Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4382001:Olfr574'

554685

Institutional Source

Beutler Lab

Gene Symbol

Olfr574

Ensembl Gene

ENSMUSG00000045824

Gene Name

olfactory receptor 574

Synonyms

GA_x6K02T2PBJ9-5659738-5660748, MOR14-9

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

PIT4382001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102948467-102949507 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102949449 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 328 (Y328F)

Ref Sequence

ENSEMBL: ENSMUSP00000095815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052997] [ENSMUST00000211329] [ENSMUST00000213477] [ENSMUST00000216420]

Predicted Effect

probably benign
Transcript: ENSMUST00000052997
AA Change: Y328F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095815
Gene: ENSMUSG00000045824
AA Change: Y328F

Domain	Start	End	E-Value	Type
low complexity region	14	31	N/A	INTRINSIC
Pfam:7tm_4	44	323	3.8e-96	PFAM
Pfam:7TM_GPCR_Srsx	48	195	1.2e-8	PFAM
Pfam:7tm_1	54	305	2e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211329
AA Change: Y318F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000213477

Predicted Effect

probably benign
Transcript: ENSMUST00000216420

Coding Region Coverage

1x: 92.9%
3x: 90.5%
10x: 84.6%
20x: 72.3%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	G	T	7: 137,376,982	H144N	unknown	Het
Acsm4	C	T	7: 119,698,575	T145M	probably damaging	Het
Adam10	T	C	9: 70,766,081	L498P	probably damaging	Het
Adgrl2	A	G	3: 148,817,298	L430P		Het
Alk	T	C	17: 71,949,921	M648V	probably benign	Het
Arhgap35	T	C	7: 16,563,869	R424G	possibly damaging	Het
Baiap2l1	T	C	5: 144,278,670	K342E	possibly damaging	Het
Ccdc54	C	T	16: 50,590,856	V16M	probably damaging	Het
Chil3	T	G	3: 106,148,659	D366A	probably damaging	Het
Chuk	A	G	19: 44,098,607	V151A	probably damaging	Het
Cpd	T	G	11: 76,797,788	H886P	probably benign	Het
Cped1	T	A	6: 22,222,450	C736*	probably null	Het
Creb3l3	T	C	10: 81,084,912	E428G	probably benign	Het
Csad	G	A	15: 102,188,650	L7F	probably benign	Het
Dnah1	C	T	14: 31,284,455	D2255N	probably damaging	Het
Dnajb12	T	C	10: 59,892,686	Y159H	probably damaging	Het
Dpysl4	T	A	7: 139,089,578	Y57*	probably null	Het
F2rl1	T	G	13: 95,513,646	N243H	probably benign	Het
Fhl4	T	C	10: 85,098,429	K163E	possibly damaging	Het
Flot2	T	C	11: 78,053,367	S46P	possibly damaging	Het
Fsip2	C	A	2: 82,990,852	T5643K	possibly damaging	Het
Gm853	A	T	4: 130,219,161	N147K	possibly damaging	Het
Gm8765	A	T	13: 50,700,971	E215V	probably damaging	Het
Golga4	T	A	9: 118,553,453	Y542N	possibly damaging	Het
Il17re	A	G	6: 113,469,077	T426A	probably benign	Het
Kdm2a	T	A	19: 4,343,173	M385L	probably benign	Het
Kdm3b	T	C	18: 34,809,087	S744P	probably damaging	Het
Krtap6-3	T	A	16: 89,084,160	Y26*	probably null	Het
Lama2	T	C	10: 27,204,905	D974G	probably damaging	Het
Lipo5	A	T	19: 33,465,939	L159Q	probably null	Het
Mau2	C	T	8: 70,030,652	E187K	possibly damaging	Het
Mrpl9	T	C	3: 94,447,829	L236P	probably benign	Het
Mta1	A	G	12: 113,133,250	T564A	probably benign	Het
Mylk	C	T	16: 34,875,642	S249L	probably damaging	Het
Ncor1	G	T	11: 62,344,663	T331K	probably damaging	Het
Nsun3	T	A	16: 62,785,865	K15N	probably damaging	Het
Nsun5	A	G	5: 135,371,501	Y132C	probably benign	Het
Obsl1	T	A	1: 75,487,963	T1605S	probably benign	Het
Olfr1463	T	C	19: 13,234,895	I215T	probably damaging	Het
Olfr519	A	G	7: 108,894,102	Y107H	probably damaging	Het
Olfr566	A	G	7: 102,856,602	Y227H	probably damaging	Het
Oraov1	T	A	7: 144,916,444	Y37N	probably damaging	Het
P2rx1	A	G	11: 73,009,200	N148D	probably benign	Het
Pogz	T	A	3: 94,879,796	S1232T	probably damaging	Het
Polr3b	C	A	10: 84,684,185	T655N	probably damaging	Het
Prss34	T	C	17: 25,298,908		probably null	Het
Rhpn2	A	G	7: 35,390,753		probably null	Het
Runx1	T	A	16: 92,613,760	D256V	probably damaging	Het
Shc1	C	A	3: 89,427,408	Q525K	probably benign	Het
Slc10a5	T	C	3: 10,335,447	D51G	probably benign	Het
Slc6a3	A	T	13: 73,571,523	N557I	probably benign	Het
Slmap	C	T	14: 26,533,431	R32H	probably damaging	Het
Spata31d1c	T	C	13: 65,036,171	I509T	probably benign	Het
Srr	C	A	11: 74,910,308	V138F	probably benign	Het
Tas2r118	G	A	6: 23,969,786	T92I	possibly damaging	Het
Tcaf2	A	T	6: 42,624,366	*920K	probably null	Het
Tenm2	T	A	11: 36,063,902	Y1141F	probably damaging	Het
Thoc6	T	C	17: 23,668,867	N322S	probably benign	Het
Tlcd2	A	G	11: 75,468,591	I70V	probably benign	Het
Tmem214	A	G	5: 30,871,451	D128G	possibly damaging	Het
Trav13-4-dv7	T	C	14: 53,757,781	V64A	probably benign	Het
Tyro3	T	C	2: 119,802,364	W122R	probably damaging	Het
Ugcg	A	G	4: 59,213,246	D144G	possibly damaging	Het
Uimc1	T	C	13: 55,031,015	D627G	probably benign	Het
Utp6	T	C	11: 79,962,273	I13V	probably benign	Het
Vmn2r99	A	G	17: 19,394,343	K775R	probably damaging	Het
Wdfy3	CG	C	5: 101,882,961		probably null	Het
Zw10	C	T	9: 49,071,644	T525I	probably benign	Het

