Mutagenetix > Incidental Mutation

Incidental Mutation 'R2100:Kremen1'

230447

Institutional Source

Beutler Lab

Gene Symbol

Kremen1

Ensembl Gene

ENSMUSG00000020393

Gene Name

kringle containing transmembrane protein 1

Synonyms

Krm1

MMRRC Submission

040104-MU

Accession Numbers

Essential gene?

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

Stock #

R2100 (G1)

Quality Score

167

Status

Not validated

Chromosome

Chromosomal Location

5141552-5211558 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

AGGCGG to AGGCGGCGG at 5151788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q99N43

Predicted Effect

probably benign
Transcript: ENSMUST00000020662

SMART Domains

Protein: ENSMUSP00000020662
Gene: ENSMUSG00000020393

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

Predicted Effect

probably benign
Transcript: ENSMUST00000151978

SMART Domains

Protein: ENSMUSP00000121252
Gene: ENSMUSG00000020393

Domain	Start	End	E-Value	Type
Pfam:WSC	17	98	2.3e-22	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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 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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	T	17: 24,627,183 (GRCm39)	R1295W	probably damaging	Het
Abca8b	A	T	11: 109,828,608 (GRCm39)	I1430N	probably damaging	Het
Abcb1a	A	G	5: 8,763,202 (GRCm39)	T577A	probably damaging	Het
Arl5b	G	A	2: 15,078,006 (GRCm39)	M101I	probably benign	Het
C1qbp	T	A	11: 70,868,928 (GRCm39)	N278I	probably benign	Het
Cdh1	A	T	8: 107,386,300 (GRCm39)	T408S	possibly damaging	Het
Cfap54	T	A	10: 92,837,799 (GRCm39)	I1034F	possibly damaging	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Chil4	T	C	3: 106,121,663 (GRCm39)	K62R	probably benign	Het
Crebl2	A	G	6: 134,828,166 (GRCm39)	T113A	probably benign	Het
Cyp2c69	C	A	19: 39,875,130 (GRCm39)	V8L	probably benign	Het
Dpp6	A	G	5: 27,869,742 (GRCm39)	R447G	probably damaging	Het
Efcab6	A	T	15: 83,777,168 (GRCm39)		probably null	Het
Emilin1	T	G	5: 31,075,241 (GRCm39)	V494G	probably benign	Het
Enoph1	A	G	5: 100,211,645 (GRCm39)	I181V	probably null	Het
F3	T	C	3: 121,526,082 (GRCm39)	V215A	possibly damaging	Het
Fads2b	T	C	2: 85,330,593 (GRCm39)	N238S	probably damaging	Het
Fat3	G	T	9: 16,288,726 (GRCm39)	H266N	possibly damaging	Het
Frmd4a	A	G	2: 4,610,834 (GRCm39)	T995A	probably damaging	Het
Garnl3	T	C	2: 32,936,657 (GRCm39)	T171A	probably benign	Het
Hspa4l	T	C	3: 40,727,090 (GRCm39)	V476A	possibly damaging	Het
Impg2	A	G	16: 56,051,748 (GRCm39)		probably null	Het
Kctd6	T	C	14: 8,222,239 (GRCm38)	L27P	possibly damaging	Het
Kmt2d	G	T	15: 98,744,361 (GRCm39)		probably benign	Het
Lrig2	A	G	3: 104,418,946 (GRCm39)	L21P	possibly damaging	Het
Macf1	G	A	4: 123,291,699 (GRCm39)	Q3284*	probably null	Het
Mnt	A	G	11: 74,722,177 (GRCm39)	E8G	probably damaging	Het
Nbeal1	A	G	1: 60,344,430 (GRCm39)		probably null	Het
Nid2	C	T	14: 19,828,946 (GRCm39)	Q331*	probably null	Het
Nlrx1	A	G	9: 44,173,905 (GRCm39)	L432P	probably damaging	Het
Nop2	T	A	6: 125,117,785 (GRCm39)	D445E	probably damaging	Het
Nup62	T	C	7: 44,478,921 (GRCm39)		probably benign	Het
Oas2	A	G	5: 120,883,740 (GRCm39)		probably null	Het
Or5b121	A	G	19: 13,507,798 (GRCm39)	I298V	probably benign	Het
Or5p1	A	T	7: 107,916,761 (GRCm39)	Y220F	probably benign	Het
Or5w10	T	A	2: 87,375,169 (GRCm39)	T240S	probably damaging	Het
Or8k40	A	T	2: 86,584,905 (GRCm39)	M59K	possibly damaging	Het
Or9i14	A	G	19: 13,792,600 (GRCm39)	M118T	possibly damaging	Het
P3h3	T	A	6: 124,822,005 (GRCm39)	T623S	probably damaging	Het
Pkp3	T	C	7: 140,663,205 (GRCm39)	V350A	probably damaging	Het
Plekha3	T	A	2: 76,523,007 (GRCm39)	I225N	probably benign	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rnf213	A	T	11: 119,358,128 (GRCm39)	K4292*	probably null	Het
Rtkn	T	C	6: 83,126,541 (GRCm39)		probably null	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Snx10	T	C	6: 51,565,395 (GRCm39)	Y171H	probably damaging	Het
Stx12	A	T	4: 132,587,913 (GRCm39)	I173N	possibly damaging	Het
Thrb	T	A	14: 18,030,393 (GRCm38)	M379K	possibly damaging	Het
Tmem132e	T	A	11: 82,335,357 (GRCm39)	V813E	probably damaging	Het
Tnfsf12	T	C	11: 69,578,175 (GRCm39)	E134G	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpbgl	T	A	7: 99,275,651 (GRCm39)	I69F	possibly damaging	Het
Ythdc1	T	A	5: 86,964,544 (GRCm39)	S130T	possibly damaging	Het
Zbp1	A	G	2: 173,051,037 (GRCm39)	S278P	probably damaging	Het
Zfp30	A	G	7: 29,492,951 (GRCm39)	T483A	probably benign	Het
Zfp322a	G	A	13: 23,541,460 (GRCm39)	S94L	possibly damaging	Het
Zfp646	T	G	7: 127,481,359 (GRCm39)	Y1179D	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
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
R4397:Kremen1	UTSW	11	5,149,610 (GRCm39)	missense	probably benign	0.36
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'- GTTGAAATGATCTGTAGCTGAGTC -3'
(R):5'- TGACTTCCCTGACACCTACG -3'

Sequencing Primer
(F):5'- TCAGGAGGACCAAGTGTGCC -3'
(R):5'- TGACACCTACGCCACTGG -3'

Posted On

2014-09-18