Mutagenetix > Incidental Mutation

Incidental Mutation 'R7227:Kremen2'

562253

Institutional Source

Beutler Lab

Gene Symbol

Kremen2

Ensembl Gene

ENSMUSG00000040680

Gene Name

kringle containing transmembrane protein 2

Synonyms

Krm2, 2900054E04Rik

MMRRC Submission

045299-MU

Accession Numbers

Essential gene?

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

Stock #

R7227 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23960171-23964807 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 23963573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 70 (Y70*)

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 null
Transcript: ENSMUST00000046525
AA Change: Y70*

SMART Domains

Protein: ENSMUSP00000046369
Gene: ENSMUSG00000040680
AA Change: Y70*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

97% (57/59)

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
2310057M21Rik	A	T	7: 130,952,449 (GRCm39)	L344H	probably damaging	Het
Abcb1b	T	A	5: 8,875,593 (GRCm39)	S589T	probably damaging	Het
Acsm2	A	C	7: 119,190,556 (GRCm39)	I520L	probably benign	Het
Ap2a2	T	C	7: 141,200,784 (GRCm39)	Y544H	probably damaging	Het
Ascc1	T	A	10: 59,843,560 (GRCm39)	Y41N	probably benign	Het
Bend3	T	A	10: 43,387,401 (GRCm39)	L598Q	probably damaging	Het
Cfap74	T	G	4: 155,545,405 (GRCm39)	Y1108*	probably null	Het
Cxcl17	C	A	7: 25,102,319 (GRCm39)	R41S	probably damaging	Het
Cyp2c69	C	A	19: 39,869,610 (GRCm39)	M136I	possibly damaging	Het
Dnah2	A	G	11: 69,312,222 (GRCm39)	Y4370H	probably damaging	Het
Dzip3	T	A	16: 48,771,932 (GRCm39)	Q579L	probably damaging	Het
Enpp3	C	T	10: 24,693,742 (GRCm39)	M195I	unknown	Het
Esyt2	A	G	12: 116,305,745 (GRCm39)	D325G	probably damaging	Het
Fat1	T	G	8: 45,463,646 (GRCm39)	I1396S	probably benign	Het
Gigyf1	T	A	5: 137,522,085 (GRCm39)	I661K	unknown	Het
Gja1	T	A	10: 56,263,752 (GRCm39)	L37Q	probably damaging	Het
Hivep1	T	C	13: 42,310,387 (GRCm39)	S876P	probably benign	Het
Hk3	C	T	13: 55,160,053 (GRCm39)	R362H	probably benign	Het
Ier3ip1	T	A	18: 77,027,330 (GRCm39)	M53K	probably benign	Het
Klhl5	T	C	5: 65,298,631 (GRCm39)	S137P	probably benign	Het
Lag3	C	T	6: 124,885,457 (GRCm39)	G308S	possibly damaging	Het
Mab21l4	G	T	1: 93,079,736 (GRCm39)	N451K	probably benign	Het
Map4k2	T	A	19: 6,396,624 (GRCm39)	L542Q	probably damaging	Het
Mef2d	G	A	3: 88,065,514 (GRCm39)		probably null	Het
Mkrn3	C	A	7: 62,069,415 (GRCm39)	R125S	probably benign	Het
Mpp3	T	A	11: 101,895,904 (GRCm39)	Y457F	possibly damaging	Het
Mrpl12	T	A	11: 120,379,178 (GRCm39)	I175N	probably damaging	Het
Mybbp1a	G	T	11: 72,338,585 (GRCm39)	K728N	possibly damaging	Het
Nfkb1	C	T	3: 135,332,420 (GRCm39)	V112M	probably damaging	Het
Nucb2	A	T	7: 116,125,311 (GRCm39)	D123V	probably damaging	Het
Or12j2	A	G	7: 139,915,534 (GRCm39)		probably benign	Het
Orc3	T	C	4: 34,572,542 (GRCm39)	T629A	probably benign	Het
Pdk1	T	A	2: 71,714,245 (GRCm39)	N218K	possibly damaging	Het
Plce1	A	G	19: 38,715,346 (GRCm39)	T1298A	probably benign	Het
Ppan	T	A	9: 20,799,496 (GRCm39)		probably benign	Het
Rap1gds1	C	T	3: 138,663,228 (GRCm39)	G373R	probably damaging	Het
Scn2a	A	C	2: 65,582,367 (GRCm39)	I1572L	probably damaging	Het
Sec16a	A	T	2: 26,328,935 (GRCm39)	Y1027N	probably benign	Het
Serpinb3a	T	A	1: 106,979,359 (GRCm39)	T48S	probably damaging	Het
Slc30a8	A	G	15: 52,195,032 (GRCm39)	M264V	probably benign	Het
Slc44a3	A	T	3: 121,303,879 (GRCm39)	C286S	possibly damaging	Het
Slc8a2	T	C	7: 15,878,906 (GRCm39)	I464T	possibly damaging	Het
Smco1	T	C	16: 32,092,833 (GRCm39)	M168T	possibly damaging	Het
Spns2	A	T	11: 72,349,513 (GRCm39)	Y246*	probably null	Het
Ssbp2	T	C	13: 91,823,244 (GRCm39)	M213T	probably benign	Het
Stk40	G	T	4: 126,017,559 (GRCm39)	A29S	probably benign	Het
Thrap3	A	T	4: 126,067,296 (GRCm39)	F683I	probably damaging	Het
Tmc5	A	G	7: 118,269,889 (GRCm39)	T880A	possibly damaging	Het
Trim38	T	A	13: 23,969,946 (GRCm39)	N168K	possibly damaging	Het
Ube2d1	T	A	10: 71,091,702 (GRCm39)	Y134F	possibly damaging	Het
Vmn1r67	T	A	7: 10,181,475 (GRCm39)	Y246*	probably null	Het
Vmn2r18	T	C	5: 151,496,264 (GRCm39)	T485A	probably damaging	Het
Wrn	T	A	8: 33,738,974 (GRCm39)	I1285F	probably damaging	Het
Xrcc1	C	A	7: 24,246,757 (GRCm39)	H8Q	probably damaging	Het
Zkscan4	T	C	13: 21,668,413 (GRCm39)	V317A	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
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
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'- CACCTTAAATCTTTCTGAGGGTACTG -3'
(R):5'- AGCAGTTGAGCAACCCGAAG -3'

Sequencing Primer
(F):5'- TACTGTACCAGGCCAGAGCAG -3'
(R):5'- AGTACTGGCTGGGACCAG -3'

Posted On

2019-06-26