Mutagenetix > Incidental Mutation

Incidental Mutation 'R0647:Or1r1'

57281

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

038832-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R0647 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73874488-73875432 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73874597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 279 (A279V)

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: A279V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000059548
Gene: ENSMUSG00000049041
AA Change: A279V

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: A279V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113005
Gene: ENSMUSG00000049041
AA Change: A279V

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: A279V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	C	A	11: 50,494,265 (GRCm39)	T113K	probably damaging	Het
Adgre1	T	A	17: 57,718,003 (GRCm39)	N338K	probably damaging	Het
Aggf1	A	T	13: 95,508,164 (GRCm39)		probably null	Het
Apc2	A	T	10: 80,140,762 (GRCm39)	I206F	probably damaging	Het
Carmil3	T	C	14: 55,739,892 (GRCm39)		probably null	Het
Ccdc110	A	C	8: 46,396,425 (GRCm39)	E772A	probably damaging	Het
Cdh23	A	G	10: 60,143,681 (GRCm39)	F2977L	probably damaging	Het
Cdh23	A	T	10: 60,159,153 (GRCm39)	Y2207*	probably null	Het
Cfap20dc	T	A	14: 8,536,655 (GRCm38)	D184V	possibly damaging	Het
Chd4	T	A	6: 125,086,086 (GRCm39)	N908K	probably damaging	Het
Chst9	A	G	18: 15,585,726 (GRCm39)	I279T	probably damaging	Het
Ctnna3	A	T	10: 63,656,203 (GRCm39)	N261I	probably benign	Het
Dlgap2	A	T	8: 14,777,591 (GRCm39)	S279C	possibly damaging	Het
Dock4	G	A	12: 40,760,883 (GRCm39)	E524K	probably damaging	Het
Fabp12	T	A	3: 10,311,096 (GRCm39)	N122I	possibly damaging	Het
Fam184b	T	C	5: 45,741,932 (GRCm39)	T100A	probably benign	Het
Fbxl5	T	C	5: 43,925,411 (GRCm39)	D176G	probably damaging	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Foxe1	A	G	4: 46,344,477 (GRCm39)	N95S	possibly damaging	Het
Frem3	A	G	8: 81,341,814 (GRCm39)	E1369G	probably damaging	Het
Frmpd4	C	T	X: 166,272,006 (GRCm39)	E483K	probably damaging	Het
Gbp11	T	C	5: 105,478,830 (GRCm39)	K203E	possibly damaging	Het
Hs3st6	C	T	17: 24,977,134 (GRCm39)	R205C	probably damaging	Het
Ifitm10	C	T	7: 141,909,772 (GRCm39)	S179N	probably damaging	Het
Irx2	A	C	13: 72,778,799 (GRCm39)	N121T	probably damaging	Het
Itih1	A	T	14: 30,657,820 (GRCm39)	V417E	probably damaging	Het
Itpr1	A	C	6: 108,360,659 (GRCm39)	E695A	probably damaging	Het
Kif1c	T	A	11: 70,616,967 (GRCm39)	I755K	probably damaging	Het
Lamb3	A	G	1: 193,013,104 (GRCm39)	E443G	probably damaging	Het
Lrp1	G	C	10: 127,407,346 (GRCm39)	T1865R	probably damaging	Het
Lrrc8b	T	A	5: 105,628,473 (GRCm39)	I273K	possibly damaging	Het
Ly9	T	C	1: 171,427,376 (GRCm39)	Y393C	probably damaging	Het
Mphosph8	T	C	14: 56,911,862 (GRCm39)	V295A	probably benign	Het
Nlrp5	T	A	7: 23,117,132 (GRCm39)	D269E	probably damaging	Het
Or2t6	T	G	14: 14,175,858 (GRCm38)	T75P	probably benign	Het
Or4k44	A	G	2: 111,367,704 (GRCm39)	V310A	probably benign	Het
Or52u1	T	G	7: 104,237,322 (GRCm39)	F104V	probably damaging	Het
Or5p50	T	A	7: 107,422,218 (GRCm39)	I153F	probably benign	Het
Otud3	A	G	4: 138,640,948 (GRCm39)	L64P	probably damaging	Het
Pcdh17	A	T	14: 84,685,213 (GRCm39)	H560L	possibly damaging	Het
Pcdhb21	T	C	18: 37,646,913 (GRCm39)	V14A	probably damaging	Het
Prss3l	A	T	6: 41,420,275 (GRCm39)	F150L	probably benign	Het
Rbfox1	A	T	16: 7,042,248 (GRCm39)	Q14L	probably damaging	Het
Rbm44	A	G	1: 91,084,650 (GRCm39)	D665G	probably benign	Het
Rc3h2	C	T	2: 37,299,542 (GRCm39)	V163M	probably damaging	Het
Sash1	T	A	10: 8,605,316 (GRCm39)	R1025W	probably damaging	Het
Sgpl1	A	G	10: 60,949,267 (GRCm39)	S146P	probably damaging	Het
Slc27a2	G	A	2: 126,429,836 (GRCm39)	D615N	probably benign	Het
Smap1	A	G	1: 23,892,559 (GRCm39)	I135T	probably damaging	Het
Snapc3	A	G	4: 83,368,466 (GRCm39)	D321G	probably damaging	Het
St6galnac4	C	T	2: 32,479,460 (GRCm39)	R6C	probably damaging	Het
Syne2	C	T	12: 75,934,977 (GRCm39)	P153L	probably benign	Het
Tiprl	A	G	1: 165,050,092 (GRCm39)		probably null	Het
Tmem94	A	G	11: 115,687,621 (GRCm39)	N1160S	probably damaging	Het
Trim65	G	A	11: 116,019,036 (GRCm39)	R168C	possibly damaging	Het
Txndc16	A	T	14: 45,406,732 (GRCm39)	I241N	probably damaging	Het
Txndc16	T	A	14: 45,402,818 (GRCm39)	R101*	probably null	Het
Ugt2b38	A	G	5: 87,571,328 (GRCm39)	S235P	probably benign	Het
Ugt3a1	A	T	15: 9,310,635 (GRCm39)	M306L	probably benign	Het
Vmn1r23	T	A	6: 57,903,169 (GRCm39)	Y203F	probably benign	Het
Vmn2r3	T	A	3: 64,183,046 (GRCm39)	I218F	probably damaging	Het
Wdfy4	A	G	14: 32,831,656 (GRCm39)	C857R	possibly damaging	Het
Zfp493	A	C	13: 67,931,994 (GRCm39)	K31T	possibly damaging	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
R0906:Or1r1	UTSW	11	73,874,685 (GRCm39)	missense	probably damaging	0.99
R1581:Or1r1	UTSW	11	73,875,347 (GRCm39)	missense	probably damaging	1.00
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'- GTTGGTACTCTTCTTGACATGCCAGTT -3'
(R):5'- GCGCCACTTCTTTTGTGACATGACT -3'

Sequencing Primer
(F):5'- TCTTGACATGCCAGTTAACCCAG -3'
(R):5'- CATCTTCTCAGAGGGGCTAACAG -3'

Posted On

2013-07-11