Mutagenetix > Incidental Mutation

Incidental Mutation 'R2352:Kremen1'

246209

Institutional Source

Beutler Lab

Gene Symbol

Kremen1

Ensembl Gene

ENSMUSG00000020393

Gene Name

kringle containing transmembrane protein 1

Synonyms

Krm1

MMRRC Submission

040334-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R2352 (G1)

Quality Score

147

Status

Not validated

Chromosome

Chromosomal Location

5141552-5211558 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

CGGG to CGGGGGG at 5151791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q99N43

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.0%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd28	C	T	14: 31,432,904 (GRCm39)	V548I	probably benign	Het
Aspm	T	C	1: 139,385,300 (GRCm39)	S315P	probably benign	Het
Caln1	G	T	5: 130,534,993 (GRCm39)	E70*	probably null	Het
Cd69	A	T	6: 129,246,567 (GRCm39)	W114R	probably damaging	Het
Cnbd2	T	C	2: 156,177,275 (GRCm39)	Y90H	probably damaging	Het
Crebrf	C	T	17: 26,961,320 (GRCm39)	S147F	probably damaging	Het
Cts7	A	T	13: 61,500,586 (GRCm39)	C320*	probably null	Het
Dgat1	T	C	15: 76,386,513 (GRCm39)	I474V	possibly damaging	Het
Dmxl2	T	A	9: 54,301,146 (GRCm39)	I2322F	probably damaging	Het
Dnah11	A	T	12: 117,892,065 (GRCm39)	F3703I	probably damaging	Het
Foxb2	A	G	19: 16,850,433 (GRCm39)	L191P	unknown	Het
Gli3	A	T	13: 15,836,977 (GRCm39)	E453D	probably benign	Het
Gnl3	C	T	14: 30,738,783 (GRCm39)		probably null	Het
Golgb1	A	T	16: 36,718,921 (GRCm39)	T276S	probably damaging	Het
Grk4	T	C	5: 34,826,520 (GRCm39)	M40T	probably benign	Het
Hoxb1	A	G	11: 96,257,203 (GRCm39)	N184S	possibly damaging	Het
Insr	G	T	8: 3,242,593 (GRCm39)	T42N	probably damaging	Het
Iqgap3	A	G	3: 88,011,815 (GRCm39)	K836E	possibly damaging	Het
Leng9	T	A	7: 4,152,409 (GRCm39)	E89V	probably damaging	Het
Lhcgr	C	T	17: 89,049,727 (GRCm39)	V600I	possibly damaging	Het
Lima1	T	C	15: 99,692,396 (GRCm39)	N183S	probably benign	Het
Lmtk2	A	G	5: 144,110,729 (GRCm39)	D483G	probably benign	Het
Lpcat2b	T	G	5: 107,581,307 (GRCm39)	L212R	probably damaging	Het
Lrrc61	A	T	6: 48,545,806 (GRCm39)	I210F	probably benign	Het
Lypd8l	A	T	11: 58,503,676 (GRCm39)	L10H	probably damaging	Het
Lypd8l	G	A	11: 58,502,934 (GRCm39)	Q72*	probably null	Het
Med12l	C	T	3: 59,148,113 (GRCm39)	L977F	probably damaging	Het
Mical1	A	T	10: 41,358,229 (GRCm39)	D414V	probably benign	Het
Mmp14	C	T	14: 54,678,002 (GRCm39)	A541V	probably benign	Het
Mtmr10	A	G	7: 63,947,328 (GRCm39)	D81G	possibly damaging	Het
Myh1	G	A	11: 67,111,363 (GRCm39)	V1601M	probably benign	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Neb	T	C	2: 52,177,348 (GRCm39)	Y1331C	probably damaging	Het
Otop2	T	C	11: 115,219,927 (GRCm39)	S256P	probably damaging	Het
Prl8a1	A	G	13: 27,759,572 (GRCm39)	L155P	probably damaging	Het
Rrp1b	A	T	17: 32,278,302 (GRCm39)	M658L	possibly damaging	Het
Sema4b	C	A	7: 79,870,627 (GRCm39)	A525D	probably damaging	Het
Slc13a5	T	A	11: 72,143,147 (GRCm39)	I369F	probably benign	Het
Slc22a18	T	C	7: 143,051,152 (GRCm39)	S344P	probably benign	Het
Slc25a4	A	C	8: 46,662,212 (GRCm39)	S149A	probably benign	Het
Smc2	A	T	4: 52,460,266 (GRCm39)	E547D	probably benign	Het
Stx8	A	G	11: 67,864,077 (GRCm39)	T46A	probably benign	Het
Tacr3	T	C	3: 134,560,631 (GRCm39)	V190A	probably benign	Het
Tdrkh	A	T	3: 94,336,467 (GRCm39)	K468M	possibly damaging	Het
Tmem145	T	C	7: 25,005,598 (GRCm39)	S4P	probably benign	Het
Tmem74	A	G	15: 43,730,506 (GRCm39)	I179T	probably damaging	Het
Vmn1r222	A	C	13: 23,416,683 (GRCm39)	W177G	probably benign	Het
Zfp426	T	C	9: 20,381,401 (GRCm39)	I529V	probably benign	Het
Zfp462	A	G	4: 55,008,313 (GRCm39)	Y93C	probably null	Het
Zfyve26	G	A	12: 79,330,890 (GRCm39)	T443I	probably damaging	Het
Zkscan16	A	C	4: 58,951,869 (GRCm39)	R181S	possibly damaging	Het

