Mutagenetix > Incidental Mutation

Incidental Mutation 'R3161:Or6d13'

258160

Institutional Source

Beutler Lab

Gene Symbol

Or6d13

Ensembl Gene

ENSMUSG00000081649

Gene Name

olfactory receptor family 6 subfamily D member 13

Synonyms

GA_x54KRFPKN04-58174409-58175392, Olfr213, MOR119-3

MMRRC Submission

040612-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R3161 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116517416-116518399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 116517807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 131 (A131V)

Ref Sequence

ENSEMBL: ENSMUSP00000151916 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121958] [ENSMUST00000220008]

AlphaFold

Q7TS32

Predicted Effect

probably damaging
Transcript: ENSMUST00000121958
AA Change: A131V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112931
Gene: ENSMUSG00000081649
AA Change: A131V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	314	4e-45	PFAM
Pfam:7tm_1	47	296	5.4e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000220008
AA Change: A131V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

98% (54/55)

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
0610040J01Rik	T	C	5: 64,053,833 (GRCm39)		probably benign	Het
1700066M21Rik	T	A	1: 57,422,234 (GRCm39)	N203K	probably benign	Het
Adcy9	A	G	16: 4,129,452 (GRCm39)	L715P	probably damaging	Het
Adgrl2	G	A	3: 148,523,187 (GRCm39)	L1354F	probably damaging	Het
Amer2	A	G	14: 60,616,000 (GRCm39)	D65G	probably damaging	Het
Aox1	G	T	1: 58,343,597 (GRCm39)	V427L	possibly damaging	Het
Atad2b	C	A	12: 4,989,689 (GRCm39)	N133K	possibly damaging	Het
Bptf	A	T	11: 106,965,302 (GRCm39)	D1182E	probably damaging	Het
Camk1g	T	C	1: 193,042,115 (GRCm39)	T45A	possibly damaging	Het
Caps2	C	A	10: 112,018,391 (GRCm39)	Y180*	probably null	Het
Cfap54	T	A	10: 92,881,140 (GRCm39)	K349N	probably damaging	Het
Chct1	A	G	11: 85,064,110 (GRCm39)	S84G	probably damaging	Het
Ciz1	A	G	2: 32,260,075 (GRCm39)	D207G	probably benign	Het
Copa	T	A	1: 171,918,800 (GRCm39)	C127S	probably damaging	Het
Crabp2	A	T	3: 87,859,484 (GRCm39)	K45*	probably null	Het
Daam1	C	A	12: 71,993,872 (GRCm39)	T425K	unknown	Het
Dapk2	T	G	9: 66,161,893 (GRCm39)	V267G	probably damaging	Het
Disp1	T	C	1: 182,868,806 (GRCm39)	K1205E	probably benign	Het
Dlg4	G	C	11: 69,908,051 (GRCm39)	R4T	probably damaging	Het
Fbf1	A	G	11: 116,039,046 (GRCm39)	I743T	probably damaging	Het
Fen1	A	G	19: 10,177,655 (GRCm39)	L263P	probably damaging	Het
G6pc2	A	G	2: 69,050,456 (GRCm39)	N27S	probably damaging	Het
Garnl3	A	T	2: 32,924,723 (GRCm39)	N246K	probably damaging	Het
Gm7337	A	C	5: 87,999,416 (GRCm39)		noncoding transcript	Het
Gpr152	A	G	19: 4,192,713 (GRCm39)	T85A	probably benign	Het
Hnrnpu	T	C	1: 178,158,690 (GRCm39)		probably benign	Het
Ighv1-81	C	G	12: 115,883,949 (GRCm39)	E101Q	probably benign	Het
Ipo9	T	C	1: 135,337,214 (GRCm39)	T174A	probably benign	Het
Myo9a	C	T	9: 59,739,598 (GRCm39)		probably benign	Het
Nup155	G	T	15: 8,177,867 (GRCm39)	R1083S	possibly damaging	Het
Or11g24	T	A	14: 50,662,488 (GRCm39)	C171S	probably damaging	Het
Or5an1c	T	C	19: 12,218,860 (GRCm39)	H55R	probably benign	Het
Or7a35	C	A	10: 78,853,438 (GRCm39)	T94N	probably benign	Het
Phyh	T	A	2: 4,942,482 (GRCm39)		probably benign	Het
Pkp4	G	T	2: 59,138,449 (GRCm39)	R233M	probably damaging	Het
Plcb1	A	T	2: 135,177,402 (GRCm39)	Q578L	probably benign	Het
Ppil3	A	T	1: 58,473,573 (GRCm39)	N92K	probably benign	Het
Prokr1	C	T	6: 87,565,413 (GRCm39)	R144H	probably damaging	Het
Psap	T	C	10: 60,113,575 (GRCm39)	L4P	possibly damaging	Het
Rai14	T	C	15: 10,633,250 (GRCm39)	T47A	possibly damaging	Het
Rps2	G	T	17: 24,939,952 (GRCm39)	A129S	probably benign	Het
Sult2a4	T	C	7: 13,723,396 (GRCm39)	T40A	probably benign	Het
Tacr2	A	G	10: 62,101,024 (GRCm39)	D378G	probably benign	Het
Topaz1	T	C	9: 122,578,446 (GRCm39)	I452T	probably benign	Het
Ttn	A	G	2: 76,663,581 (GRCm39)		probably benign	Het
Vmn2r115	T	A	17: 23,575,998 (GRCm39)	M532K	possibly damaging	Het
Vmn2r117	A	G	17: 23,679,352 (GRCm39)	L624P	probably damaging	Het
Vstm5	T	G	9: 15,168,594 (GRCm39)	S53A	probably benign	Het
Wipf1	C	T	2: 73,265,293 (GRCm39)	E437K	probably damaging	Het
Wls	G	T	3: 159,603,073 (GRCm39)	C162F	probably damaging	Het
Yeats2	T	C	16: 20,012,395 (GRCm39)	V531A	probably damaging	Het
Zfp868	A	G	8: 70,064,736 (GRCm39)	S200P	probably benign	Het

