Mutagenetix > Incidental Mutation

Incidental Mutation 'R6150:Or7d11'

489197

Institutional Source

Beutler Lab

Gene Symbol

Or7d11

Ensembl Gene

ENSMUSG00000044454

Gene Name

olfactory receptor family 7 subfamily D member 11

Synonyms

GA_x6K02T2PVTD-13795933-13794938, MOR143-2, Olfr867

MMRRC Submission

044297-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R6150 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19965762-19966757 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19966170 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 78 (N78K)

Ref Sequence

ENSEMBL: ENSMUSP00000148667 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060780] [ENSMUST00000212098] [ENSMUST00000216538]

AlphaFold

Q7TRF3

Predicted Effect

probably benign
Transcript: ENSMUST00000060780
AA Change: N196K

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000057469
Gene: ENSMUSG00000044454
AA Change: N196K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.2e-51	PFAM
Pfam:7TM_GPCR_Srsx	35	301	1.6e-6	PFAM
Pfam:7tm_1	41	290	1.1e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212098
AA Change: N78K

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000216538
AA Change: N196K

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (56/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a1	A	G	11: 61,104,334 (GRCm39)	T74A	probably benign	Het
Arhgef1	T	C	7: 24,618,782 (GRCm39)		probably null	Het
Art1	C	G	7: 101,756,294 (GRCm39)	R162G	probably benign	Het
Boll	T	A	1: 55,309,812 (GRCm39)	I280F	possibly damaging	Het
Cep44	T	C	8: 56,992,840 (GRCm39)	E258G	probably benign	Het
Cutc	T	A	19: 43,748,328 (GRCm39)	V75E	probably damaging	Het
Dtx1	T	C	5: 120,819,428 (GRCm39)	K590R	probably damaging	Het
Eps8	A	T	6: 137,494,172 (GRCm39)	D295E	probably damaging	Het
Erc2	C	A	14: 27,863,248 (GRCm39)	S491Y	probably damaging	Het
F2rl3	G	T	8: 73,489,366 (GRCm39)	A198S	probably benign	Het
Fam83b	G	A	9: 76,399,639 (GRCm39)	T488M	probably damaging	Het
Fitm2	A	G	2: 163,311,994 (GRCm39)	L73P	probably damaging	Het
Fxyd1	T	C	7: 30,754,228 (GRCm39)		probably null	Het
Gm17186	T	C	14: 51,918,183 (GRCm39)		noncoding transcript	Het
Hivep3	C	A	4: 119,591,274 (GRCm39)	S94*	probably null	Het
Ifna1	T	A	4: 88,768,349 (GRCm39)	M9K	probably null	Het
Igsf11	G	A	16: 38,843,711 (GRCm39)	E275K	probably damaging	Het
Itga1	G	A	13: 115,104,769 (GRCm39)	L1086F	probably benign	Het
Itgav	T	C	2: 83,606,780 (GRCm39)	S374P	probably benign	Het
Jmy	A	T	13: 93,577,641 (GRCm39)	N842K	probably benign	Het
Kcnh6	G	A	11: 105,911,557 (GRCm39)	V595M	possibly damaging	Het
Kif13b	T	A	14: 64,989,088 (GRCm39)	I823N	probably damaging	Het
Kif26b	T	C	1: 178,743,111 (GRCm39)	L1069P	probably damaging	Het
Kl	T	A	5: 150,912,318 (GRCm39)	M689K	possibly damaging	Het
Kmt2b	G	T	7: 30,287,902 (GRCm39)		probably benign	Het
Map10	G	A	8: 126,398,328 (GRCm39)	D574N	probably damaging	Het
Mau2	A	T	8: 70,472,487 (GRCm39)	H565Q	probably benign	Het
Myb	A	G	10: 21,017,668 (GRCm39)	I641T	probably damaging	Het
Naaladl2	C	A	3: 24,606,214 (GRCm39)	G15V	probably null	Het
Or10k2	G	A	8: 84,267,782 (GRCm39)	C3Y	probably benign	Het
Or3a4	A	C	11: 73,945,145 (GRCm39)	S147A	probably benign	Het
Or6c210	A	G	10: 129,495,803 (GRCm39)	I43V	probably benign	Het
Otog	A	G	7: 45,913,483 (GRCm39)	E772G	possibly damaging	Het
Pla2g4d	T	C	2: 120,100,045 (GRCm39)	D674G	probably damaging	Het
Pmpcb	A	G	5: 21,942,137 (GRCm39)		probably null	Het
Pomk	A	G	8: 26,473,284 (GRCm39)	V223A	possibly damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Serpina1e	A	G	12: 103,917,066 (GRCm39)	V201A	probably benign	Het
Six5	C	T	7: 18,831,446 (GRCm39)	P646S	probably benign	Het
Slc17a9	A	G	2: 180,379,421 (GRCm39)	I298V	probably benign	Het
Slc37a2	G	T	9: 37,149,643 (GRCm39)	T188K	probably damaging	Het
Slc6a11	T	A	6: 114,222,579 (GRCm39)	F525I	probably benign	Het
Slit2	A	T	5: 48,461,516 (GRCm39)	D1504V	probably damaging	Het
Srcap	T	A	7: 127,134,000 (GRCm39)	M907K	probably damaging	Het
Sspo	T	C	6: 48,463,313 (GRCm39)	L3746P	probably benign	Het
Supv3l1	A	T	10: 62,271,501 (GRCm39)	N376K	possibly damaging	Het
Tekt3	A	T	11: 62,985,483 (GRCm39)	T430S	possibly damaging	Het
Tex2	A	T	11: 106,457,906 (GRCm39)	V508D	probably benign	Het
Tmem184c	G	T	8: 78,323,069 (GRCm39)	Q598K	probably benign	Het
Ube2v1	G	A	2: 167,459,874 (GRCm39)	R42*	probably null	Het
Usp45	A	C	4: 21,810,797 (GRCm39)	D331A	probably damaging	Het
Vangl1	T	C	3: 102,091,835 (GRCm39)	T84A	probably damaging	Het
Vgll3	T	A	16: 65,625,064 (GRCm39)		probably null	Het
Vmn1r61	T	A	7: 5,613,678 (GRCm39)	H212L	probably benign	Het
Vmn2r114	A	G	17: 23,510,269 (GRCm39)	V737A	probably benign	Het
Vmn2r35	A	T	7: 7,789,555 (GRCm39)	D727E	probably damaging	Het
Vps18	T	A	2: 119,128,073 (GRCm39)	Y965*	probably null	Het
Zfp521	A	T	18: 13,977,135 (GRCm39)	C1093S	probably damaging	Het
Zfp971	A	C	2: 177,675,247 (GRCm39)	H282P	probably benign	Het

