Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02424:Or1d2'

292818

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: 0.265) question?

Stock #

IGL02424

Quality Score

Status

Chromosome

Chromosomal Location

74255497-74256435 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74256299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 268 (M268K)

Ref Sequence

ENSEMBL: ENSMUSP00000149922 (fasta)

Gene Model

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

AlphaFold

Q7TRW7

Predicted Effect

probably benign
Transcript: ENSMUST00000077794
AA Change: M268K

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000076967
Gene: ENSMUSG00000058275
AA Change: M268K

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 benign
Transcript: ENSMUST00000216362
AA Change: M268K

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	A	G	3: 137,880,466 (GRCm39)		probably benign	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
Abl1	G	A	2: 31,691,144 (GRCm39)	V888I	probably benign	Het
Adcy9	G	T	16: 4,106,461 (GRCm39)	N884K	probably damaging	Het
Alyref	T	C	11: 120,486,133 (GRCm39)	N176D	probably benign	Het
Amtn	T	C	5: 88,529,456 (GRCm39)		probably benign	Het
Baz1b	T	C	5: 135,246,833 (GRCm39)	Y761H	probably damaging	Het
Cckar	T	A	5: 53,863,770 (GRCm39)	T64S	possibly damaging	Het
Csmd1	A	G	8: 16,142,340 (GRCm39)	F1521S	probably benign	Het
Cyp11b1	T	C	15: 74,711,085 (GRCm39)	T198A	probably benign	Het
Def8	G	T	8: 124,186,387 (GRCm39)	L399F	possibly damaging	Het
Epha7	A	T	4: 28,948,790 (GRCm39)		probably benign	Het
Ets1	T	A	9: 32,665,589 (GRCm39)	Y181*	probably null	Het
Fas	A	T	19: 34,304,434 (GRCm39)	M232L	probably damaging	Het
Fkbp10	T	A	11: 100,306,782 (GRCm39)	V37E	probably damaging	Het
Galnt3	A	G	2: 65,926,132 (GRCm39)		probably null	Het
Gdap1	T	C	1: 17,231,402 (GRCm39)	V249A	probably damaging	Het
Gm5356	T	A	8: 89,913,594 (GRCm39)		noncoding transcript	Het
Gm7732	A	G	17: 21,349,709 (GRCm39)		noncoding transcript	Het
Gpr3	G	T	4: 132,938,405 (GRCm39)	A89E	probably damaging	Het
Kat2a	A	G	11: 100,601,973 (GRCm39)		probably null	Het
Kit	T	G	5: 75,799,766 (GRCm39)	D499E	probably benign	Het
Kmt2a	C	T	9: 44,735,932 (GRCm39)		probably benign	Het
Med12l	T	C	3: 59,000,143 (GRCm39)	L666P	probably benign	Het
Mmp2	T	G	8: 93,562,635 (GRCm39)	C291G	probably damaging	Het
Neb	A	G	2: 52,154,203 (GRCm39)	Y2303H	probably damaging	Het
Or14a259	C	A	7: 86,012,688 (GRCm39)	V286L	probably benign	Het
Or1o2	T	C	17: 37,543,263 (GRCm39)		probably benign	Het
Pde1b	T	A	15: 103,436,646 (GRCm39)		probably benign	Het
Prl7a2	A	C	13: 27,851,953 (GRCm39)	C9G	probably null	Het
Rabl6	A	G	2: 25,477,469 (GRCm39)	V327A	probably benign	Het
Robo2	T	A	16: 73,770,189 (GRCm39)	I516F	possibly damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Slc35a3	G	A	3: 116,488,267 (GRCm39)	T140I	possibly damaging	Het
Slc38a7	A	G	8: 96,568,200 (GRCm39)	V395A	probably damaging	Het
Stag3	T	A	5: 138,280,247 (GRCm39)	C37*	probably null	Het
Stag3	T	C	5: 138,289,628 (GRCm39)	L266P	probably damaging	Het
Strn	A	G	17: 78,991,780 (GRCm39)	S180P	probably damaging	Het
Sulf1	A	G	1: 12,867,064 (GRCm39)	T83A	probably benign	Het
Vmn1r69	T	C	7: 10,314,585 (GRCm39)	I49V	probably benign	Het
Vrk2	G	A	11: 26,426,564 (GRCm39)	P387L	probably benign	Het
Xdh	A	T	17: 74,233,565 (GRCm39)	M183K	probably benign	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
IGL02421:Or1d2	APN	11	74,256,017 (GRCm39)	missense	probably damaging	1.00
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