Mutagenetix > Incidental Mutation

Incidental Mutation 'R7192:Or4k1'

559681

Institutional Source

Beutler Lab

Gene Symbol

Or4k1

Ensembl Gene

ENSMUSG00000050030

Gene Name

olfactory receptor family 4 subfamily K member 1

Synonyms

Olfr728, GA_x6K02T2PMLR-5831021-5830086, MOR246-1P

MMRRC Submission

045333-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.512) question?

Stock #

R7192 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50377159-50378094 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50377577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 173 (E173G)

Ref Sequence

ENSEMBL: ENSMUSP00000149796 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051563] [ENSMUST00000213163] [ENSMUST00000213685] [ENSMUST00000215327] [ENSMUST00000215451]

AlphaFold

Q7TRM6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051563
AA Change: E173G

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000052079
Gene: ENSMUSG00000050030
AA Change: E173G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	9.8e-43	PFAM
Pfam:7TM_GPCR_Srx	31	304	9.8e-7	PFAM
Pfam:7TM_GPCR_Srsx	35	297	6.5e-9	PFAM
Pfam:7tm_1	41	287	1e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213163

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213685
AA Change: E173G

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000215327

Predicted Effect

probably benign
Transcript: ENSMUST00000215451

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (72/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	G	A	2: 30,686,188 (GRCm39)	T329I	probably damaging	Het
Actl6a	C	A	3: 32,774,373 (GRCm39)	P290H	probably damaging	Het
Akap9	T	A	5: 4,055,723 (GRCm39)		probably null	Het
Anxa2r2	T	A	13: 120,488,241 (GRCm39)	K103*	probably null	Het
Bach1	C	T	16: 87,526,551 (GRCm39)	S671L	possibly damaging	Het
Cacna1c	T	C	6: 118,633,210 (GRCm39)	I1099V		Het
Cage1	G	T	13: 38,203,220 (GRCm39)	P615T	probably benign	Het
Caskin2	C	A	11: 115,692,202 (GRCm39)	R861L	probably damaging	Het
Cc2d2b	A	G	19: 40,762,881 (GRCm39)	T386A	unknown	Het
Ccndbp1	A	G	2: 120,843,424 (GRCm39)	D272G	probably damaging	Het
Cep192	T	A	18: 67,983,599 (GRCm39)	V1553E	probably damaging	Het
Cfhr4	T	A	1: 139,667,033 (GRCm39)	H414L	probably damaging	Het
Chrm5	C	T	2: 112,310,672 (GRCm39)	G148D	probably damaging	Het
Cntnap4	T	C	8: 113,608,432 (GRCm39)	V1284A	probably benign	Het
Cpd	T	C	11: 76,705,667 (GRCm39)	Y355C	probably damaging	Het
Csmd3	C	T	15: 47,567,633 (GRCm39)	V1266I		Het
Cyfip2	T	C	11: 46,145,493 (GRCm39)	E609G	probably benign	Het
Dbr1	T	C	9: 99,458,755 (GRCm39)		probably null	Het
Dmxl1	T	C	18: 50,088,920 (GRCm39)	Y2800H	probably damaging	Het
Dnajc6	G	T	4: 101,455,000 (GRCm39)	A64S	probably benign	Het
Dpp8	A	T	9: 64,953,068 (GRCm39)	N248I	possibly damaging	Het
Dsp	A	T	13: 38,379,569 (GRCm39)	I2105F	probably benign	Het
Edem1	G	A	6: 108,805,965 (GRCm39)	V89M	probably benign	Het
Eml4	A	G	17: 83,761,890 (GRCm39)	Q528R	probably benign	Het
Epb42	A	T	2: 120,854,578 (GRCm39)	V669D	unknown	Het
Fat4	A	T	3: 39,034,613 (GRCm39)	Q2755L	probably benign	Het
