Mutagenetix > Incidental Mutation

Incidental Mutation 'R4397:Kremen1'

325546

Institutional Source

Beutler Lab

Gene Symbol

Kremen1

Ensembl Gene

ENSMUSG00000020393

Gene Name

kringle containing transmembrane protein 1

Synonyms

Krm1

MMRRC Submission

041685-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R4397 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5141552-5211558 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5149610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 354 (S354T)

Ref Sequence

ENSEMBL: ENSMUSP00000020662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020662]

AlphaFold

Q99N43

Predicted Effect

probably benign
Transcript: ENSMUST00000020662
AA Change: S354T

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000020662
Gene: ENSMUSG00000020393
AA Change: S354T

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
KR	30	116	9.81e-23	SMART
Pfam:WSC	119	200	3.7e-21	PFAM
CUB	214	321	4.27e-19	SMART
transmembrane domain	391	413	N/A	INTRINSIC

Meta Mutation Damage Score

0.0840

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

96% (55/57)

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 that functionally cooperates with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein is a component of a membrane complex that modulates canonical WNT signaling through lipoprotein receptor-related protein 6 (LRP6). It contains extracellular kringle, WSC, and CUB domains. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]
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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg4	T	G	X: 55,977,703 (GRCm39)	L2193V	probably damaging	Het
Agap2	G	A	10: 126,926,352 (GRCm39)	A866T	unknown	Het
Aig1	A	C	10: 13,528,726 (GRCm39)	S237A	probably benign	Het
Baz1b	C	T	5: 135,273,300 (GRCm39)	R1475W	probably damaging	Het
Bmp1	C	T	14: 70,727,982 (GRCm39)		probably null	Het
Crybg3	A	G	16: 59,380,458 (GRCm39)		probably benign	Het
Dnajc15	T	C	14: 78,112,234 (GRCm39)		probably null	Het
Fam135b	T	A	15: 71,320,525 (GRCm39)	H1334L	probably benign	Het
Fancg	A	T	4: 43,008,897 (GRCm39)	H113Q	probably benign	Het
Gfap	G	A	11: 102,787,810 (GRCm39)	A45V	probably benign	Het
Gjd3	A	T	11: 98,873,247 (GRCm39)	L199Q	probably damaging	Het
Gvin-ps3	A	G	7: 105,682,130 (GRCm39)		noncoding transcript	Het
H13	A	G	2: 152,519,472 (GRCm39)	D65G	probably damaging	Het
Hcls1	T	C	16: 36,757,662 (GRCm39)	V5A	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Iqgap3	T	C	3: 88,011,665 (GRCm39)	Y817H	probably damaging	Het
Iqsec2	C	T	X: 150,992,049 (GRCm39)	T562I	probably damaging	Het
Klb	A	G	5: 65,537,382 (GRCm39)	Y904C	probably damaging	Het
Lamc3	A	G	2: 31,821,964 (GRCm39)	E1304G	probably benign	Het
Lrp4	T	C	2: 91,342,015 (GRCm39)	V1876A	probably benign	Het
Magi3	T	C	3: 104,127,030 (GRCm39)	T85A	probably damaging	Het
Map3k12	C	T	15: 102,409,694 (GRCm39)	A694T	probably benign	Het
Mex3b	T	C	7: 82,519,031 (GRCm39)	S449P	possibly damaging	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nars2	T	C	7: 96,622,771 (GRCm39)		probably null	Het
Nlrp1a	T	G	11: 70,988,030 (GRCm39)	M1046L	probably benign	Het
Nphs1	T	G	7: 30,181,390 (GRCm39)		probably null	Het
Nup133	G	A	8: 124,671,040 (GRCm39)	T119M	probably benign	Het
Or6c201	G	T	10: 128,969,450 (GRCm39)	N62K	possibly damaging	Het
Pcdhga9	A	T	18: 37,871,694 (GRCm39)	I508F	probably damaging	Het
Phactr3	A	G	2: 177,817,199 (GRCm39)		probably benign	Het
Plcb3	T	C	19: 6,943,193 (GRCm39)	K155E	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Prss38	T	C	11: 59,263,854 (GRCm39)	Y286C	probably damaging	Het
Psg16	T	C	7: 16,824,623 (GRCm39)	S45P	possibly damaging	Het
Ptpn21	G	T	12: 98,654,507 (GRCm39)	P820Q	probably damaging	Het
Ptpn21	A	G	12: 98,681,319 (GRCm39)	V105A	probably damaging	Het
Rnf7	A	G	9: 96,360,463 (GRCm39)	M58T	probably benign	Het
Slc25a11	G	A	11: 70,535,677 (GRCm39)	A287V	probably benign	Het
Slit2	G	T	5: 48,377,423 (GRCm39)		probably null	Het
Suco	A	G	1: 161,672,421 (GRCm39)	Y460H	probably damaging	Het
Tnxb	C	T	17: 34,897,636 (GRCm39)	Q804*	probably null	Het
Trpv6	A	G	6: 41,602,172 (GRCm39)	I379T	possibly damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Virma	A	G	4: 11,513,901 (GRCm39)	E585G	possibly damaging	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Vmn2r88	A	T	14: 51,655,435 (GRCm39)	D549V	probably damaging	Het

