Mutagenetix > Incidental Mutation

Incidental Mutation 'R5426:Or4a74'

426857

Institutional Source

Beutler Lab

Gene Symbol

Or4a74

Ensembl Gene

ENSMUSG00000075081

Gene Name

olfactory receptor family 4 subfamily A member 74

Synonyms

GA_x6K02T2Q125-51051555-51050611, Olfr1247, MOR231-6

MMRRC Submission

042992-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R5426 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89439433-89440497 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89440083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 121 (Y121C)

Ref Sequence

ENSEMBL: ENSMUSP00000149408 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099771] [ENSMUST00000111532] [ENSMUST00000216424]

AlphaFold

A2AT78

Predicted Effect

probably damaging
Transcript: ENSMUST00000099771
AA Change: Y121C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097359
Gene: ENSMUSG00000075081
AA Change: Y121C

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	285	4.9e-29	PFAM
Pfam:7tm_4	137	278	4.2e-39	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111532
AA Change: Y121C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107157
Gene: ENSMUSG00000075081
AA Change: Y121C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	1.2e-48	PFAM
Pfam:7tm_1	39	285	1.6e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216424
AA Change: Y121C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.8533

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

97% (85/88)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,056,633 (GRCm39)	H122L	probably damaging	Het
9330182O14Rik	G	A	15: 40,011,932 (GRCm39)	M90I	unknown	Het
9330182O14Rik	G	A	15: 40,011,933 (GRCm39)	D91N	unknown	Het
Abca13	T	A	11: 9,240,722 (GRCm39)	S862T	probably damaging	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adgb	C	A	10: 10,226,004 (GRCm39)	A1405S	probably benign	Het
Adpgk	T	A	9: 59,204,832 (GRCm39)	V86E	probably damaging	Het
Agfg2	G	C	5: 137,666,020 (GRCm39)	P80A	probably damaging	Het
Akap11	G	A	14: 78,736,304 (GRCm39)	Q1829*	probably null	Het
Aldh1l1	G	A	6: 90,536,281 (GRCm39)	R62Q	probably benign	Het
Amd1	G	T	10: 40,166,183 (GRCm39)	D265E	probably damaging	Het
Aox4	A	T	1: 58,259,253 (GRCm39)	Q106L	probably damaging	Het
Arap2	A	T	5: 62,800,159 (GRCm39)	N1289K	probably benign	Het
Arhgef12	T	C	9: 42,897,880 (GRCm39)	S874G	probably damaging	Het
Ccdc166	T	C	15: 75,853,945 (GRCm39)	Q45R	possibly damaging	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Cdk14	A	G	5: 4,938,975 (GRCm39)	S388P	possibly damaging	Het
Chgb	A	T	2: 132,635,453 (GRCm39)	Q465L	possibly damaging	Het
Commd9	T	A	2: 101,729,220 (GRCm39)	W109R	probably damaging	Het
Cspg4b	G	A	13: 113,505,587 (GRCm39)	V2239I	probably benign	Het
Cyp2b9	T	C	7: 25,887,080 (GRCm39)	V163A	probably benign	Het
Dcpp2	T	A	17: 24,118,287 (GRCm39)	H27Q	possibly damaging	Het
Ddn	T	A	15: 98,704,347 (GRCm39)	E315V	possibly damaging	Het
Defb29	C	A	2: 152,380,868 (GRCm39)	C47F	probably damaging	Het
Dnah7b	T	C	1: 46,281,366 (GRCm39)	M2809T	possibly damaging	Het
Dock4	A	T	12: 40,795,744 (GRCm39)	I854F	probably damaging	Het
Dsg4	T	C	18: 20,591,541 (GRCm39)	Y427H	probably damaging	Het
