Mutagenetix > Incidental Mutation

Incidental Mutation 'R7274:Or4n4b'

565474

Institutional Source

Beutler Lab

Gene Symbol

Or4n4b

Ensembl Gene

ENSMUSG00000090874

Gene Name

olfactory receptor family 4 subfamily N member 4B

Synonyms

Olfr733, GA_x6K02T2PMLR-5992342-5991416, MOR241-2

MMRRC Submission

067851-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R7274 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50535794-50536787 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50535879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 296 (T296S)

Ref Sequence

ENSEMBL: ENSMUSP00000149085 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163469] [ENSMUST00000214372] [ENSMUST00000214756] [ENSMUST00000216195]

AlphaFold

Q14AK5

Predicted Effect

probably benign
Transcript: ENSMUST00000163469
AA Change: T296S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000128332
Gene: ENSMUSG00000090874
AA Change: T296S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	305	6.4e-41	PFAM
Pfam:7tm_1	41	288	1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214372
AA Change: T296S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000214756
AA Change: T296S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000216195
AA Change: T296S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190005I06Rik	T	C	8: 121,338,005 (GRCm39)	S69G	possibly damaging	Het
Alg12	G	A	15: 88,690,910 (GRCm39)	S337F	probably damaging	Het
Bcl11a	T	C	11: 24,113,985 (GRCm39)	S443P	probably damaging	Het
C1qtnf4	T	C	2: 90,719,885 (GRCm39)	Y53H	probably damaging	Het
Cacna1d	T	A	14: 29,864,600 (GRCm39)	E454V	probably damaging	Het
Cacna1h	A	G	17: 25,597,811 (GRCm39)	F1761S	probably damaging	Het
Cacna1i	A	T	15: 80,261,023 (GRCm39)	I1344F	possibly damaging	Het
Cat	T	C	2: 103,307,235 (GRCm39)	N33D	probably benign	Het
Cdh17	C	T	4: 11,783,174 (GRCm39)	Q172*	probably null	Het
Chrna2	A	G	14: 66,386,675 (GRCm39)	I274V	probably benign	Het
Cog2	T	G	8: 125,262,258 (GRCm39)	S299A	possibly damaging	Het
Cpa6	C	A	1: 10,479,524 (GRCm39)	M236I	probably damaging	Het
Crym	T	A	7: 119,789,742 (GRCm39)	Q242L	probably benign	Het
Ddx60	T	C	8: 62,393,142 (GRCm39)		probably null	Het
Eif4a3l1	A	G	6: 136,306,396 (GRCm39)	T286A	possibly damaging	Het
Epdr1	A	T	13: 19,777,458 (GRCm39)	I180N	possibly damaging	Het
Fancd2os	G	A	6: 113,574,851 (GRCm39)	L52F	probably benign	Het
Fbxo16	C	A	14: 65,558,716 (GRCm39)	R292S	probably benign	Het
Fn1	T	C	1: 71,667,272 (GRCm39)	Q820R	probably benign	Het
Gm4131	T	A	14: 62,704,301 (GRCm39)	Y140F	possibly damaging	Het
Grin2a	T	C	16: 9,396,986 (GRCm39)	R1034G	possibly damaging	Het
Hypk	A	G	2: 121,284,805 (GRCm39)		probably benign	Het
Ighmbp2	A	G	19: 3,314,951 (GRCm39)	V823A	probably benign	Het
Irf5	A	G	6: 29,534,039 (GRCm39)	N95S	probably damaging	Het
Kdr	A	T	5: 76,125,360 (GRCm39)	M379K	probably benign	Het
Kif19a	G	T	11: 114,656,281 (GRCm39)		probably benign	Het
Klhdc4	T	C	8: 122,526,397 (GRCm39)		probably null	Het
Lama2	A	T	10: 26,995,976 (GRCm39)	I1717N	probably damaging	Het
Lama4	A	T	10: 38,968,295 (GRCm39)	Q1479L	probably benign	Het
Lgr5	T	A	10: 115,288,410 (GRCm39)	T745S	probably damaging	Het
Lifr	T	A	15: 7,196,540 (GRCm39)		probably null	Het
Llgl1	C	T	11: 60,596,812 (GRCm39)	R138C	possibly damaging	Het
Mccc1	A	T	3: 36,044,005 (GRCm39)	V246E	probably damaging	Het
Mdn1	T	A	4: 32,725,944 (GRCm39)	L2621H	probably benign	Het
Mecr	C	A	4: 131,581,089 (GRCm39)	A80D	probably damaging	Het
Mia2	A	G	12: 59,154,905 (GRCm39)	E206G	probably damaging	Het
Nubpl	A	G	12: 52,179,203 (GRCm39)		probably benign	Het
Obscn	C	T	11: 59,024,053 (GRCm39)	R539H	probably damaging	Het
Or8h10	A	G	2: 86,808,867 (GRCm39)	V91A	probably benign	Het
Pde5a	A	T	3: 122,648,895 (GRCm39)	K838*	probably null	Het
Pgm3	A	G	9: 86,444,650 (GRCm39)	L295P	probably damaging	Het
Pkp2	T	C	16: 16,064,793 (GRCm39)	L439P	possibly damaging	Het
Polr1a	T	A	6: 71,897,500 (GRCm39)	C205*	probably null	Het
Rab3gap1	T	A	1: 127,855,249 (GRCm39)	I429K	probably benign	Het
Rassf8	T	C	6: 145,761,295 (GRCm39)	V207A	probably benign	Het
Sacs	T	A	14: 61,451,530 (GRCm39)	D4525E	possibly damaging	Het
Sec24a	A	T	11: 51,598,082 (GRCm39)	L864Q	probably damaging	Het
Spats2l	C	A	1: 57,918,672 (GRCm39)	Y35*	probably null	Het
Sptlc2	A	T	12: 87,388,380 (GRCm39)	D367E	probably benign	Het
Ssc4d	T	C	5: 135,996,810 (GRCm39)	D97G	possibly damaging	Het
Tjp1	A	G	7: 65,177,400 (GRCm39)	Y3H	possibly damaging	Het
Tkt	T	A	14: 30,291,102 (GRCm39)		probably null	Het
Trim60	T	A	8: 65,453,133 (GRCm39)	N372I	possibly damaging	Het
Trpm2	T	C	10: 77,759,389 (GRCm39)	N1132D	probably benign	Het
Tsc22d1	T	C	14: 76,654,154 (GRCm39)	I211T	probably damaging	Het
Ttc39b	T	C	4: 83,180,088 (GRCm39)	K132E	possibly damaging	Het
Ttn	C	T	2: 76,553,932 (GRCm39)	V30924I	probably damaging	Het
Tubgcp6	G	A	15: 88,987,173 (GRCm39)	Q1267*	probably null	Het
Zfp30	C	A	7: 29,492,043 (GRCm39)	T180N	probably benign	Het
Zp2	A	G	7: 119,731,614 (GRCm39)	*714R	probably null	Het

