Mutagenetix > Incidental Mutation

Incidental Mutation 'R2173:Kremen2'

237652

Institutional Source

Beutler Lab

Gene Symbol

Kremen2

Ensembl Gene

ENSMUSG00000040680

Gene Name

kringle containing transmembrane protein 2

Synonyms

Krm2, 2900054E04Rik

MMRRC Submission

040175-MU

Accession Numbers

Essential gene?

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

Stock #

R2173 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23960171-23964807 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 23961770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Glycine at position 246 (W246G)

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

probably damaging
Transcript: ENSMUST00000046525
AA Change: W246G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046369
Gene: ENSMUSG00000040680
AA Change: W246G

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

0.9450

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

97% (66/68)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk1	T	A	3: 127,477,239 (GRCm39)	H273L	probably damaging	Het
Alpk3	A	G	7: 80,726,648 (GRCm39)	Y111C	probably damaging	Het
Anapc2	T	G	2: 25,163,288 (GRCm39)	V175G	probably benign	Het
Arhgap30	T	C	1: 171,235,335 (GRCm39)	S570P	probably damaging	Het
AU040320	T	C	4: 126,686,069 (GRCm39)	L215P	probably benign	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Ccdc65	A	G	15: 98,618,914 (GRCm39)	N298D	probably benign	Het
Cfap70	T	A	14: 20,458,630 (GRCm39)	N727Y	probably benign	Het
Clcn7	A	G	17: 25,364,583 (GRCm39)	H63R	probably benign	Het
Corin	A	T	5: 72,661,422 (GRCm39)	C24S	probably benign	Het
Cyp1a2	A	G	9: 57,584,798 (GRCm39)	W419R	probably damaging	Het
Dlgap4	C	A	2: 156,604,732 (GRCm39)	A256D	probably damaging	Het
Eif4enif1	A	G	11: 3,192,367 (GRCm39)		probably null	Het
Eri2	A	G	7: 119,385,766 (GRCm39)	V245A	possibly damaging	Het
Erich6b	T	C	14: 75,896,332 (GRCm39)	F73L	probably benign	Het
Fam110a	A	G	2: 151,812,429 (GRCm39)	C114R	probably damaging	Het
Fam149a	T	C	8: 45,806,991 (GRCm39)	D288G	probably damaging	Het
Fam171a1	T	A	2: 3,226,656 (GRCm39)	Y596*	probably null	Het
Fsd1	A	G	17: 56,298,223 (GRCm39)	T183A	possibly damaging	Het
Fut10	T	A	8: 31,726,159 (GRCm39)	Y305N	probably damaging	Het
Ganab	A	T	19: 8,879,624 (GRCm39)		probably benign	Het
Gm9922	G	T	14: 101,967,012 (GRCm39)		probably benign	Het
Gp9	A	G	6: 87,756,035 (GRCm39)	T17A	probably benign	Het
Gxylt2	T	C	6: 100,775,115 (GRCm39)	Y345H	probably damaging	Het
Herc2	A	G	7: 55,835,699 (GRCm39)	H3269R	probably benign	Het
Hpx	A	T	7: 105,241,290 (GRCm39)	S374T	probably benign	Het
Hspa5	T	C	2: 34,664,674 (GRCm39)	V376A	probably damaging	Het
Hyi	T	C	4: 118,219,381 (GRCm39)		probably benign	Het
Impdh2	G	A	9: 108,442,593 (GRCm39)		probably null	Het
Krt87	A	G	15: 101,385,818 (GRCm39)	V259A	probably damaging	Het
L3mbtl4	A	T	17: 68,894,188 (GRCm39)	H398L	probably damaging	Het
Lama5	C	A	2: 179,838,035 (GRCm39)	V894L	probably benign	Het
Maml2	A	G	9: 13,532,912 (GRCm39)		probably benign	Het
Nup153	A	T	13: 46,855,076 (GRCm39)		probably benign	Het
Or10g6	T	G	9: 39,934,550 (GRCm39)	I287S	probably damaging	Het
Or2y15	G	T	11: 49,350,967 (GRCm39)	V154L	probably benign	Het
Or5k14	A	G	16: 58,692,982 (GRCm39)	F177S	probably damaging	Het
Or8b3b	T	C	9: 38,584,240 (GRCm39)	I180V	probably benign	Het
Or9r7	G	A	10: 129,962,372 (GRCm39)	P185S	probably benign	Het
Otof	C	T	5: 30,543,718 (GRCm39)	R582H	probably damaging	Het
Otud4	T	C	8: 80,395,093 (GRCm39)	S543P	probably damaging	Het
Pde6a	A	G	18: 61,387,453 (GRCm39)	D448G	probably damaging	Het
Phgdh	A	G	3: 98,222,427 (GRCm39)	V388A	probably benign	Het
Plin3	G	T	17: 56,586,891 (GRCm39)	D385E	possibly damaging	Het
Polg	G	T	7: 79,105,341 (GRCm39)	D734E	probably damaging	Het
Pomt1	T	C	2: 32,140,912 (GRCm39)	Y515H	probably damaging	Het
Prr35	A	C	17: 26,167,461 (GRCm39)	H25Q	probably damaging	Het
Pwwp2a	G	A	11: 43,573,313 (GRCm39)	A132T	probably benign	Het
Rbm6	A	T	9: 107,729,390 (GRCm39)	F419L	possibly damaging	Het
Rfx5	A	G	3: 94,864,027 (GRCm39)		probably null	Het
Rnf135	G	A	11: 80,080,066 (GRCm39)	S119N	probably benign	Het
Scfd1	T	A	12: 51,433,862 (GRCm39)	D51E	probably benign	Het
Smox	A	T	2: 131,353,944 (GRCm39)	E5D	possibly damaging	Het
Srpk2	T	C	5: 23,723,613 (GRCm39)		probably null	Het
Syne2	T	A	12: 76,147,763 (GRCm39)		probably benign	Het
Tcf20	A	G	15: 82,738,893 (GRCm39)	S853P	possibly damaging	Het
Tmem131l	A	G	3: 83,833,452 (GRCm39)	F804L	probably damaging	Het
Ttll8	A	G	15: 88,798,800 (GRCm39)	L645P	probably damaging	Het
Ubr3	T	A	2: 69,727,743 (GRCm39)	H35Q	probably benign	Het
Uck1	GCCAACACC	GCC	2: 32,146,088 (GRCm39)		probably benign	Het
Vmn2r70	A	T	7: 85,214,290 (GRCm39)	H287Q	probably benign	Het
Vps26a	A	T	10: 62,304,171 (GRCm39)	I150N	probably damaging	Het
Zfp605	G	A	5: 110,275,323 (GRCm39)	R147H	probably benign	Het
Zfyve16	A	G	13: 92,631,596 (GRCm39)	M1333T	probably damaging	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
R0057:Kremen2	UTSW	17	23,962,202 (GRCm39)	missense	possibly damaging	0.94
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
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

Predicted Primers

PCR Primer
(F):5'- ATCCTCTGGAGATGCTCTGC -3'
(R):5'- GCTCGAAAAGGGGACTCTTTCC -3'

Sequencing Primer
(F):5'- TGAGCATGGCCTCTTGC -3'
(R):5'- TTTCCACCTGCGCTGGAAAG -3'

Posted On

2014-10-02