Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03037:Or1x2'

408708

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or1x2

Ensembl Gene

ENSMUSG00000059397

Gene Name

olfactory receptor family 1 subfamily X member 2

Synonyms

GA_x6K02T2QP88-4411197-4410256, MOR126-1, Olfr54, F3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL03037

Quality Score

Status

Chromosome

Chromosomal Location

50917831-50918772 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50918117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 96 (Y96F)

Ref Sequence

ENSEMBL: ENSMUSP00000150809 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072152] [ENSMUST00000215409] [ENSMUST00000217480]

AlphaFold

Q8VFE6

Predicted Effect

probably damaging
Transcript: ENSMUST00000072152
AA Change: Y96F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072016
Gene: ENSMUSG00000059397
AA Change: Y96F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	309	3e-57	PFAM
Pfam:7TM_GPCR_Srsx	37	306	8.8e-6	PFAM
Pfam:7tm_1	43	291	2.7e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215409
AA Change: Y96F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217480
AA Change: Y96F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	C	9: 107,807,294 (GRCm39)	L539P	probably damaging	Het
Adam23	A	T	1: 63,610,176 (GRCm39)	Q726L	possibly damaging	Het
Ago1	T	C	4: 126,355,587 (GRCm39)	E74G	probably benign	Het
Atp6v1d	C	A	12: 78,904,122 (GRCm39)		probably benign	Het
Bltp1	C	A	3: 37,023,356 (GRCm39)	S2227R	probably benign	Het
Bltp1	T	C	3: 37,023,357 (GRCm39)	S2229P	probably damaging	Het
Cadm4	T	A	7: 24,200,220 (GRCm39)	L243Q	probably damaging	Het
Camsap2	C	A	1: 136,202,595 (GRCm39)	L1274F	probably damaging	Het
Car10	A	G	11: 92,991,044 (GRCm39)		probably benign	Het
Catsperd	A	T	17: 56,948,583 (GRCm39)	D186V	possibly damaging	Het
Cdc42bpg	A	G	19: 6,361,230 (GRCm39)	Y285C	probably damaging	Het
Cenpi	T	A	X: 133,250,017 (GRCm39)	C599S	possibly damaging	Het
Cln8	A	T	8: 14,944,679 (GRCm39)		probably benign	Het
Cnksr1	T	C	4: 133,962,417 (GRCm39)		probably null	Het
Cripto	C	A	9: 110,772,288 (GRCm39)	W36L	probably benign	Het
Ddx5	T	C	11: 106,672,930 (GRCm39)	N532D	possibly damaging	Het
Dock11	G	T	X: 35,310,699 (GRCm39)		probably benign	Het
Dock8	A	G	19: 25,063,545 (GRCm39)	E249G	probably benign	Het
Espnl	T	C	1: 91,269,643 (GRCm39)	V393A	probably benign	Het
Fhip1b	A	T	7: 105,028,293 (GRCm39)	H885Q	probably benign	Het
Frrs1	T	C	3: 116,696,116 (GRCm39)		probably benign	Het
Fstl4	C	A	11: 53,059,050 (GRCm39)	A503D	possibly damaging	Het
Gda	T	A	19: 21,411,673 (GRCm39)	I42L	possibly damaging	Het
Gprc5d	C	A	6: 135,093,319 (GRCm39)	C196F	probably damaging	Het
Hnrnpa0	A	G	13: 58,275,767 (GRCm39)	F121L	probably damaging	Het
Hsd3b7	C	T	7: 127,400,322 (GRCm39)	H24Y	probably damaging	Het
Ift140	T	C	17: 25,311,368 (GRCm39)	S1188P	probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mcemp1	C	A	8: 3,717,055 (GRCm39)	Y65*	probably null	Het
Mmp16	C	T	4: 17,996,222 (GRCm39)	P104S	probably damaging	Het
Mpst	C	A	15: 78,294,798 (GRCm39)	R177S	probably benign	Het
Nek1	A	T	8: 61,487,086 (GRCm39)	T279S	probably benign	Het
Or1q1	C	T	2: 36,887,560 (GRCm39)	T246I	probably benign	Het
Or4c11b	A	G	2: 88,625,299 (GRCm39)	Y191C	probably damaging	Het
Or7g18	T	A	9: 18,786,668 (GRCm39)	I12N	probably damaging	Het
Pard3	A	T	8: 128,032,975 (GRCm39)	T190S	probably benign	Het
Pik3r4	A	G	9: 105,528,012 (GRCm39)	D455G	probably damaging	Het
Piwil4	T	C	9: 14,616,308 (GRCm39)	I756V	possibly damaging	Het
Pkhd1	A	G	1: 20,592,923 (GRCm39)	L1730P	probably benign	Het
Pnpla3	T	C	15: 84,056,960 (GRCm39)	I155T	probably damaging	Het
Prmt8	T	C	6: 127,680,940 (GRCm39)	Y243C	possibly damaging	Het
Rbfox1	T	A	16: 7,110,147 (GRCm39)		probably benign	Het
Rps6ka2	G	A	17: 7,521,849 (GRCm39)		probably null	Het
Scaf8	A	G	17: 3,240,496 (GRCm39)	K623E	probably damaging	Het
Slc26a4	A	T	12: 31,581,686 (GRCm39)		probably benign	Het
Slfn8	T	A	11: 82,894,078 (GRCm39)	I854F	probably damaging	Het
Smarca4	T	C	9: 21,544,231 (GRCm39)		probably benign	Het
Sos1	T	C	17: 80,727,758 (GRCm39)	D775G	probably damaging	Het
Spag17	G	A	3: 99,979,486 (GRCm39)		probably null	Het
Spata31d1d	T	A	13: 59,873,947 (GRCm39)	E1196V	possibly damaging	Het
Sqle	T	A	15: 59,193,246 (GRCm39)	Y208N	probably damaging	Het
Tcl1b5	C	T	12: 105,145,273 (GRCm39)	T79M	probably benign	Het
Tenm3	A	G	8: 48,751,913 (GRCm39)	F959L	possibly damaging	Het
Tnfrsf19	T	A	14: 61,261,721 (GRCm39)	K26I	possibly damaging	Het
Trappc10	A	T	10: 78,034,869 (GRCm39)		probably benign	Het
Trim80	T	C	11: 115,332,419 (GRCm39)	W204R	possibly damaging	Het
Trpm3	A	G	19: 22,866,776 (GRCm39)	T536A	possibly damaging	Het
Ttbk1	G	A	17: 46,757,256 (GRCm39)	T1126I	probably benign	Het
Uaca	A	G	9: 60,748,147 (GRCm39)	D37G	probably damaging	Het
Ube3a	T	C	7: 58,896,971 (GRCm39)		probably benign	Het
Ubqln2	C	T	X: 152,282,692 (GRCm39)	Q415*	probably null	Het
Ugp2	T	A	11: 21,282,540 (GRCm39)	K151*	probably null	Het
Wasf1	A	G	10: 40,806,654 (GRCm39)	K99R	probably benign	Het
Wnt4	C	T	4: 137,016,472 (GRCm39)	T42M	possibly damaging	Het
Zfp54	T	A	17: 21,650,477 (GRCm39)	D17E	probably damaging	Het

