Mutagenetix > Incidental Mutation

Incidental Mutation 'R9721:Olfr1469'

730819

Institutional Source

Beutler Lab

Gene Symbol

Olfr1469

Ensembl Gene

ENSMUSG00000063777

Gene Name

olfactory receptor 1469

Synonyms

GA_x6K02T2RE5P-3743369-3744289, MOR202-11

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R9721 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13407849-13414540 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13410970 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 134 (T134S)

Ref Sequence

ENSEMBL: ENSMUSP00000150006 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077538] [ENSMUST00000216910]

AlphaFold

Q8VFW5

Predicted Effect

probably benign
Transcript: ENSMUST00000077538
AA Change: T134S

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000076741
Gene: ENSMUSG00000063777
AA Change: T134S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	2e-47	PFAM
Pfam:7tm_1	42	290	2.3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216910
AA Change: T134S

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,419,283	Y120N	probably benign	Het
2410089E03Rik	A	G	15: 8,225,409	T27A	unknown	Het
4931428F04Rik	A	T	8: 105,283,188	D376E	probably benign	Het
AI314180	A	T	4: 58,850,938	S412T	probably benign	Het
Alox8	T	A	11: 69,197,085	H131L	probably benign	Het
Atp13a1	A	G	8: 69,799,437	E588G	probably damaging	Het
AU040320	G	A	4: 126,839,648	V654M	probably damaging	Het
Bicra	A	G	7: 15,979,176	L982P	probably damaging	Het
Cdh11	A	T	8: 102,679,625	V72E	probably damaging	Het
Cfap65	T	C	1: 74,919,342	T869A	probably benign	Het
Ddx19a	A	G	8: 110,978,475	F338S	probably damaging	Het
Dhrs7c	T	A	11: 67,815,078	V219E	probably damaging	Het
Dhx33	A	G	11: 71,001,598	V115A	probably damaging	Het
Dst	A	G	1: 34,192,785	D3153G	probably benign	Het
Eif5b	T	C	1: 38,037,659		probably null	Het
Ep300	A	G	15: 81,608,315	N284S	unknown	Het
Fam83a	A	G	15: 57,986,117	N19S	probably benign	Het
Fgd5	A	T	6: 91,988,297	T504S	probably benign	Het
Flt4	G	A	11: 49,644,433		probably null	Het
Ggta1	G	T	2: 35,413,406	D91E	probably benign	Het
Gls	A	G	1: 52,212,268	V310A	probably damaging	Het
Gm13178	A	T	4: 144,703,372	V349D	possibly damaging	Het
Gm5414	A	T	15: 101,628,147	C14*	probably null	Het
Gm906	T	C	13: 50,246,652	Y546C	possibly damaging	Het
Gm9887	C	G	12: 69,371,855	A202P	unknown	Het
Ifi214	T	C	1: 173,527,913	T110A	possibly damaging	Het
Il4i1	A	G	7: 44,839,689	R293G	probably benign	Het
Itpr1	A	T	6: 108,406,102	T1464S	probably damaging	Het
Kif18a	T	C	2: 109,293,055	S225P	probably damaging	Het
Kif21a	A	T	15: 90,971,127	I678N	probably damaging	Het
Klf11	T	A	12: 24,660,241	D429E	probably damaging	Het
Kntc1	A	G	5: 123,801,885	T1581A	probably benign	Het
Lama2	T	C	10: 27,467,342	N45D	possibly damaging	Het
Lrrk1	T	C	7: 66,274,875	I1319V	probably damaging	Het
Ltbr	G	A	6: 125,307,385	R365W	probably damaging	Het
Malrd1	C	T	2: 15,696,827	T751I	unknown	Het
Mgat5b	T	C	11: 116,966,769	L363P	probably damaging	Het
Mphosph9	A	T	5: 124,298,675	S535R	possibly damaging	Het
Nckap5	C	T	1: 126,027,280	D512N	probably damaging	Het
Ngef	T	A	1: 87,479,135	D637V	probably damaging	Het
Nup93	T	C	8: 94,303,685	Y391H	probably damaging	Het
Olfr1215	T	C	2: 89,001,716	T191A		Het
Olfr1406	C	A	1: 173,184,348	V29F	probably benign	Het
Pcdhb4	C	A	18: 37,309,852	D738E	possibly damaging	Het
Pfpl	G	C	19: 12,428,933	E183Q	probably damaging	Het
Phactr3	G	A	2: 178,256,250	E86K	probably damaging	Het
Psd	C	T	19: 46,323,189	D351N	probably benign	Het
Pzp	A	G	6: 128,495,191		probably null	Het
Rerg	T	A	6: 137,056,417	K106*	probably null	Het
Samd9l	T	C	6: 3,375,854	E469G	possibly damaging	Het
Smok2b	C	A	17: 13,234,978	Y8*	probably null	Het
Spn	A	G	7: 127,136,265	S357P	probably benign	Het
Tek	T	G	4: 94,804,302	W216G	possibly damaging	Het
Trpm3	A	T	19: 22,889,398	H531L	probably benign	Het
Trpm6	A	G	19: 18,829,972	M1027V	probably benign	Het
Tsc2	G	A	17: 24,599,642	R1408*	probably null	Het
Unc13b	A	G	4: 43,101,869	N155D	probably benign	Het
Vmn1r52	G	A	6: 90,179,026	C104Y	probably damaging	Het
Xylt1	A	T	7: 117,549,020	E273V	probably damaging	Het
Zc3h4	C	A	7: 16,434,845	Q1035K	unknown	Het
Zcchc11	T	A	4: 108,555,581	M1493K	probably benign	Het
Zfp14	A	T	7: 30,039,184	S125R	probably benign	Het

