Mutagenetix > Incidental Mutation

Incidental Mutation 'R5049:Olfr71'

394511

Institutional Source

Beutler Lab

Gene Symbol

Olfr71

Ensembl Gene

ENSMUSG00000046450

Gene Name

olfactory receptor 71

Synonyms

GA_x6K02T2N78B-16230286-16231224, mOR17, MOR262-4

MMRRC Submission

042639-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R5049 (G1)

Quality Score

174

Status

Validated

Chromosome

Chromosomal Location

43704562-43710255 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43706259 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 103 (L103Q)

Ref Sequence

ENSEMBL: ENSMUSP00000149725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055401] [ENSMUST00000107862] [ENSMUST00000217544]

AlphaFold

Q9QZ18

Predicted Effect

probably damaging
Transcript: ENSMUST00000055401
AA Change: L103Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000060230
Gene: ENSMUSG00000046450
AA Change: L103Q

Domain	Start	End	E-Value	Type
Pfam:7tm_1	41	290	2.4e-34	PFAM
Pfam:7tm_4	139	283	4.5e-44	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107862
AA Change: L103Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103494
Gene: ENSMUSG00000046450
AA Change: L103Q

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	2.2e-52	PFAM
Pfam:7tm_1	41	290	7.5e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000217544
AA Change: L103Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.5871

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 95.8%
20x: 90.4%

Validation Efficiency

97% (89/92)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810013L24Rik	T	A	16: 8,843,209	D183E	probably damaging	Het
4932438A13Rik	T	A	3: 37,040,506		probably benign	Het
4932438A13Rik	T	C	3: 37,041,390	M1016T	probably damaging	Het
9330182L06Rik	A	G	5: 9,428,488	T451A	probably damaging	Het
Aamp	A	G	1: 74,282,539	S76P	probably damaging	Het
Acot8	A	G	2: 164,799,690		probably benign	Het
Angptl7	A	G	4: 148,498,011	F143L	probably benign	Het
Atxn7l1	A	G	12: 33,358,687	T283A	probably benign	Het
Brd3	G	T	2: 27,450,577		probably benign	Het
C130026L21Rik	T	A	5: 111,581,836		noncoding transcript	Het
Cbr4	T	G	8: 61,495,204		probably null	Het
Ccl19	A	G	4: 42,756,268		probably null	Het
Ccl2	G	T	11: 82,036,507	C34F	probably damaging	Het
Dnah12	A	T	14: 26,735,697	T873S	probably benign	Het
Dnah2	T	C	11: 69,448,166	N3118S	probably damaging	Het
Epb41l1	C	A	2: 156,524,939	P564Q	possibly damaging	Het
Extl3	A	T	14: 65,076,032	M567K	probably benign	Het
Fam160b1	T	C	19: 57,386,305	I704T	possibly damaging	Het
Fam208b	A	T	13: 3,574,000	H1983Q	probably benign	Het
Foxf2	T	C	13: 31,627,175	S366P	probably benign	Het
Gamt	T	A	10: 80,258,954	T186S	probably benign	Het
Gcn1l1	T	A	5: 115,606,671	M1642K	probably damaging	Het
Gm21738	T	A	14: 19,415,957	Y194F	probably benign	Het
Golga1	A	T	2: 39,047,735	M115K	probably damaging	Het
Herc3	A	G	6: 58,894,539		probably null	Het
Hes2	C	A	4: 152,159,874	L39I	possibly damaging	Het
Hopx	C	A	5: 77,095,052		probably benign	Het
Idi1	C	T	13: 8,888,042	P175S	probably damaging	Het
Ifit1bl1	A	T	19: 34,594,081	C325*	probably null	Het
Ighv7-3	T	C	12: 114,153,333	I70V	probably benign	Het
Kcnq3	T	C	15: 66,285,897	T110A	probably benign	Het
Kif5a	T	C	10: 127,239,839	D451G	possibly damaging	Het
Lama3	A	G	18: 12,582,611	E1708G	probably benign	Het
Lrriq4	T	A	3: 30,650,937	D371E	probably damaging	Het
Lyst	T	A	13: 13,636,064	V773E	probably damaging	Het
Map4	T	A	9: 110,079,814	L23*	probably null	Het
Mapkbp1	G	T	2: 120,015,501		probably benign	Het
Mrpl30	A	T	1: 37,897,710	D52V	possibly damaging	Het
Olfr1122	A	T	2: 87,388,658	T318S	probably benign	Het
Pard3b	T	A	1: 62,161,161	H286Q	probably benign	Het
Parp4	A	G	14: 56,635,731	K1144R	possibly damaging	Het
Pdcd11	C	A	19: 47,107,115	S625R	probably benign	Het
Pkhd1l1	T	C	15: 44,457,616	S22P	probably benign	Het
Prss32	A	T	17: 23,859,247	E302D	possibly damaging	Het
Prss45	A	G	9: 110,840,470	K205E	probably damaging	Het
Puf60	T	A	15: 76,070,474	I500F	probably damaging	Het
Ryr3	A	T	2: 112,640,171	I4623N	probably damaging	Het
Sh3bp5l	T	A	11: 58,338,124		probably benign	Het
Slc3a1	T	G	17: 85,032,845	Y232D	probably damaging	Het
Slc8a3	A	G	12: 81,214,132	Y608H	probably damaging	Het
Socs7	G	T	11: 97,378,643	R429L	probably benign	Het
Sorcs3	C	A	19: 48,759,951	N786K	possibly damaging	Het
Sp4	A	T	12: 118,254,472	M680K	probably benign	Het
Tas2r131	T	C	6: 132,957,577	T90A	probably damaging	Het
Tbx21	T	C	11: 97,114,710	H143R	probably benign	Het
Tg	T	A	15: 66,827,382	C833*	probably null	Het
Tmem245	A	G	4: 56,925,057	S355P	probably benign	Het
Tmem86b	G	A	7: 4,628,466	P191S	possibly damaging	Het
Tnc	A	G	4: 64,017,986	C238R	probably damaging	Het
Tnn	T	A	1: 160,140,738	E361D	probably benign	Het
Tpp2	T	C	1: 44,001,473	V298A	possibly damaging	Het
Trav7-6	A	G	14: 53,717,079	N22S	probably damaging	Het
Trim75	T	C	8: 64,982,439		probably null	Het
Trrap	T	A	5: 144,826,717	I2492N	probably damaging	Het
Ufl1	G	T	4: 25,254,773	A561E	probably benign	Het
Uqcc1	A	G	2: 155,910,421	V86A	probably damaging	Het
Vmn1r184	A	G	7: 26,267,368	I180V	possibly damaging	Het
Vmn1r185	A	G	7: 26,611,495	F195S	possibly damaging	Het
Vmn2r4	A	C	3: 64,398,598		probably null	Het
Vmn2r87	T	C	10: 130,472,429	T647A	probably damaging	Het
Vps13d	A	T	4: 145,086,766	H198Q	probably damaging	Het
Wdfy4	T	C	14: 33,152,670	T154A	possibly damaging	Het
Xirp2	A	G	2: 67,517,134	M3240V	probably benign	Het
Zfp101	T	C	17: 33,381,898	R295G	possibly damaging	Het
Zfp619	G	A	7: 39,535,514	V323I	probably benign	Het
Zfy1	A	T	Y: 726,004	I587N	possibly damaging	Het
Zswim6	C	T	13: 107,726,575		noncoding transcript	Het

