Mutagenetix > Incidental Mutation

Incidental Mutation 'R1033:Or4k38'

95209

Institutional Source

Beutler Lab

Gene Symbol

Or4k38

Ensembl Gene

ENSMUSG00000096554

Gene Name

olfactory receptor family 4 subfamily K member 38

Synonyms

MOR248-16, Olfr1557, MOR248-2, Olfr1282, GA_x6K02T2Q125-72387537-72386620

MMRRC Submission

039132-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R1033 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111165504-111166421 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111166147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 92 (I92N)

Ref Sequence

ENSEMBL: ENSMUSP00000097213 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099618] [ENSMUST00000208176]

AlphaFold

Q7TQY5

Predicted Effect

probably damaging
Transcript: ENSMUST00000099618
AA Change: I92N

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

SMART Domains

Protein: ENSMUSP00000097213
Gene: ENSMUSG00000096554
AA Change: I92N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	5.5e-47	PFAM
Pfam:7tm_1	41	287	2.6e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208176

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 91.7%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	A	5: 77,024,130 (GRCm39)	T174M	probably damaging	Het
Akap6	A	C	12: 53,116,005 (GRCm39)	D1036A	probably damaging	Het
Alg6	T	C	4: 99,650,270 (GRCm39)	S497P	probably benign	Het
Arhgap10	T	A	8: 77,983,976 (GRCm39)	I700L	possibly damaging	Het
Atp11a	A	G	8: 12,878,555 (GRCm39)	Y377C	probably damaging	Het
Atp2b2	A	T	6: 113,770,849 (GRCm39)		probably null	Het
Card14	T	A	11: 119,229,196 (GRCm39)	V702D	probably damaging	Het
Ccdc17	C	T	4: 116,454,077 (GRCm39)	R32*	probably null	Het
Cdh20	A	T	1: 110,012,783 (GRCm39)	D372V	probably damaging	Het
Cfap54	A	T	10: 92,675,311 (GRCm39)	I2870N	probably benign	Het
Cped1	G	T	6: 22,016,950 (GRCm39)	V100F	probably damaging	Het
Dapk1	T	C	13: 60,869,679 (GRCm39)		probably null	Het
Exoc4	G	A	6: 33,242,922 (GRCm39)	G45D	probably damaging	Het
Fam110b	A	T	4: 5,799,440 (GRCm39)	N286I	probably benign	Het
Fbxo10	A	T	4: 45,062,236 (GRCm39)	C97S	probably damaging	Het
Frem3	A	T	8: 81,421,786 (GRCm39)	H2062L	probably benign	Het
Frk	T	C	10: 34,484,454 (GRCm39)	C476R	probably damaging	Het
Gm10542	A	G	18: 44,337,668 (GRCm39)	T49A	probably benign	Het
Gm128	A	G	3: 95,147,322 (GRCm39)	V324A	possibly damaging	Het
Gpr141	C	T	13: 19,935,880 (GRCm39)	M298I	probably benign	Het
Gxylt1	T	C	15: 93,142,958 (GRCm39)	E369G	probably benign	Het
Hpse2	A	G	19: 42,901,638 (GRCm39)	V368A	probably benign	Het
Ice1	A	T	13: 70,754,713 (GRCm39)	S458T	probably damaging	Het
Itgb7	T	A	15: 102,131,989 (GRCm39)	D198V	probably damaging	Het
Kcnk10	A	G	12: 98,484,929 (GRCm39)	V72A	possibly damaging	Het
Magel2	A	G	7: 62,029,798 (GRCm39)	M901V	unknown	Het
Mgam	A	T	6: 40,657,558 (GRCm39)	Y971F	probably benign	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Mug1	A	T	6: 121,857,510 (GRCm39)	D1078V	probably damaging	Het
Myom2	G	A	8: 15,158,934 (GRCm39)	R870H	probably benign	Het
Nek8	A	T	11: 78,062,111 (GRCm39)	L71Q	probably null	Het
Nox4	T	A	7: 87,023,621 (GRCm39)	D502E	probably damaging	Het
Nsmaf	G	A	4: 6,438,054 (GRCm39)	P73S	probably damaging	Het
Nup205	C	T	6: 35,204,377 (GRCm39)	A1421V	probably benign	Het
Nxpe4	T	C	9: 48,304,533 (GRCm39)	F207L	probably damaging	Het
Or1p1	A	C	11: 74,179,492 (GRCm39)	T7P	probably damaging	Het
Or3a1	A	C	11: 74,225,462 (GRCm39)	N198K	possibly damaging	Het
Or5al7	A	G	2: 85,993,194 (GRCm39)	I33T	possibly damaging	Het
Pals2	T	C	6: 50,160,716 (GRCm39)	Y326H	probably damaging	Het
Prkdc	T	C	16: 15,585,815 (GRCm39)	L2451P	probably damaging	Het
Rad51ap2	C	T	12: 11,506,252 (GRCm39)	S58F	probably damaging	Het
Rbbp8	A	G	18: 11,875,762 (GRCm39)	R892G	probably benign	Het
Rock1	A	G	18: 10,067,535 (GRCm39)	S1333P	probably benign	Het
Rpl7	A	G	1: 16,172,728 (GRCm39)	I197T	probably benign	Het
Sar1a	C	A	10: 61,521,395 (GRCm39)	Q81K	probably damaging	Het
Shank1	A	T	7: 44,006,220 (GRCm39)	H1979L	possibly damaging	Het
Slc10a2	C	T	8: 5,154,889 (GRCm39)	V99M	probably damaging	Het
Slc22a30	G	A	19: 8,313,165 (GRCm39)	Q436*	probably null	Het
Spata31e2	G	A	1: 26,721,466 (GRCm39)	P1238L	probably benign	Het
Speer4a2	T	C	5: 26,294,125 (GRCm39)	K18E	probably benign	Het
Szt2	C	T	4: 118,244,303 (GRCm39)	R1305H	probably damaging	Het
Ubash3a	G	A	17: 31,427,186 (GRCm39)	G32S	probably damaging	Het
Vmn1r200	G	A	13: 22,580,060 (GRCm39)	D279N	probably damaging	Het
Zbtb8a	T	C	4: 129,248,014 (GRCm39)	D419G	possibly damaging	Het