Other mutations in Or4n4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01879:Or4n4b	APN	14	50,535,969 (GRCm39)	missense	probably benign	0.00
IGL02247:Or4n4b	APN	14	50,536,571 (GRCm39)	missense	probably damaging	1.00
IGL02307:Or4n4b	APN	14	50,536,295 (GRCm39)	missense	probably damaging	1.00
IGL02492:Or4n4b	APN	14	50,536,060 (GRCm39)	missense	probably damaging	1.00
PIT4378001:Or4n4b	UTSW	14	50,536,355 (GRCm39)	missense	probably benign
R0544:Or4n4b	UTSW	14	50,536,139 (GRCm39)	missense	probably benign	0.20
R1603:Or4n4b	UTSW	14	50,536,491 (GRCm39)	missense	possibly damaging	0.95
R1881:Or4n4b	UTSW	14	50,536,472 (GRCm39)	missense	probably damaging	1.00
R3731:Or4n4b	UTSW	14	50,535,962 (GRCm39)	missense	probably damaging	1.00
R4271:Or4n4b	UTSW	14	50,535,908 (GRCm39)	missense	probably damaging	1.00
R4512:Or4n4b	UTSW	14	50,536,453 (GRCm39)	missense	probably damaging	1.00
R5601:Or4n4b	UTSW	14	50,536,318 (GRCm39)	missense	probably damaging	1.00
R6468:Or4n4b	UTSW	14	50,535,924 (GRCm39)	missense	probably benign	0.02
R6614:Or4n4b	UTSW	14	50,536,494 (GRCm39)	missense	probably benign	0.00
R7013:Or4n4b	UTSW	14	50,536,656 (GRCm39)	missense	probably damaging	0.99
R7083:Or4n4b	UTSW	14	50,536,736 (GRCm39)	missense	possibly damaging	0.81
R7493:Or4n4b	UTSW	14	50,536,281 (GRCm39)	missense	probably benign	0.02
R7653:Or4n4b	UTSW	14	50,536,604 (GRCm39)	missense	possibly damaging	0.82
R7659:Or4n4b	UTSW	14	50,536,698 (GRCm39)	missense	probably benign	0.00
R7885:Or4n4b	UTSW	14	50,536,041 (GRCm39)	missense	probably damaging	1.00
R9138:Or4n4b	UTSW	14	50,536,494 (GRCm39)	missense	probably benign
R9497:Or4n4b	UTSW	14	50,536,362 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCTATGTATAAACGCATCAAGTTGC -3'
(R):5'- TTCAATAGTGGCCTGCTTACCC -3'

Sequencing Primer
(F):5'- GTCAAATCTTTCCTGCCTGA -3'
(R):5'- ATGCCATGTTCACAGGTCAG -3'

Posted On

2019-06-26