Other mutations in Olfr71

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02317:Olfr71	APN	4	43706172	missense	probably damaging	1.00
PIT4453001:Olfr71	UTSW	4	43706464	missense	probably damaging	1.00
R0597:Olfr71	UTSW	4	43706592	splice site	probably null
R0610:Olfr71	UTSW	4	43706400	missense	possibly damaging	0.69
R1588:Olfr71	UTSW	4	43705923	missense	probably damaging	0.98
R1619:Olfr71	UTSW	4	43706292	missense	probably damaging	1.00
R1779:Olfr71	UTSW	4	43706041	missense	probably damaging	1.00
R2871:Olfr71	UTSW	4	43706458	missense	probably benign	0.30
R2871:Olfr71	UTSW	4	43706458	missense	probably benign	0.30
R4723:Olfr71	UTSW	4	43705785	missense	probably damaging	1.00
R4891:Olfr71	UTSW	4	43706194	missense	probably damaging	0.99
R5151:Olfr71	UTSW	4	43706518	missense	probably damaging	0.99
R5491:Olfr71	UTSW	4	43705990	missense	probably damaging	1.00
R5521:Olfr71	UTSW	4	43705788	missense	possibly damaging	0.88
R6225:Olfr71	UTSW	4	43705698	missense	probably damaging	1.00
R6518:Olfr71	UTSW	4	43706334	missense	probably benign	0.05
R6883:Olfr71	UTSW	4	43705723	missense	possibly damaging	0.93
R7185:Olfr71	UTSW	4	43706082	missense	possibly damaging	0.82
R7339:Olfr71	UTSW	4	43706080	missense	probably benign	0.05
R7502:Olfr71	UTSW	4	43706316	missense	probably damaging	0.97
R8052:Olfr71	UTSW	4	43705884	missense	probably damaging	0.97
R8797:Olfr71	UTSW	4	43706455	missense	probably damaging	1.00
R9701:Olfr71	UTSW	4	43705793	missense	probably benign	0.00
X0017:Olfr71	UTSW	4	43705990	missense	probably damaging	1.00
X0021:Olfr71	UTSW	4	43706326	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTGCCACTGACTTGAAGAGG -3'
(R):5'- GAAGGGATTTTCTGGCTACCCG -3'

Sequencing Primer
(F):5'- CTTGAAGAGGCAGAGCACCC -3'
(R):5'- GCTCAGTCATGTACCTGGTGAC -3'

Posted On

2016-06-15