Mutagenetix > Incidental Mutation

Incidental Mutation 'R0079:Or5d40'

19591

Institutional Source

Beutler Lab

Gene Symbol

Or5d40

Ensembl Gene

ENSMUSG00000061342

Gene Name

olfactory receptor family 5 subfamily D member 40

Synonyms

Olfr1168, MOR174-13, GA_x6K02T2Q125-49669483-49670421

MMRRC Submission

038366-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R0079 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88015223-88016161 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88015698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 159 (Y159F)

Ref Sequence

ENSEMBL: ENSMUSP00000149517 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079599] [ENSMUST00000215996]

AlphaFold

Q7TR25

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079599
AA Change: Y159F

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078549
Gene: ENSMUSG00000061342
AA Change: Y159F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	2e-47	PFAM
Pfam:7tm_1	39	288	1.5e-14	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215996
AA Change: Y159F

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.4%
20x: 90.7%

Validation Efficiency

78% (155/199)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	T	A	12: 17,057,183 (GRCm39)	T105S	possibly damaging	Het
Abca13	G	A	11: 9,243,493 (GRCm39)	M1785I	probably benign	Het
Adamts3	G	C	5: 89,840,912 (GRCm39)	P804A	probably benign	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Ank2	G	T	3: 126,728,264 (GRCm39)	D776E	probably benign	Het
Cep152	T	A	2: 125,460,373 (GRCm39)	K193M	possibly damaging	Het
Cep55	C	T	19: 38,048,769 (GRCm39)	L142F	probably benign	Het
Chd5	A	G	4: 152,470,206 (GRCm39)	Y1884C	probably damaging	Het
Clasp1	T	C	1: 118,471,034 (GRCm39)	L890P	probably damaging	Het
Cul9	C	A	17: 46,848,589 (GRCm39)	E716*	probably null	Het
Cytip	T	A	2: 58,050,006 (GRCm39)	D21V	probably benign	Het
Denr	T	G	5: 124,062,908 (GRCm39)	F137C	probably damaging	Het
Dhrs3	A	T	4: 144,646,618 (GRCm39)	S197C	probably damaging	Het
Egr4	A	T	6: 85,489,751 (GRCm39)	M103K	probably damaging	Het
Eif4enif1	C	T	11: 3,192,676 (GRCm39)	Q835*	probably null	Het
Gckr	A	G	5: 31,463,883 (GRCm39)	I268V	probably benign	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Hpd	T	C	5: 123,319,544 (GRCm39)	Y8C	probably damaging	Het
Il12rb2	A	T	6: 67,338,889 (GRCm39)	F16I	probably benign	Het
Ildr2	A	T	1: 166,135,289 (GRCm39)	Y347F	probably damaging	Het
Kcnv1	T	C	15: 44,976,729 (GRCm39)	D186G	probably damaging	Het
Khdrbs2	A	G	1: 32,558,996 (GRCm39)		probably null	Het
L1cam	G	T	X: 72,913,364 (GRCm39)	P16H	probably damaging	Het
Lyn	A	G	4: 3,746,768 (GRCm39)	H161R	probably damaging	Het
Mctp2	T	A	7: 71,863,864 (GRCm39)		probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mitf	A	C	6: 97,973,401 (GRCm39)	M220L	probably benign	Het
Mrpl21	T	C	19: 3,334,807 (GRCm39)	Y50H	possibly damaging	Het
Myh1	T	A	11: 67,104,237 (GRCm39)	L968Q	probably damaging	Het
Myo3b	A	G	2: 69,925,502 (GRCm39)	K18E	possibly damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nlrp2	T	A	7: 5,330,729 (GRCm39)	T556S	possibly damaging	Het
Nsmf	T	C	2: 24,949,096 (GRCm39)		probably benign	Het
Nsun7	C	T	5: 66,452,856 (GRCm39)	P558S	probably benign	Het
Or10h5	G	A	17: 33,435,079 (GRCm39)	R80C	probably benign	Het
Or1e34	T	G	11: 73,778,563 (GRCm39)	I212L	probably benign	Het
Or56a3	T	C	7: 104,735,135 (GRCm39)	S71P	probably damaging	Het
Phf19	T	C	2: 34,785,966 (GRCm39)	N501S	probably benign	Het
Ranbp17	A	C	11: 33,450,682 (GRCm39)	I85S	probably damaging	Het
Robo1	A	G	16: 72,730,230 (GRCm39)		probably benign	Het
Sntg1	A	G	1: 8,749,286 (GRCm39)		probably benign	Het
Snx15	A	G	19: 6,173,943 (GRCm39)	L58P	probably damaging	Het
Spink5	G	T	18: 44,110,831 (GRCm39)	C134F	probably damaging	Het
Strip2	T	C	6: 29,920,532 (GRCm39)		probably null	Het
Taf1d	C	T	9: 15,221,240 (GRCm39)	A182V	probably benign	Het
Tenm3	A	G	8: 48,796,380 (GRCm39)	V475A	possibly damaging	Het
Tent4b	T	A	8: 88,926,631 (GRCm39)	Y14N	possibly damaging	Het
Tgds	A	T	14: 118,353,647 (GRCm39)	H223Q	possibly damaging	Het
Thoc2	G	T	X: 40,952,985 (GRCm39)	S230Y	probably benign	Het
Tm9sf4	T	A	2: 153,033,065 (GRCm39)	V290E	probably damaging	Het
Trak2	A	T	1: 58,965,883 (GRCm39)	L97Q	probably damaging	Het
Trnau1ap	A	G	4: 132,041,656 (GRCm39)	Y145H	probably damaging	Het
Vars2	A	T	17: 35,970,048 (GRCm39)	D780E	probably damaging	Het
Vmn1r170	T	A	7: 23,305,735 (GRCm39)	S46T	possibly damaging	Het
Vmn1r20	A	T	6: 57,408,777 (GRCm39)	R34S	possibly damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Wdr64	T	C	1: 175,622,668 (GRCm39)	M805T	probably benign	Het
Xdh	G	A	17: 74,198,213 (GRCm39)	R1225C	probably damaging	Het
Zfp341	T	A	2: 154,466,914 (GRCm39)	Y94*	probably null	Het
Zfp641	T	C	15: 98,186,970 (GRCm39)	N218D	probably benign	Het
Zscan22	T	C	7: 12,638,014 (GRCm39)		probably null	Het