Other mutations in Kremen1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01813:Kremen1	APN	11	5,149,667 (GRCm39)	missense	probably benign	0.00
R0038:Kremen1	UTSW	11	5,157,703 (GRCm39)	splice site	probably benign
R0511:Kremen1	UTSW	11	5,165,447 (GRCm39)	missense	probably damaging	1.00
R1557:Kremen1	UTSW	11	5,165,373 (GRCm39)	splice site	probably null
R1579:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R1729:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R1784:Kremen1	UTSW	11	5,151,792 (GRCm39)	unclassified	probably benign
R1800:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R2079:Kremen1	UTSW	11	5,151,794 (GRCm39)	frame shift	probably null
R2100:Kremen1	UTSW	11	5,151,788 (GRCm39)	unclassified	probably benign
R2286:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R2298:Kremen1	UTSW	11	5,151,788 (GRCm39)	unclassified	probably benign
R2352:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R2512:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R2761:Kremen1	UTSW	11	5,151,792 (GRCm39)	unclassified	probably benign
R2846:Kremen1	UTSW	11	5,151,793 (GRCm39)	unclassified	probably benign
R2882:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R2944:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R2980:Kremen1	UTSW	11	5,151,794 (GRCm39)	unclassified	probably benign
R3151:Kremen1	UTSW	11	5,145,012 (GRCm39)	missense	probably damaging	0.99
R3610:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R3831:Kremen1	UTSW	11	5,151,794 (GRCm39)	unclassified	probably benign
R3957:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign
R4231:Kremen1	UTSW	11	5,193,881 (GRCm39)	nonsense	probably null
R5627:Kremen1	UTSW	11	5,149,709 (GRCm39)	missense	probably benign	0.01
R6818:Kremen1	UTSW	11	5,145,051 (GRCm39)	missense	probably benign	0.02
R7584:Kremen1	UTSW	11	5,144,964 (GRCm39)	missense	possibly damaging	0.95
R8803:Kremen1	UTSW	11	5,144,981 (GRCm39)	missense	probably benign	0.01
T0975:Kremen1	UTSW	11	5,145,105 (GRCm39)	missense	probably benign	0.02
Y4339:Kremen1	UTSW	11	5,151,791 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- ACATGTGTCTGCAGGGGAAG -3'
(R):5'- CATGTTCCCCACGTGTGTAC -3'

Sequencing Primer
(F):5'- GAAGCACCCACAAGCACCTTTG -3'
(R):5'- GTGTACCCTACGCACATGC -3'

Posted On

2015-07-06