Mutagenetix > Incidental Mutation

Incidental Mutation 'R5583:Kremen2'

438593

Institutional Source

Beutler Lab

Gene Symbol

Kremen2

Ensembl Gene

ENSMUSG00000040680

Gene Name

kringle containing transmembrane protein 2

Synonyms

Krm2, 2900054E04Rik

MMRRC Submission

043137-MU

Accession Numbers

Essential gene?

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

Stock #

R5583 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23960171-23964807 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23961229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 373 (T373A)

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: T373A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000046369
Gene: ENSMUSG00000040680
AA Change: T373A

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

0.0730

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.4%

Validation Efficiency

97% (60/62)

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
A1bg	A	T	15: 60,793,083 (GRCm39)	L8Q	probably damaging	Het
Abca4	T	C	3: 121,942,550 (GRCm39)	V1681A	probably damaging	Het
Abce1	G	T	8: 80,416,922 (GRCm39)	A363E	probably benign	Het
Adgrl2	T	C	3: 148,564,800 (GRCm39)	Y256C	probably damaging	Het
Afm	T	C	5: 90,695,740 (GRCm39)	C416R	probably damaging	Het
Ahnak	T	A	19: 8,984,281 (GRCm39)	V1855D	probably damaging	Het
Alb	A	T	5: 90,616,452 (GRCm39)	H319L	probably benign	Het
Ankrd35	G	T	3: 96,592,219 (GRCm39)	R835L	probably damaging	Het
Atg2b	T	C	12: 105,615,414 (GRCm39)	D1014G	possibly damaging	Het
Cdk6	T	A	5: 3,394,436 (GRCm39)	Y24N	probably damaging	Het
Chd7	T	A	4: 8,752,473 (GRCm39)	N323K	probably damaging	Het
Cops9	A	T	1: 92,567,489 (GRCm39)		probably benign	Het
Crybg1	T	C	10: 43,879,506 (GRCm39)	T561A	probably benign	Het
Dcdc5	T	C	2: 106,195,778 (GRCm39)		noncoding transcript	Het
Dnah7b	G	T	1: 46,281,359 (GRCm39)	A2807S	probably benign	Het
Fam149b	A	G	14: 20,413,368 (GRCm39)	T196A	possibly damaging	Het
Fam217a	C	A	13: 35,094,280 (GRCm39)	C402F	probably damaging	Het
Fat2	A	T	11: 55,144,715 (GRCm39)	V4053E	probably benign	Het
Fcgbp	T	C	7: 27,791,004 (GRCm39)	V755A	probably damaging	Het
Fxr1	C	A	3: 34,123,125 (GRCm39)	S641R	probably benign	Het
Gata5	A	T	2: 179,976,047 (GRCm39)	M39K	probably benign	Het
Gon4l	T	A	3: 88,807,278 (GRCm39)	D1658E	probably damaging	Het
Gpr180	C	T	14: 118,400,110 (GRCm39)	T426M	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Helq	T	C	5: 100,910,459 (GRCm39)	E1039G	probably damaging	Het
Hibch	T	A	1: 52,940,406 (GRCm39)	Y192N	probably damaging	Het
Hp1bp3	A	G	4: 137,949,426 (GRCm39)	I41M	probably damaging	Het
Itpripl2	G	T	7: 118,089,101 (GRCm39)	P486Q	probably benign	Het
Kcnj6	T	C	16: 94,634,060 (GRCm39)	D17G	probably benign	Het
Kprp	T	A	3: 92,731,643 (GRCm39)	Y469F	unknown	Het
Lgi4	A	G	7: 30,760,562 (GRCm39)	Y39C	possibly damaging	Het
Lgr5	T	C	10: 115,314,409 (GRCm39)	D176G	probably benign	Het
Lrp1	T	C	10: 127,424,332 (GRCm39)	S785G	probably benign	Het
Ltbp1	A	T	17: 75,598,325 (GRCm39)	Q920L	probably benign	Het
Map2	A	G	1: 66,455,196 (GRCm39)	E1362G	probably damaging	Het
Nkx2-6	T	C	14: 69,409,272 (GRCm39)	S8P	probably damaging	Het
Or2h1b	T	C	17: 37,462,485 (GRCm39)	Q126R	probably benign	Het
Pde4dip	C	T	3: 97,654,892 (GRCm39)	R888Q	possibly damaging	Het
Per1	A	G	11: 68,994,271 (GRCm39)	H494R	probably damaging	Het
Pira2	A	G	7: 3,845,545 (GRCm39)	F280L	probably benign	Het
Plekhm3	C	T	1: 64,977,145 (GRCm39)	W108*	probably null	Het
Ptcd3	A	G	6: 71,879,920 (GRCm39)	S113P	probably damaging	Het
Scarf1	T	C	11: 75,404,842 (GRCm39)	L42P	possibly damaging	Het
Scart2	G	A	7: 139,876,739 (GRCm39)	C710Y	probably damaging	Het
Skint1	A	C	4: 111,876,253 (GRCm39)	Q58P	probably damaging	Het
Spata7	A	T	12: 98,635,590 (GRCm39)	N438I	probably damaging	Het
Spdya	C	A	17: 71,876,126 (GRCm39)	D164E	probably damaging	Het
Speer3	G	A	5: 13,844,782 (GRCm39)		probably null	Het
Ssc4d	A	T	5: 135,999,050 (GRCm39)	L51H	probably damaging	Het
Steap1	A	G	5: 5,790,579 (GRCm39)	I123T	possibly damaging	Het
Styx	T	A	14: 45,608,483 (GRCm39)	F147I	possibly damaging	Het
Suv39h2	T	A	2: 3,475,890 (GRCm39)		probably benign	Het
Tfb2m	A	G	1: 179,373,446 (GRCm39)	V84A	probably benign	Het
Tlcd1	T	G	11: 78,069,762 (GRCm39)	V25G	probably benign	Het
Tmem79	T	C	3: 88,239,870 (GRCm39)	Y280C	probably damaging	Het
Trim5	T	A	7: 103,926,042 (GRCm39)	N173I	probably damaging	Het
Ttc17	A	T	2: 94,208,027 (GRCm39)	D194E	probably damaging	Het
Zfp2	T	C	11: 50,790,984 (GRCm39)	E353G	possibly 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
R2173:Kremen2	UTSW	17	23,961,770 (GRCm39)	missense	probably damaging	0.98
R5553:Kremen2	UTSW	17	23,960,776 (GRCm39)	unclassified	probably benign
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'- TGCCTGCAAACCAATTCTCC -3'
(R):5'- CAGAGGATTCAACTGAGAGTCTCG -3'

Sequencing Primer
(F):5'- AGAACCCAGGGCCTTCCTAG -3'
(R):5'- TGAGAGTCTCGCAGGGGAC -3'

Posted On

2016-10-26