Mutagenetix > Incidental Mutation

Incidental Mutation 'R0057:Kremen2'

16310

Institutional Source

Beutler Lab

Gene Symbol

Kremen2

Ensembl Gene

ENSMUSG00000040680

Gene Name

kringle containing transmembrane protein 2

Synonyms

Krm2, 2900054E04Rik

MMRRC Submission

038351-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R0057 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

23960171-23964807 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 23962202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 210 (I210S)

Ref Sequence

ENSEMBL: ENSMUSP00000046369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024702] [ENSMUST00000046525]

AlphaFold

Q8K1S7

Predicted Effect

probably benign
Transcript: ENSMUST00000024702

SMART Domains

Protein: ENSMUSP00000024702
Gene: ENSMUSG00000023909

Domain	Start	End	E-Value	Type
Pfam:HlyIII	43	254	1e-26	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046525
AA Change: I210S

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046369
Gene: ENSMUSG00000040680
AA Change: I210S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
KR	33	120	2.44e-18	SMART
Pfam:WSC	123	204	1.3e-20	PFAM
CUB	218	325	8.04e-15	SMART
Blast:CUB	351	422	8e-6	BLAST
low complexity region	446	461	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181291

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 90.1%
3x: 87.8%
10x: 82.7%
20x: 75.7%

Validation Efficiency

89% (65/73)

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. A similar protein in mouse functions interacts with with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein forms a ternary membrane complex with DKK1 and the WNT receptor lipoprotein receptor-related protein 6 (LRP6), and induces rapid endocytosis and removal of LRP6 from the plasma membrane. It contains extracellular kringle, WSC, and CUB domains. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,832,385 (GRCm39)	F1309L	possibly damaging	Het
Abcc6	C	T	7: 45,669,567 (GRCm39)	A163T	probably benign	Het
Adam23	T	A	1: 63,610,078 (GRCm39)	H693Q	probably damaging	Het
Afg3l2	A	G	18: 67,556,156 (GRCm39)	F392L	probably damaging	Het
Ak9	A	T	10: 41,268,724 (GRCm39)	T1055S	probably benign	Het
Ap5z1	T	C	5: 142,456,144 (GRCm39)		probably benign	Het
Arhgef10l	A	G	4: 140,338,529 (GRCm39)		probably benign	Het
Bloc1s6	T	A	2: 122,586,141 (GRCm39)		probably benign	Het
Caskin1	A	G	17: 24,723,870 (GRCm39)	N886S	probably damaging	Het
Celsr1	A	C	15: 85,914,963 (GRCm39)	S1003R	probably benign	Het
Ctse	G	T	1: 131,591,109 (GRCm39)	D97Y	probably damaging	Het
Cux1	T	A	5: 136,285,136 (GRCm39)	I505F	probably damaging	Het
Dcaf11	T	C	14: 55,806,767 (GRCm39)	V490A	probably benign	Het
Dscam	A	C	16: 96,474,936 (GRCm39)	W1209G	probably damaging	Het
Emc8	A	G	8: 121,385,822 (GRCm39)		probably benign	Het
Entpd6	A	G	2: 150,600,748 (GRCm39)	K152R	probably null	Het
Eps8l2	C	T	7: 140,922,884 (GRCm39)	T49I	probably benign	Het
Fcsk	C	T	8: 111,620,400 (GRCm39)		probably benign	Het
Gm12251	C	A	11: 58,283,867 (GRCm39)		probably benign	Het
Gna11	A	G	10: 81,366,774 (GRCm39)	M312T	probably benign	Het
Hacd2	T	A	16: 34,895,997 (GRCm39)	V105D	probably damaging	Het
Il17a	T	A	1: 20,803,881 (GRCm39)	I92N	probably damaging	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Irak4	A	C	15: 94,451,753 (GRCm39)	R115S	probably benign	Het
Jarid2	C	T	13: 45,038,332 (GRCm39)	H77Y	probably damaging	Het
Kcnk6	A	T	7: 28,925,088 (GRCm39)	L176Q	probably damaging	Het
Kmt2b	A	T	7: 30,276,217 (GRCm39)		probably benign	Het
Ldah	T	C	12: 8,288,432 (GRCm39)		probably benign	Het
Lgals9	A	T	11: 78,862,262 (GRCm39)		probably benign	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mfsd4b4	T	A	10: 39,891,097 (GRCm38)		probably benign	Het
Msh4	C	T	3: 153,575,318 (GRCm39)	A686T	probably benign	Het
Mycbp2	T	C	14: 103,389,578 (GRCm39)	N3411D	probably damaging	Het
Myt1l	A	G	12: 29,892,611 (GRCm39)		probably null	Het
Nmbr	A	G	10: 14,636,268 (GRCm39)	N79S	probably damaging	Het
Npsr1	A	T	9: 24,211,723 (GRCm39)	I84F	probably damaging	Het
Or52h1	G	T	7: 103,829,536 (GRCm39)	H26Q	probably benign	Het
Or5m10b	C	A	2: 85,699,597 (GRCm39)	Y220*	probably null	Het
Or6z5	T	C	7: 6,477,679 (GRCm39)	L190P	probably damaging	Het
Prlr	A	G	15: 10,328,509 (GRCm39)	Y328C	probably damaging	Het
Rasal3	A	G	17: 32,610,357 (GRCm39)	S977P	probably benign	Het
Ros1	C	T	10: 52,056,287 (GRCm39)	V68I	probably benign	Het
Shmt2	G	A	10: 127,356,917 (GRCm39)	T31M	possibly damaging	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Snrnp200	C	G	2: 127,079,827 (GRCm39)	L1899V	probably damaging	Het
Snrnp48	T	A	13: 38,400,356 (GRCm39)	C154*	probably null	Het
Tdrd6	G	A	17: 43,928,052 (GRCm39)		probably benign	Het
Tmem175	C	T	5: 108,787,428 (GRCm39)	H92Y	probably damaging	Het
Tom1l1	G	A	11: 90,575,975 (GRCm39)		probably benign	Het
Top3a	C	T	11: 60,631,510 (GRCm39)	A951T	probably benign	Het
Tram2	C	T	1: 21,076,378 (GRCm39)	R184Q	probably damaging	Het
Trpc4ap	T	C	2: 155,482,406 (GRCm39)	E528G	possibly damaging	Het
Vwa7	G	A	17: 35,243,523 (GRCm39)	S710N	possibly damaging	Het
Zfa-ps	A	T	10: 52,421,202 (GRCm39)		noncoding transcript	Het
Zfp770	T	A	2: 114,027,713 (GRCm39)	R119*	probably null	Het

