Mutagenetix > Incidental Mutation

Incidental Mutation 'R1603:Or4n4b'

176279

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

039640-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R1603 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50535794-50536787 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 50536491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 92 (I92L)

Ref Sequence

ENSEMBL: ENSMUSP00000149807 (fasta)

Gene Model

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

AlphaFold

Q14AK5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163469
AA Change: I92L

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128332
Gene: ENSMUSG00000090874
AA Change: I92L

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

possibly damaging
Transcript: ENSMUST00000214372
AA Change: I92L

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214756
AA Change: I92L

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216195
AA Change: I92L

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

Validation Efficiency

96% (65/68)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	G	A	3: 68,777,546 (GRCm39)	S169N	probably benign	Het
Ace	T	A	11: 105,862,925 (GRCm39)	S315R	probably benign	Het
Adamtsl1	A	G	4: 86,333,767 (GRCm39)	I1491V	probably benign	Het
Adrb2	A	T	18: 62,312,579 (GRCm39)	M82K	probably damaging	Het
Aebp2	A	G	6: 140,587,979 (GRCm39)	N350D	probably damaging	Het
Ankrd42	T	C	7: 92,268,899 (GRCm39)		probably benign	Het
Asap1	A	T	15: 64,001,106 (GRCm39)	C492S	probably damaging	Het
Atp8b3	C	A	10: 80,361,619 (GRCm39)	A768S	probably benign	Het
Chga	T	A	12: 102,530,866 (GRCm39)		probably null	Het
Clca4b	A	G	3: 144,627,780 (GRCm39)	V397A	probably benign	Het
Cntnap5a	A	C	1: 116,339,831 (GRCm39)	T697P	possibly damaging	Het
Col12a1	T	C	9: 79,520,244 (GRCm39)	Q2810R	probably damaging	Het
Dchs1	G	T	7: 105,411,977 (GRCm39)	R1380S	probably benign	Het
Dgkg	T	A	16: 22,388,909 (GRCm39)		probably benign	Het
Dlgap3	G	A	4: 127,089,021 (GRCm39)	G206R	probably damaging	Het
Dnah5	A	G	15: 28,295,131 (GRCm39)		probably benign	Het
Dnah5	A	T	15: 28,449,326 (GRCm39)	I4243L	probably benign	Het
Eif1ad16	C	A	12: 87,985,134 (GRCm39)	E136D	probably benign	Het
Fbxw22	G	T	9: 109,207,915 (GRCm39)	P452H	probably benign	Het
Fgl1	T	A	8: 41,650,055 (GRCm39)	D242V	probably damaging	Het
Gba2	C	T	4: 43,567,823 (GRCm39)	G794R	probably damaging	Het
Gimap7	A	T	6: 48,700,864 (GRCm39)	D150V	probably damaging	Het
Gm5334	T	C	7: 68,268,620 (GRCm39)	V13A	probably benign	Het
Grk5	T	C	19: 61,057,800 (GRCm39)	F167L	probably benign	Het
Ice1	A	G	13: 70,751,472 (GRCm39)	L1538P	probably benign	Het
Idh2	T	G	7: 79,748,906 (GRCm39)	E125A	probably damaging	Het
Kmt2a	A	T	9: 44,752,858 (GRCm39)		probably null	Het
Kras	A	T	6: 145,170,871 (GRCm39)	L168*	probably null	Het
Lrrc66	G	A	5: 73,764,769 (GRCm39)	S758L	possibly damaging	Het
Mak	T	C	13: 41,195,582 (GRCm39)	D377G	possibly damaging	Het
Matn2	T	C	15: 34,388,914 (GRCm39)	C335R	probably damaging	Het
Mcoln2	C	T	3: 145,885,977 (GRCm39)	S276F	probably damaging	Het
Morc3	C	A	16: 93,663,391 (GRCm39)	N531K	probably benign	Het
Obp2a	G	A	2: 25,592,757 (GRCm39)	S175N	probably benign	Het
Or2ak6	T	C	11: 58,593,286 (GRCm39)	V253A	probably benign	Het
Or5an1b	A	T	19: 12,299,348 (GRCm39)	V281E	probably damaging	Het
Osbpl3	C	A	6: 50,300,073 (GRCm39)	K510N	probably damaging	Het
Pcnx2	G	A	8: 126,566,365 (GRCm39)	S1026F	probably damaging	Het
Pom121l2	A	T	13: 22,167,514 (GRCm39)	D595V	probably damaging	Het
Poteg	T	A	8: 27,938,033 (GRCm39)	M1K	probably null	Het
Rbl1	G	A	2: 157,017,579 (GRCm39)	L547F	possibly damaging	Het
Rpap3	T	C	15: 97,599,002 (GRCm39)	T82A	possibly damaging	Het
Sema7a	G	A	9: 57,867,959 (GRCm39)	D512N	probably benign	Het
Sgpl1	C	T	10: 60,941,230 (GRCm39)	V294M	possibly damaging	Het
Slc22a28	A	G	19: 8,040,674 (GRCm39)	S526P	probably damaging	Het
Spata31e2	T	A	1: 26,724,650 (GRCm39)	R177W	probably damaging	Het
Tent2	G	A	13: 93,312,073 (GRCm39)	A209V	probably benign	Het
Trim30b	T	G	7: 104,015,019 (GRCm39)	Q123P	possibly damaging	Het
Trpm5	A	G	7: 142,638,946 (GRCm39)	L275P	probably benign	Het
Ttc33	A	G	15: 5,219,275 (GRCm39)	E71G	probably damaging	Het
Unc13d	T	C	11: 115,964,481 (GRCm39)	T288A	possibly damaging	Het
Unc93a	T	A	17: 13,328,521 (GRCm39)	E444V	probably benign	Het
Usf3	T	A	16: 44,038,535 (GRCm39)	M1005K	probably benign	Het
Vmn2r91	T	C	17: 18,326,405 (GRCm39)	I230T	probably benign	Het
Wdr49	G	A	3: 75,304,177 (GRCm39)	Q448*	probably null	Het
Zfp939	T	A	7: 39,122,695 (GRCm39)		noncoding transcript	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
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
R7274:Or4n4b	UTSW	14	50,535,879 (GRCm39)	missense	probably benign	0.01
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'- TTTGGACCACAGAAGGGCAAGC -3'
(R):5'- ACTAATGCTGAGACAAAGGTGTGGC -3'

Sequencing Primer
(F):5'- TGGAGTGAATAAATCCTCCAAGC -3'
(R):5'- TTCATCTTCACAGGACTGACAGAG -3'

Posted On

2014-04-24