Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03354:Or2ad1'

419851

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or2ad1

Ensembl Gene

ENSMUSG00000045474

Gene Name

olfactory receptor family 2 subfamily AD member 1

Synonyms

MOR256-15, Olfr1368, GA_x6K02T2QHY8-12104556-12105500

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

IGL03354

Quality Score

Status

Chromosome

Chromosomal Location

21326281-21327225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21326654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 191 (Y191C)

Ref Sequence

ENSEMBL: ENSMUSP00000149549 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055298] [ENSMUST00000216039]

AlphaFold

Q8VFG3

Predicted Effect

probably damaging
Transcript: ENSMUST00000055298
AA Change: Y191C

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

SMART Domains

Protein: ENSMUSP00000050942
Gene: ENSMUSG00000045474
AA Change: Y191C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	4.8e-49	PFAM
Pfam:7tm_1	41	290	1.6e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206267

Predicted Effect

probably damaging
Transcript: ENSMUST00000216039
AA Change: Y191C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; 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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	A	5: 138,645,041 (GRCm39)	A309T	possibly damaging	Het
Abca15	C	A	7: 119,993,711 (GRCm39)	Y1310*	probably null	Het
Adad1	G	T	3: 37,160,322 (GRCm39)	C552F	probably damaging	Het
Adam22	A	G	5: 8,208,890 (GRCm39)	S180P	possibly damaging	Het
Anxa10	A	T	8: 62,549,778 (GRCm39)	D22E	probably damaging	Het
Astn1	T	C	1: 158,516,174 (GRCm39)	S1255P	probably damaging	Het
Bhlhe41	T	C	6: 145,809,929 (GRCm39)	T92A	probably damaging	Het
Bicc1	G	A	10: 70,782,432 (GRCm39)	P603S	probably benign	Het
Camk2d	T	C	3: 126,590,615 (GRCm39)		probably null	Het
Ccdc136	T	A	6: 29,419,102 (GRCm39)	I808N	probably damaging	Het
Cd200r3	C	T	16: 44,773,960 (GRCm39)	A124V	possibly damaging	Het
Cfap70	T	C	14: 20,482,050 (GRCm39)	E310G	probably damaging	Het
Cyp2d12	A	T	15: 82,443,162 (GRCm39)	D357V	probably damaging	Het
Dnah7b	G	A	1: 46,124,849 (GRCm39)	V173I	probably damaging	Het
Dnajb4	T	A	3: 151,892,115 (GRCm39)	E239D	probably benign	Het
Dzip1	G	A	14: 119,149,981 (GRCm39)		probably benign	Het
Emp2	A	G	16: 10,103,429 (GRCm39)	I74T	probably damaging	Het
Ermn	T	G	2: 57,942,634 (GRCm39)	E32A	probably benign	Het
F10	C	A	8: 13,095,089 (GRCm39)	T82N	probably benign	Het
Fam227a	T	C	15: 79,520,951 (GRCm39)	D295G	possibly damaging	Het
Gm527	T	A	12: 64,969,154 (GRCm39)	F194I	probably damaging	Het
Gmcl1	G	A	6: 86,703,140 (GRCm39)	T98M	probably damaging	Het
Gucy2g	T	C	19: 55,221,512 (GRCm39)	R330G	possibly damaging	Het
H1f4	C	T	13: 23,806,060 (GRCm39)		probably benign	Het
Kif1a	T	C	1: 92,987,957 (GRCm39)	H549R	probably damaging	Het
Klhl14	T	A	18: 21,784,785 (GRCm39)	D214V	probably damaging	Het
Lipo2	A	G	19: 33,708,270 (GRCm39)	F248S	probably benign	Het
Mctp2	C	T	7: 71,810,992 (GRCm39)	V661I	probably benign	Het
Myh15	A	T	16: 48,992,373 (GRCm39)	M1616L	probably benign	Het
Nlrp4b	A	T	7: 10,448,465 (GRCm39)	I223F	probably damaging	Het
Or1j18	A	T	2: 36,624,524 (GRCm39)	S64C	possibly damaging	Het
Or1j18	G	T	2: 36,624,525 (GRCm39)	S64I	possibly damaging	Het
Or2ag2	A	G	7: 106,485,307 (GRCm39)	V239A	probably benign	Het
Or2b28	T	C	13: 21,531,686 (GRCm39)	V196A	possibly damaging	Het
Or4c3d	A	C	2: 89,881,911 (GRCm39)	C252W	probably damaging	Het
Or5p80	T	A	7: 108,229,735 (GRCm39)	C179S	possibly damaging	Het
Or5w1b	T	C	2: 87,475,939 (GRCm39)	N176S	probably damaging	Het
Pcsk4	T	C	10: 80,161,893 (GRCm39)	D116G	probably damaging	Het
Pibf1	A	G	14: 99,388,174 (GRCm39)	D440G	probably benign	Het
Plekho2	T	C	9: 65,466,703 (GRCm39)	E129G	probably null	Het
Ptgds	T	C	2: 25,359,622 (GRCm39)	T22A	probably benign	Het
Rars1	A	G	11: 35,715,302 (GRCm39)	L248P	probably damaging	Het
Ruvbl1	C	A	6: 88,456,197 (GRCm39)	Y90*	probably null	Het
Schip1	A	G	3: 68,402,298 (GRCm39)	D125G	possibly damaging	Het
Skic3	T	C	13: 76,330,941 (GRCm39)	V1457A	possibly damaging	Het
Smarca2	T	C	19: 26,597,303 (GRCm39)	S62P	probably benign	Het
Sort1	T	C	3: 108,256,022 (GRCm39)	V656A	probably benign	Het
Tlr12	A	G	4: 128,509,730 (GRCm39)	L840P	probably damaging	Het
Trpm3	T	A	19: 22,834,082 (GRCm39)	I438N	probably damaging	Het
Wdr11	C	A	7: 129,227,026 (GRCm39)	F829L	probably benign	Het
Zdhhc11	A	T	13: 74,127,264 (GRCm39)	I214F	possibly damaging	Het

