Mutagenetix > Incidental Mutation

Incidental Mutation 'R0448:Or4k45'

39427

Institutional Source

Beutler Lab

Gene Symbol

Or4k45

Ensembl Gene

ENSMUSG00000108919

Gene Name

olfactory receptor family 4 subfamily K member 45

Synonyms

MOR248-10, GA_x6K02T2Q125-72616944-72616006, Olfr1295

MMRRC Submission

038648-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R0448 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111394849-111395787 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111395559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 77 (I77F)

Ref Sequence

ENSEMBL: ENSMUSP00000151314 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000207283] [ENSMUST00000207786] [ENSMUST00000217772]

AlphaFold

Q8VF48

Predicted Effect

probably benign
Transcript: ENSMUST00000099613
AA Change: I77F

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097208
Gene: ENSMUSG00000074959
AA Change: I77F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	3.8e-49	PFAM
Pfam:7tm_1	41	287	6.2e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207283
AA Change: I77F

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000207786
AA Change: I77F

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209152
AA Change: I77F

Predicted Effect

probably benign
Transcript: ENSMUST00000217772
AA Change: I77F

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.1%

Validation Efficiency

100% (74/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	A	16: 20,218,687 (GRCm39)	R232C	probably damaging	Het
Adam9	A	G	8: 25,454,926 (GRCm39)	S732P	probably damaging	Het
Add2	G	A	6: 86,069,901 (GRCm39)	V140I	probably benign	Het
Ahi1	G	A	10: 20,847,974 (GRCm39)	G461S	probably damaging	Het
Aoc1l2	A	T	6: 48,909,991 (GRCm39)	S643C	probably damaging	Het
Arhgef7	A	G	8: 11,869,659 (GRCm39)	T432A	possibly damaging	Het
Arsi	T	C	18: 61,050,374 (GRCm39)	I419T	probably damaging	Het
Brca1	G	A	11: 101,399,047 (GRCm39)	P1515L	possibly damaging	Het
Brcc3	T	A	X: 74,493,647 (GRCm39)	L222*	probably null	Het
Brpf3	A	T	17: 29,025,010 (GRCm39)	T28S	probably benign	Het
Cdc20b	T	A	13: 113,215,191 (GRCm39)	V253E	probably damaging	Het
Cnot6l	T	A	5: 96,227,905 (GRCm39)	S443C	probably benign	Het
Copg1	G	A	6: 87,881,908 (GRCm39)	A587T	probably benign	Het
Crebrf	A	G	17: 26,962,076 (GRCm39)	D391G	probably benign	Het
Crocc	A	T	4: 140,769,502 (GRCm39)	D283E	probably damaging	Het
Cryga	T	C	1: 65,142,318 (GRCm39)	N25S	probably benign	Het
Csnk1g1	T	C	9: 65,888,230 (GRCm39)	F90L	possibly damaging	Het
Cyp2j6	A	G	4: 96,433,965 (GRCm39)	V115A	probably benign	Het
Cyp3a11	T	C	5: 145,799,204 (GRCm39)	I328V	probably benign	Het
Dchs1	C	A	7: 105,415,134 (GRCm39)	E683D	probably benign	Het
Dnah9	T	C	11: 65,809,539 (GRCm39)		probably benign	Het
Dqx1	T	C	6: 83,037,326 (GRCm39)	S330P	probably damaging	Het
Epg5	A	G	18: 78,066,580 (GRCm39)	Y2160C	probably damaging	Het
Ercc5	T	C	1: 44,213,100 (GRCm39)	L742P	probably damaging	Het
Fcgbpl1	T	C	7: 27,839,660 (GRCm39)	I491T	probably benign	Het
Flt1	C	T	5: 147,503,204 (GRCm39)		probably benign	Het
Grip2	A	G	6: 91,756,194 (GRCm39)	S498P	probably damaging	Het
H2-T22	A	G	17: 36,353,278 (GRCm39)	L14P	possibly damaging	Het
Hephl1	C	T	9: 14,988,222 (GRCm39)	G629S	probably damaging	Het
Hsdl2	T	A	4: 59,606,523 (GRCm39)	M162K	unknown	Het
Kcnh8	C	A	17: 53,284,648 (GRCm39)		probably null	Het
Krt76	T	C	15: 101,799,082 (GRCm39)	Q201R	probably damaging	Het
Lrpprc	A	T	17: 85,078,322 (GRCm39)	Y319N	probably benign	Het
Lrrk2	T	G	15: 91,593,508 (GRCm39)	I489R	probably damaging	Het
Mboat1	G	T	13: 30,386,393 (GRCm39)	D136Y	probably damaging	Het
Mcmdc2	T	C	1: 10,010,767 (GRCm39)	*682Q	probably null	Het
Msx2	C	A	13: 53,622,431 (GRCm39)	R193L	probably damaging	Het
Nfatc4	T	G	14: 56,069,111 (GRCm39)	D625E	possibly damaging	Het
Nup153	T	C	13: 46,870,657 (GRCm39)	E86G	probably benign	Het
Or2g7	G	T	17: 38,378,563 (GRCm39)	R167L	probably benign	Het
Pard3b	T	C	1: 62,205,628 (GRCm39)	L474P	probably damaging	Het
Pate11	T	A	9: 36,388,412 (GRCm39)	M79K	probably benign	Het
Pggt1b	A	T	18: 46,396,039 (GRCm39)		probably benign	Het
Pik3r2	A	G	8: 71,224,688 (GRCm39)		probably benign	Het
Prr14	A	G	7: 127,073,898 (GRCm39)		probably benign	Het
Rcbtb2	T	C	14: 73,415,869 (GRCm39)		probably benign	Het
Rufy2	G	A	10: 62,840,515 (GRCm39)	D429N	probably benign	Het
S1pr5	T	A	9: 21,155,503 (GRCm39)	T308S	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Serpina12	A	G	12: 104,004,354 (GRCm39)	S93P	probably benign	Het
Serpinb1b	T	G	13: 33,273,675 (GRCm39)	H123Q	probably benign	Het
Sftpc	C	T	14: 70,760,120 (GRCm39)	V46I	probably benign	Het
Skint8	T	A	4: 111,794,087 (GRCm39)	V159D	probably damaging	Het
Slc25a11	T	C	11: 70,536,405 (GRCm39)	N134S	probably benign	Het
Slc25a24	T	C	3: 109,064,332 (GRCm39)		probably benign	Het
Sorl1	C	G	9: 41,915,384 (GRCm39)	V1282L	probably damaging	Het
Sptan1	T	A	2: 29,916,822 (GRCm39)	I2170N	probably damaging	Het
Syne4	A	G	7: 30,014,345 (GRCm39)		probably benign	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Tg	C	A	15: 66,636,291 (GRCm39)	P626Q	probably damaging	Het
Thoc6	T	A	17: 23,888,550 (GRCm39)	D196V	probably damaging	Het
Tpi1	A	G	6: 124,791,066 (GRCm39)	F57S	probably damaging	Het
Tril	A	G	6: 53,794,793 (GRCm39)	*810Q	probably null	Het
Trrap	T	A	5: 144,776,377 (GRCm39)	V2972D	possibly damaging	Het
Ttn	A	T	2: 76,591,624 (GRCm39)	V12688E	probably damaging	Het
Ttn	T	C	2: 76,551,283 (GRCm39)	M31370V	probably damaging	Het
Txndc11	A	G	16: 10,909,625 (GRCm39)	F307S	probably damaging	Het
Vmn1r40	C	T	6: 89,691,642 (GRCm39)	S153L	probably benign	Het
Vmn2r95	A	G	17: 18,672,005 (GRCm39)	T581A	possibly damaging	Het
Wdtc1	A	G	4: 133,024,811 (GRCm39)	F462S	probably damaging	Het
Zfp101	A	G	17: 33,601,295 (GRCm39)	S154P	possibly damaging	Het
Zmym6	A	G	4: 127,002,487 (GRCm39)	N481D	probably benign	Het