Gata6	A	G	18: 11,054,475 (GRCm39)	K135E	possibly damaging	Het
Gmeb1	A	T	4: 131,955,201 (GRCm39)	F325I	probably benign	Het
H2-M10.3	C	T	17: 36,677,451 (GRCm39)	E276K	probably damaging	Het
H4c17	A	T	13: 21,996,227 (GRCm39)	K92*	probably null	Het
Ifi207	T	C	1: 173,556,584 (GRCm39)	N718S	not run	Het
Il6st	A	G	13: 112,631,741 (GRCm39)	N427D	probably benign	Het
Kat7	T	A	11: 95,166,656 (GRCm39)	M509L	probably benign	Het
Klk1b4	T	C	7: 43,859,045 (GRCm39)	V21A	probably benign	Het
Malt1	T	A	18: 65,570,898 (GRCm39)	L78Q	probably benign	Het
Mertk	A	G	2: 128,635,028 (GRCm39)		probably null	Het
Myo1b	A	G	1: 51,796,376 (GRCm39)	L1016P	probably damaging	Het
Neu4	A	G	1: 93,952,863 (GRCm39)	I411V	probably benign	Het
Nutm2	A	T	13: 50,627,105 (GRCm39)	D420V	probably damaging	Het
Or10j3b	T	A	1: 173,043,575 (GRCm39)	M119K	probably damaging	Het
Or2w2	A	G	13: 21,758,539 (GRCm39)	L29P	probably damaging	Het
Or5ac24	T	C	16: 59,165,542 (GRCm39)	D174G	probably benign	Het
Pcdha12	C	T	18: 37,153,316 (GRCm39)	R12W	probably benign	Het
Pdgfra	G	T	5: 75,343,767 (GRCm39)	D763Y	probably damaging	Het
Pkd2	T	C	5: 104,634,523 (GRCm39)	V518A	probably benign	Het
Prb1a	G	T	6: 132,184,335 (GRCm39)	P433T	unknown	Het
Ptrh2	A	G	11: 86,580,835 (GRCm39)	T151A	probably damaging	Het
Qars1	T	A	9: 108,388,760 (GRCm39)	N273K	probably damaging	Het
Robo2	T	C	16: 73,717,638 (GRCm39)	Y1154C	probably benign	Het
Rps6kc1	T	A	1: 190,532,556 (GRCm39)	D482V	probably damaging	Het
Sec16b	T	C	1: 157,357,013 (GRCm39)	S74P	probably benign	Het
Serpinb2	A	T	1: 107,452,306 (GRCm39)	I295F	probably damaging	Het
Sh3pxd2b	T	A	11: 32,364,318 (GRCm39)	D301E	probably damaging	Het
Sipa1l2	G	A	8: 126,149,348 (GRCm39)	T1637I	probably benign	Het
Slc27a4	A	T	2: 29,695,941 (GRCm39)	N159Y	probably damaging	Het
Stat1	A	C	1: 52,174,780 (GRCm39)	K161Q	possibly damaging	Het
Stc2	T	C	11: 31,319,872 (GRCm39)		probably benign	Het
Strip1	A	G	3: 107,522,651 (GRCm39)	W681R	possibly damaging	Het
Sv2a	G	A	3: 96,101,062 (GRCm39)	G687S	probably damaging	Het
Thnsl2	C	T	6: 71,116,739 (GRCm39)	V138I	probably benign	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Tnfrsf1a	T	C	6: 125,338,559 (GRCm39)	S235P	unknown	Het
Tpbg	T	A	9: 85,726,085 (GRCm39)	L18*	probably null	Het
Trabd2b	A	T	4: 114,467,217 (GRCm39)	Q482L	possibly damaging	Het
Trim35	T	A	14: 66,534,895 (GRCm39)	F126Y	probably damaging	Het
Ttn	A	T	2: 76,658,288 (GRCm39)	V12364D	unknown	Het
Ubac2	A	G	14: 122,211,128 (GRCm39)	Y166C	probably damaging	Het
Unc13b	T	A	4: 43,258,519 (GRCm39)	V1320D	probably damaging	Het
Usp34	T	A	11: 23,410,571 (GRCm39)	Y2693N		Het
Utp20	A	T	10: 88,608,321 (GRCm39)	M1572K	probably benign	Het
Vmn1r7	C	T	6: 57,001,452 (GRCm39)	M269I	probably benign	Het
Vmn2r3	C	T	3: 64,167,364 (GRCm39)	G589D	probably benign	Het
Vrtn	A	T	12: 84,695,636 (GRCm39)	M129L	probably damaging	Het
Zfp273	A	T	13: 67,973,183 (GRCm39)	T104S	possibly damaging	Het
Zfp384	T	A	6: 125,010,275 (GRCm39)	N390K	probably damaging	Het
Znfx1	A	G	2: 166,884,110 (GRCm39)	M933T	probably benign	Het

