Mutagenetix > Incidental Mutation

Incidental Mutation 'R6614:Or4n4b'

523870

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

044737-MU

Accession Numbers

Essential gene?

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

Stock #

R6614 (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 50536494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 91 (I91L)

Ref Sequence

ENSEMBL: ENSMUSP00000149807 (fasta)

Gene Model

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

AlphaFold

Q14AK5

Predicted Effect

probably benign
Transcript: ENSMUST00000163469
AA Change: I91L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000128332
Gene: ENSMUSG00000090874
AA Change: I91L

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: I91L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000214756
AA Change: I91L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000216195
AA Change: I91L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

98% (46/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	T	A	8: 125,587,986 (GRCm39)		probably null	Het
Abca13	A	T	11: 9,244,371 (GRCm39)	N2078I	probably benign	Het
Abcc2	A	G	19: 43,807,800 (GRCm39)	I814V	probably benign	Het
Adamts4	A	G	1: 171,084,193 (GRCm39)	R557G	probably benign	Het
Bltp3a	T	A	17: 28,095,899 (GRCm39)	I70N	probably benign	Het
Bysl	A	T	17: 47,912,767 (GRCm39)	L341Q	probably damaging	Het
Csmd1	C	T	8: 17,266,803 (GRCm39)	G41D	probably damaging	Het
Dnah11	T	C	12: 117,850,411 (GRCm39)	D4221G	possibly damaging	Het
Dnah7c	C	A	1: 46,688,500 (GRCm39)	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,688,511 (GRCm39)	S1894G	probably benign	Het
Dnajc21	A	G	15: 10,470,349 (GRCm39)		probably null	Het
Elavl1	C	A	8: 4,339,818 (GRCm39)	A255S	probably damaging	Het
Filip1	C	T	9: 79,723,121 (GRCm39)	G1166D	probably damaging	Het
Gnptg	T	C	17: 25,454,235 (GRCm39)	Y184C	probably damaging	Het
Ifit3b	A	T	19: 34,588,919 (GRCm39)	S32C	probably benign	Het
Kcnh7	T	G	2: 62,607,940 (GRCm39)	Y547S	probably damaging	Het
Lima1	G	A	15: 99,681,461 (GRCm39)	A243V	probably damaging	Het
Mast3	T	A	8: 71,234,610 (GRCm39)	I67F	possibly damaging	Het
Ncor1	A	C	11: 62,221,645 (GRCm39)	M1283R	probably benign	Het
Ndufv1	G	A	19: 4,058,749 (GRCm39)	T253I	probably benign	Het
Neurog1	G	T	13: 56,399,637 (GRCm39)	Q37K	probably benign	Het
Nol4	T	G	18: 23,053,913 (GRCm39)	K200Q	probably damaging	Het
Obscn	T	C	11: 58,903,627 (GRCm39)	H7599R	probably benign	Het
Oog4	A	G	4: 143,164,445 (GRCm39)	V362A	possibly damaging	Het
Oosp1	T	A	19: 11,668,314 (GRCm39)	D23V	probably damaging	Het
Or11a4	T	C	17: 37,536,790 (GRCm39)	V258A	probably benign	Het
Or11g24	C	T	14: 50,662,546 (GRCm39)	T190I	probably benign	Het
Or4k1	T	A	14: 50,377,821 (GRCm39)	I92F	probably damaging	Het
Or7a41	C	A	10: 78,870,925 (GRCm39)	C98*	probably null	Het
P2rx3	A	G	2: 84,865,543 (GRCm39)	I34T	probably damaging	Het
Pate7	A	G	9: 35,688,421 (GRCm39)	W55R	probably damaging	Het
Pla2g4a	A	T	1: 149,717,986 (GRCm39)	V621E	probably benign	Het
Prpf39	T	G	12: 65,089,337 (GRCm39)	V25G	probably benign	Het
Psd	T	C	19: 46,301,851 (GRCm39)	K913E	probably benign	Het
Ptx4	A	T	17: 25,341,676 (GRCm39)	R50S	possibly damaging	Het
Rex2	A	T	4: 147,137,018 (GRCm39)	M16L	probably benign	Het
Serac1	A	T	17: 6,095,937 (GRCm39)	V604E	probably damaging	Het
Sp140l2	A	C	1: 85,179,781 (GRCm39)		probably null	Het
Spata31h1	T	A	10: 82,127,482 (GRCm39)	N1843Y	probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Stxbp6	T	A	12: 44,908,058 (GRCm39)	T187S	probably benign	Het
Tg	G	A	15: 66,607,108 (GRCm39)	C215Y	probably damaging	Het
Top2b	A	T	14: 16,407,142 (GRCm38)	K671*	probably null	Het
Trmt1	G	T	8: 85,415,962 (GRCm39)	V7L	probably benign	Het
Ttn	C	T	2: 76,615,174 (GRCm39)	R15102H	probably benign	Het
Unc79	A	T	12: 102,957,689 (GRCm39)	I35F	probably damaging	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
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'- AGTGAATAAATCCTCCAAGCCAGG -3'
(R):5'- TGACATTCAACGCTTGGTCTTTG -3'

Sequencing Primer
(F):5'- GGGAGCCAACAACATCACATAG -3'
(R):5'- CAACGCTTGGTCTTTGTTCTGAG -3'

Posted On

2018-06-22