Other mutations in Or2ad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03385:Or2ad1	APN	13	21,326,657 (GRCm39)	missense	probably benign	0.01
R0137:Or2ad1	UTSW	13	21,326,336 (GRCm39)	missense	possibly damaging	0.86
R1168:Or2ad1	UTSW	13	21,326,787 (GRCm39)	missense	probably benign	0.04
R1212:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1214:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1237:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1238:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1239:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1280:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1309:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1436:Or2ad1	UTSW	13	21,327,162 (GRCm39)	missense	probably benign	0.01
R1443:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1444:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1602:Or2ad1	UTSW	13	21,326,820 (GRCm39)	missense	probably damaging	0.99
R1627:Or2ad1	UTSW	13	21,327,125 (GRCm39)	missense	probably damaging	0.99
R1649:Or2ad1	UTSW	13	21,326,912 (GRCm39)	missense	probably damaging	1.00
R1781:Or2ad1	UTSW	13	21,326,934 (GRCm39)	missense	probably benign	0.08
R1858:Or2ad1	UTSW	13	21,326,564 (GRCm39)	missense	probably damaging	1.00
R2520:Or2ad1	UTSW	13	21,326,746 (GRCm39)	nonsense	probably null
R4873:Or2ad1	UTSW	13	21,326,450 (GRCm39)	missense	probably damaging	1.00
R4875:Or2ad1	UTSW	13	21,326,450 (GRCm39)	missense	probably damaging	1.00
R5009:Or2ad1	UTSW	13	21,326,435 (GRCm39)	missense	probably benign	0.01
R6222:Or2ad1	UTSW	13	21,327,047 (GRCm39)	missense	probably damaging	1.00
R7031:Or2ad1	UTSW	13	21,327,170 (GRCm39)	missense	probably benign
R7126:Or2ad1	UTSW	13	21,326,888 (GRCm39)	missense	probably damaging	1.00
R7691:Or2ad1	UTSW	13	21,327,140 (GRCm39)	missense	probably benign
R7875:Or2ad1	UTSW	13	21,327,093 (GRCm39)	missense	probably damaging	1.00
R7966:Or2ad1	UTSW	13	21,326,356 (GRCm39)	nonsense	probably null
R8015:Or2ad1	UTSW	13	21,326,303 (GRCm39)	missense	probably benign
R8155:Or2ad1	UTSW	13	21,327,062 (GRCm39)	missense	probably damaging	1.00
R8247:Or2ad1	UTSW	13	21,326,295 (GRCm39)	missense	probably benign
R8787:Or2ad1	UTSW	13	21,326,453 (GRCm39)	missense	possibly damaging	0.93

Posted On

2016-08-02