Other mutations in Or4k1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01101:Or4k1	APN	14	50,377,511 (GRCm39)	missense	probably benign	0.06
IGL02080:Or4k1	APN	14	50,377,579 (GRCm39)	missense	probably damaging	1.00
IGL03187:Or4k1	APN	14	50,377,257 (GRCm39)	missense	probably damaging	0.98
R1613:Or4k1	UTSW	14	50,377,751 (GRCm39)	missense	probably damaging	1.00
R1671:Or4k1	UTSW	14	50,377,290 (GRCm39)	missense	probably damaging	1.00
R1876:Or4k1	UTSW	14	50,377,629 (GRCm39)	missense	probably damaging	0.99
R2085:Or4k1	UTSW	14	50,377,580 (GRCm39)	missense	probably damaging	1.00
R2086:Or4k1	UTSW	14	50,377,580 (GRCm39)	missense	probably damaging	1.00
R2158:Or4k1	UTSW	14	50,377,580 (GRCm39)	missense	probably damaging	1.00
R2226:Or4k1	UTSW	14	50,378,076 (GRCm39)	missense	probably damaging	1.00
R2516:Or4k1	UTSW	14	50,377,440 (GRCm39)	missense	probably benign
R4454:Or4k1	UTSW	14	50,377,953 (GRCm39)	missense	probably benign	0.00
R4714:Or4k1	UTSW	14	50,377,436 (GRCm39)	missense	possibly damaging	0.55
R4754:Or4k1	UTSW	14	50,377,491 (GRCm39)	missense	probably benign	0.02
R4754:Or4k1	UTSW	14	50,377,490 (GRCm39)	missense	possibly damaging	0.90
R5275:Or4k1	UTSW	14	50,377,953 (GRCm39)	missense	probably benign	0.35
R5339:Or4k1	UTSW	14	50,377,759 (GRCm39)	missense	probably damaging	0.96
R6614:Or4k1	UTSW	14	50,377,821 (GRCm39)	missense	probably damaging	1.00
R6713:Or4k1	UTSW	14	50,377,181 (GRCm39)	missense	probably benign
R6900:Or4k1	UTSW	14	50,377,295 (GRCm39)	missense	possibly damaging	0.94
R7062:Or4k1	UTSW	14	50,377,907 (GRCm39)	missense	probably damaging	1.00
R7528:Or4k1	UTSW	14	50,377,277 (GRCm39)	missense	possibly damaging	0.93
R7740:Or4k1	UTSW	14	50,377,803 (GRCm39)	missense	probably benign	0.05
R9198:Or4k1	UTSW	14	50,377,990 (GRCm39)	nonsense	probably null
R9215:Or4k1	UTSW	14	50,377,829 (GRCm39)	missense	probably benign
R9380:Or4k1	UTSW	14	50,377,770 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGGCTTTGGATGACCCAC -3'
(R):5'- GAGGGTTGTATGGCTCAAATATTTC -3'

Sequencing Primer
(F):5'- CTTTGGATGACCCACTAGAGGACTG -3'
(R):5'- AGTGAAATGATGTTGCTTGTAGC -3'

Posted On

2019-06-26