Mutagenetix > Incidental Mutation

Incidental Mutation 'R1581:Or1r1'

171422

Institutional Source

Beutler Lab

Gene Symbol

Or1r1

Ensembl Gene

ENSMUSG00000049041

Gene Name

olfactory receptor family 1 subfamily JRmember 1

Synonyms

GA_x6K02T2P1NL-4141430-4140486, Olfr398, MOR157-1

MMRRC Submission

039618-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

R1581 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73874488-73875432 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73875347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 29 (L29H)

Ref Sequence

ENSEMBL: ENSMUSP00000149170 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053874] [ENSMUST00000117510] [ENSMUST00000214334]

AlphaFold

Q8VFY0

Predicted Effect

probably damaging
Transcript: ENSMUST00000053874
AA Change: L29H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000059548
Gene: ENSMUSG00000049041
AA Change: L29H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	4e-50	PFAM
Pfam:7TM_GPCR_Srsx	35	305	3.5e-5	PFAM
Pfam:7tm_1	41	290	1.3e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000117510
AA Change: L29H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113005
Gene: ENSMUSG00000049041
AA Change: L29H

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	35	305	3.5e-5	PFAM
Pfam:7tm_1	41	290	6.4e-28	PFAM
Pfam:7tm_4	140	283	4.7e-35	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214334
AA Change: L29H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.2%
20x: 92.6%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	C	15: 91,063,347 (GRCm39)	E447G	probably benign	Het
Actn4	T	C	7: 28,598,071 (GRCm39)	T510A	probably benign	Het
Adgrb3	A	G	1: 25,133,153 (GRCm39)	M1311T	possibly damaging	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bicdl1	G	T	5: 115,789,326 (GRCm39)		probably benign	Het
Bmyc	T	C	2: 25,597,346 (GRCm39)	S137P	probably damaging	Het
Camsap3	C	T	8: 3,654,708 (GRCm39)	R782C	probably damaging	Het
Casc3	C	T	11: 98,713,644 (GRCm39)	T292I	possibly damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cibar1	T	A	4: 12,155,745 (GRCm39)		probably null	Het
Cnnm2	A	G	19: 46,751,562 (GRCm39)	T451A	probably damaging	Het
Eed	T	C	7: 89,629,676 (GRCm39)	K20E	possibly damaging	Het
Eps15	T	A	4: 109,220,383 (GRCm39)	M180K	probably benign	Het
Esr1	T	C	10: 4,947,905 (GRCm39)	I486T	probably damaging	Het
Etnppl	A	G	3: 130,422,393 (GRCm39)	I207V	possibly damaging	Het
Fancg	G	A	4: 43,007,039 (GRCm39)	P246L	probably damaging	Het
Fcrl1	G	A	3: 87,293,030 (GRCm39)	C249Y	possibly damaging	Het
Foxred2	A	G	15: 77,839,961 (GRCm39)	F110L	possibly damaging	Het
Fsip2	A	T	2: 82,816,626 (GRCm39)	N4120Y	probably damaging	Het
Gm4884	C	T	7: 40,693,255 (GRCm39)	S408L	probably benign	Het
Gm9476	T	C	10: 100,142,474 (GRCm39)		noncoding transcript	Het
Gria1	T	C	11: 57,127,836 (GRCm39)		probably null	Het
H6pd	T	A	4: 150,066,971 (GRCm39)	I472F	possibly damaging	Het
Hydin	A	T	8: 111,137,092 (GRCm39)	M632L	probably benign	Het
Hyou1	C	T	9: 44,300,167 (GRCm39)	P819S	probably damaging	Het
Il6st	A	G	13: 112,618,075 (GRCm39)	E163G	probably damaging	Het
Kcnk1	T	C	8: 126,722,278 (GRCm39)	V27A	possibly damaging	Het
Kdelr3	T	C	15: 79,407,114 (GRCm39)		probably null	Het
Klk1b22	A	G	7: 43,765,399 (GRCm39)	N117S	possibly damaging	Het
Klrh1	T	C	6: 129,752,796 (GRCm39)	D3G	probably benign	Het
Lpp	C	A	16: 24,500,591 (GRCm39)	C134*	probably null	Het
Lrrc37a	G	A	11: 103,347,843 (GRCm39)	R2951*	probably null	Het
Luzp2	T	A	7: 54,899,238 (GRCm39)	D285E	possibly damaging	Het
Ly75	C	T	2: 60,158,237 (GRCm39)	R1016H	probably damaging	Het
Mesp2	T	A	7: 79,462,289 (GRCm39)	S282T	possibly damaging	Het
Nav3	T	C	10: 109,659,289 (GRCm39)	D776G	probably damaging	Het
Nr2e1	T	C	10: 42,443,964 (GRCm39)	T253A	probably benign	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Padi6	T	C	4: 140,463,147 (GRCm39)	Y146C	probably damaging	Het
Pank4	C	T	4: 155,059,108 (GRCm39)	R414W	probably damaging	Het
Pclo	T	G	5: 14,571,296 (GRCm39)	I227S	probably benign	Het
Plppr4	A	G	3: 117,121,915 (GRCm39)	V221A	possibly damaging	Het
Pradc1	G	A	6: 85,425,568 (GRCm39)	R25C	probably damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Rnd2	A	G	11: 101,362,022 (GRCm39)	T192A	probably benign	Het
Rtbdn	A	G	8: 85,681,695 (GRCm39)	E131G	probably benign	Het
Ryr2	A	G	13: 11,809,449 (GRCm39)	V792A	probably benign	Het
Sacs	G	T	14: 61,451,128 (GRCm39)	Q4391H	probably damaging	Het
Scd2	A	G	19: 44,286,538 (GRCm39)	S123G	probably benign	Het
Septin9	A	G	11: 117,181,421 (GRCm39)	R74G	probably damaging	Het
Sipa1l2	T	A	8: 126,218,356 (GRCm39)	Q327L	probably damaging	Het
Skor1	T	C	9: 63,053,505 (GRCm39)	T127A	probably damaging	Het
Sphk2	A	G	7: 45,362,920 (GRCm39)	V57A	probably damaging	Het
Tfec	A	T	6: 16,844,243 (GRCm39)	D101E	probably damaging	Het
Tmem43	T	A	6: 91,455,717 (GRCm39)	H109Q	probably benign	Het
Tmem67	C	A	4: 12,047,814 (GRCm39)	S839I	probably damaging	Het
Trpv5	T	C	6: 41,630,074 (GRCm39)	Y672C	probably damaging	Het
Ttc39d	A	C	17: 80,523,913 (GRCm39)	S191R	probably benign	Het
Ttll1	C	T	15: 83,380,478 (GRCm39)	V296M	probably damaging	Het
Upp2	A	C	2: 58,664,177 (GRCm39)	K130T	possibly damaging	Het
Vmn2r5	A	G	3: 64,398,640 (GRCm39)	C780R	probably damaging	Het
Wars1	C	A	12: 108,841,635 (GRCm39)	E171*	probably null	Het
Zeb2	A	T	2: 44,887,012 (GRCm39)	S637T	probably damaging	Het
Zfp27	T	A	7: 29,595,549 (GRCm39)	T139S	possibly damaging	Het
Zfp941	A	T	7: 140,392,033 (GRCm39)	L442Q	probably benign	Het

