Incidental Mutation 'R6285:Kcp'
ID 508168
Institutional Source Beutler Lab
Gene Symbol Kcp
Ensembl Gene ENSMUSG00000059022
Gene Name kielin/chordin-like protein
Synonyms Crim2, LOC333088, KCP
MMRRC Submission 044455-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R6285 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 29473161-29507951 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 29502364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 227 (V227L)
Ref Sequence ENSEMBL: ENSMUSP00000088954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078112] [ENSMUST00000091391] [ENSMUST00000101614] [ENSMUST00000161237]
AlphaFold Q3U492
Predicted Effect probably benign
Transcript: ENSMUST00000078112
AA Change: V227L

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000077251
Gene: ENSMUSG00000059022
AA Change: V227L

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SCOP:d1fxkc_ 64 91 7e-3 SMART
VWC 136 190 1.41e-13 SMART
VWC 194 250 1.24e-9 SMART
VWC 255 311 4.55e-8 SMART
VWC 314 369 8.88e-11 SMART
VWC 428 484 9.15e-13 SMART
VWC 487 543 7.61e-10 SMART
VWC 546 601 4.05e-5 SMART
VWC 604 660 8.28e-11 SMART
VWC 667 723 6.58e-5 SMART
VWC 726 780 2.14e-4 SMART
VWC 783 839 1.98e-8 SMART
VWC 842 898 1.35e-1 SMART
VWC 901 957 5.77e-10 SMART
VWC 960 1015 1.21e-3 SMART
VWC 1018 1083 2.44e-8 SMART
VWC 1090 1143 1.05e-3 SMART
VWC 1150 1207 2.93e-11 SMART
Pfam:VWD 1214 1254 4.9e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000091391
AA Change: V227L

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000088954
Gene: ENSMUSG00000059022
AA Change: V227L

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SCOP:d1fxkc_ 64 91 7e-3 SMART
VWC 136 190 1.41e-13 SMART
VWC 194 250 1.24e-9 SMART
VWC 255 311 4.55e-8 SMART
VWC 314 369 8.88e-11 SMART
VWC 428 484 9.15e-13 SMART
VWC 487 543 7.61e-10 SMART
VWC 546 601 4.05e-5 SMART
VWC 604 660 8.28e-11 SMART
VWC 667 723 6.58e-5 SMART
VWC 726 780 2.14e-4 SMART
VWC 783 839 1.98e-8 SMART
VWC 842 898 1.35e-1 SMART
VWC 901 957 5.77e-10 SMART
VWC 960 1015 1.21e-3 SMART
VWC 1018 1082 6.53e-9 SMART
VWC 1089 1142 1.05e-3 SMART
VWC 1149 1206 2.93e-11 SMART
Pfam:VWD 1213 1253 4.6e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101614
AA Change: V227L

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099135
Gene: ENSMUSG00000059022
AA Change: V227L

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SCOP:d1fxkc_ 64 91 8e-3 SMART
VWC 136 190 1.41e-13 SMART
VWC 194 250 1.24e-9 SMART
VWC 255 311 4.55e-8 SMART
VWC 314 369 8.88e-11 SMART
VWC 428 484 9.15e-13 SMART
VWC 487 543 7.61e-10 SMART
VWC 546 601 4.05e-5 SMART
VWC 604 660 8.28e-11 SMART
VWC 667 723 6.58e-5 SMART
VWC 726 780 2.14e-4 SMART
VWC 783 839 1.98e-8 SMART
VWC 842 898 1.35e-1 SMART
VWC 901 957 5.77e-10 SMART
VWC 960 1015 1.21e-3 SMART
VWC 1018 1083 2.44e-8 SMART
VWC 1090 1143 1.05e-3 SMART
VWC 1150 1207 2.93e-11 SMART
VWD 1201 1362 6.09e-50 SMART
C8 1404 1479 1.55e-34 SMART
Predicted Effect unknown
Transcript: ENSMUST00000160181
AA Change: V50L
SMART Domains Protein: ENSMUSP00000125699
Gene: ENSMUSG00000059022
AA Change: V50L

DomainStartEndE-ValueType
VWC 18 74 1.24e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161237
SMART Domains Protein: ENSMUSP00000124097
Gene: ENSMUSG00000059022