Other mutations in Or4k45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02110:Or4k45	APN	2	111,395,252 (GRCm39)	missense	probably damaging	1.00
IGL02426:Or4k45	APN	2	111,394,883 (GRCm39)	missense	probably benign
IGL02638:Or4k45	APN	2	111,395,249 (GRCm39)	missense	probably damaging	1.00
IGL02743:Or4k45	APN	2	111,394,888 (GRCm39)	missense	possibly damaging	0.95
IGL03161:Or4k45	APN	2	111,395,676 (GRCm39)	missense	possibly damaging	0.78
G1patch:Or4k45	UTSW	2	111,395,252 (GRCm39)	missense	probably damaging	1.00
PIT4377001:Or4k45	UTSW	2	111,395,556 (GRCm39)	missense	probably damaging	0.98
R1634:Or4k45	UTSW	2	111,395,691 (GRCm39)	missense	probably benign	0.00
R2065:Or4k45	UTSW	2	111,395,057 (GRCm39)	missense	probably damaging	0.99
R5308:Or4k45	UTSW	2	111,394,899 (GRCm39)	missense	probably damaging	0.99
R5534:Or4k45	UTSW	2	111,395,349 (GRCm39)	missense	probably benign	0.00
R5990:Or4k45	UTSW	2	111,395,019 (GRCm39)	missense	probably damaging	0.99
R6725:Or4k45	UTSW	2	111,395,252 (GRCm39)	missense	probably damaging	1.00
R7492:Or4k45	UTSW	2	111,395,166 (GRCm39)	missense	probably benign	0.00
R8116:Or4k45	UTSW	2	111,395,783 (GRCm39)	missense	probably benign	0.01
R8400:Or4k45	UTSW	2	111,395,747 (GRCm39)	missense	probably damaging	1.00
R8493:Or4k45	UTSW	2	111,395,324 (GRCm39)	missense	probably damaging	1.00
R9636:Or4k45	UTSW	2	111,395,786 (GRCm39)	start codon destroyed	probably null	1.00
R9736:Or4k45	UTSW	2	111,395,626 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GCAGATGGCTACATAGCGGTCATAAG -3'
(R):5'- TGGGGAAACAATGTCACTCATGTTTGG -3'

Sequencing Primer
(F):5'- TAGCGGTCATAAGCCATTACC -3'
(R):5'- GTGTCAGAATTTATACTCCAGGGAC -3'

Posted On

2013-05-23