCm39)	I112V	possibly damaging	Het
Or8c19-ps1	A	T	9: 38,220,734 (GRCm39)	L214F	unknown	Het
Or8g4	A	T	9: 39,662,210 (GRCm39)	H176L	probably damaging	Het
Pcdh20	A	T	14: 88,705,849 (GRCm39)	Y484N	possibly damaging	Het
Pkhd1l1	A	G	15: 44,438,079 (GRCm39)	Y3598C	probably damaging	Het
Plcg2	T	A	8: 118,308,416 (GRCm39)	L336Q	probably damaging	Het
Ppp1r8	T	C	4: 132,557,953 (GRCm39)	D207G	possibly damaging	Het
Prdm13	C	T	4: 21,678,615 (GRCm39)	C625Y	probably damaging	Het
Ptcd3	T	C	6: 71,862,495 (GRCm39)	D480G	possibly damaging	Het
Rbm39	T	A	2: 156,003,507 (GRCm39)	K291M	probably damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rnf220	T	C	4: 117,347,190 (GRCm39)	H74R	probably damaging	Het
Sp6	A	T	11: 96,913,090 (GRCm39)	T268S	probably damaging	Het
Spata31e2	A	T	1: 26,724,526 (GRCm39)	V218D	probably benign	Het
Sphk2	A	T	7: 45,360,249 (GRCm39)	V585E	probably damaging	Het
Syne1	G	A	10: 5,155,026 (GRCm39)	Q5638*	probably null	Het
Tas1r3	C	T	4: 155,945,503 (GRCm39)	V573I	probably benign	Het
Tdrd1	T	C	19: 56,839,916 (GRCm39)	S659P	possibly damaging	Het
Tead4	T	A	6: 128,219,529 (GRCm39)	K237N	probably damaging	Het
Tex24	T	A	8: 27,835,152 (GRCm39)	C227S	probably benign	Het
Tom1	A	T	8: 75,778,796 (GRCm39)	T174S	probably benign	Het
Tpm3	C	T	3: 89,994,987 (GRCm39)	R168C	possibly damaging	Het
Trpv3	A	G	11: 73,169,762 (GRCm39)	E111G	possibly damaging	Het
Unc80	A	G	1: 66,677,191 (GRCm39)	D2040G	possibly damaging	Het
Usp47	A	G	7: 111,692,402 (GRCm39)	T955A	probably damaging	Het
Vmn2r11	G	A	5: 109,195,556 (GRCm39)	A590V	probably damaging	Het
Zfp112	A	G	7: 23,825,165 (GRCm39)	R382G	probably damaging	Het
Zfp606	T	A	7: 12,215,025 (GRCm39)	D84E	unknown	Het

Other mutations in Or51r1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01946:Or51r1	APN	7	102,227,734 (GRCm39)	splice site	probably null
IGL02605:Or51r1	APN	7	102,228,602 (GRCm39)	missense	probably damaging	1.00
IGL03365:Or51r1	APN	7	102,227,836 (GRCm39)	missense	probably benign
R0180:Or51r1	UTSW	7	102,228,239 (GRCm39)	missense	probably damaging	1.00
R3854:Or51r1	UTSW	7	102,228,227 (GRCm39)	missense	probably damaging	1.00
R5337:Or51r1	UTSW	7	102,228,481 (GRCm39)	missense	probably damaging	1.00
R5606:Or51r1	UTSW	7	102,228,481 (GRCm39)	missense	probably damaging	1.00
R5646:Or51r1	UTSW	7	102,228,512 (GRCm39)	missense	possibly damaging	0.84
R6009:Or51r1	UTSW	7	102,227,801 (GRCm39)	missense	possibly damaging	0.86
R6751:Or51r1	UTSW	7	102,227,706 (GRCm39)	start codon destroyed	probably null
R7767:Or51r1	UTSW	7	102,220,971 (GRCm39)	start gained	probably benign
R9074:Or51r1	UTSW	7	102,228,433 (GRCm39)	missense	probably damaging	0.99
R9101:Or51r1	UTSW	7	102,228,137 (GRCm39)	missense	probably benign	0.22
R9151:Or51r1	UTSW	7	102,228,500 (GRCm39)	missense	probably damaging	1.00
R9745:Or51r1	UTSW	7	102,227,861 (GRCm39)	missense	probably damaging	0.98
X0067:Or51r1	UTSW	7	102,227,707 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGTTCTGCAATACCAGCACTC -3'
(R):5'- GCATAATGCAGAGGATCCCG -3'

Sequencing Primer
(F):5'- AGCACTCCTGGTCACTCCAC -3'
(R):5'- TCCCGGATGGCAATGAAGC -3'

Posted On

2021-04-30