Other mutations in Or6d13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Or6d13	APN	6	116,517,968 (GRCm39)	missense	probably damaging	1.00
IGL02671:Or6d13	APN	6	116,518,104 (GRCm39)	missense	possibly damaging	0.50
IGL03107:Or6d13	APN	6	116,517,900 (GRCm39)	missense	possibly damaging	0.82
R0041:Or6d13	UTSW	6	116,518,295 (GRCm39)	missense	possibly damaging	0.55
R0426:Or6d13	UTSW	6	116,517,446 (GRCm39)	missense	probably damaging	1.00
R0627:Or6d13	UTSW	6	116,517,949 (GRCm39)	missense	possibly damaging	0.56
R0829:Or6d13	UTSW	6	116,518,226 (GRCm39)	missense	probably benign	0.01
R2111:Or6d13	UTSW	6	116,517,611 (GRCm39)	missense	possibly damaging	0.95
R2112:Or6d13	UTSW	6	116,517,611 (GRCm39)	missense	possibly damaging	0.95
R2120:Or6d13	UTSW	6	116,517,416 (GRCm39)	start codon destroyed	probably null	0.04
R3700:Or6d13	UTSW	6	116,517,489 (GRCm39)	missense	probably benign	0.10
R4710:Or6d13	UTSW	6	116,517,611 (GRCm39)	missense	possibly damaging	0.95
R5244:Or6d13	UTSW	6	116,518,187 (GRCm39)	missense	probably damaging	1.00
R5859:Or6d13	UTSW	6	116,517,861 (GRCm39)	missense	probably damaging	1.00
R6273:Or6d13	UTSW	6	116,518,277 (GRCm39)	missense	possibly damaging	0.74
R6505:Or6d13	UTSW	6	116,517,561 (GRCm39)	missense	probably benign	0.01
R7350:Or6d13	UTSW	6	116,517,495 (GRCm39)	missense	probably benign	0.28
R7380:Or6d13	UTSW	6	116,517,894 (GRCm39)	missense	probably benign	0.03
R7474:Or6d13	UTSW	6	116,517,999 (GRCm39)	missense	probably damaging	0.99
R8054:Or6d13	UTSW	6	116,517,960 (GRCm39)	missense	probably damaging	1.00
R8476:Or6d13	UTSW	6	116,517,507 (GRCm39)	missense	probably benign
R8862:Or6d13	UTSW	6	116,518,186 (GRCm39)	missense	probably benign	0.03
R9082:Or6d13	UTSW	6	116,517,969 (GRCm39)	missense	probably damaging	1.00
R9100:Or6d13	UTSW	6	116,517,990 (GRCm39)	missense	possibly damaging	0.93
R9124:Or6d13	UTSW	6	116,517,416 (GRCm39)	start codon destroyed	probably null	0.04
R9151:Or6d13	UTSW	6	116,517,990 (GRCm39)	missense	possibly damaging	0.93
R9321:Or6d13	UTSW	6	116,518,370 (GRCm39)	missense	probably benign
R9404:Or6d13	UTSW	6	116,517,708 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATTGCAGACACCCATGTACTTC -3'
(R):5'- ACAGGAGAGATTTGCCAGTG -3'

Sequencing Primer
(F):5'- AGACACCCATGTACTTCTTCCTCAG -3'
(R):5'- GCCAGTGGCCCAAAATCACAG -3'

Posted On

2015-01-23