Mutagenetix > Incidental Mutation

Incidental Mutation 'R6818:Or4k38'

537409

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

044930-MU

Accession Numbers

Essential gene?

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

Stock #

R6818 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111165504-111166421 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 111165659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 255 (I255L)

Ref Sequence

ENSEMBL: ENSMUSP00000097213 (fasta)

Gene Model

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

AlphaFold

Q7TQY5

Predicted Effect

probably benign
Transcript: ENSMUST00000099618
AA Change: I255L

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097213
Gene: ENSMUSG00000096554
AA Change: I255L

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

97% (59/61)

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
Abcb5	T	A	12: 118,865,089 (GRCm39)		probably null	Het
Acot4	A	C	12: 84,088,783 (GRCm39)	E210D	probably damaging	Het
Adamts9	A	C	6: 92,882,172 (GRCm39)	S476A	probably damaging	Het
Ajm1	C	CTCTA	2: 25,469,733 (GRCm39)		probably null	Het
Ak1	T	A	2: 32,520,385 (GRCm39)	M61K	probably damaging	Het
Ambp	G	T	4: 63,072,243 (GRCm39)	S17*	probably null	Het
Anxa6	T	A	11: 54,870,326 (GRCm39)	M662L	probably benign	Het
Atp11b	T	C	3: 35,868,329 (GRCm39)	I467T	possibly damaging	Het
B3gat1	G	T	9: 26,662,998 (GRCm39)		probably benign	Het
Bccip	T	G	7: 133,319,488 (GRCm39)	I193S	probably damaging	Het
Ccdc170	A	G	10: 4,491,782 (GRCm39)	E401G	probably damaging	Het
Cldn16	A	G	16: 26,296,257 (GRCm39)	T78A	probably damaging	Het
Cldn24	G	T	8: 48,275,757 (GRCm39)	A194S	probably benign	Het
Cltc	A	G	11: 86,595,054 (GRCm39)	V1348A	possibly damaging	Het
Clvs1	T	C	4: 9,282,014 (GRCm39)		probably null	Het
Csmd1	C	T	8: 16,235,341 (GRCm39)	D1161N	probably damaging	Het
Cuzd1	A	G	7: 130,918,394 (GRCm39)	V181A	probably damaging	Het
Dhx30	A	G	9: 109,917,099 (GRCm39)	I435T	probably damaging	Het
Dip2b	T	C	15: 100,091,835 (GRCm39)	V858A	probably benign	Het
Dnmt3b	C	T	2: 153,528,204 (GRCm39)	T822M	probably damaging	Het
Dock10	A	T	1: 80,593,082 (GRCm39)	F97I	possibly damaging	Het
Dock8	T	C	19: 25,146,865 (GRCm39)		probably null	Het
Dvl2	T	C	11: 69,900,099 (GRCm39)	L631P	probably damaging	Het
Faf2	T	A	13: 54,789,419 (GRCm39)		probably null	Het
Fat2	T	A	11: 55,200,167 (GRCm39)	H969L	probably benign	Het
Fsip2	T	A	2: 82,815,544 (GRCm39)	V3759E	probably benign	Het
Gm10985	A	C	3: 53,752,674 (GRCm39)	Y19S	probably damaging	Het
Gm973	T	C	1: 59,669,328 (GRCm39)	L793P	probably damaging	Het
H2-M1	A	G	17: 36,981,327 (GRCm39)	I236T	probably damaging	Het
Hif1a	A	T	12: 73,992,337 (GRCm39)	R765*	probably null	Het
Htt	A	G	5: 34,940,111 (GRCm39)	K77E	probably damaging	Het
Ift172	G	T	5: 31,423,304 (GRCm39)	Q826K	probably benign	Het
Inafm1	C	T	7: 16,007,086 (GRCm39)	A44T	probably damaging	Het
Kctd4	A	G	14: 76,200,748 (GRCm39)	T240A	probably damaging	Het
Klk1	A	T	7: 43,878,883 (GRCm39)	I124F	probably damaging	Het
Krbox5	A	G	13: 67,981,986 (GRCm39)	Q66R	possibly damaging	Het
Kremen1	T	C	11: 5,145,051 (GRCm39)	T442A	probably benign	Het
Mei4	T	A	9: 81,907,574 (GRCm39)	D202E	probably benign	Het
Mest	T	A	6: 30,746,286 (GRCm39)	D284E	probably damaging	Het
Nsfl1c	T	A	2: 151,344,940 (GRCm39)	Y95*	probably null	Het
Or10al5	T	A	17: 38,063,315 (GRCm39)	V190D	possibly damaging	Het
Or10am5	T	C	7: 6,517,550 (GRCm39)	M293V	probably damaging	Het
Or2ak4	T	A	11: 58,648,783 (GRCm39)	C97*	probably null	Het
Pgm1	T	A	4: 99,820,763 (GRCm39)	I220N	probably damaging	Het
Pirt	T	A	11: 66,816,719 (GRCm39)	V10E	possibly damaging	Het
Prl7d1	C	A	13: 27,898,454 (GRCm39)	M19I	probably benign	Het
Samhd1	T	C	2: 156,949,417 (GRCm39)	N490D	probably benign	Het
Scn2a	C	A	2: 65,519,013 (GRCm39)	S413*	probably null	Het
Serpinb6e	A	T	13: 34,016,337 (GRCm39)		probably null	Het
Slitrk5	A	G	14: 111,917,726 (GRCm39)	D450G	probably benign	Het
Tchh	A	G	3: 93,350,718 (GRCm39)	T53A	probably damaging	Het
Tmem44	A	T	16: 30,362,039 (GRCm39)		probably null	Het
Tpm3-rs7	A	G	14: 113,552,448 (GRCm39)	E114G	possibly damaging	Het
Treml2	A	G	17: 48,609,925 (GRCm39)	Y119C	probably damaging	Het
Ubxn1	T	A	19: 8,851,245 (GRCm39)		probably null	Het
Vmn2r84	A	T	10: 130,222,147 (GRCm39)	M691K	probably benign	Het
Vmn2r97	A	T	17: 19,168,193 (GRCm39)	I816F	possibly damaging	Het
Was	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	X: 7,952,450 (GRCm39)		probably benign	Het
Wfdc2	T	C	2: 164,405,070 (GRCm39)		probably null	Het
Zscan4-ps3	T	C	7: 11,346,986 (GRCm39)	S341P	probably 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
R1033:Or4k38	UTSW	2	111,166,147 (GRCm39)	missense	probably damaging	1.00
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
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'- ACCTACCTACCAATAGCTTTGAG -3'
(R):5'- TAGCCTGCATGAATACTGATACTC -3'

Sequencing Primer
(F):5'- TTTGAAGTCAATATATGGCTAAAGGG -3'
(R):5'- CTGGAAATCCTAATAAATGCTGACAG -3'

Posted On

2018-10-18