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
coiled coil region 60 92 N/A INTRINSIC
internal_repeat_1 94 117 8.56e-6 PROSPERO
internal_repeat_1 136 159 8.56e-6 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162959
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.8%
  • 20x: 96.9%
Validation Efficiency 100% (68/68)
MGI Phenotype PHENOTYPE: Homozygous null mice display increased sensitivity to renal injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 A T 3: 36,136,324 (GRCm39) M370L probably benign Het
Aimp1 A G 3: 132,373,265 (GRCm39) M225T possibly damaging Het
Atp8a1 T C 5: 67,824,950 (GRCm39) I809V possibly damaging Het
Bbs10 A G 10: 111,135,622 (GRCm39) Y245C probably damaging Het
Cabin1 A T 10: 75,520,157 (GRCm39) F1572Y probably damaging Het
Cd79a A G 7: 24,598,772 (GRCm39) N107S possibly damaging Het
Cdc7 G A 5: 107,130,925 (GRCm39) A428T probably benign Het
Cep290 A G 10: 100,359,191 (GRCm39) T974A probably benign Het
Cep350 A T 1: 155,829,120 (GRCm39) N261K possibly damaging Het
Cfap46 T A 7: 139,241,001 (GRCm39) D8V probably damaging Het
Col6a4 T C 9: 105,952,185 (GRCm39) D571G probably damaging Het
Cpe A C 8: 65,070,645 (GRCm39) V200G probably benign Het
Ctnnd1 C T 2: 84,444,231 (GRCm39) probably null Het
D5Ertd579e A C 5: 36,772,921 (GRCm39) C491W probably damaging Het
Dek A G 13: 47,252,856 (GRCm39) I183T probably damaging Het
Dennd1a A T 2: 37,742,453 (GRCm39) H437Q possibly damaging Het
Dido1 C T 2: 180,302,940 (GRCm39) A1655T probably benign Het
Eva1b A G 4: 126,043,278 (GRCm39) D106G probably damaging Het
Evc2 G T 5: 37,581,923 (GRCm39) S1189I possibly damaging Het
Faap100 A T 11: 120,267,558 (GRCm39) L405Q probably damaging Het
Fbxw15 T A 9: 109,386,234 (GRCm39) M249L probably benign Het
Gbp10 A T 5: 105,366,326 (GRCm39) L526Q probably damaging Het
Gm19402 A C 10: 77,526,354 (GRCm39) probably benign Het
Gm2244 A G 14: 19,590,865 (GRCm39) Y141H probably damaging Het
Gm4181 A T 14: 51,870,666 (GRCm39) N98K probably damaging Het
Golga4 C T 9: 118,387,695 (GRCm39) R616* probably null Het
Gpank1 T A 17: 35,343,266 (GRCm39) S226T probably damaging Het
Hipk3 T C 2: 104,301,770 (GRCm39) M141V probably damaging Het
Hoxc11 T C 15: 102,863,178 (GRCm39) V73A probably benign Het
Igf1r T G 7: 67,653,885 (GRCm39) I141S possibly damaging Het
Jak2 T A 19: 29,273,059 (GRCm39) F628I probably benign Het
Knl1 T G 2: 118,902,422 (GRCm39) C1374W probably damaging Het
Larp6 A T 9: 60,645,043 (GRCm39) R394S probably benign Het
Lilra5 G A 7: 4,245,114 (GRCm39) G253R probably damaging Het
Map3k4 A G 17: 12,482,945 (GRCm39) S591P probably damaging Het
Mdfic2 T C 6: 98,215,134 (GRCm39) D163G probably damaging Het
Minar2 A G 18: 59,205,296 (GRCm39) K28R probably benign Het
Mrpl16 T A 19: 11,750,332 (GRCm39) I72K probably damaging Het
Nol11 C G 11: 107,071,860 (GRCm39) R244S probably benign Het
Nr2f1 T C 13: 78,343,782 (GRCm39) T161A probably benign Het
Nrdc G T 4: 108,895,203 (GRCm39) V476F probably damaging Het
Or10j7 G T 1: 173,011,477 (GRCm39) H175N probably damaging Het