Other mutations in Or1x2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01514:Or1x2	APN	11	50,918,416 (GRCm39)	nonsense	probably null
IGL01875:Or1x2	APN	11	50,918,202 (GRCm39)	missense	probably damaging	1.00
IGL01936:Or1x2	APN	11	50,918,162 (GRCm39)	missense	probably benign	0.02
IGL02165:Or1x2	APN	11	50,918,470 (GRCm39)	missense	probably benign	0.00
IGL02474:Or1x2	APN	11	50,918,192 (GRCm39)	missense	probably damaging	1.00
IGL02706:Or1x2	APN	11	50,918,091 (GRCm39)	missense	probably damaging	0.99
IGL02983:Or1x2	APN	11	50,918,207 (GRCm39)	missense	probably damaging	1.00
IGL03086:Or1x2	APN	11	50,918,557 (GRCm39)	missense	probably damaging	1.00
R0114:Or1x2	UTSW	11	50,918,431 (GRCm39)	missense	probably benign	0.34
R1201:Or1x2	UTSW	11	50,917,937 (GRCm39)	missense	probably damaging	0.99
R1353:Or1x2	UTSW	11	50,917,833 (GRCm39)	start codon destroyed	probably null	0.33
R1624:Or1x2	UTSW	11	50,917,952 (GRCm39)	missense	probably damaging	1.00
R1961:Or1x2	UTSW	11	50,918,302 (GRCm39)	missense	probably benign	0.00
R5318:Or1x2	UTSW	11	50,918,420 (GRCm39)	missense	probably benign	0.01
R5335:Or1x2	UTSW	11	50,918,161 (GRCm39)	missense	probably benign	0.00
R6409:Or1x2	UTSW	11	50,918,015 (GRCm39)	missense	probably damaging	1.00
R7097:Or1x2	UTSW	11	50,918,428 (GRCm39)	missense	probably benign	0.09
R8243:Or1x2	UTSW	11	50,918,138 (GRCm39)	missense	probably benign

Posted On

2016-08-02