Other mutations in Kremen1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01813:Kremen1	APN	11	5,149,667 (GRCm39)	missense	probably benign	0.00
R0038:Kremen1	UTSW	11	5,157,703 (GRCm39)	splice site	probably benign
R0511:Kremen1	UTSW	11	5,165,447 (GRCm39)	missense	probably damaging	1.00
R1557:Kremen1	UTSW	11	5,165,373 (GRCm39)	splice site	probably null
R1579:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R1729:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R1784:Kremen1	UTSW	11	5,151,792 (GRCm39)	unclassified	probably benign
R1800:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R2079:Kremen1	UTSW	11	5,151,794 (GRCm39)	frame shift	probably null
R2100:Kremen1	UTSW	11	5,151,788 (GRCm39)	unclassified	probably benign
R2286:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R2298:Kremen1	UTSW	11	5,151,788 (GRCm39)	unclassified	probably benign
R2512:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R2761:Kremen1	UTSW	11	5,151,792 (GRCm39)	unclassified	probably benign
R2846:Kremen1	UTSW	11	5,151,793 (GRCm39)	unclassified	probably benign
R2882:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R2944:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R2980:Kremen1	UTSW	11	5,151,794 (GRCm39)	unclassified	probably benign
R3151:Kremen1	UTSW	11	5,145,012 (GRCm39)	missense	probably damaging	0.99
R3610:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R3831:Kremen1	UTSW	11	5,151,794 (GRCm39)	unclassified	probably benign
R3957:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R4231:Kremen1	UTSW	11	5,193,881 (GRCm39)	nonsense	probably null
R4397:Kremen1	UTSW	11	5,149,610 (GRCm39)	missense	probably benign	0.36
R5627:Kremen1	UTSW	11	5,149,709 (GRCm39)	missense	probably benign	0.01
R6818:Kremen1	UTSW	11	5,145,051 (GRCm39)	missense	probably benign	0.02
R7584:Kremen1	UTSW	11	5,144,964 (GRCm39)	missense	possibly damaging	0.95
R8803:Kremen1	UTSW	11	5,144,981 (GRCm39)	missense	probably benign	0.01
T0975:Kremen1	UTSW	11	5,145,105 (GRCm39)	missense	probably benign	0.02
Y4339:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTGTAGCTGAGTCAGGAGG -3'
(R):5'- TGGGAACTACTCAGCCATGG -3'

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

Posted On

2014-10-30