Mutagenetix > Incidental Mutation

Incidental Mutation 'R2273:Or5d41'

242628

Institutional Source

Beutler Lab

Gene Symbol

Or5d41

Ensembl Gene

ENSMUSG00000075133

Gene Name

olfactory receptor family 5 subfamily D member 41

Synonyms

Olfr1170, MOR174-12, GA_x6K02T2Q125-49709783-49708833

MMRRC Submission

040273-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R2273 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88054424-88055374 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88055167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 70 (F70L)

Ref Sequence

ENSEMBL: ENSMUSP00000150142 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099831] [ENSMUST00000214386]

AlphaFold

Q8VFG1

Predicted Effect

probably benign
Transcript: ENSMUST00000099831
AA Change: F70L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000097419
Gene: ENSMUSG00000075133
AA Change: F70L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	310	1.2e-49	PFAM
Pfam:7tm_1	43	292	4.4e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214386
AA Change: F70L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	T	11: 99,728,667 (GRCm39)	C59S	possibly damaging	Het
Abca5	A	T	11: 110,166,107 (GRCm39)	N1556K	possibly damaging	Het
Ackr1	T	C	1: 173,160,052 (GRCm39)	N156D	probably benign	Het
Ank3	T	A	10: 69,786,772 (GRCm39)		probably null	Het
Arhgef7	T	A	8: 11,865,010 (GRCm39)	F374Y	possibly damaging	Het
Atp11b	A	G	3: 35,882,762 (GRCm39)	I606V	probably benign	Het
Atp6v1h	T	A	1: 5,187,699 (GRCm39)	D222E	probably damaging	Het
Bco1	G	A	8: 117,835,522 (GRCm39)		probably null	Het
Cacna1g	T	A	11: 94,306,762 (GRCm39)	E1842V	probably damaging	Het
Calhm3	T	A	19: 47,145,986 (GRCm39)	Q73L	probably damaging	Het
Cdc42bpb	C	T	12: 111,268,601 (GRCm39)	E1200K	probably damaging	Het
Cdr2	A	T	7: 120,557,732 (GRCm39)	H264Q	possibly damaging	Het
Cecr2	C	T	6: 120,733,702 (GRCm39)	S563L	probably benign	Het
Cfh	C	T	1: 140,030,563 (GRCm39)	V824M	probably damaging	Het
Ciapin1	A	T	8: 95,558,415 (GRCm39)	V99E	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Cpxm2	TGCAGCAGCAGCAGCAGCAG	TGCAGCAGCAGCAGCAG	7: 131,661,581 (GRCm39)		probably benign	Het
Crim1	T	C	17: 78,662,608 (GRCm39)		probably null	Het
D7Ertd443e	A	G	7: 133,871,930 (GRCm39)	S644P	probably damaging	Het
Dnlz	A	T	2: 26,241,483 (GRCm39)	C82S	probably damaging	Het
F11	T	C	8: 45,705,184 (GRCm39)	D119G	possibly damaging	Het
Fat3	T	C	9: 15,826,558 (GRCm39)	T4465A	probably benign	Het
Fdxacb1	A	G	9: 50,683,321 (GRCm39)	E428G	probably benign	Het
Fn1	C	T	1: 71,653,102 (GRCm39)	G1296R	probably null	Het
Gm11568	A	G	11: 99,749,070 (GRCm39)	S92G	unknown	Het
Gpr158	A	T	2: 21,831,674 (GRCm39)	M925L	probably benign	Het
Hivep2	T	C	10: 14,008,187 (GRCm39)	M1595T	probably benign	Het
Hoxd1	A	G	2: 74,594,501 (GRCm39)	K252R	probably damaging	Het
Ift88	A	G	14: 57,726,393 (GRCm39)	K684E	possibly damaging	Het
Iqck	G	A	7: 118,498,880 (GRCm39)	D173N	possibly damaging	Het
Kcnc1	A	G	7: 46,077,226 (GRCm39)	N343D	probably damaging	Het
Kifap3	T	A	1: 163,696,327 (GRCm39)	V652D	possibly damaging	Het
Lrig1	A	T	6: 94,585,124 (GRCm39)	D840E	probably damaging	Het
Lrrc7	A	G	3: 157,892,696 (GRCm39)	S318P	probably damaging	Het
Map1b	A	C	13: 99,568,592 (GRCm39)	D1376E	unknown	Het
Marchf1	T	A	8: 66,840,151 (GRCm39)	N311K	probably benign	Het
Mier2	T	C	10: 79,380,368 (GRCm39)	I321V	probably damaging	Het
Mrc1	G	A	2: 14,330,183 (GRCm39)	R1264Q	probably damaging	Het
Nrarp	T	C	2: 25,071,421 (GRCm39)	V100A	possibly damaging	Het
Nt5c1a	T	C	4: 123,109,873 (GRCm39)	F324S	probably damaging	Het
Odad2	C	A	18: 7,223,676 (GRCm39)	G456W	probably benign	Het
Or2t44	T	C	11: 58,677,492 (GRCm39)	V144A	probably benign	Het
Or5g29	G	T	2: 85,420,932 (GRCm39)	G16V	probably damaging	Het
Or6c35	T	C	10: 129,169,326 (GRCm39)	I192T	probably benign	Het
Pcdhb4	C	T	18: 37,441,979 (GRCm39)	L430F	probably damaging	Het
Ptpn2	T	G	18: 67,810,872 (GRCm39)	M256L	probably damaging	Het
Rph3a	C	T	5: 121,111,367 (GRCm39)	R71H	probably damaging	Het
Rrm2b	T	A	15: 37,945,295 (GRCm39)	D148V	possibly damaging	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc12a3	T	A	8: 95,059,915 (GRCm39)	I187N	possibly damaging	Het
Slc46a1	T	G	11: 78,357,249 (GRCm39)	S101A	probably benign	Het
Sned1	T	A	1: 93,209,364 (GRCm39)		probably null	Het
Sult1d1	T	G	5: 87,703,887 (GRCm39)	N266T	probably damaging	Het
Tjp2	G	T	19: 24,090,171 (GRCm39)	H624N	probably benign	Het
Tmcc3	G	A	10: 94,414,777 (GRCm39)	V160I	probably damaging	Het
Tsr1	A	T	11: 74,795,653 (GRCm39)		probably null	Het
Tyrp1	A	T	4: 80,755,771 (GRCm39)	E180V	probably damaging	Het
Ubr3	T	C	2: 69,846,685 (GRCm39)	V1636A	probably benign	Het
Usp1	T	C	4: 98,818,079 (GRCm39)	L139P	probably damaging	Het
Vldlr	A	T	19: 27,225,415 (GRCm39)	T859S	probably damaging	Het
Vmn1r232	A	G	17: 21,134,465 (GRCm39)	L45P	probably benign	Het
Vmn2r94	T	A	17: 18,477,593 (GRCm39)	M273L	probably benign	Het
Zc3h6	T	C	2: 128,856,629 (GRCm39)	Y570H	probably benign	Het
Zhx2	A	G	15: 57,686,565 (GRCm39)	S645G	probably benign	Het