Other mutations in Olfr1469

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01064:Olfr1469	APN	19	13411226	missense	probably benign	0.01
IGL01520:Olfr1469	APN	19	13410750	missense	probably damaging	0.97
IGL01671:Olfr1469	APN	19	13410891	missense	probably benign	0.29
IGL02247:Olfr1469	APN	19	13411467	missense	probably benign	0.01
IGL02297:Olfr1469	APN	19	13411475	missense	probably benign	0.00
IGL02417:Olfr1469	APN	19	13410895	missense	possibly damaging	0.52
IGL02442:Olfr1469	APN	19	13410987	missense	probably benign	0.00
IGL02989:Olfr1469	APN	19	13411486	missense	probably benign
IGL03269:Olfr1469	APN	19	13411428	missense	probably damaging	0.99
IGL02988:Olfr1469	UTSW	19	13411462	missense	possibly damaging	0.75
R0707:Olfr1469	UTSW	19	13411420	missense	probably benign	0.22
R1055:Olfr1469	UTSW	19	13411390	missense	probably benign	0.10
R1102:Olfr1469	UTSW	19	13411090	missense	probably damaging	1.00
R1946:Olfr1469	UTSW	19	13410779	missense	possibly damaging	0.64
R2111:Olfr1469	UTSW	19	13410943	missense	probably damaging	0.99
R4072:Olfr1469	UTSW	19	13410935	missense	possibly damaging	0.49
R4073:Olfr1469	UTSW	19	13410935	missense	possibly damaging	0.49
R4076:Olfr1469	UTSW	19	13410935	missense	possibly damaging	0.49
R4726:Olfr1469	UTSW	19	13411105	missense	probably damaging	1.00
R4939:Olfr1469	UTSW	19	13410855	missense	probably benign	0.10
R5914:Olfr1469	UTSW	19	13410962	missense	probably benign	0.31
R6003:Olfr1469	UTSW	19	13411039	missense	probably benign	0.34
R6743:Olfr1469	UTSW	19	13410593	missense	probably damaging	1.00
R6825:Olfr1469	UTSW	19	13411150	missense	probably benign	0.01
R6826:Olfr1469	UTSW	19	13411088	missense	probably benign	0.05
R6970:Olfr1469	UTSW	19	13411428	missense	probably damaging	0.99
R7558:Olfr1469	UTSW	19	13410991	missense	probably damaging	1.00
R7596:Olfr1469	UTSW	19	13411147	missense	probably benign	0.01
R7923:Olfr1469	UTSW	19	13410818	missense	probably benign	0.17
R8014:Olfr1469	UTSW	19	13410811	missense	not run
R8506:Olfr1469	UTSW	19	13411240	missense	possibly damaging	0.49
R8746:Olfr1469	UTSW	19	13410728	missense	probably benign	0.44
R8803:Olfr1469	UTSW	19	13410673	missense	probably damaging	0.99
R9112:Olfr1469	UTSW	19	13411111	missense	probably benign	0.05
Z1177:Olfr1469	UTSW	19	13410719	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CTGCTGATTGTCCTGGACTC -3'
(R):5'- TCTGTCAGAGCAAGAGAGAACC -3'

Sequencing Primer
(F):5'- GATTGTCCTGGACTCTCGTC -3'
(R):5'- AGAACCATGACTGCTGGAATATC -3'

Posted On

2022-10-06