Or10z1 A T 1: 174,078,395 (GRCm39) S33T possibly damaging Het
Or13a22 T A 7: 140,072,626 (GRCm39) L25Q possibly damaging Het
Or13m2-ps1 A T 6: 42,777,843 (GRCm39) H56L probably benign Het
P2rx1 A G 11: 72,898,974 (GRCm39) I62V probably benign Het
Pcdhgc5 A T 18: 37,953,674 (GRCm39) Y316F probably benign Het
Pecam1 T C 11: 106,576,065 (GRCm39) D490G probably benign Het
Pfkfb2 A T 1: 130,635,299 (GRCm39) Y87* probably null Het
Poldip2 A G 11: 78,408,458 (GRCm39) probably null Het
Ppp2r5b T A 19: 6,280,566 (GRCm39) Q304L probably benign Het
Pramel26 A G 4: 143,542,609 (GRCm39) C4R probably damaging Het
Psg26 A G 7: 18,216,753 (GRCm39) F29L probably benign Het
Ptk6 A T 2: 180,838,886 (GRCm39) L289Q probably null Het
Ptprt A T 2: 161,743,417 (GRCm39) I508N possibly damaging Het
Rasgrp4 T C 7: 28,847,808 (GRCm39) F406S probably damaging Het
Rspo3 A G 10: 29,375,926 (GRCm39) probably null Het
Septin8 G T 11: 53,425,594 (GRCm39) probably null Het
Sirt2 A C 7: 28,487,471 (GRCm39) T345P probably benign Het
Slc6a20b T C 9: 123,438,161 (GRCm39) E205G possibly damaging Het
Sqstm1 G A 11: 50,093,418 (GRCm39) Q327* probably null Het
Susd3 T A 13: 49,390,997 (GRCm39) S98C probably damaging Het
Tada2b G A 5: 36,634,186 (GRCm39) R56W probably damaging Het
Tbc1d2 A T 4: 46,615,045 (GRCm39) V546E possibly damaging Het
Tbx6 A G 7: 126,380,740 (GRCm39) Q21R possibly damaging Het
Usp24 T G 4: 106,231,297 (GRCm39) probably null Het
Vinac1 T G 2: 128,879,719 (GRCm39) T736P possibly damaging Het
Vmn2r103 A G 17: 20,032,406 (GRCm39) T727A probably benign Het
Wdr48 C T 9: 119,749,676 (GRCm39) T531M probably damaging Het
Other mutations in Kcp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00474:Kcp APN 6 29,482,656 (GRCm39) missense probably benign
IGL01344:Kcp APN 6 29,498,950 (GRCm39) splice site probably null
IGL01404:Kcp APN 6 29,496,638 (GRCm39) missense probably damaging 0.99
IGL01735:Kcp APN 6 29,498,878 (GRCm39) missense probably damaging 1.00
IGL01776:Kcp APN 6 29,497,907 (GRCm39) missense probably damaging 1.00
IGL02092:Kcp APN 6 29,489,031 (GRCm39) critical splice donor site probably null
IGL02252:Kcp APN 6 29,504,548 (GRCm39) missense probably damaging 1.00
IGL02690:Kcp APN 6 29,484,998 (GRCm39) unclassified probably benign
IGL02817:Kcp APN 6 29,496,968 (GRCm39) missense probably damaging 0.97
IGL03074:Kcp APN 6 29,496,630 (GRCm39) missense probably damaging 1.00
P0045:Kcp UTSW 6 29,498,347 (GRCm39) missense probably damaging 1.00
R0219:Kcp UTSW 6 29,495,784 (GRCm39) missense probably damaging 1.00
R0355:Kcp UTSW 6 29,496,926 (GRCm39) missense possibly damaging 0.89
R0738:Kcp UTSW 6 29,490,438 (GRCm39) missense probably benign 0.24
R1111:Kcp UTSW 6 29,485,422 (GRCm39) missense probably benign
R1304:Kcp UTSW 6 29,501,291 (GRCm39) unclassified probably benign
R1663:Kcp UTSW 6 29,498,964 (GRCm39) missense possibly damaging 0.68
R1808:Kcp UTSW 6 29,505,654 (GRCm39) missense probably benign 0.05
R1907:Kcp UTSW 6 29,497,834 (GRCm39) unclassified probably benign
R2030:Kcp UTSW 6 29,489,071 (GRCm39) missense probably damaging 1.00