Other mutations in Or5d40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01551:Or5d40	APN	2	88,015,629 (GRCm39)	missense	probably benign	0.05
R0302:Or5d40	UTSW	2	88,015,854 (GRCm39)	missense	possibly damaging	0.95
R0606:Or5d40	UTSW	2	88,015,624 (GRCm39)	missense	possibly damaging	0.70
R0973:Or5d40	UTSW	2	88,015,322 (GRCm39)	missense	probably benign	0.07
R0973:Or5d40	UTSW	2	88,015,322 (GRCm39)	missense	probably benign	0.07
R0974:Or5d40	UTSW	2	88,015,322 (GRCm39)	missense	probably benign	0.07
R2140:Or5d40	UTSW	2	88,015,439 (GRCm39)	missense	probably benign	0.14
R2261:Or5d40	UTSW	2	88,015,965 (GRCm39)	missense	probably damaging	1.00
R5235:Or5d40	UTSW	2	88,015,912 (GRCm39)	missense	probably benign
R6608:Or5d40	UTSW	2	88,016,049 (GRCm39)	missense	possibly damaging	0.49
R7323:Or5d40	UTSW	2	88,015,952 (GRCm39)	missense	possibly damaging	0.90
R7476:Or5d40	UTSW	2	88,015,310 (GRCm39)	missense	probably benign
R7951:Or5d40	UTSW	2	88,015,616 (GRCm39)	missense	probably damaging	0.98
R8744:Or5d40	UTSW	2	88,015,723 (GRCm39)	nonsense	probably null
R9751:Or5d40	UTSW	2	88,015,260 (GRCm39)	missense	possibly damaging	0.88
Z1176:Or5d40	UTSW	2	88,015,415 (GRCm39)	missense	probably damaging	1.00
Z1177:Or5d40	UTSW	2	88,015,281 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CATACTATTCAACCCTGCCGAGTCC -3'
(R):5'- GAAGGCATCTTGATGATTGTGACAACG -3'

Sequencing Primer
(F):5'- GTGGGTTTCTCAGAATATCCACAC -3'
(R):5'- CTTGATGATTGTGACAACGATGAAG -3'

Posted On

2013-04-11