Incidental Mutation 'R4694:Kcp'
ID 355553
Institutional Source Beutler Lab
Gene Symbol Kcp
Ensembl Gene ENSMUSG00000059022
Gene Name kielin/chordin-like protein
Synonyms Crim2, LOC333088, KCP
MMRRC Submission 041945-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R4694 (G1)
Quality Score 111
Status Not validated
Chromosome 6
Chromosomal Location 29473161-29507951 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 29493196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 838 (T838I)
Ref Sequence ENSEMBL: ENSMUSP00000088954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078112] [ENSMUST00000091391] [ENSMUST00000101614] [ENSMUST00000159479]
AlphaFold Q3U492
Predicted Effect probably benign
Transcript: ENSMUST00000078112
AA Change: T838I

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000077251
Gene: ENSMUSG00000059022
AA Change: T838I

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: T838I

PolyPhen 2 Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000088954
Gene: ENSMUSG00000059022
AA Change: T838I

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: T838I

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000099135
Gene: ENSMUSG00000059022
AA Change: T838I

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 probably benign
Transcript: ENSMUST00000159479
AA Change: T109I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000124771
Gene: ENSMUSG00000059022
AA Change: T109I

DomainStartEndE-ValueType
VWC 1 51 4.56e-1 SMART
VWC 54 110 1.98e-8 SMART
VWC 113 169 1.35e-1 SMART
VWC 172 228 5.77e-10 SMART
VWC 231 286 1.21e-3 SMART
VWC 289 353 6.53e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160181
SMART Domains Protein: ENSMUSP00000125699
Gene: ENSMUSG00000059022