Other mutations in Or4k38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02677:Or4k38	APN	2	111,166,147 (GRCm39)	missense	probably damaging	1.00
R0798:Or4k38	UTSW	2	111,165,689 (GRCm39)	missense	probably benign	0.16
R0932:Or4k38	UTSW	2	111,165,543 (GRCm39)	missense	probably benign	0.00
R0972:Or4k38	UTSW	2	111,165,763 (GRCm39)	missense	probably benign	0.18
R1864:Or4k38	UTSW	2	111,166,052 (GRCm39)	missense	possibly damaging	0.95
R1879:Or4k38	UTSW	2	111,165,808 (GRCm39)	missense	possibly damaging	0.61
R2343:Or4k38	UTSW	2	111,166,045 (GRCm39)	missense	probably damaging	1.00
R2509:Or4k38	UTSW	2	111,166,076 (GRCm39)	missense	probably damaging	0.98
R3620:Or4k38	UTSW	2	111,165,689 (GRCm39)	missense	probably benign	0.06
R5589:Or4k38	UTSW	2	111,165,850 (GRCm39)	missense	possibly damaging	0.46
R6487:Or4k38	UTSW	2	111,166,012 (GRCm39)	missense	probably benign	0.00
R6818:Or4k38	UTSW	2	111,165,659 (GRCm39)	missense	probably benign	0.22
R7153:Or4k38	UTSW	2	111,166,246 (GRCm39)	missense	probably damaging	1.00
R7480:Or4k38	UTSW	2	111,165,737 (GRCm39)	missense	probably benign	0.22
R7589:Or4k38	UTSW	2	111,165,719 (GRCm39)	missense	probably damaging	1.00
R8441:Or4k38	UTSW	2	111,166,131 (GRCm39)	nonsense	probably null
R8774:Or4k38	UTSW	2	111,166,318 (GRCm39)	missense	probably damaging	1.00
R8774-TAIL:Or4k38	UTSW	2	111,166,318 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCAACCCAGGTGATGCTGACTG -3'
(R):5'- AGGGACTGTGTTCCTCAAGGCAAC -3'

Sequencing Primer
(F):5'- CCAGAGTATCAGTATTCATGCAGG -3'
(R):5'- TCCATCCTCTACCTGATGGC -3'

Posted On

2014-01-05