Mutagenetix > Incidental Mutation

Incidental Mutation 'R8914:Or4k42'

678800

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

068766-MU

Accession Numbers

Essential gene?

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

Stock #

R8914 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111319563-111324160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 111320004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 166 (L166F)

Ref Sequence

ENSEMBL: ENSMUSP00000150388 (fasta)

Gene Model

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

AlphaFold

Q7TQX8

Predicted Effect

probably damaging
Transcript: ENSMUST00000099616
AA Change: L166F

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

SMART Domains

Protein: ENSMUSP00000097211
Gene: ENSMUSG00000095809
AA Change: L166F

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

probably benign
Transcript: ENSMUST00000208695

Predicted Effect

probably benign
Transcript: ENSMUST00000208881

Predicted Effect

probably damaging
Transcript: ENSMUST00000217611
AA Change: L166F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (62/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417H12Rik	C	T	7: 107,223,922 (GRCm39)	E51K	unknown	Het
Akr1c20	T	C	13: 4,561,215 (GRCm39)	D146G	probably benign	Het
Anapc4	T	A	5: 53,000,843 (GRCm39)	C205*	probably null	Het
Ap3s2	A	G	7: 79,564,911 (GRCm39)	I86T	probably benign	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Atp9a	C	T	2: 168,479,420 (GRCm39)		probably null	Het
Bcl11b	C	A	12: 107,883,163 (GRCm39)	R384L	probably damaging	Het
Bltp3a	T	G	17: 28,105,887 (GRCm39)	D804E	possibly damaging	Het
Brca2	T	A	5: 150,465,208 (GRCm39)	D1657E	probably damaging	Het
Cabyr	C	A	18: 12,884,077 (GRCm39)	T188N	probably damaging	Het
Capn5	C	A	7: 97,784,997 (GRCm39)	W159L	probably damaging	Het
Ccdc121rt3	A	T	5: 112,503,087 (GRCm39)	Y206N	probably damaging	Het
Ccnl1	A	T	3: 65,854,080 (GRCm39)	S514T	unknown	Het
Cdk14	G	T	5: 5,086,515 (GRCm39)	H286Q	possibly damaging	Het
Cpsf3	T	A	12: 21,345,112 (GRCm39)	H141Q	probably damaging	Het
Ddx24	A	G	12: 103,390,665 (GRCm39)	S109P	possibly damaging	Het
Dnmt3a	A	T	12: 3,916,192 (GRCm39)	R126*	probably null	Het
Dpys	C	A	15: 39,720,619 (GRCm39)	R47L	probably benign	Het
Dync1li2	A	G	8: 105,152,090 (GRCm39)	V361A	probably benign	Het
Epha7	T	G	4: 28,963,892 (GRCm39)	D962E	probably damaging	Het
Erh	G	T	12: 80,684,282 (GRCm39)	A65E	probably benign	Het
Fyb2	T	C	4: 104,857,700 (GRCm39)	S626P	probably benign	Het
Gtpbp1	T	A	15: 79,600,393 (GRCm39)	V442D	probably damaging	Het
Hecw1	T	A	13: 14,422,188 (GRCm39)	I973F	probably damaging	Het
Igkv1-99	A	C	6: 68,519,340 (GRCm39)	K99T		Het
Igkv6-14	C	T	6: 70,412,180 (GRCm39)	V35I	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Klk1b9	C	T	7: 43,628,925 (GRCm39)	T143I	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Mettl15	A	C	2: 108,967,625 (GRCm39)		probably benign	Het
Mki67	A	G	7: 135,299,595 (GRCm39)	V1813A		Het
Mrps30	A	G	13: 118,523,755 (GRCm39)	Y6H	possibly damaging	Het
Mthfd1	T	A	12: 76,329,710 (GRCm39)	I176K	probably benign	Het
Nckap5l	C	T	15: 99,323,761 (GRCm39)	G914D	probably damaging	Het
Nemf	C	A	12: 69,363,089 (GRCm39)	E930*	probably null	Het
Nuggc	G	A	14: 65,879,354 (GRCm39)	V705I	probably benign	Het
Omd	A	T	13: 49,745,718 (GRCm39)	K376M	probably damaging	Het
Or10a3n	T	C	7: 108,492,736 (GRCm39)	R298G	probably damaging	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or51l14	T	A	7: 103,101,090 (GRCm39)	L182Q	probably damaging	Het
Or5g27	A	G	2: 85,410,056 (GRCm39)	T158A	possibly damaging	Het
Or5p68	A	G	7: 107,945,759 (GRCm39)	V143A	probably benign	Het
Or6c200-ps1	C	A	10: 128,871,372 (GRCm39)	M2I	probably benign	Het
Pi15	A	G	1: 17,691,962 (GRCm39)	Y217C	probably damaging	Het
Pou5f1	T	C	17: 35,821,371 (GRCm39)	S328P	probably benign	Het
Pparg	T	A	6: 115,440,133 (GRCm39)	S236T	probably benign	Het
Prss23	T	C	7: 89,159,854 (GRCm39)	T72A	probably benign	Het
Ptprb	C	A	10: 116,158,567 (GRCm39)	S546*	probably null	Het
Ranbp9	A	G	13: 43,578,560 (GRCm39)	I171T	probably benign	Het
Rap1gap2	A	T	11: 74,326,587 (GRCm39)	L160*	probably null	Het
Rfxap	T	C	3: 54,715,042 (GRCm39)	T19A	probably benign	Het
Sctr	T	A	1: 119,959,386 (GRCm39)	F95I	probably benign	Het
Sf3b3	T	A	8: 111,540,439 (GRCm39)	Q994L	probably benign	Het
Slfn9	A	T	11: 82,872,132 (GRCm39)	I868N	probably damaging	Het
Top3a	A	T	11: 60,631,405 (GRCm39)	C986S	probably damaging	Het
Trak1	T	A	9: 121,272,847 (GRCm39)	L245Q	unknown	Het
Trim27	A	G	13: 21,364,993 (GRCm39)	D110G	possibly damaging	Het
Ubxn2a	T	C	12: 4,930,754 (GRCm39)	D202G	probably benign	Het
Urb1	T	C	16: 90,607,122 (GRCm39)	K36R	probably damaging	Het
Usp34	A	G	11: 23,293,604 (GRCm39)	T252A		Het
Vmn1r73	C	A	7: 11,490,328 (GRCm39)	H49N	probably damaging	Het
Vmn2r117	C	T	17: 23,679,143 (GRCm39)	V694I	probably benign	Het
Vmn2r26	T	C	6: 124,038,983 (GRCm39)	F853L	probably benign	Het
Vmn2r55	A	T	7: 12,405,024 (GRCm39)	H126Q	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
R6141:Or4k42	UTSW	2	111,320,464 (GRCm39)	missense	probably benign	0.34
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
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'- TTGCCTTAGATGCACCAGC -3'
(R):5'- TGCCCATTGTATTGCTGCAG -3'

Sequencing Primer
(F):5'- GCCTTAGATGCACCAGCTTTAGAG -3'
(R):5'- CCCATTGTATTGCTGCAGGAGAG -3'

Posted On

2021-08-02