R2099:Kcp UTSW 6 29,496,164 (GRCm39) nonsense probably null
R3411:Kcp UTSW 6 29,482,845 (GRCm39) missense possibly damaging 0.68
R3982:Kcp UTSW 6 29,484,636 (GRCm39) missense probably damaging 1.00
R3983:Kcp UTSW 6 29,484,636 (GRCm39) missense probably damaging 1.00
R4223:Kcp UTSW 6 29,482,257 (GRCm39) missense possibly damaging 0.55
R4377:Kcp UTSW 6 29,493,202 (GRCm39) missense probably damaging 1.00
R4570:Kcp UTSW 6 29,491,847 (GRCm39) nonsense probably null
R4624:Kcp UTSW 6 29,482,813 (GRCm39) missense possibly damaging 0.94
R4694:Kcp UTSW 6 29,493,196 (GRCm39) missense probably benign 0.29
R4750:Kcp UTSW 6 29,484,625 (GRCm39) missense probably benign 0.03
R4968:Kcp UTSW 6 29,497,628 (GRCm39) nonsense probably null
R5053:Kcp UTSW 6 29,496,957 (GRCm39) missense probably benign 0.01
R5067:Kcp UTSW 6 29,492,107 (GRCm39) missense probably benign 0.06
R5253:Kcp UTSW 6 29,498,519 (GRCm39) unclassified probably benign
R5418:Kcp UTSW 6 29,504,283 (GRCm39) nonsense probably null
R6020:Kcp UTSW 6 29,502,863 (GRCm39) missense probably benign 0.03
R6033:Kcp UTSW 6 29,493,193 (GRCm39) missense probably damaging 1.00
R6033:Kcp UTSW 6 29,493,193 (GRCm39) missense probably damaging 1.00
R6088:Kcp UTSW 6 29,502,631 (GRCm39) missense probably benign
R6178:Kcp UTSW 6 29,482,887 (GRCm39) missense possibly damaging 0.68
R6310:Kcp UTSW 6 29,493,257 (GRCm39) missense probably damaging 0.98
R6369:Kcp UTSW 6 29,484,693 (GRCm39) missense probably damaging 1.00
R6860:Kcp UTSW 6 29,505,719 (GRCm39) missense probably benign 0.19
R6949:Kcp UTSW 6 29,484,611 (GRCm39) splice site probably null
R6962:Kcp UTSW 6 29,482,839 (GRCm39) missense probably benign 0.08
R7006:Kcp UTSW 6 29,499,169 (GRCm39) missense probably damaging 1.00
R7138:Kcp UTSW 6 29,491,861 (GRCm39) nonsense probably null
R7141:Kcp UTSW 6 29,487,511 (GRCm39) nonsense probably null
R7153:Kcp UTSW 6 29,499,014 (GRCm39) missense probably damaging 1.00
R7162:Kcp UTSW 6 29,497,199 (GRCm39) splice site probably null
R7334:Kcp UTSW 6 29,485,511 (GRCm39) missense probably damaging 1.00
R7565:Kcp UTSW 6 29,499,186 (GRCm39) missense probably damaging 1.00
R7671:Kcp UTSW 6 29,496,516 (GRCm39) missense probably benign 0.02
R7766:Kcp UTSW 6 29,496,846 (GRCm39) missense probably damaging 0.98
R7781:Kcp UTSW 6 29,497,764 (GRCm39) missense probably damaging 1.00
R8702:Kcp UTSW 6 29,482,750 (GRCm39) missense probably damaging 1.00
R9384:Kcp UTSW 6 29,496,618 (GRCm39) critical splice donor site probably null
R9425:Kcp UTSW 6 29,489,151 (GRCm39) missense probably benign
R9553:Kcp UTSW 6 29,485,100 (GRCm39) missense probably null 1.00
R9752:Kcp UTSW 6 29,497,754 (GRCm39) missense probably damaging 1.00
R9755:Kcp UTSW 6 29,492,460 (GRCm39) missense probably damaging 1.00
Z1176:Kcp UTSW 6 29,485,011 (GRCm39) missense probably benign 0.23
Z1177:Kcp UTSW 6 29,485,524 (GRCm39) missense probably benign 0.45
Predicted Primers PCR Primer
(F):5'- ACCGATCAAACATCAGTCTGG -3'
(R):5'- TGTCCAGTTCCAACCCATGC -3'

Sequencing Primer
(F):5'- CTCTTCCAGAAGACATGAGTTCG -3'
(R):5'- CCAGTGCTCTTGCCTGGTG -3'
Posted On 2018-03-15