Mutagenetix > Incidental Mutation

Incidental Mutation 'R1792:Or1r1'

201854

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

039822-MU

Accession Numbers

Essential gene?

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

Stock #

R1792 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73874488-73875432 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 73874673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 254 (S254A)

Ref Sequence

ENSEMBL: ENSMUSP00000149170 (fasta)

Gene Model

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

AlphaFold

Q8VFY0

Predicted Effect

probably benign
Transcript: ENSMUST00000053874
AA Change: S254A

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000059548
Gene: ENSMUSG00000049041
AA Change: S254A

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 benign
Transcript: ENSMUST00000117510
AA Change: S254A

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113005
Gene: ENSMUSG00000049041
AA Change: S254A

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 benign
Transcript: ENSMUST00000214334
AA Change: S254A

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.4%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	C	T	11: 110,074,870 (GRCm39)	V1398I	probably benign	Het
Ackr3	A	T	1: 90,142,620 (GRCm39)	N360Y	probably benign	Het
Acr	T	G	15: 89,457,346 (GRCm39)	M198R	probably benign	Het
Adamts14	A	T	10: 61,054,277 (GRCm39)	M585K	probably benign	Het
Adgrb3	A	T	1: 25,267,552 (GRCm39)	C853S	probably damaging	Het
Arhgef28	G	T	13: 98,067,694 (GRCm39)	S1410R	probably benign	Het
Asprv1	T	A	6: 86,605,354 (GRCm39)	F67I	possibly damaging	Het
Atp8b4	T	A	2: 126,167,214 (GRCm39)	Y1095F	probably benign	Het
Cadps	A	G	14: 12,449,802 (GRCm38)	S1136P	possibly damaging	Het
Ccdc57	T	C	11: 120,788,707 (GRCm39)	Q380R	possibly damaging	Het
Cdc45	A	T	16: 18,626,090 (GRCm39)	D142E	probably benign	Het
Cs	A	T	10: 128,195,948 (GRCm39)	N386Y	possibly damaging	Het
Dsc3	A	T	18: 20,120,055 (GRCm39)	V201E	probably damaging	Het
Dusp26	G	T	8: 31,581,963 (GRCm39)	R19L	probably benign	Het
Esyt3	C	A	9: 99,240,169 (GRCm39)	E92*	probably null	Het
Ext2	T	C	2: 93,534,890 (GRCm39)	N625D	probably damaging	Het
Flvcr2	A	T	12: 85,793,929 (GRCm39)	K102*	probably null	Het
Fmnl2	T	A	2: 52,932,329 (GRCm39)	S103T	possibly damaging	Het
Fmo4	T	A	1: 162,621,859 (GRCm39)	I451F	probably benign	Het
Gak	A	T	5: 108,733,397 (GRCm39)	Y47*	probably null	Het
Gbp10	A	T	5: 105,372,166 (GRCm39)	L198Q	probably damaging	Het
Gm11559	T	A	11: 99,755,755 (GRCm39)	S135T	unknown	Het
Gm14496	A	T	2: 181,637,946 (GRCm39)	D340V	probably benign	Het
Grin2a	T	C	16: 9,810,259 (GRCm39)	T47A	possibly damaging	Het
Gtf2ird1	A	T	5: 134,395,790 (GRCm39)		probably null	Het
Herc4	T	A	10: 63,081,680 (GRCm39)	M1K	probably null	Het
Hirip3	T	A	7: 126,461,792 (GRCm39)	V29E	probably damaging	Het
Hs3st5	A	G	10: 36,708,720 (GRCm39)	D85G	probably benign	Het
Htt	T	A	5: 35,064,543 (GRCm39)	S2981T	probably damaging	Het
Iho1	A	C	9: 108,282,111 (GRCm39)	S526A	possibly damaging	Het
