Mutagenetix > Incidental Mutation

Incidental Mutation 'R9017:Kremen2'

686100

Institutional Source

Beutler Lab

Gene Symbol

Kremen2

Ensembl Gene

ENSMUSG00000040680

Gene Name

kringle containing transmembrane protein 2

Synonyms

Krm2, 2900054E04Rik

MMRRC Submission

068847-MU

Accession Numbers

Essential gene?

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

Stock #

R9017 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23960171-23964807 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

T to A at 23964737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000046369 (fasta)

Gene Model

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

AlphaFold

Q8K1S7

Predicted Effect

probably benign
Transcript: ENSMUST00000046525

SMART Domains

Protein: ENSMUSP00000046369
Gene: ENSMUSG00000040680

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	T	C	16: 56,553,211 (GRCm39)	T629A	probably benign	Het
Afg3l2	A	G	18: 67,542,550 (GRCm39)	V632A	possibly damaging	Het
Ahnak	G	A	19: 8,987,487 (GRCm39)	E2924K	probably damaging	Het
Ampd1	A	G	3: 102,995,786 (GRCm39)	Y232C	probably benign	Het
Ank1	G	A	8: 23,606,264 (GRCm39)	G1219S	probably null	Het
Atp8b4	A	T	2: 126,275,841 (GRCm39)	N130K	probably benign	Het
Cdh15	T	C	8: 123,584,256 (GRCm39)		probably null	Het
Cep70	T	C	9: 99,181,829 (GRCm39)	I613T	possibly damaging	Het
Cfap54	C	T	10: 92,651,883 (GRCm39)	V3056I	probably benign	Het
Chrna2	T	C	14: 66,386,282 (GRCm39)	F143L	probably benign	Het
Cmya5	C	T	13: 93,228,572 (GRCm39)	R2172H	probably benign	Het
Col17a1	T	C	19: 47,657,898 (GRCm39)	E424G	probably benign	Het
Crybg1	T	C	10: 43,880,477 (GRCm39)	E237G	probably benign	Het
Ctnnd2	G	A	15: 30,881,316 (GRCm39)	C732Y	probably damaging	Het
Dcaf12	T	C	4: 41,299,411 (GRCm39)	N264S	probably benign	Het
Dennd4c	A	G	4: 86,743,349 (GRCm39)	S1064G	probably benign	Het
Dsc2	A	T	18: 20,176,968 (GRCm39)	Y360N	probably damaging	Het
E2f3	T	G	13: 30,097,478 (GRCm39)	D295A	probably damaging	Het
Eef2	T	C	10: 81,015,487 (GRCm39)	L336P	possibly damaging	Het
Fanca	A	G	8: 124,035,307 (GRCm39)	S213P	possibly damaging	Het
Fpgt	A	T	3: 154,792,903 (GRCm39)	S375T	probably benign	Het
Gad1	G	A	2: 70,416,206 (GRCm39)	V222I	probably benign	Het
Gm5930	A	T	14: 44,568,858 (GRCm39)	Y255N	possibly damaging	Het
Gpr55	T	C	1: 85,868,624 (GRCm39)	N319S	probably benign	Het
Grik2	T	A	10: 48,989,555 (GRCm39)	I825F	possibly damaging	Het
Hcn4	T	C	9: 58,731,482 (GRCm39)	S230P	unknown	Het
Kansl3	T	C	1: 36,393,861 (GRCm39)	I222V	probably benign	Het
Kif20b	T	C	19: 34,927,203 (GRCm39)	S822P	probably benign	Het
Krt71	G	T	15: 101,651,100 (GRCm39)	R128S	possibly damaging	Het
Lrp4	A	T	2: 91,324,397 (GRCm39)	N1244I	possibly damaging	Het
Lrrc66	T	C	5: 73,765,244 (GRCm39)	S600G	possibly damaging	Het
Mrc2	T	A	11: 105,216,711 (GRCm39)	C167S	probably damaging	Het
Mrps17	T	C	5: 129,793,857 (GRCm39)	V17A	probably damaging	Het
Muc20	A	T	16: 32,614,840 (GRCm39)	L179Q	unknown	Het
Or13g1	A	T	7: 85,955,957 (GRCm39)	Y121*	probably null	Het
Or13p8	T	A	4: 118,583,565 (GRCm39)	F40L	probably benign	Het
Or4c29	G	T	2: 88,739,951 (GRCm39)	T262K	probably damaging	Het
Otop2	T	C	11: 115,214,431 (GRCm39)	F63L	probably benign	Het
Pde3b	C	T	7: 114,015,695 (GRCm39)	Q304*	probably null	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Plekhg4	A	G	8: 106,105,332 (GRCm39)	E599G	possibly damaging	Het
Ppargc1a	C	A	5: 51,630,251 (GRCm39)	R622L	unknown	Het
Ppip5k2	A	G	1: 97,655,139 (GRCm39)	L879P	probably damaging	Het
Prepl	C	T	17: 85,376,366 (GRCm39)	V563M	possibly damaging	Het
Prom1	G	T	5: 44,204,870 (GRCm39)	D201E	probably damaging	Het
Psmd1	T	A	1: 86,054,231 (GRCm39)	D723E	probably damaging	Het
Sall2	A	T	14: 52,550,719 (GRCm39)	N825K	possibly damaging	Het
Sds	A	T	5: 120,618,655 (GRCm39)	M70L	probably benign	Het
Sema4c	C	T	1: 36,592,079 (GRCm39)	R256H	probably damaging	Het
Sik1	T	C	17: 32,070,545 (GRCm39)	Y100C	probably damaging	Het
Slc13a5	T	A	11: 72,138,588 (GRCm39)	I452F	probably damaging	Het
Slc25a24	A	G	3: 109,062,395 (GRCm39)	I162V	possibly damaging	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Tenm3	T	A	8: 48,707,668 (GRCm39)	N1710I	probably damaging	Het
Tmem115	T	A	9: 107,411,880 (GRCm39)	M68K	probably benign	Het
Tmem132d	T	C	5: 127,866,936 (GRCm39)	I655V	probably benign	Het
Tmem132d	T	C	5: 128,346,316 (GRCm39)	I69V	probably benign	Het
Tnfrsf11a	G	A	1: 105,754,854 (GRCm39)	A309T	possibly damaging	Het
Trim9	A	G	12: 70,314,013 (GRCm39)	M544T	probably benign	Het
Ttll3	G	A	6: 113,389,850 (GRCm39)	R745H	probably benign	Het
Ttn	G	T	2: 76,737,931 (GRCm39)	L4249I	unknown	Het
Unc79	G	A	12: 103,074,874 (GRCm39)		probably null	Het
Vmn1r196	T	C	13: 22,478,254 (GRCm39)	C298R	probably benign	Het
Vmn1r216	A	G	13: 23,284,081 (GRCm39)	I255V	probably benign	Het
Zfp853	A	G	5: 143,274,243 (GRCm39)	L474P	unknown	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
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
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'- GGGACACATACCAGGTTAACAG -3'
(R):5'- GAATTCCGCCAAGGCAAGG -3'

Sequencing Primer
(F):5'- GCACCCAGATTTAAGTGC -3'
(R):5'- CAAGGCAAGGCTCCGGAG -3'

Posted On

2021-10-11