Mutagenetix > Incidental Mutation

Incidental Mutation 'R6141:Or4k42'

488564

Institutional Source

Beutler Lab

Gene Symbol

Or4k42

Ensembl Gene

ENSMUSG00000095809

Gene Name

olfactory receptor family 4 subfamily K member 42

Synonyms

Olfr1290, MOR248-9, GA_x6K02T2Q125-72541649-72540711

MMRRC Submission

044288-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R6141 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111319563-111324160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111320464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 13 (I13T)

Ref Sequence

ENSEMBL: ENSMUSP00000146756 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099616] [ENSMUST00000208695] [ENSMUST00000208881] [ENSMUST00000217611]

AlphaFold

Q7TQX8

Predicted Effect

probably benign
Transcript: ENSMUST00000099616
AA Change: I13T

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000097211
Gene: ENSMUSG00000095809
AA Change: I13T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	3.5e-52	PFAM
Pfam:7tm_1	41	287	1e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207707
AA Change: I13T

Predicted Effect

probably benign
Transcript: ENSMUST00000208695
AA Change: I13T

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000208881
AA Change: I13T

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000217611
AA Change: I13T

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933421I07Rik	A	T	7: 42,097,483 (GRCm39)	C4S	probably damaging	Het
Abhd5	A	T	9: 122,206,998 (GRCm39)	T95S	probably benign	Het
Ambra1	A	T	2: 91,706,099 (GRCm39)	N795Y	probably damaging	Het
Brca2	A	G	5: 150,464,102 (GRCm39)	N1289D	possibly damaging	Het
Cavin2	T	C	1: 51,340,097 (GRCm39)	L258P	probably damaging	Het
Ccdc110	A	G	8: 46,394,807 (GRCm39)	T233A	possibly damaging	Het
Ccdc14	T	A	16: 34,526,932 (GRCm39)	I279N	probably damaging	Het
Cntn5	A	T	9: 10,144,162 (GRCm39)	L169Q	probably benign	Het
Dbf4	T	C	5: 8,458,545 (GRCm39)	S157G	possibly damaging	Het
Defb22	A	T	2: 152,327,722 (GRCm39)	N154K	unknown	Het
Eepd1	T	A	9: 25,394,280 (GRCm39)	D181E	probably benign	Het
Etfa	T	C	9: 55,372,103 (GRCm39)	H286R	probably damaging	Het
Gm44419	T	A	6: 65,127,940 (GRCm39)		noncoding transcript	Het
Gpatch4	C	T	3: 87,962,047 (GRCm39)	R155*	probably null	Het
Grik1	T	G	16: 87,693,760 (GRCm39)	R862S	probably benign	Het
Hectd1	A	C	12: 51,792,875 (GRCm39)		probably null	Het
Ift122	T	C	6: 115,892,972 (GRCm39)	W919R	probably damaging	Het
Iqgap2	A	T	13: 95,858,194 (GRCm39)		probably null	Het
Kcnq4	A	T	4: 120,573,066 (GRCm39)	I245N	probably damaging	Het
Map3k3	G	T	11: 105,987,874 (GRCm39)	R21L	probably benign	Het
Mllt10	T	C	2: 18,215,604 (GRCm39)	V1063A	probably damaging	Het
Msr1	A	T	8: 40,084,360 (GRCm39)	V65E	probably damaging	Het
Myom2	A	T	8: 15,113,903 (GRCm39)	D17V	probably damaging	Het
Naaladl1	T	A	19: 6,159,785 (GRCm39)		probably null	Het
Naip6	T	C	13: 100,444,741 (GRCm39)	Y239C	possibly damaging	Het
Nckap1	C	A	2: 80,360,551 (GRCm39)	D533Y	probably damaging	Het
Ndufs2	T	C	1: 171,064,185 (GRCm39)	E375G	probably damaging	Het
Nsd1	T	C	13: 55,439,097 (GRCm39)	V1605A	probably damaging	Het
Or52ae9	C	A	7: 103,389,994 (GRCm39)	R151L	probably damaging	Het
Or5ac17	T	A	16: 59,036,916 (GRCm39)	H20L	probably benign	Het
Or5b114-ps1	A	T	19: 13,352,647 (GRCm39)	Y107F	probably benign	Het
Or7e176	T	A	9: 20,171,754 (GRCm39)	M206K	probably benign	Het
Pcp2	G	A	8: 3,673,543 (GRCm39)		probably null	Het
Pdgfra	A	G	5: 75,334,057 (GRCm39)	S377G	probably damaging	Het
Reep5	A	T	18: 34,505,511 (GRCm39)	Y53*	probably null	Het
Ric1	T	C	19: 29,572,842 (GRCm39)	S761P	probably damaging	Het
Satb1	T	C	17: 52,082,404 (GRCm39)	T417A	possibly damaging	Het
Slc1a7	T	A	4: 107,859,379 (GRCm39)	M156K	possibly damaging	Het
Slc4a10	A	G	2: 62,041,789 (GRCm39)	E123G	probably damaging	Het
Slc66a1	A	G	4: 139,027,556 (GRCm39)	V262A	probably benign	Het
Snupn	C	A	9: 56,890,108 (GRCm39)	Q310K	possibly damaging	Het
Stard13	A	T	5: 150,965,707 (GRCm39)	V916E	probably damaging	Het
Tlr1	T	C	5: 65,082,556 (GRCm39)	R674G	possibly damaging	Het
Tnfsf11	A	G	14: 78,545,299 (GRCm39)	Y11H	probably damaging	Het
Tnr	T	A	1: 159,714,692 (GRCm39)	V857E	probably benign	Het
Tubgcp5	A	G	7: 55,456,526 (GRCm39)	I373V	probably benign	Het
Ush2a	A	T	1: 188,090,160 (GRCm39)	R414S	possibly damaging	Het
Vmn2r100	T	C	17: 19,742,576 (GRCm39)	S317P	probably benign	Het
Wdr49	A	T	3: 75,230,989 (GRCm39)	F558I	probably benign	Het
Zfyve16	A	G	13: 92,648,105 (GRCm39)	I983T	probably benign	Het