Il20ra	G	A	10: 19,635,384 (GRCm39)	V542I	probably damaging	Het
Itgb2l	C	A	16: 96,226,282 (GRCm39)	C603F	probably damaging	Het
Klhl41	A	C	2: 69,501,146 (GRCm39)	K202N	probably benign	Het
Lct	G	A	1: 128,255,679 (GRCm39)	S121F	possibly damaging	Het
Lhx6	C	T	2: 35,977,387 (GRCm39)	G355D	probably damaging	Het
Limk2	A	G	11: 3,308,236 (GRCm39)	V121A	probably benign	Het
Med1	T	G	11: 98,048,109 (GRCm39)	K896Q	probably damaging	Het
Muc6	A	G	7: 141,214,371 (GRCm39)	F2789S	probably benign	Het
Nemf	T	A	12: 69,359,343 (GRCm39)	Y997F	probably damaging	Het
Nrap	A	G	19: 56,367,590 (GRCm39)	S296P	probably benign	Het
Nrxn1	T	C	17: 90,896,252 (GRCm39)	N961D	probably damaging	Het
Odad2	T	C	18: 7,286,743 (GRCm39)	T163A	probably benign	Het
Or6c207	A	T	10: 129,105,112 (GRCm39)	F27I	probably benign	Het
Or6y1	T	C	1: 174,276,303 (GRCm39)	V38A	probably benign	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pdk4	T	A	6: 5,489,166 (GRCm39)	H247L	probably damaging	Het
Pkd1l3	T	A	8: 110,359,237 (GRCm39)	V866E	probably damaging	Het
Pla2g4e	G	A	2: 119,998,955 (GRCm39)	P803L	probably damaging	Het
Pnisr	T	C	4: 21,860,968 (GRCm39)	V217A	possibly damaging	Het
Pole4	G	A	6: 82,629,720 (GRCm39)	P34L	unknown	Het
Pole4	G	T	6: 82,629,721 (GRCm39)	P34T	unknown	Het
Ptchd3	G	A	11: 121,732,377 (GRCm39)	W422*	probably null	Het
Rab1b	C	T	19: 5,150,513 (GRCm39)	A167T	probably benign	Het
Rasal1	T	C	5: 120,802,821 (GRCm39)	M359T	probably benign	Het
Rexo4	T	C	2: 26,850,248 (GRCm39)	N310D	probably benign	Het
Rgma	C	T	7: 73,067,585 (GRCm39)	T280M	probably damaging	Het
Rnaset2a	A	T	17: 8,364,408 (GRCm39)	I43N	probably damaging	Het
Rtcb	A	T	10: 85,778,446 (GRCm39)	V399E	probably damaging	Het
Scd4	T	G	19: 44,326,013 (GRCm39)	Y122*	probably null	Het
Sirt6	T	C	10: 81,462,355 (GRCm39)	I15V	possibly damaging	Het
Slamf8	A	T	1: 172,415,526 (GRCm39)	V104E	possibly damaging	Het
Slc12a4	A	G	8: 106,678,475 (GRCm39)	I285T	possibly damaging	Het
Slc25a13	G	A	6: 6,115,104 (GRCm39)	A207V	possibly damaging	Het
Slc6a21	T	C	7: 44,930,155 (GRCm39)	S185P	probably benign	Het
Smarcc2	A	C	10: 128,299,740 (GRCm39)	N135T	probably damaging	Het
Susd6	T	C	12: 80,921,065 (GRCm39)	S221P	probably damaging	Het
Syne1	C	T	10: 4,990,975 (GRCm39)	G8418D	probably damaging	Het
Tasor2	T	C	13: 3,640,559 (GRCm39)	K193E	possibly damaging	Het
Tbc1d7	C	T	13: 43,318,853 (GRCm39)	V95I	probably benign	Het
Tcerg1l	T	C	7: 137,963,595 (GRCm39)	D225G	probably benign	Het
Tfip11	A	T	5: 112,477,263 (GRCm39)	I82F	possibly damaging	Het
Tmem41a	C	T	16: 21,755,731 (GRCm39)	G192S	probably null	Het
Trrap	G	A	5: 144,790,396 (GRCm39)	A3619T	possibly damaging	Het
Tspoap1	G	A	11: 87,656,707 (GRCm39)		probably null	Het
Wfdc21	T	C	11: 83,637,883 (GRCm39)	S11P	probably benign	Het
Zc2hc1b	A	T	10: 13,044,474 (GRCm39)	V63E	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
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'- ATTACTCATCTTGGGGTGCTGC -3'
(R):5'- GTAATGCTGAGCTTGGCAAC -3'

Sequencing Primer
(F):5'- GGTGCTGCTCTCCATCTGAAAC -3'
(R):5'- TGAGCTTGGCAACCTCTGAC -3'

Posted On

2014-06-23