Mutagenetix > Incidental Mutation

Incidental Mutation 'R7112:Or4k5'

551582

Institutional Source

Beutler Lab

Gene Symbol

Or4k5

Ensembl Gene

ENSMUSG00000049011

Gene Name

olfactory receptor family 4 subfamily K member 5

Synonyms

MOR246-6, GA_x6K02T2PMLR-5839874-5838903, Olfr729

MMRRC Submission

045204-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R7112 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50385358-50386329 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 50385392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 313 (E313A)

Ref Sequence

ENSEMBL: ENSMUSP00000149189 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061020] [ENSMUST00000213163] [ENSMUST00000215327] [ENSMUST00000215451]

AlphaFold

Q8VET4

Predicted Effect

probably benign
Transcript: ENSMUST00000061020
AA Change: E313A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000051755
Gene: ENSMUSG00000049011
AA Change: E313A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	8.3e-46	PFAM
Pfam:7TM_GPCR_Srsx	35	286	1.4e-5	PFAM
Pfam:7tm_1	41	287	2.4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213163
AA Change: E313A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000215327
AA Change: E313A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000215451
AA Change: E313A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	G	T	12: 112,747,747 (GRCm39)	A1036E		Het
Baz2b	A	T	2: 59,792,528 (GRCm39)	H533Q	possibly damaging	Het
Bcl2l11	T	A	2: 128,000,235 (GRCm39)	W193R	probably damaging	Het
Bcl2l12	C	T	7: 44,646,338 (GRCm39)	G24D	probably damaging	Het
Cacna1b	A	G	2: 24,580,773 (GRCm39)	V691A	probably damaging	Het
Cdh8	T	C	8: 99,922,984 (GRCm39)	D304G	probably damaging	Het
Ces3a	A	T	8: 105,784,594 (GRCm39)	Q525H	probably damaging	Het
Csmd1	C	A	8: 16,151,142 (GRCm39)	C1391F	probably damaging	Het
Cul7	G	T	17: 46,962,624 (GRCm39)	G85V	probably damaging	Het
Dnah8	G	A	17: 31,090,366 (GRCm39)	V4623I	possibly damaging	Het
Dnhd1	T	A	7: 105,363,192 (GRCm39)	L3918Q	probably damaging	Het
Exoc4	A	T	6: 33,898,423 (GRCm39)	N881Y	probably damaging	Het
Flt1	G	C	5: 147,540,379 (GRCm39)	A770G	probably damaging	Het
Fndc5	A	G	4: 129,035,915 (GRCm39)	N184S	probably benign	Het
Folh1	A	G	7: 86,424,845 (GRCm39)		probably null	Het
Frem3	A	T	8: 81,338,660 (GRCm39)	T318S	probably damaging	Het
Gba2	A	G	4: 43,568,453 (GRCm39)	V671A	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Jph2	G	A	2: 163,217,704 (GRCm39)	T324M	probably damaging	Het
Kank4	A	G	4: 98,649,758 (GRCm39)	V937A	probably damaging	Het
Kdm3a	T	A	6: 71,609,154 (GRCm39)	E24D	probably benign	Het
Kidins220	T	A	12: 25,054,018 (GRCm39)	L464Q	probably damaging	Het
Loxhd1	T	A	18: 77,476,210 (GRCm39)	V1159E	probably damaging	Het
Malrd1	A	G	2: 15,929,987 (GRCm39)	N1498D	unknown	Het
Mplkipl1	T	G	19: 61,163,997 (GRCm39)	D146A	probably damaging	Het
Mrgprb5	C	T	7: 47,818,655 (GRCm39)	V27I	probably benign	Het
Mtfr2	A	G	10: 20,233,312 (GRCm39)	N294D	probably damaging	Het
Muc6	A	T	7: 141,235,542 (GRCm39)	L498H	probably damaging	Het
N4bp2	A	G	5: 65,948,050 (GRCm39)	T227A	possibly damaging	Het
Nin	C	T	12: 70,149,573 (GRCm39)	R12Q		Het
Obscn	G	C	11: 58,920,151 (GRCm39)	A27G		Het
Or11h7	T	A	14: 50,891,583 (GRCm39)	D296E	probably benign	Het
Or52r1b	G	A	7: 102,690,862 (GRCm39)	D54N	probably damaging	Het
Or8b48	T	A	9: 38,493,330 (GRCm39)	Y252*	probably null	Het
Or8s5	T	A	15: 98,238,421 (GRCm39)	M150L	possibly damaging	Het
Polr2a	A	G	11: 69,626,135 (GRCm39)	S1672P	unknown	Het
Qprt	A	G	7: 126,707,361 (GRCm39)	V245A	probably damaging	Het
Rab11fip5	T	A	6: 85,325,176 (GRCm39)	E377V	probably damaging	Het
Rere	A	G	4: 150,491,061 (GRCm39)	T71A	probably benign	Het
Ret	A	T	6: 118,174,063 (GRCm39)	L11Q	possibly damaging	Het
Rp1	C	T	1: 4,419,241 (GRCm39)	V624I	probably benign	Het
Scaf8	T	A	17: 3,213,304 (GRCm39)	L131H	unknown	Het
Scgb2a2	A	G	19: 9,829,021 (GRCm39)	R58G	probably benign	Het
Scn11a	A	G	9: 119,583,875 (GRCm39)	I1580T	probably damaging	Het
Slco4c1	T	G	1: 96,768,866 (GRCm39)	K332T	probably damaging	Het
Sntg1	T	G	1: 8,518,289 (GRCm39)	Y368S	possibly damaging	Het
Stim1	A	G	7: 102,057,615 (GRCm39)	T143A	probably benign	Het
Tbr1	A	G	2: 61,642,160 (GRCm39)	D475G	probably benign	Het
Tcp1	A	G	17: 13,136,760 (GRCm39)	D47G	probably damaging	Het
Tpgs2	T	C	18: 25,282,194 (GRCm39)	D119G	probably damaging	Het
Trim40	C	A	17: 37,193,534 (GRCm39)	R225M	probably null	Het
Tro	GCAGTGCTTGGTCCTCCGAAGCCACCTCCAGTGCTTGGTCCTCCGAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTATTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCC	GCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTATTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCC	X: 149,428,852 (GRCm39)		probably benign	Het
Trpm1	A	T	7: 63,885,593 (GRCm39)	N870Y	probably damaging	Het
Tsr3	A	G	17: 25,459,445 (GRCm39)	D47G	probably benign	Het
Vil1	G	A	1: 74,455,161 (GRCm39)	G38R	probably damaging	Het
Vmn2r91	A	T	17: 18,325,880 (GRCm39)	Q166L	possibly damaging	Het
Wdr33	C	T	18: 32,026,056 (GRCm39)	T919I	unknown	Het
Wdr36	T	C	18: 32,972,504 (GRCm39)	V64A	probably benign	Het
Xpnpep1	T	C	19: 52,998,538 (GRCm39)	I237V	probably benign	Het
Zfp780b	A	T	7: 27,662,566 (GRCm39)	I663N	probably damaging	Het
Zfyve9	G	A	4: 108,507,519 (GRCm39)	A513V	probably benign	Het