Other mutations in Or4k42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00958:Or4k42	APN	2	111,319,565 (GRCm39)	makesense	probably null
IGL01418:Or4k42	APN	2	111,319,984 (GRCm39)	missense	probably benign	0.37
IGL02288:Or4k42	APN	2	111,320,065 (GRCm39)	missense	probably benign	0.09
IGL02507:Or4k42	APN	2	111,319,768 (GRCm39)	missense	possibly damaging	0.87
IGL02508:Or4k42	APN	2	111,320,180 (GRCm39)	missense	probably damaging	1.00
IGL02951:Or4k42	APN	2	111,320,465 (GRCm39)	missense	probably benign	0.00
IGL03357:Or4k42	APN	2	111,320,289 (GRCm39)	missense	probably benign	0.01
R1101:Or4k42	UTSW	2	111,319,787 (GRCm39)	missense	probably damaging	1.00
R2256:Or4k42	UTSW	2	111,320,323 (GRCm39)	missense	probably damaging	1.00
R2420:Or4k42	UTSW	2	111,319,602 (GRCm39)	splice site	probably null
R4672:Or4k42	UTSW	2	111,319,902 (GRCm39)	missense	possibly damaging	0.66
R4715:Or4k42	UTSW	2	111,320,089 (GRCm39)	missense	probably benign
R4855:Or4k42	UTSW	2	111,320,293 (GRCm39)	missense	probably damaging	1.00
R6011:Or4k42	UTSW	2	111,320,192 (GRCm39)	missense	probably benign	0.03
R6156:Or4k42	UTSW	2	111,320,095 (GRCm39)	missense	probably damaging	1.00
R6702:Or4k42	UTSW	2	111,320,454 (GRCm39)	splice site	probably null
R6703:Or4k42	UTSW	2	111,320,454 (GRCm39)	splice site	probably null
R7413:Or4k42	UTSW	2	111,319,933 (GRCm39)	missense	probably benign	0.18
R7861:Or4k42	UTSW	2	111,320,369 (GRCm39)	missense	probably damaging	0.99
R8007:Or4k42	UTSW	2	111,320,068 (GRCm39)	missense	probably damaging	1.00
R8914:Or4k42	UTSW	2	111,320,004 (GRCm39)	missense	probably damaging	1.00
R8947:Or4k42	UTSW	2	111,320,042 (GRCm39)	missense	probably benign	0.02
R9003:Or4k42	UTSW	2	111,320,411 (GRCm39)	missense	probably benign	0.11
R9396:Or4k42	UTSW	2	111,319,864 (GRCm39)	missense	probably benign	0.22
Z1176:Or4k42	UTSW	2	111,320,222 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACTGAGGAAAGCCACATATC -3'
(R):5'- GGAAAGTAGCCTCCCTCATAC -3'

Sequencing Primer
(F):5'- CCACATATCAATAAAGGACAGGTTG -3'
(R):5'- GAAAGTAGCCTCCCTCATACCTCTAG -3'

Posted On

2017-10-10