Other mutations in Or1r1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01084:Or1r1	APN	11	73,875,353 (GRCm39)	missense	probably damaging	1.00
IGL01116:Or1r1	APN	11	73,875,144 (GRCm39)	missense	probably damaging	1.00
R0242:Or1r1	UTSW	11	73,874,538 (GRCm39)	missense	probably benign
R0242:Or1r1	UTSW	11	73,874,538 (GRCm39)	missense	probably benign
R0647:Or1r1	UTSW	11	73,874,597 (GRCm39)	missense	probably damaging	0.99
R0906:Or1r1	UTSW	11	73,874,685 (GRCm39)	missense	probably damaging	0.99
R1792:Or1r1	UTSW	11	73,874,673 (GRCm39)	missense	probably benign	0.34
R1832:Or1r1	UTSW	11	73,875,319 (GRCm39)	missense	probably damaging	0.98
R1879:Or1r1	UTSW	11	73,875,368 (GRCm39)	missense	probably benign	0.00
R2138:Or1r1	UTSW	11	73,875,129 (GRCm39)	missense	probably damaging	1.00
R2988:Or1r1	UTSW	11	73,874,627 (GRCm39)	missense	probably benign	0.13
R4557:Or1r1	UTSW	11	73,875,425 (GRCm39)	missense	probably benign	0.25
R4606:Or1r1	UTSW	11	73,874,718 (GRCm39)	missense	probably damaging	1.00
R4777:Or1r1	UTSW	11	73,875,221 (GRCm39)	missense	probably benign	0.01
R4783:Or1r1	UTSW	11	73,874,834 (GRCm39)	missense	probably damaging	0.97
R5047:Or1r1	UTSW	11	73,875,204 (GRCm39)	missense	probably damaging	1.00
R5696:Or1r1	UTSW	11	73,875,362 (GRCm39)	missense	possibly damaging	0.90
R6379:Or1r1	UTSW	11	73,875,099 (GRCm39)	missense	probably damaging	1.00
R7166:Or1r1	UTSW	11	73,875,121 (GRCm39)	missense	possibly damaging	0.81
R7254:Or1r1	UTSW	11	73,874,603 (GRCm39)	missense	probably benign	0.40
R7324:Or1r1	UTSW	11	73,874,669 (GRCm39)	missense	probably benign	0.06
R7444:Or1r1	UTSW	11	73,874,576 (GRCm39)	missense	probably damaging	1.00
R7831:Or1r1	UTSW	11	73,875,257 (GRCm39)	missense	probably damaging	1.00
R8540:Or1r1	UTSW	11	73,875,153 (GRCm39)	missense	probably damaging	1.00
X0012:Or1r1	UTSW	11	73,875,120 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATAGTGCAGCGGTCTACACACAGC -3'
(R):5'- TGGAAGTCCAGGAAATCTACTTGGGG -3'

Sequencing Primer
(F):5'- TCTCGGTGATACCCAGAGCTAC -3'
(R):5'- GCTGTGACCAACCTCACATA -3'

Posted On

2014-04-13