Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02104:Olfr1031'

279872

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr1031

Ensembl Gene

ENSMUSG00000043267

Gene Name

olfactory receptor 1031

Synonyms

GA_x6K02T2Q125-47470765-47471775, MOR200-1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

IGL02104

Quality Score

Status

Chromosome

Chromosomal Location

85990304-85993704 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 85992386 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 190 (D190Y)

Ref Sequence

ENSEMBL: ENSMUSP00000149225 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050942] [ENSMUST00000056849] [ENSMUST00000216807]

Predicted Effect

probably damaging
Transcript: ENSMUST00000050942
AA Change: D190Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000059256
Gene: ENSMUSG00000043267
AA Change: D190Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	1.1e-55	PFAM
Pfam:7tm_1	40	289	6.6e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056849

SMART Domains

Protein: ENSMUSP00000053309
Gene: ENSMUSG00000044923

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	314	2.4e-58	PFAM
Pfam:7tm_1	47	296	3.2e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216807
AA Change: D190Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933440M02Rik	T	C	7: 125,331,542		noncoding transcript	Het
Abcb5	T	A	12: 118,940,680	Q125L	probably damaging	Het
Acap3	G	A	4: 155,905,085	R662H	probably damaging	Het
Aox4	T	A	1: 58,236,657		probably benign	Het
Aqp6	T	C	15: 99,604,278	S285P	probably benign	Het
Arhgef5	A	T	6: 43,272,411	Q32L	probably damaging	Het
B3gnt6	G	T	7: 98,194,101	D217E	probably damaging	Het
Chd6	T	C	2: 160,977,512	I1338V	probably benign	Het
Clic6	A	G	16: 92,498,479	E9G	possibly damaging	Het
Col11a1	T	A	3: 114,181,397		probably null	Het
Dcdc2b	T	A	4: 129,611,074	D88V	probably benign	Het
Dis3l	T	A	9: 64,310,329	K791N	possibly damaging	Het
Dmxl2	A	T	9: 54,404,015	Y1008*	probably null	Het
Dnah11	A	G	12: 118,192,390	V175A	probably benign	Het
Efl1	A	G	7: 82,658,055		probably null	Het
Fam117b	C	T	1: 59,949,119	T219I	probably benign	Het
Fgf21	T	A	7: 45,615,224	Q28L	probably benign	Het
Folh1	T	C	7: 86,744,430	Q391R	possibly damaging	Het
Gars	A	G	6: 55,077,697	D663G	probably damaging	Het
Lats2	A	G	14: 57,734,012	F69L	probably damaging	Het
Lrp2	C	T	2: 69,510,418	V1038M	probably damaging	Het
Map3k1	A	T	13: 111,756,243	V826E	probably damaging	Het
Mapkap1	T	A	2: 34,623,470	Y497*	probably null	Het
Mast3	T	C	8: 70,787,906	I296V	possibly damaging	Het
Mon1a	T	G	9: 107,901,615	L346R	probably damaging	Het
Mphosph8	T	C	14: 56,674,579	L353S	probably benign	Het
Muc5ac	T	C	7: 141,811,078	Y2634H	probably damaging	Het
Mylk	A	G	16: 34,815,435	T9A	probably benign	Het
Olfr1440	T	A	19: 12,394,899	V212D	probably damaging	Het
Olfr1484	T	A	19: 13,585,604	M57K	probably damaging	Het
Olfr418	T	C	1: 173,271,036	V287A	probably damaging	Het
Olfr543	C	A	7: 102,477,337	V178F	probably damaging	Het
Olfr761	A	C	17: 37,952,291	H244Q	probably damaging	Het
Olfr843	A	T	9: 19,248,870	H176Q	probably benign	Het
Pabpc2	A	C	18: 39,774,883	Q400H	possibly damaging	Het
Pigg	A	G	5: 108,342,097	Y856C	probably damaging	Het
Plekhn1	A	T	4: 156,222,408	V508E	probably benign	Het
Pom121l2	C	A	13: 21,982,275	H239N	possibly damaging	Het
Prdm2	A	G	4: 143,133,427	S1098P	probably benign	Het
Rnf212	A	G	5: 108,747,440	I41T	possibly damaging	Het
Rngtt	A	G	4: 33,320,517		probably null	Het
Rpn2	C	T	2: 157,321,827	T613M	probably damaging	Het
Scd4	G	T	19: 44,344,747	V304F	possibly damaging	Het
Sez6l	A	G	5: 112,426,764		probably benign	Het
Shroom3	A	G	5: 92,940,389	R158G	probably benign	Het
Stil	T	C	4: 115,041,482	L1103P	probably damaging	Het
Tanc2	T	C	11: 105,780,133		probably benign	Het
Tmc1	C	T	19: 20,832,454	D255N	probably benign	Het
Trank1	C	A	9: 111,390,712	D2172E	possibly damaging	Het
Tyro3	G	A	2: 119,813,200	R718H	probably damaging	Het
Vamp2	C	A	11: 69,090,657	F114L	probably benign	Het
Wdr66	T	A	5: 123,302,698	L1106*	probably null	Het

Other mutations in Olfr1031

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02475:Olfr1031	APN	2	85992032	missense	probably benign	0.19
IGL03230:Olfr1031	APN	2	85992239	missense	probably benign	0.00
IGL03405:Olfr1031	APN	2	85991886	missense	possibly damaging	0.84
PIT4151001:Olfr1031	UTSW	2	85992194	missense	probably damaging	0.96
PIT4366001:Olfr1031	UTSW	2	85992041	missense	probably damaging	1.00
R0344:Olfr1031	UTSW	2	85992382	nonsense	probably null
R1168:Olfr1031	UTSW	2	85992684	missense	probably damaging	1.00
R1170:Olfr1031	UTSW	2	85992696	missense	probably damaging	1.00
R2345:Olfr1031	UTSW	2	85991822	missense	probably benign	0.01
R2915:Olfr1031	UTSW	2	85992045	missense	probably damaging	1.00
R3498:Olfr1031	UTSW	2	85992430	missense	probably benign	0.43
R4058:Olfr1031	UTSW	2	85992232	missense	possibly damaging	0.87
R4747:Olfr1031	UTSW	2	85991927	missense	probably damaging	1.00
R4859:Olfr1031	UTSW	2	85992731	missense	probably damaging	0.96
R4991:Olfr1031	UTSW	2	85992287	missense	probably damaging	0.99
R5438:Olfr1031	UTSW	2	85992581	missense	probably damaging	1.00
R6362:Olfr1031	UTSW	2	85991941	missense	probably damaging	1.00
R7458:Olfr1031	UTSW	2	85992650	missense	probably damaging	1.00
R7535:Olfr1031	UTSW	2	85991901	missense	probably benign	0.37

Posted On

2015-04-16