Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02421:Or1d2'

292662

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or1d2

Ensembl Gene

ENSMUSG00000058275

Gene Name

olfactory receptor family 1 subfamily D member 2

Synonyms

Olfr412, GA_x6K02T2P1NL-4500587-4501525, MOR127-5P

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.356) question?

Stock #

IGL02421

Quality Score

Status

Chromosome

Chromosomal Location

74255497-74256435 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74256017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 174 (I174T)

Ref Sequence

ENSEMBL: ENSMUSP00000149922 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077794] [ENSMUST00000216362]

AlphaFold

Q7TRW7

Predicted Effect

probably damaging
Transcript: ENSMUST00000077794
AA Change: I174T

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

SMART Domains

Protein: ENSMUSP00000076967
Gene: ENSMUSG00000058275
AA Change: I174T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.7e-51	PFAM
Pfam:7TM_GPCR_Srsx	35	172	1.8e-8	PFAM
Pfam:7tm_1	41	289	3.8e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216362
AA Change: I174T

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	T	C	2: 154,892,672 (GRCm39)	F117S	probably damaging	Het
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Acacb	A	G	5: 114,361,939 (GRCm39)	T1394A	probably benign	Het
Adam19	A	G	11: 46,028,380 (GRCm39)	N671S	probably damaging	Het
Akap13	A	T	7: 75,367,554 (GRCm39)	N1815I	possibly damaging	Het
Aloxe3	A	G	11: 69,020,872 (GRCm39)	D199G	possibly damaging	Het
Ap1g2	G	A	14: 55,339,859 (GRCm39)	A440V	probably damaging	Het
Bmt2	G	T	6: 13,628,841 (GRCm39)	Q281K	probably damaging	Het
Celsr3	T	C	9: 108,717,662 (GRCm39)	F2243L	probably damaging	Het
Cenpb	G	A	2: 131,021,601 (GRCm39)	R66C	probably damaging	Het
Chl1	A	T	6: 103,694,541 (GRCm39)	H1121L	probably damaging	Het
Cpb1	T	C	3: 20,306,148 (GRCm39)	Y344C	probably damaging	Het
Cspg5	T	A	9: 110,076,460 (GRCm39)		probably benign	Het
Dnah11	T	C	12: 118,150,637 (GRCm39)	N374D	probably damaging	Het
Dnah3	A	G	7: 119,550,215 (GRCm39)	V3368A	possibly damaging	Het
Eml4	T	C	17: 83,785,321 (GRCm39)	S829P	probably benign	Het
Got2-ps1	T	C	5: 138,362,811 (GRCm39)		noncoding transcript	Het
Hal	T	C	10: 93,339,335 (GRCm39)	C475R	probably damaging	Het
Mapkbp1	C	T	2: 119,850,136 (GRCm39)	P806S	possibly damaging	Het
Mmrn1	A	T	6: 60,921,806 (GRCm39)	T88S	probably benign	Het
Napsa	A	G	7: 44,234,479 (GRCm39)	H237R	probably damaging	Het
Opn5	C	T	17: 42,907,446 (GRCm39)		probably benign	Het
Or4c110	T	C	2: 88,831,688 (GRCm39)		probably null	Het
Or51f2	T	C	7: 102,526,966 (GRCm39)	I213T	probably damaging	Het
Or56b2	A	G	7: 104,337,740 (GRCm39)	N173D	probably benign	Het
Pira12	T	C	7: 3,899,994 (GRCm39)	N203D	possibly damaging	Het
Polb	C	T	8: 23,130,389 (GRCm39)	G179D	probably damaging	Het
Primpol	G	T	8: 47,060,830 (GRCm39)		probably benign	Het
Prom2	T	A	2: 127,373,802 (GRCm39)		probably null	Het
Psmb10	A	G	8: 106,664,124 (GRCm39)		probably null	Het
Ranbp2	T	G	10: 58,316,376 (GRCm39)	S2365R	probably damaging	Het
Sgce	G	A	6: 4,694,187 (GRCm39)		probably benign	Het
Slc25a34	A	G	4: 141,348,753 (GRCm39)	V237A	probably benign	Het
Slc39a2	A	T	14: 52,131,329 (GRCm39)	T25S	probably benign	Het
Smarca4	T	C	9: 21,550,535 (GRCm39)	C423R	probably damaging	Het
Stt3b	G	A	9: 115,080,920 (GRCm39)		probably benign	Het
Tbl1xr1	A	T	3: 22,257,327 (GRCm39)	I397F	probably damaging	Het
Tie1	A	G	4: 118,343,591 (GRCm39)	V117A	probably damaging	Het
Tmc3	T	C	7: 83,271,952 (GRCm39)	F1035L	probably benign	Het
Trhde	T	A	10: 114,248,366 (GRCm39)	K944N	probably damaging	Het
Vmn1r54	G	A	6: 90,246,133 (GRCm39)	A16T	probably benign	Het
Washc4	T	A	10: 83,415,414 (GRCm39)	N801K	probably damaging	Het
Xylt2	A	G	11: 94,558,588 (GRCm39)	Y523H	possibly damaging	Het
Znfx1	T	C	2: 166,902,000 (GRCm39)	R5G	probably damaging	Het