E130114P18Rik	C	T	4: 97,578,907 (GRCm39)	A23T	unknown	Het
Flacc1	T	A	1: 58,706,045 (GRCm39)	K275*	probably null	Het
Gemin5	A	G	11: 58,016,113 (GRCm39)	S1297P	probably benign	Het
Gm10309	A	C	17: 86,806,161 (GRCm39)		probably benign	Het
Gpatch11	T	A	17: 79,148,663 (GRCm39)	S155R	possibly damaging	Het
Grin2b	C	A	6: 135,709,366 (GRCm39)	Q1393H	probably damaging	Het
Heatr5b	C	T	17: 79,081,142 (GRCm39)	C1370Y	probably damaging	Het
Hmcn2	C	T	2: 31,226,556 (GRCm39)	T177I	possibly damaging	Het
Ildr1	A	T	16: 36,529,981 (GRCm39)	I123F	probably damaging	Het
Kalrn	A	T	16: 34,083,023 (GRCm39)	V644D	probably damaging	Het
Kifap3	A	G	1: 163,607,440 (GRCm39)	M1V	probably null	Het
Klhl11	A	G	11: 100,354,942 (GRCm39)	L293P	probably damaging	Het
Klrc3	G	A	6: 129,618,513 (GRCm39)	S98L	probably benign	Het
Lrrc37	A	T	11: 103,511,586 (GRCm39)	H127Q	unknown	Het
Med12l	G	A	3: 59,156,143 (GRCm39)	M1220I	probably damaging	Het
Ms4a7	C	T	19: 11,303,166 (GRCm39)		probably null	Het
Mybpc2	A	G	7: 44,159,253 (GRCm39)	V599A	probably benign	Het
Naalad2	T	C	9: 18,258,815 (GRCm39)	N487D	probably benign	Het
Nat8f7	T	G	6: 85,684,805 (GRCm39)	S12R	probably benign	Het
Nefm	T	A	14: 68,357,515 (GRCm39)		probably benign	Het
Nlrp5	T	C	7: 23,117,626 (GRCm39)	V450A	probably damaging	Het
Nps	G	A	7: 134,870,376 (GRCm39)		probably null	Het
Or13c7d	A	G	4: 43,770,168 (GRCm39)	I281T	probably benign	Het
Or2ag16	C	A	7: 106,351,773 (GRCm39)	S274I	probably benign	Het
Or4b13	T	A	2: 90,082,955 (GRCm39)	K126*	probably null	Het
Or5e1	T	C	7: 108,354,924 (GRCm39)	L287P	possibly damaging	Het
Or5h24	G	T	16: 58,918,665 (GRCm39)	P230Q	possibly damaging	Het
Or5p67	T	C	7: 107,922,017 (GRCm39)	N289D	probably damaging	Het
Oxct2a	C	A	4: 123,216,506 (GRCm39)	G292W	possibly damaging	Het
Pramel32	T	A	4: 88,547,647 (GRCm39)		probably benign	Het
Prr27	T	C	5: 87,998,744 (GRCm39)		probably benign	Het
Ptx3	T	C	3: 66,128,143 (GRCm39)	M68T	probably damaging	Het
Rufy1	A	G	11: 50,312,561 (GRCm39)	L131S	probably damaging	Het
Septin7	T	A	9: 25,197,986 (GRCm39)	I100N	possibly damaging	Het
Sgms2	T	C	3: 131,135,446 (GRCm39)	I143V	probably benign	Het
Slc25a34	A	G	4: 141,350,877 (GRCm39)	V44A	probably damaging	Het
Slc28a3	T	A	13: 58,710,968 (GRCm39)	D518V	probably damaging	Het
Slc6a7	C	T	18: 61,136,308 (GRCm39)		probably null	Het
Slco4a1	C	A	2: 180,113,028 (GRCm39)	A420D	possibly damaging	Het
Smap1	T	C	1: 23,888,471 (GRCm39)	T180A	probably benign	Het
Specc1l	T	C	10: 75,103,384 (GRCm39)	S920P	probably benign	Het
Tgtp2	A	G	11: 48,950,083 (GRCm39)	M163T	probably benign	Het
Tiam1	G	T	16: 89,662,280 (GRCm39)	Q613K	possibly damaging	Het
Vsig10l	T	A	7: 43,114,247 (GRCm39)	S190T	probably damaging	Het
Vwa3b	A	G	1: 37,154,752 (GRCm39)	Y512C	probably damaging	Het
Wdfy3	T	A	5: 102,067,312 (GRCm39)	N1207Y	probably damaging	Het
Wdr17	C	T	8: 55,134,434 (GRCm39)	G349R	probably damaging	Het
Wdr70	A	G	15: 7,951,586 (GRCm39)	L417S	possibly damaging	Het
Wdr81	A	C	11: 75,341,722 (GRCm39)	S1182A	possibly damaging	Het
Zfp458	A	T	13: 67,405,256 (GRCm39)	C391*	probably null	Het
Zfp638	A	G	6: 83,953,396 (GRCm39)	E1167G	probably damaging	Het
Zfp763	T	A	17: 33,238,569 (GRCm39)	D192V	probably benign	Het
Zfp853	T	G	5: 143,274,624 (GRCm39)	Q332P	unknown	Het