Other mutations in Or5d41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0184:Or5d41	UTSW	2	88,055,124 (GRCm39)	nonsense	probably null
R0496:Or5d41	UTSW	2	88,054,499 (GRCm39)	nonsense	probably null
R0558:Or5d41	UTSW	2	88,054,818 (GRCm39)	missense	possibly damaging	0.50
R2067:Or5d41	UTSW	2	88,054,818 (GRCm39)	missense	possibly damaging	0.50
R2111:Or5d41	UTSW	2	88,054,818 (GRCm39)	missense	possibly damaging	0.50
R2274:Or5d41	UTSW	2	88,055,167 (GRCm39)	missense	probably benign	0.03
R2275:Or5d41	UTSW	2	88,055,167 (GRCm39)	missense	probably benign	0.03
R5924:Or5d41	UTSW	2	88,054,891 (GRCm39)	missense	probably benign
R5942:Or5d41	UTSW	2	88,054,916 (GRCm39)	missense	probably benign	0.03
R6487:Or5d41	UTSW	2	88,054,870 (GRCm39)	missense	possibly damaging	0.80
R7399:Or5d41	UTSW	2	88,055,366 (GRCm39)	nonsense	probably null
R7776:Or5d41	UTSW	2	88,054,429 (GRCm39)	missense	probably damaging	0.99
R7961:Or5d41	UTSW	2	88,055,033 (GRCm39)	missense	possibly damaging	0.91
X0022:Or5d41	UTSW	2	88,055,325 (GRCm39)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- GCATCACAACTGTGTAGAGTAGGG -3'
(R):5'- ATGAACCAGACTTCTGCGAC -3'

Sequencing Primer
(F):5'- CACAACTGTGTAGAGTAGGGGATTAC -3'
(R):5'- GCGACCACATTCATCTTGGTTGG -3'

Posted On

2014-10-16