Other mutations in Olfr574

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01154:Olfr574	APN	7	102948839	missense	probably damaging	1.00
IGL01732:Olfr574	APN	7	102949239	missense	probably damaging	1.00
IGL02185:Olfr574	APN	7	102948514	missense	probably damaging	0.96
PIT4520001:Olfr574	UTSW	7	102948714	missense	probably damaging	1.00
R0765:Olfr574	UTSW	7	102948732	missense	probably damaging	1.00
R1616:Olfr574	UTSW	7	102948514	missense	probably damaging	0.96
R2041:Olfr574	UTSW	7	102948963	missense	probably damaging	0.98
R2079:Olfr574	UTSW	7	102949495	missense	probably benign	0.00
R2261:Olfr574	UTSW	7	102949257	missense	probably damaging	1.00
R2263:Olfr574	UTSW	7	102949257	missense	probably damaging	1.00
R2513:Olfr574	UTSW	7	102949493	missense	probably benign
R2903:Olfr574	UTSW	7	102949454	missense	probably benign	0.05
R4445:Olfr574	UTSW	7	102948798	missense	possibly damaging	0.93
R4512:Olfr574	UTSW	7	102948738	missense	probably damaging	1.00
R4513:Olfr574	UTSW	7	102948738	missense	probably damaging	1.00
R4528:Olfr574	UTSW	7	102948806	missense	probably damaging	1.00
R4904:Olfr574	UTSW	7	102949065	missense	probably damaging	1.00
R5935:Olfr574	UTSW	7	102948810	missense	probably benign	0.01
R6784:Olfr574	UTSW	7	102948515	missense	possibly damaging	0.91
R6889:Olfr574	UTSW	7	102948768	missense	possibly damaging	0.94
R7082:Olfr574	UTSW	7	102949248	missense	probably damaging	1.00
R7125:Olfr574	UTSW	7	102949179	missense	probably damaging	0.99
R7549:Olfr574	UTSW	7	102948591	missense	possibly damaging	0.92
R7564:Olfr574	UTSW	7	102949266	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATTTTCTATGTGCCAATGATCACC -3'
(R):5'- GCTCACAAATTGGCTCTGAAATG -3'

Sequencing Primer
(F):5'- AATGATCACCCTGTCTGTGG -3'
(R):5'- GGCTCTGAAATGTGTTTTTAAAGCTC -3'

Posted On

2019-06-07