Other mutations in Or4a74

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01101:Or4a74	APN	2	89,440,191 (GRCm39)	missense	probably benign	0.00
IGL01337:Or4a74	APN	2	89,439,720 (GRCm39)	missense	probably damaging	0.97
IGL02537:Or4a74	APN	2	89,439,739 (GRCm39)	missense	possibly damaging	0.88
IGL02651:Or4a74	APN	2	89,439,842 (GRCm39)	missense	possibly damaging	0.67
IGL02734:Or4a74	APN	2	89,440,303 (GRCm39)	missense	probably benign	0.04
IGL03177:Or4a74	APN	2	89,439,826 (GRCm39)	missense	probably benign	0.03
IGL03184:Or4a74	APN	2	89,439,912 (GRCm39)	missense	probably damaging	1.00
R0207:Or4a74	UTSW	2	89,440,207 (GRCm39)	missense	probably damaging	0.97
R0278:Or4a74	UTSW	2	89,440,108 (GRCm39)	missense	probably damaging	1.00
R0278:Or4a74	UTSW	2	89,440,107 (GRCm39)	missense	probably damaging	1.00
R0601:Or4a74	UTSW	2	89,439,564 (GRCm39)	missense	probably benign	0.00
R0633:Or4a74	UTSW	2	89,439,718 (GRCm39)	missense	probably benign	0.10
R1824:Or4a74	UTSW	2	89,439,693 (GRCm39)	missense	probably damaging	1.00
R1863:Or4a74	UTSW	2	89,440,053 (GRCm39)	nonsense	probably null
R2073:Or4a74	UTSW	2	89,439,822 (GRCm39)	missense	probably benign	0.01
R2074:Or4a74	UTSW	2	89,439,822 (GRCm39)	missense	probably benign	0.01
R2075:Or4a74	UTSW	2	89,439,822 (GRCm39)	missense	probably benign	0.01
R3921:Or4a74	UTSW	2	89,439,853 (GRCm39)	missense	probably benign	0.00
R4559:Or4a74	UTSW	2	89,440,043 (GRCm39)	missense	probably damaging	0.99
R5128:Or4a74	UTSW	2	89,439,647 (GRCm39)	missense	probably damaging	1.00
R5140:Or4a74	UTSW	2	89,439,627 (GRCm39)	missense	probably damaging	1.00
R5896:Or4a74	UTSW	2	89,439,667 (GRCm39)	missense	probably damaging	0.98
R5902:Or4a74	UTSW	2	89,439,595 (GRCm39)	missense	probably damaging	1.00
R6478:Or4a74	UTSW	2	89,439,790 (GRCm39)	missense	probably damaging	1.00
R7143:Or4a74	UTSW	2	89,440,363 (GRCm39)	missense	probably benign	0.00
R7221:Or4a74	UTSW	2	89,440,272 (GRCm39)	missense	probably damaging	1.00
R7599:Or4a74	UTSW	2	89,439,571 (GRCm39)	missense	possibly damaging	0.89
R8709:Or4a74	UTSW	2	89,440,366 (GRCm39)	missense	probably benign	0.00
R8711:Or4a74	UTSW	2	89,440,291 (GRCm39)	missense	probably benign	0.05
R8721:Or4a74	UTSW	2	89,440,186 (GRCm39)	missense	probably benign	0.05
R9278:Or4a74	UTSW	2	89,439,948 (GRCm39)	missense	probably damaging	1.00
R9630:Or4a74	UTSW	2	89,440,349 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGTCACAGCCAAAGTGATCAATG -3'
(R):5'- CATCGTGGGGACAGTGATTG -3'

Sequencing Primer
(F):5'- GTGATCAATGACATTAGGTCCACAG -3'
(R):5'- ACAGTGATTGCCAGCCC -3'

Posted On

2016-09-01