Mutagenetix > Incidental Mutations

Incidental Mutation 'R2882:Kremen1'

260355

Institutional Source

Beutler Lab

Gene Symbol

Kremen1

Ensembl Gene

ENSMUSG00000020393

Gene Name

kringle containing transmembrane protein 1

Synonyms

Krm1

MMRRC Submission

040470-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R2882 (G1)

Quality Score

157

Status

Not validated

Chromosome

Chromosomal Location

5191552-5261558 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

CGGG to CGGGGGG at 5201791 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020662]

Predicted Effect

probably benign
Transcript: ENSMUST00000020662

SMART Domains

Protein: ENSMUSP00000020662
Gene: ENSMUSG00000020393

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
KR	30	116	9.81e-23	SMART
Pfam:WSC	119	200	3.7e-21	PFAM
CUB	214	321	4.27e-19	SMART
transmembrane domain	391	413	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151978

SMART Domains

Protein: ENSMUSP00000121252
Gene: ENSMUSG00000020393

Domain	Start	End	E-Value	Type
Pfam:WSC	17	98	2.3e-22	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor that functionally cooperates with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein is a component of a membrane complex that modulates canonical WNT signaling through lipoprotein receptor-related protein 6 (LRP6). It contains extracellular kringle, WSC, and CUB domains. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit no abnormal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	C	A	13: 59,742,943	Q354H	probably benign	Het
AF529169	C	T	9: 89,602,802	V181I	possibly damaging	Het
Atp9a	T	C	2: 168,706,214	Y7C	probably damaging	Het
Atxn3	C	A	12: 101,937,411	L178F	probably damaging	Het
Cep112	T	C	11: 108,519,212	S211P	possibly damaging	Het
Csl	A	G	10: 99,758,925	F93L	probably damaging	Het
Cyp4f40	A	G	17: 32,668,073	I173V	probably benign	Het
Dcaf17	A	G	2: 71,082,027	I319V	possibly damaging	Het
Dock5	T	C	14: 67,839,620	Y258C	probably damaging	Het
Dpp10	T	C	1: 123,445,203	E236G	probably damaging	Het
Dpyd	A	G	3: 119,065,030	D631G	probably damaging	Het
Ewsr1	C	A	11: 5,078,523		probably benign	Het
Fat2	C	A	11: 55,311,305	L314F	probably damaging	Het
Gsdmc	T	C	15: 63,779,795	I259V	probably benign	Het
Hydin	C	T	8: 110,566,923	L3501F	possibly damaging	Het
Kdm2a	A	G	19: 4,331,184		probably null	Het
Klra1	A	T	6: 130,377,863		probably null	Het
Mlh3	A	T	12: 85,267,566	H615Q	probably damaging	Het
Mmp12	A	G	9: 7,358,236	Y374C	probably damaging	Het
Mpp2	T	C	11: 102,064,633	E97G	probably benign	Het
Oasl2	C	T	5: 114,911,023	R175C	probably damaging	Het
Olfr348	A	T	2: 36,787,190	I222F	probably damaging	Het
Pcdhac2	A	T	18: 37,145,812	Q615L	probably damaging	Het
Ppm1h	T	A	10: 122,941,334	Y502N	probably damaging	Het
Slc5a11	GGTGC	G	7: 123,239,372		probably null	Het
Tex15	T	A	8: 33,574,907	L1455*	probably null	Het
Tgm6	T	C	2: 130,137,439	V163A	probably benign	Het
Tlr5	C	T	1: 182,973,893	T240M	probably damaging	Het
Washc4	T	C	10: 83,579,501	I785T	possibly damaging	Het

Other mutations in Kremen1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01813:Kremen1	APN	11	5199667	missense	probably benign	0.00
R0038:Kremen1	UTSW	11	5207703	splice site	probably benign
R0511:Kremen1	UTSW	11	5215447	missense	probably damaging	1.00
R1557:Kremen1	UTSW	11	5215373	splice site	probably null
R1579:Kremen1	UTSW	11	5201791	unclassified	probably benign
R1729:Kremen1	UTSW	11	5201791	unclassified	probably benign
R1784:Kremen1	UTSW	11	5201792	unclassified	probably benign
R1800:Kremen1	UTSW	11	5201791	unclassified	probably benign
R2079:Kremen1	UTSW	11	5201794	frame shift	probably null
R2100:Kremen1	UTSW	11	5201788	unclassified	probably benign
R2286:Kremen1	UTSW	11	5201791	unclassified	probably benign
R2298:Kremen1	UTSW	11	5201788	unclassified	probably benign
R2352:Kremen1	UTSW	11	5201791	unclassified	probably benign
R2512:Kremen1	UTSW	11	5201791	unclassified	probably benign
R2761:Kremen1	UTSW	11	5201792	unclassified	probably benign
R2846:Kremen1	UTSW	11	5201793	unclassified	probably benign
R2944:Kremen1	UTSW	11	5201791	unclassified	probably benign
R2980:Kremen1	UTSW	11	5201794	unclassified	probably benign
R3151:Kremen1	UTSW	11	5195012	missense	probably damaging	0.99
R3610:Kremen1	UTSW	11	5201791	unclassified	probably benign
R3831:Kremen1	UTSW	11	5201794	unclassified	probably benign
R3957:Kremen1	UTSW	11	5201791	unclassified	probably benign
R4231:Kremen1	UTSW	11	5243881	nonsense	probably null
R4397:Kremen1	UTSW	11	5199610	missense	probably benign	0.36
R5627:Kremen1	UTSW	11	5199709	missense	probably benign	0.01
R6818:Kremen1	UTSW	11	5195051	missense	probably benign	0.02
R7584:Kremen1	UTSW	11	5194964	missense	possibly damaging	0.95
T0975:Kremen1	UTSW	11	5195105	missense	probably benign	0.02
Y4339:Kremen1	UTSW	11	5201791	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTTGAAATGATCTGTAGCTGAGTC -3'
(R):5'- TGACTTCCCTGACACCTACG -3'

Sequencing Primer
(F):5'- TCAGGAGGACCAAGTGTGCC -3'
(R):5'- TGACACCTACGCCACTGG -3'

Posted On

2015-01-23