Other mutations in Or1d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Or1d2	APN	11	74,255,738 (GRCm39)	missense	possibly damaging	0.82
IGL01395:Or1d2	APN	11	74,255,713 (GRCm39)	missense	probably damaging	1.00
IGL01418:Or1d2	APN	11	74,255,810 (GRCm39)	missense	possibly damaging	0.85
IGL01645:Or1d2	APN	11	74,256,359 (GRCm39)	missense	possibly damaging	0.95
IGL02424:Or1d2	APN	11	74,256,299 (GRCm39)	missense	probably benign	0.09
R0206:Or1d2	UTSW	11	74,255,968 (GRCm39)	missense	probably benign	0.00
R0206:Or1d2	UTSW	11	74,255,968 (GRCm39)	missense	probably benign	0.00
R0278:Or1d2	UTSW	11	74,256,028 (GRCm39)	missense	probably damaging	1.00
R0698:Or1d2	UTSW	11	74,255,968 (GRCm39)	missense	probably benign	0.00
R1424:Or1d2	UTSW	11	74,255,780 (GRCm39)	missense	probably benign	0.05
R1549:Or1d2	UTSW	11	74,256,076 (GRCm39)	missense	probably benign	0.00
R1659:Or1d2	UTSW	11	74,255,759 (GRCm39)	missense	probably benign	0.01
R1755:Or1d2	UTSW	11	74,255,819 (GRCm39)	missense	probably damaging	1.00
R2031:Or1d2	UTSW	11	74,255,777 (GRCm39)	missense	probably damaging	1.00
R2185:Or1d2	UTSW	11	74,255,572 (GRCm39)	missense	probably benign
R3620:Or1d2	UTSW	11	74,256,050 (GRCm39)	missense	probably damaging	1.00
R4568:Or1d2	UTSW	11	74,256,035 (GRCm39)	missense	probably damaging	0.99
R4878:Or1d2	UTSW	11	74,255,674 (GRCm39)	missense	probably damaging	1.00
R7779:Or1d2	UTSW	11	74,255,771 (GRCm39)	missense	probably damaging	1.00
R8086:Or1d2	UTSW	11	74,255,780 (GRCm39)	missense	probably benign	0.05
R9155:Or1d2	UTSW	11	74,255,791 (GRCm39)	missense	probably benign	0.03
R9396:Or1d2	UTSW	11	74,256,089 (GRCm39)	missense	probably benign	0.01
R9750:Or1d2	UTSW	11	74,255,858 (GRCm39)	missense	possibly damaging	0.84

Posted On

2015-04-16