Mutagenetix > Incidental Mutation

Incidental Mutation 'R0369:Kremen2'

30402

Institutional Source

Beutler Lab

Gene Symbol

Kremen2

Ensembl Gene

ENSMUSG00000040680

Gene Name

kringle containing transmembrane protein 2

Synonyms

Krm2, 2900054E04Rik

MMRRC Submission

038575-MU

Accession Numbers

Essential gene?

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

Stock #

R0369 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23960171-23964807 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23961784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 241 (D241G)

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 benign
Transcript: ENSMUST00000046525
AA Change: D241G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000046369
Gene: ENSMUSG00000040680
AA Change: D241G

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

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 94.8%
20x: 87.0%

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. 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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921528I07Rik	G	A	9: 114,129,077 (GRCm39)		noncoding transcript	Het
Aadacl2	T	A	3: 59,932,143 (GRCm39)	Y219*	probably null	Het
Adamts13	C	A	2: 26,895,198 (GRCm39)	D1096E	probably benign	Het
Adamts16	T	G	13: 70,927,671 (GRCm39)	K523Q	possibly damaging	Het
Adcy2	A	G	13: 68,820,019 (GRCm39)	F740S	probably benign	Het
Carmil1	T	A	13: 24,266,003 (GRCm39)	N253I	probably damaging	Het
Ccdc97	T	C	7: 25,413,833 (GRCm39)	T283A	probably damaging	Het
Cmpk2	G	T	12: 26,527,150 (GRCm39)	E380*	probably null	Het
Csmd3	A	G	15: 47,833,543 (GRCm39)	I911T	probably damaging	Het
Cyp2c39	T	C	19: 39,502,079 (GRCm39)	L156P	probably damaging	Het
D7Ertd443e	T	C	7: 133,899,866 (GRCm39)	I499V	possibly damaging	Het
Dhx58	A	C	11: 100,592,374 (GRCm39)		probably null	Het
Dip2a	C	T	10: 76,134,621 (GRCm39)	G390S	probably damaging	Het
Dusp10	A	G	1: 183,801,253 (GRCm39)	D340G	probably damaging	Het
Epha1	A	T	6: 42,342,407 (GRCm39)	C314S	probably damaging	Het
Exph5	A	T	9: 53,284,602 (GRCm39)	H561L	probably benign	Het
Fbxw26	A	G	9: 109,552,780 (GRCm39)		probably null	Het
Foxc1	A	C	13: 31,991,495 (GRCm39)	N102T	probably damaging	Het
Fsip2	T	C	2: 82,814,908 (GRCm39)	I3547T	probably benign	Het
Gm5464	G	T	14: 67,106,774 (GRCm39)		probably benign	Het
Gnptab	C	T	10: 88,269,456 (GRCm39)	R720C	possibly damaging	Het
Greb1l	T	C	18: 10,469,375 (GRCm39)	V130A	possibly damaging	Het
Hmg20a	A	T	9: 56,394,934 (GRCm39)	D216V	probably damaging	Het
Hnrnpul2	C	A	19: 8,801,777 (GRCm39)	D328E	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ift172	T	C	5: 31,410,985 (GRCm39)	Y1691C	probably damaging	Het
Meis2	T	C	2: 115,893,897 (GRCm39)	D5G	possibly damaging	Het
Mrps5	G	A	2: 127,433,749 (GRCm39)	R46K	probably benign	Het
Myh14	C	T	7: 44,310,374 (GRCm39)	V170M	probably damaging	Het
Nexn	T	C	3: 151,953,894 (GRCm39)	N123D	probably benign	Het
Or11g26	T	A	14: 50,753,282 (GRCm39)	M207K	probably benign	Het
Or4d11	A	T	19: 12,013,765 (GRCm39)	S114T	probably benign	Het
Or51l14	T	A	7: 103,101,423 (GRCm39)	I293N	probably damaging	Het
Pacs1	C	T	19: 5,191,726 (GRCm39)	V704M	probably damaging	Het
Papolg	A	G	11: 23,822,425 (GRCm39)		probably null	Het
Pdlim3	T	C	8: 46,370,543 (GRCm39)	V281A	probably benign	Het
Plpp4	T	G	7: 128,925,190 (GRCm39)	F142V	probably damaging	Het
Prb1a	G	A	6: 132,184,620 (GRCm39)	Q338*	probably null	Het
Psg26	G	T	7: 18,216,481 (GRCm39)	Y119*	probably null	Het
Ptger4	A	G	15: 5,272,491 (GRCm39)	C68R	probably benign	Het
Ptpre	T	A	7: 135,272,444 (GRCm39)	I399N	probably damaging	Het
Ripply2	A	G	9: 86,898,372 (GRCm39)	Y72C	probably damaging	Het
Rp1l1	T	A	14: 64,266,837 (GRCm39)	S808T	possibly damaging	Het
Scn5a	G	A	9: 119,362,838 (GRCm39)	T594I	probably damaging	Het
Sf3b1	T	C	1: 55,037,267 (GRCm39)	D883G	probably benign	Het
Skint5	A	T	4: 113,369,220 (GRCm39)		probably null	Het
Terf1	A	G	1: 15,889,207 (GRCm39)	H212R	probably damaging	Het
Tmco5	T	G	2: 116,711,269 (GRCm39)		probably null	Het
Tnfaip3	A	T	10: 18,882,660 (GRCm39)	Y252*	probably null	Het
Tnrc6a	T	A	7: 122,770,083 (GRCm39)	N624K	probably damaging	Het
Top3a	C	A	11: 60,633,615 (GRCm39)	R827L	probably damaging	Het
Unc79	G	A	12: 103,055,031 (GRCm39)		probably null	Het
Usp20	T	C	2: 30,901,116 (GRCm39)	S422P	probably benign	Het
Utrn	T	C	10: 12,509,766 (GRCm39)	E2402G	probably benign	Het
Wdr3	G	A	3: 100,063,734 (GRCm39)	Q181*	probably null	Het
Zfp536	T	C	7: 37,267,373 (GRCm39)	E681G	probably damaging	Het
Zfp91	C	T	19: 12,747,438 (GRCm39)	V562I	possibly damaging	Het
Zfp942	A	T	17: 22,148,017 (GRCm39)	I204N	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AAGCCTTGAGCATGGCCTCTTG -3'
(R):5'- GCTCGAAAAGGGGACTCTTTCCAC -3'

Sequencing Primer
(F):5'- TCGCTGCGGAAGGTGAG -3'
(R):5'- TTCCACCTGCGCTGGAAAG -3'

Posted On

2013-04-24