Mutagenetix > Incidental Mutation

Incidental Mutation 'R0973:Or5d40'

82920

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

039102-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R0973 (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 88015322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 34 (T34S)

Ref Sequence

ENSEMBL: ENSMUSP00000149517 (fasta)

Gene Model

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

AlphaFold

Q7TR25

Predicted Effect

probably benign
Transcript: ENSMUST00000079599
AA Change: T34S

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000078549
Gene: ENSMUSG00000061342
AA Change: T34S

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

probably benign
Transcript: ENSMUST00000215996
AA Change: T34S

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.4%
20x: 92.6%

Validation Efficiency

97% (70/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	A	18: 70,600,997 (GRCm39)		probably null	Het
Adam18	T	C	8: 25,137,869 (GRCm39)	T324A	probably benign	Het
AI429214	A	G	8: 37,461,473 (GRCm39)	Q207R	probably benign	Het
Asic5	C	T	3: 81,915,755 (GRCm39)		probably benign	Het
Atp13a1	T	C	8: 70,254,794 (GRCm39)		probably null	Het
Atp6v0a1	T	A	11: 100,946,317 (GRCm39)	L770*	probably null	Het
B3gnt5	T	A	16: 19,588,760 (GRCm39)	D326E	probably damaging	Het
Btbd9	T	A	17: 30,518,607 (GRCm39)	D451V	probably damaging	Het
Cd46	T	C	1: 194,724,300 (GRCm39)	*366W	probably null	Het
Cdcp3	T	C	7: 130,839,911 (GRCm39)	L611P	probably damaging	Het
Cenpc1	A	T	5: 86,185,767 (GRCm39)	V248E	probably damaging	Het
Cep152	A	G	2: 125,436,819 (GRCm39)	S574P	probably benign	Het
Cep250	A	G	2: 155,806,209 (GRCm39)		probably benign	Het
Chd2	A	G	7: 73,128,412 (GRCm39)	S858P	probably damaging	Het
Cxcl1	A	T	5: 91,039,626 (GRCm39)	K85*	probably null	Het
Daam1	A	C	12: 71,962,558 (GRCm39)	K90T	unknown	Het
Dip2c	G	A	13: 9,626,944 (GRCm39)	A632T	probably damaging	Het
Dmtf1	T	A	5: 9,177,987 (GRCm39)	I391F	possibly damaging	Het
Dnah14	T	C	1: 181,579,710 (GRCm39)	V3081A	probably damaging	Het
Dnah9	A	T	11: 65,896,663 (GRCm39)		probably null	Het
Efemp1	A	G	11: 28,804,538 (GRCm39)	E22G	probably damaging	Het
Ephb6	A	G	6: 41,591,038 (GRCm39)	D65G	probably damaging	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Fsip2	A	T	2: 82,807,436 (GRCm39)	T1252S	probably benign	Het
Gm12500	T	C	3: 107,993,792 (GRCm39)		probably null	Het
Gm6327	T	C	16: 12,578,977 (GRCm39)		noncoding transcript	Het
Golga4	T	C	9: 118,366,341 (GRCm39)	I365T	probably damaging	Het
Gp2	A	T	7: 119,053,766 (GRCm39)	L65Q	probably damaging	Het
Ice1	C	A	13: 70,750,546 (GRCm39)	V1847L	probably benign	Het
Ift172	T	C	5: 31,415,262 (GRCm39)		probably benign	Het
Kbtbd7	A	G	14: 79,664,870 (GRCm39)	E234G	possibly damaging	Het
Khsrp	T	C	17: 57,332,576 (GRCm39)	T235A	probably benign	Het
Klk13	T	C	7: 43,370,582 (GRCm39)		probably null	Het
Lgals8	A	T	13: 12,466,276 (GRCm39)		probably benign	Het
Lrfn5	G	A	12: 61,890,223 (GRCm39)	G504D	probably damaging	Het
Map6	G	A	7: 98,985,950 (GRCm39)	G821D	possibly damaging	Het
Mcpt8	T	C	14: 56,321,257 (GRCm39)		probably benign	Het
Myh13	T	A	11: 67,223,346 (GRCm39)	I222N	probably damaging	Het
Myh7b	G	A	2: 155,462,347 (GRCm39)	C350Y	probably benign	Het
Naa25	T	C	5: 121,576,779 (GRCm39)		probably benign	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Olfm3	C	A	3: 114,895,635 (GRCm39)	S172R	probably benign	Het
Or13e8	A	G	4: 43,696,706 (GRCm39)	S156P	probably damaging	Het
Or1j14	A	G	2: 36,418,020 (GRCm39)	I199V	probably benign	Het
Or4c1	A	T	2: 89,133,528 (GRCm39)	I136N	probably damaging	Het
Pacs1	A	T	19: 5,193,857 (GRCm39)	D557E	probably damaging	Het
Phactr2	T	C	10: 13,122,883 (GRCm39)	D343G	possibly damaging	Het
Pkd2l2	A	G	18: 34,561,305 (GRCm39)	T438A	probably damaging	Het
Pld2	T	C	11: 70,447,907 (GRCm39)	W857R	probably damaging	Het
Pm20d2	T	A	4: 33,174,734 (GRCm39)		probably benign	Het
Rilpl1	A	G	5: 124,639,951 (GRCm39)	I122T	possibly damaging	Het
Rilpl1	A	G	5: 124,639,934 (GRCm39)	S156P	probably benign	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Saxo2	A	G	7: 82,284,078 (GRCm39)	V260A	probably benign	Het
Skint1	T	G	4: 111,885,412 (GRCm39)		probably benign	Het
Slc33a1	A	G	3: 63,850,725 (GRCm39)	F533S	probably benign	Het
Slc38a4	C	T	15: 96,903,739 (GRCm39)	V421M	probably benign	Het
Snx14	A	G	9: 88,282,774 (GRCm39)		probably null	Het
Spag7	A	G	11: 70,560,008 (GRCm39)		probably benign	Het
Sri	A	T	5: 8,109,381 (GRCm39)	Q55L	probably damaging	Het
Tm9sf1	T	C	14: 55,880,392 (GRCm39)	T2A	possibly damaging	Het
Tmco5	A	G	2: 116,713,699 (GRCm39)	T122A	probably benign	Het
Tmem59l	G	A	8: 70,938,710 (GRCm39)	P124S	possibly damaging	Het
Trpv6	T	A	6: 41,602,122 (GRCm39)	T396S	probably benign	Het
Usp24	T	A	4: 106,228,276 (GRCm39)	Y780*	probably null	Het
Usp24	A	G	4: 106,270,875 (GRCm39)		probably null	Het
Utp25	A	T	1: 192,797,011 (GRCm39)	N573K	probably damaging	Het
Vmn2r53	A	G	7: 12,335,319 (GRCm39)	F114L	probably damaging	Het
Zfp626	G	A	7: 27,517,907 (GRCm39)	R296H	probably damaging	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
R0079:Or5d40	UTSW	2	88,015,698 (GRCm39)	missense	possibly damaging	0.94
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
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'- TCTCTGTAATCACACATGCACAGCC -3'

Sequencing Primer
(F):5'- GCCGAGTCCTACTTACTAAATTCC -3'
(R):5'- CTGTGTCATGCAACCATTTAAAG -3'

Posted On

2013-11-08