Other mutations in Kremen2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02327:Kremen2	APN	17	23,962,543 (GRCm39)	missense	probably benign	0.11
R0369:Kremen2	UTSW	17	23,961,784 (GRCm39)	missense	probably benign	0.02
R0835:Kremen2	UTSW	17	23,961,811 (GRCm39)	missense	probably damaging	0.99
R0847:Kremen2	UTSW	17	23,963,634 (GRCm39)	missense	probably damaging	1.00
R1733:Kremen2	UTSW	17	23,962,373 (GRCm39)	splice site	probably null
R2056:Kremen2	UTSW	17	23,961,691 (GRCm39)	missense	possibly damaging	0.94
R2057:Kremen2	UTSW	17	23,961,691 (GRCm39)	missense	possibly damaging	0.94
R2058:Kremen2	UTSW	17	23,961,691 (GRCm39)	missense	possibly damaging	0.94
R2173:Kremen2	UTSW	17	23,961,770 (GRCm39)	missense	probably damaging	0.98
R5553:Kremen2	UTSW	17	23,960,776 (GRCm39)	unclassified	probably benign
R5583:Kremen2	UTSW	17	23,961,229 (GRCm39)	missense	probably benign	0.00
R6057:Kremen2	UTSW	17	23,961,679 (GRCm39)	missense	probably benign	0.00
R6510:Kremen2	UTSW	17	23,962,629 (GRCm39)	missense	possibly damaging	0.91
R7068:Kremen2	UTSW	17	23,960,859 (GRCm39)	missense	possibly damaging	0.87
R7227:Kremen2	UTSW	17	23,963,573 (GRCm39)	nonsense	probably null
R7382:Kremen2	UTSW	17	23,962,526 (GRCm39)	splice site	probably null
R8113:Kremen2	UTSW	17	23,962,776 (GRCm39)	missense	probably damaging	1.00
R8167:Kremen2	UTSW	17	23,962,314 (GRCm39)	missense	probably damaging	1.00
R8328:Kremen2	UTSW	17	23,961,745 (GRCm39)	missense	probably benign
R8544:Kremen2	UTSW	17	23,961,201 (GRCm39)	missense	probably benign	0.00
R8726:Kremen2	UTSW	17	23,961,720 (GRCm39)	missense	probably damaging	1.00
R9017:Kremen2	UTSW	17	23,964,737 (GRCm39)	start gained	probably benign
R9064:Kremen2	UTSW	17	23,961,736 (GRCm39)	missense	possibly damaging	0.76
R9216:Kremen2	UTSW	17	23,962,781 (GRCm39)	missense	probably damaging	1.00
R9333:Kremen2	UTSW	17	23,962,775 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-01-20