Other mutations in Or7d11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02138:Or7d11	APN	9	19,966,196 (GRCm39)	missense	probably benign	0.01
IGL03130:Or7d11	APN	9	19,966,668 (GRCm39)	missense	probably benign	0.34
R1034:Or7d11	UTSW	9	19,966,661 (GRCm39)	missense	probably benign	0.02
R1238:Or7d11	UTSW	9	19,966,757 (GRCm39)	start codon destroyed	probably benign	0.12
R1412:Or7d11	UTSW	9	19,966,711 (GRCm39)	missense	possibly damaging	0.65
R1625:Or7d11	UTSW	9	19,966,678 (GRCm39)	missense	probably damaging	1.00
R1689:Or7d11	UTSW	9	19,966,422 (GRCm39)	missense	possibly damaging	0.94
R2060:Or7d11	UTSW	9	19,965,892 (GRCm39)	missense	probably damaging	1.00
R2204:Or7d11	UTSW	9	19,966,507 (GRCm39)	missense	possibly damaging	0.74
R2350:Or7d11	UTSW	9	19,966,384 (GRCm39)	missense	probably damaging	1.00
R3901:Or7d11	UTSW	9	19,966,169 (GRCm39)	missense	probably benign	0.00
R5637:Or7d11	UTSW	9	19,966,279 (GRCm39)	missense	possibly damaging	0.80
R6084:Or7d11	UTSW	9	19,966,179 (GRCm39)	missense	possibly damaging	0.71
R6602:Or7d11	UTSW	9	19,966,342 (GRCm39)	missense	probably benign	0.01
R6902:Or7d11	UTSW	9	19,966,670 (GRCm39)	missense	possibly damaging	0.47
R6946:Or7d11	UTSW	9	19,966,670 (GRCm39)	missense	possibly damaging	0.47
R7085:Or7d11	UTSW	9	19,966,232 (GRCm39)	missense	probably benign	0.37
R7678:Or7d11	UTSW	9	19,965,901 (GRCm39)	missense	probably damaging	1.00
R8034:Or7d11	UTSW	9	19,966,301 (GRCm39)	missense	probably benign	0.01
R9194:Or7d11	UTSW	9	19,966,543 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTCTGAGTAGAATGAACCACAGAAG -3'
(R):5'- ATGAACCCTCGACTGTGTGC -3'

Sequencing Primer
(F):5'- GAGCTGAAGTAAACTCCAAATCCTG -3'
(R):5'- GACTGTGTGCACTTCTGATTC -3'

Posted On

2017-10-10