DomainStartEndE-ValueType
VWC 18 74 1.24e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162959
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,979,586 (GRCm39) F258Y probably damaging Het
Adamtsl4 C T 3: 95,587,055 (GRCm39) R765H probably damaging Het
Bicd1 T A 6: 149,311,051 (GRCm39) L42Q probably damaging Het
Cacna1e C T 1: 154,313,012 (GRCm39) probably null Het
Capn1 T A 19: 6,044,761 (GRCm39) K504* probably null Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cep350 T C 1: 155,804,332 (GRCm39) K917R probably damaging Het
Cp A T 3: 20,029,049 (GRCm39) T509S probably benign Het
Cyp2d10 T C 15: 82,288,684 (GRCm39) D266G probably damaging Het
Dhodh C G 8: 110,333,048 (GRCm39) R7P probably damaging Het
Dmxl2 A G 9: 54,354,189 (GRCm39) L419P probably benign Het
Epb41l4b A T 4: 57,019,875 (GRCm39) M84K probably benign Het
Fbln7 A G 2: 128,722,345 (GRCm39) probably null Het
Fbxw11 C T 11: 32,592,820 (GRCm39) probably benign Het
Flnc C A 6: 29,443,447 (GRCm39) P543T probably damaging Het
Grid1 T C 14: 34,748,737 (GRCm39) S186P probably damaging Het
Hcfc2 C T 10: 82,559,534 (GRCm39) T382M probably damaging Het
Hdac9 G T 12: 34,487,246 (GRCm39) L73I probably damaging Het
Hnrnpa2b1 A T 6: 51,441,163 (GRCm39) D302E probably damaging Het
Ifi204 C T 1: 173,576,825 (GRCm39) C592Y probably damaging Het
Jph1 T A 1: 17,067,729 (GRCm39) I653F probably damaging Het
Kcnj3 A G 2: 55,484,918 (GRCm39) K339E probably benign Het
Krtap26-1 A T 16: 88,444,108 (GRCm39) V171E possibly damaging Het
Lck G T 4: 129,442,765 (GRCm39) N452K possibly damaging Het
Madd A G 2: 90,990,673 (GRCm39) L1134S probably damaging Het
Mafk T C 5: 139,786,248 (GRCm39) S149P probably damaging Het
Man1c1 T C 4: 134,430,500 (GRCm39) D94G probably benign Het
Me2 T A 18: 73,934,930 (GRCm39) M38L probably benign Het
Muc2 A C 7: 141,306,082 (GRCm39) D257A probably damaging Het
Myh11 T C 16: 14,018,566 (GRCm39) K1927E probably damaging Het
Naaladl1 C T 19: 6,158,920 (GRCm39) P324S probably damaging Het
Ndufa10 T C 1: 92,379,824 (GRCm39) E303G probably benign Het
Nedd1 C T 10: 92,555,444 (GRCm39) V14I probably benign Het
Nwd1 T G 8: 73,393,958 (GRCm39) V407G probably damaging Het
Or2h15 A C 17: 38,441,748 (GRCm39) C112G probably damaging Het
Or4b1d T A 2: 89,968,593 (GRCm39) K297* probably null Het
Or4k15c T C 14: 50,321,476 (GRCm39) I221V probably benign Het
Or5w13 T A 2: 87,524,104 (GRCm39) T41S probably benign Het
Or7g29 A G 9: 19,286,694 (GRCm39) L161P probably damaging Het
Pgrmc2 T C 3: 41,024,840 (GRCm39) D144G probably damaging Het
Ppp3cb T C 14: 20,551,583 (GRCm39) N516S probably benign Het
Pramel27 T C 4: 143,579,530 (GRCm39) S372P probably damaging Het
Prelp A G 1: 133,842,485 (GRCm39) M220T probably damaging Het
Prss36 A G 7: 127,534,787 (GRCm39) W465R probably damaging Het
Pth2r C A 1: 65,375,920 (GRCm39) F59L probably benign Het
Rab20 C T 8: 11,504,485 (GRCm39) G72R probably damaging Het
Rab4a G T 8: 124,555,769 (GRCm39) G49W probably damaging Het
Rad9a G A 19: 4,250,560 (GRCm39) R85C probably damaging Het
Rhox2c A C X: 36,635,351 (GRCm39) Q4H probably benign Het
Rock1 A T 18: 10,136,152 (GRCm39) Y178* probably null Het
Scaf8 C A 17: 3,247,679 (GRCm39) L1001I probably damaging Het
Sema3b G A 9: 107,482,201 (GRCm39) P26S probably benign Het
Slc23a1 A G 18: 35,752,633 (GRCm39) L548P probably damaging Het
Sncaip A C 18: 53,039,629 (GRCm39) T548P probably benign Het
Stpg2 C T 3: 139,023,177 (GRCm39) P398S possibly damaging Het
Stpg3 A C 2: 25,103,309 (GRCm39) V260G probably damaging Het
Tbc1d9 T A 8: 83,960,875 (GRCm39) F242I probably damaging Het
Tnks1bp1 G A 2: 84,902,066 (GRCm39) R992Q probably damaging Het
Tom1l1 T G 11: 90,537,675 (GRCm39) H394P possibly damaging Het
Topors T G 4: 40,261,442 (GRCm39) N614T possibly damaging Het
Trank1 A T 9: 111,221,129 (GRCm39) Q2622L probably benign Het
Trub2 A G 2: 29,668,858 (GRCm39) S186P probably damaging Het
Unc13c T A 9: 73,479,636 (GRCm39) H1756L probably benign Het
Vmn1r9 A T 6: 57,048,314 (GRCm39) I130F probably benign Het
Wdr72 A T 9: 74,086,837 (GRCm39) I602F probably damaging Het
Zfand3 T A 17: 30,354,362 (GRCm39) F60I possibly damaging Het
Zfp946 G A 17: 22,674,692 (GRCm39) G482E probably benign 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
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
R6285:Kcp UTSW 6 29,502,364 (GRCm39) missense probably benign 0.21
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'- AGCCACTGGACGGTTTTCAG -3'
(R):5'- TCCTCCACTGATAGGCTGTG -3'

Sequencing Primer
(F):5'- CAGAGCAGGCATATGAGAATTCTG -3'
(R):5'- TCCACTGATAGGCTGTGATTATC -3'
Posted On 2015-10-21