Other mutations in Or4k5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01802:Or4k5	APN	14	50,386,173 (GRCm39)	missense	probably benign	0.38
IGL02736:Or4k5	APN	14	50,385,881 (GRCm39)	missense	probably benign	0.01
IGL02798:Or4k5	APN	14	50,385,835 (GRCm39)	missense	probably benign
IGL03267:Or4k5	APN	14	50,386,304 (GRCm39)	missense	probably damaging	1.00
R0082:Or4k5	UTSW	14	50,385,512 (GRCm39)	missense	probably damaging	0.97
R0225:Or4k5	UTSW	14	50,386,092 (GRCm39)	missense	probably damaging	1.00
R0503:Or4k5	UTSW	14	50,385,935 (GRCm39)	missense	probably damaging	1.00
R1022:Or4k5	UTSW	14	50,385,384 (GRCm39)	missense	probably benign
R1024:Or4k5	UTSW	14	50,385,384 (GRCm39)	missense	probably benign
R1424:Or4k5	UTSW	14	50,385,922 (GRCm39)	missense	possibly damaging	0.83
R1440:Or4k5	UTSW	14	50,385,815 (GRCm39)	missense	probably damaging	1.00
R1479:Or4k5	UTSW	14	50,386,245 (GRCm39)	missense	probably benign	0.00
R1583:Or4k5	UTSW	14	50,386,231 (GRCm39)	missense	probably benign	0.00
R1817:Or4k5	UTSW	14	50,385,728 (GRCm39)	missense	probably benign	0.00
R2155:Or4k5	UTSW	14	50,386,154 (GRCm39)	missense	probably damaging	1.00
R2282:Or4k5	UTSW	14	50,385,776 (GRCm39)	missense	probably benign
R2926:Or4k5	UTSW	14	50,385,893 (GRCm39)	missense	probably benign	0.19
R3790:Or4k5	UTSW	14	50,386,026 (GRCm39)	missense	possibly damaging	0.51
R4073:Or4k5	UTSW	14	50,385,500 (GRCm39)	missense	possibly damaging	0.55
R5945:Or4k5	UTSW	14	50,386,220 (GRCm39)	missense	probably benign
R6714:Or4k5	UTSW	14	50,385,671 (GRCm39)	missense	possibly damaging	0.95
R7157:Or4k5	UTSW	14	50,385,689 (GRCm39)	missense	probably damaging	1.00
R7511:Or4k5	UTSW	14	50,385,713 (GRCm39)	missense	probably damaging	1.00
R7815:Or4k5	UTSW	14	50,386,253 (GRCm39)	missense	probably benign	0.36
R8833:Or4k5	UTSW	14	50,385,823 (GRCm39)	nonsense	probably null
R9486:Or4k5	UTSW	14	50,385,672 (GRCm39)	missense	probably benign	0.21
R9608:Or4k5	UTSW	14	50,386,055 (GRCm39)	missense	probably benign	0.35
Z1177:Or4k5	UTSW	14	50,386,308 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTTACATTTACCTATTACCAAGGC -3'
(R):5'- GCATCTTCATTTATGTGTGGCC -3'

Sequencing Primer
(F):5'- CAATTAGTGCATACATACCACTCTG -3'
(R):5'- GTGGCCATTTACTACCTATCCTGTGG -3'

Posted On

2019-05-15