Incidental Mutation 'R0835:Kremen2'
ID 77862
Institutional Source Beutler Lab
Gene Symbol Kremen2
Ensembl Gene ENSMUSG00000040680
Gene Name kringle containing transmembrane protein 2
Synonyms Krm2, 2900054E04Rik
MMRRC Submission 039014-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R0835 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 23960171-23964807 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 23961811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 232 (P232Q)
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

DomainStartEndE-ValueType
Pfam:HlyIII 43 254 1e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000046525
AA Change: P232Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000046369
Gene: ENSMUSG00000040680
AA Change: P232Q

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.2%
  • 20x: 90.7%
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. 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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik G T 6: 146,855,036 (GRCm39) probably benign Het
Abca16 A G 7: 120,065,007 (GRCm39) T555A probably benign Het
Abca4 A T 3: 121,919,862 (GRCm39) D1048V probably damaging Het
Abcf2 G T 5: 24,779,251 (GRCm39) T99N probably damaging Het
Acan A T 7: 78,763,980 (GRCm39) S2119C probably damaging Het
Adgre4 G A 17: 56,106,637 (GRCm39) C292Y probably damaging Het
Alk A G 17: 72,176,837 (GRCm39) F1489S probably damaging Het
Ampd2 A G 3: 107,983,818 (GRCm39) V573A possibly damaging Het
Aoc1 T C 6: 48,882,448 (GRCm39) F130S probably damaging Het
Bbs2 A T 8: 94,801,887 (GRCm39) I554N probably damaging Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Cbfa2t3 T C 8: 123,374,517 (GRCm39) H76R probably benign Het
Cdc14a G T 3: 116,122,171 (GRCm39) N216K probably benign Het
Cep126 T C 9: 8,130,224 (GRCm39) Y69C probably damaging Het
Cep135 A T 5: 76,763,553 (GRCm39) R514S probably benign Het
Cfi A T 3: 129,662,191 (GRCm39) Y390F probably damaging Het
Chd8 T C 14: 52,441,482 (GRCm39) D870G probably benign Het
Clptm1 A G 7: 19,369,599 (GRCm39) V437A possibly damaging Het
Coro2b T C 9: 62,333,119 (GRCm39) N422S possibly damaging Het
Coro7 T C 16: 4,450,118 (GRCm39) E577G probably benign Het
Crh G A 3: 19,748,528 (GRCm39) P38L probably benign Het
Ctif T A 18: 75,568,407 (GRCm39) D577V probably damaging Het
Deup1 T A 9: 15,511,047 (GRCm39) Q244L probably damaging Het
Dhx16 A G 17: 36,192,581 (GRCm39) E171G probably damaging Het
Dnah11 A C 12: 117,880,523 (GRCm39) Y3866D probably damaging Het
Dync1i2 C T 2: 71,081,316 (GRCm39) L508F probably damaging Het
Dync2h1 T A 9: 7,116,642 (GRCm39) probably null Het
E2f4 C T 8: 106,027,140 (GRCm39) Q235* probably null Het
Eif2b3 A G 4: 116,916,002 (GRCm39) H203R probably damaging Het
Epha5 A T 5: 84,534,101 (GRCm39) W77R probably damaging Het
Gpx6 C T 13: 21,501,238 (GRCm39) P109S probably damaging Het
Gsdmc4 A T 15: 63,765,649 (GRCm39) V300E probably damaging Het
Gspt1 A C 16: 11,056,802 (GRCm39) S198A probably benign Het
Ift70a2 T C 2: 75,808,494 (GRCm39) N6S probably benign Het
Itpk1 C T 12: 102,641,707 (GRCm39) V39M probably damaging Het
Lamtor4 C A 5: 138,257,320 (GRCm39) T74K probably benign Het
Mbtd1 T A 11: 93,822,665 (GRCm39) F492I probably benign Het
Mroh1 G T 15: 76,336,083 (GRCm39) V1486F probably damaging Het
Myg1 G A 15: 102,240,537 (GRCm39) V76M probably damaging Het
Myo16 G T 8: 10,322,766 (GRCm39) Q65H probably damaging Het
Ncapg A G 5: 45,838,790 (GRCm39) E487G probably damaging Het
Ncoa5 T C 2: 164,844,714 (GRCm39) E332G probably damaging Het
Nek6 T A 2: 38,459,643 (GRCm39) I162N possibly damaging Het
Nwd2 C A 5: 63,957,473 (GRCm39) R268S probably damaging Het
Or4c11 T C 2: 88,695,345 (GRCm39) V132A probably benign Het
Or9a7 T C 6: 40,521,272 (GRCm39) I214V probably benign Het
Palm3 T G 8: 84,754,776 (GRCm39) S141A probably benign Het
Pbrm1 T C 14: 30,789,536 (GRCm39) F728L probably damaging Het
Phf3 A G 1: 30,869,632 (GRCm39) V472A probably benign Het
Plekha5 T A 6: 140,514,576 (GRCm39) L35* probably null Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Ppp6r2 G A 15: 89,152,785 (GRCm39) E309K possibly damaging Het
Ptpn6 T A 6: 124,704,499 (GRCm39) probably null Het
Rasgrf1 T C 9: 89,882,824 (GRCm39) V882A probably benign Het
Ryr3 T G 2: 112,480,483 (GRCm39) E4335D probably benign Het
Slc12a5 T A 2: 164,835,958 (GRCm39) I892N probably damaging Het
Slc22a2 G A 17: 12,831,318 (GRCm39) M369I probably benign Het
Sox10 A T 15: 79,040,641 (GRCm39) Y300N probably damaging Het
Speg T C 1: 75,352,318 (GRCm39) F79L probably benign Het
Sult1b1 T A 5: 87,665,311 (GRCm39) I208L probably benign Het
Syt9 A G 7: 107,105,737 (GRCm39) N460S probably benign Het
Tecpr1 T A 5: 144,149,410 (GRCm39) N339I possibly damaging Het
Tmem63b C A 17: 45,971,870 (GRCm39) D782Y possibly damaging Het
Ttn T C 2: 76,725,105 (GRCm39) probably benign Het
Upk3bl G T 5: 136,086,185 (GRCm39) R40S probably benign Het
Usp28 T C 9: 48,912,824 (GRCm39) I25T probably damaging Het
Vmn2r27 A G 6: 124,177,583 (GRCm39) Y474H probably damaging Het
Vps13a A T 19: 16,712,246 (GRCm39) probably null Het
Wdr36 A T 18: 32,982,135 (GRCm39) N371I possibly damaging Het
Wnt7b A G 15: 85,421,978 (GRCm39) F228S probably damaging Het
Xirp2 T C 2: 67,338,254 (GRCm39) I165T possibly damaging Het
Zan T G 5: 137,406,659 (GRCm39) probably benign Het
Zfp760 A G 17: 21,942,559 (GRCm39) D578G possibly damaging Het
Zfyve19 T A 2: 119,041,266 (GRCm39) S61T probably benign Het
Zfyve9 T C 4: 108,575,866 (GRCm39) D405G probably damaging Het
Other mutations in Kremen2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AAGCCTTGAGCATGGCCTCTTG -3'
(R):5'- TGAACCTGATGGTGAAGCCAGC -3'

Sequencing Primer
(F):5'- TCGCTGCGGAAGGTGAG -3'
(R):5'- CCTATTTAAAGAAACTGAGCGGTGC -3'
Posted On 2013-10-16