Mutagenetix > Incidental Mutation

Incidental Mutation 'R7166:Or1r1'

557947

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

045227-MU

Accession Numbers

Essential gene?

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

Stock #

R7166 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73874488-73875432 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73875121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 104 (F104L)

Ref Sequence

ENSEMBL: ENSMUSP00000113005 (fasta)

Gene Model

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

AlphaFold

Q8VFY0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053874
AA Change: F104L

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000059548
Gene: ENSMUSG00000049041
AA Change: F104L

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

possibly damaging
Transcript: ENSMUST00000117510
AA Change: F104L

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113005
Gene: ENSMUSG00000049041
AA Change: F104L

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

possibly damaging
Transcript: ENSMUST00000214334
AA Change: F104L

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (52/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambn	T	C	5: 88,615,387 (GRCm39)	L272P	possibly damaging	Het
Ash2l	C	A	8: 26,317,348 (GRCm39)	G335V	probably damaging	Het
Atp13a1	T	A	8: 70,251,966 (GRCm39)		probably null	Het
Atp13a2	G	A	4: 140,734,295 (GRCm39)	R1139Q	possibly damaging	Het
Atxn2	T	A	5: 121,934,460 (GRCm39)	N886K	possibly damaging	Het
Celsr3	G	T	9: 108,720,150 (GRCm39)	C2512F	probably damaging	Het
Cfap221	A	G	1: 119,875,843 (GRCm39)	V449A	probably benign	Het
Cfhr2	A	T	1: 139,758,839 (GRCm39)	C70*	probably null	Het
Chfr	C	A	5: 110,306,671 (GRCm39)	P472Q	probably benign	Het
Crybg2	G	A	4: 133,788,193 (GRCm39)	R22Q	probably damaging	Het
Eef2k	T	C	7: 120,483,995 (GRCm39)	F244L	probably damaging	Het
Efcab11	A	T	12: 99,849,614 (GRCm39)	M23K		Het
Eif4a3l2	A	G	6: 116,528,329 (GRCm39)	I69V	probably benign	Het
Ercc8	T	A	13: 108,305,967 (GRCm39)	M114K	possibly damaging	Het
Fam217a	T	C	13: 35,094,298 (GRCm39)	Y487C	probably benign	Het
Farsb	T	C	1: 78,447,821 (GRCm39)	N205S	probably benign	Het
Glra1	A	G	11: 55,405,904 (GRCm39)	F370S	probably benign	Het
Gm12258	T	A	11: 58,749,299 (GRCm39)	M158K		Het
Gm14305	T	A	2: 176,412,736 (GRCm39)	H209Q	probably damaging	Het
Gm4924	A	T	10: 82,214,035 (GRCm39)	Q611L	unknown	Het
H4c11	A	G	13: 21,919,321 (GRCm39)	H19R	unknown	Het
Haus6	T	C	4: 86,501,924 (GRCm39)	E649G	possibly damaging	Het
Hlcs	C	T	16: 94,063,585 (GRCm39)	D345N	possibly damaging	Het
Htt	C	A	5: 35,010,238 (GRCm39)	Q1564K	probably benign	Het
Itpr1	G	A	6: 108,355,151 (GRCm39)	V481I	probably benign	Het
Jak3	T	C	8: 72,134,960 (GRCm39)	I531T	probably damaging	Het
Kng1	T	A	16: 22,898,428 (GRCm39)	H609Q	probably benign	Het
Mdn1	T	A	4: 32,746,446 (GRCm39)	S4131T	probably damaging	Het
Npnt	A	G	3: 132,653,889 (GRCm39)	S31P	probably damaging	Het
Or4c100	A	T	2: 88,355,990 (GRCm39)	Q21L	possibly damaging	Het
Or8h8	T	A	2: 86,753,092 (GRCm39)	K261N	probably damaging	Het
Paxx	A	T	2: 25,350,238 (GRCm39)	L123Q	probably damaging	Het
Prdm13	C	T	4: 21,683,528 (GRCm39)	R144Q	unknown	Het
Rab2b	C	A	14: 52,516,802 (GRCm39)		probably benign	Het
Rnf207	A	G	4: 152,396,237 (GRCm39)	I509T	probably damaging	Het
Ropn1l	T	C	15: 31,453,655 (GRCm39)	Q12R		Het
Ryr3	T	G	2: 112,705,373 (GRCm39)	Y847S	probably damaging	Het
Slc1a6	A	T	10: 78,648,646 (GRCm39)	T456S	possibly damaging	Het
Slc26a2	A	T	18: 61,331,901 (GRCm39)	M510K	possibly damaging	Het
Slc5a9	T	C	4: 111,741,036 (GRCm39)	T537A	probably benign	Het
Slc9b2	T	C	3: 135,031,939 (GRCm39)	Y132H	unknown	Het
Sltm	T	C	9: 70,492,132 (GRCm39)	L725S	probably damaging	Het
Spz1	A	G	13: 92,712,435 (GRCm39)	C14R	probably benign	Het
Srrm4	T	A	5: 116,609,301 (GRCm39)	Q172L	unknown	Het
Synj2bp	T	C	12: 81,551,289 (GRCm39)	D92G	probably benign	Het
Tmem169	A	C	1: 72,340,229 (GRCm39)	T220P	probably benign	Het
Ttn	T	A	2: 76,718,372 (GRCm39)	I7270F	unknown	Het
Txndc16	T	G	14: 45,420,611 (GRCm39)	N137H	probably benign	Het
Ubr5	A	G	15: 37,976,389 (GRCm39)	Y2499H		Het
Ugt2b38	T	C	5: 87,558,305 (GRCm39)	D452G	probably damaging	Het
Zfp12	T	A	5: 143,231,257 (GRCm39)	I560N	possibly damaging	Het
Zfp60	A	G	7: 27,448,937 (GRCm39)	K535R	possibly damaging	Het
Zfp960	T	A	17: 17,308,761 (GRCm39)	C492S	probably 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
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
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
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'- CATGTCACAAAAGAAGTGGCGC -3'
(R):5'- CAATCTGAGCATGGTGGTGC -3'

Sequencing Primer
(F):5'- GCAGAGATGAGCAGTGTATGTAG -3'
(R):5'- CTGGTGAGGTCTGATGGGGC -3'

Posted On

2019-06-26