Incidental Mutation 'R0219:Kcp'
ID 33720
Institutional Source Beutler Lab
Gene Symbol Kcp
Ensembl Gene ENSMUSG00000059022
Gene Name kielin/chordin-like protein
Synonyms Crim2, LOC333088, KCP
MMRRC Submission 038468-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R0219 (G1)
Quality Score 139
Status Validated
Chromosome 6
Chromosomal Location 29473161-29507951 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29495784 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 773 (R773W)
Ref Sequence ENSEMBL: ENSMUSP00000099135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078112] [ENSMUST00000091391] [ENSMUST00000101614] [ENSMUST00000159479]
AlphaFold Q3U492
Predicted Effect probably damaging
Transcript: ENSMUST00000078112
AA Change: R773W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077251
Gene: ENSMUSG00000059022
AA Change: R773W

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 damaging
Transcript: ENSMUST00000091391
AA Change: R773W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088954
Gene: ENSMUSG00000059022
AA Change: R773W

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 damaging
Transcript: ENSMUST00000101614
AA Change: R773W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099135
Gene: ENSMUSG00000059022
AA Change: R773W

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 damaging
Transcript: ENSMUST00000159479
AA Change: R44W

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124771
Gene: ENSMUSG00000059022
AA Change: R44W

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
Meta Mutation Damage Score 0.2515 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.3%
Validation Efficiency 98% (65/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A T 12: 118,849,885 (GRCm39) probably benign Het
Acacb T A 5: 114,371,005 (GRCm39) M1749K possibly damaging Het
Aff1 GCTCTCTCTC GCTCTCTCTCTC 5: 103,958,906 (GRCm39) probably benign Het
Ankle2 C T 5: 110,399,511 (GRCm39) R624* probably null Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Brca2 A G 5: 150,446,640 (GRCm39) probably benign Het
Ccdc116 T A 16: 16,959,476 (GRCm39) R404S possibly damaging Het
Ccdc171 A G 4: 83,614,678 (GRCm39) probably benign Het
Ccdc80 A G 16: 44,916,846 (GRCm39) K534R probably damaging Het
Ccna1 T C 3: 54,958,348 (GRCm39) I112V probably benign Het
Cdhr1 A C 14: 36,801,558 (GRCm39) L795R possibly damaging Het
Cilp C A 9: 65,176,872 (GRCm39) L43I possibly damaging Het
Dclk2 T C 3: 86,720,976 (GRCm39) probably benign Het
Ddx59 C A 1: 136,360,047 (GRCm39) probably benign Het
Dgkd T C 1: 87,865,996 (GRCm39) probably benign Het
Dicer1 A G 12: 104,658,384 (GRCm39) probably null Het
Dst T G 1: 34,342,559 (GRCm39) S5030A probably damaging Het
Dysf G A 6: 84,106,443 (GRCm39) probably benign Het
Farp1 C A 14: 121,481,012 (GRCm39) P471Q possibly damaging Het
Fbp2 A T 13: 63,001,862 (GRCm39) F118I probably damaging Het
Fcer1g A G 1: 171,058,795 (GRCm39) V31A possibly damaging Het
Glb1l2 A G 9: 26,717,618 (GRCm39) V21A probably benign Het
Gm9912 T C 3: 148,891,131 (GRCm39) I1V unknown Het
Guf1 G A 5: 69,716,929 (GRCm39) A164T probably damaging Het
Hbb-bs T C 7: 103,475,876 (GRCm39) H147R possibly damaging Het
Hnrnpr T A 4: 136,066,474 (GRCm39) probably benign Het
Iglon5 A T 7: 43,126,261 (GRCm39) V214E probably damaging Het
Isx C A 8: 75,616,589 (GRCm39) probably null Het
Kank4 T C 4: 98,666,702 (GRCm39) N582D probably benign Het
Kdm4c T C 4: 74,291,857 (GRCm39) C825R probably damaging Het
Krt25 G A 11: 99,208,885 (GRCm39) T315M probably benign Het
Lrp5 A T 19: 3,647,349 (GRCm39) S1298T probably damaging Het
Map3k10 T C 7: 27,356,156 (GRCm39) D921G probably damaging Het
Mrgprx1 C A 7: 47,671,294 (GRCm39) W151L probably damaging Het
Mylk3 T A 8: 86,081,873 (GRCm39) D375V probably damaging Het
Nav3 C T 10: 109,702,791 (GRCm39) probably null Het
Ncan A G 8: 70,567,984 (GRCm39) S43P probably benign Het
Necab3 G T 2: 154,388,013 (GRCm39) Q292K probably benign Het
Nptx2 T C 5: 144,484,950 (GRCm39) S148P probably damaging Het
Or2at4 A T 7: 99,385,135 (GRCm39) I262L probably benign Het
Or6p1 G A 1: 174,258,032 (GRCm39) V13I probably benign Het
Pde6a A G 18: 61,419,006 (GRCm39) E794G possibly damaging Het
Pus7 T C 5: 23,980,964 (GRCm39) Y133C possibly damaging Het
Rad21l A G 2: 151,496,508 (GRCm39) probably benign Het
Rptor A T 11: 119,712,603 (GRCm39) probably benign Het
Sart1 C A 19: 5,438,424 (GRCm39) A78S probably benign Het
Shkbp1 T C 7: 27,051,486 (GRCm39) E191G probably benign Het
Slc6a18 A T 13: 73,822,751 (GRCm39) probably null Het
Stxbp5 T C 10: 9,646,272 (GRCm39) T147A probably benign Het
Sv2b A G 7: 74,807,015 (GRCm39) probably null Het
Syne2 A T 12: 76,088,778 (GRCm39) K5045N probably damaging Het
Tmem174 A C 13: 98,773,347 (GRCm39) M161R possibly damaging Het
Tmprss7 A G 16: 45,476,820 (GRCm39) V814A probably damaging Het
Togaram2 T C 17: 72,021,225 (GRCm39) probably benign Het
Tpr T C 1: 150,319,009 (GRCm39) probably null Het
Ttn T C 2: 76,730,572 (GRCm39) probably benign Het
Ubr4 T A 4: 139,157,568 (GRCm39) L2375Q possibly damaging Het
Utp20 T C 10: 88,600,537 (GRCm39) E1987G probably damaging Het
Utrn T C 10: 12,560,195 (GRCm39) T1365A probably damaging Het
Vmn2r116 T A 17: 23,605,072 (GRCm39) Y128* probably null Het
Vmn2r5 A G 3: 64,411,734 (GRCm39) V278A probably damaging Het
Vps13d C T 4: 144,832,479 (GRCm39) S2809N probably benign Het
Zfp212 G A 6: 47,903,619 (GRCm39) R68H probably damaging Het
Zfp442 A T 2: 150,253,160 (GRCm39) L33Q probably damaging Het
Zfp629 T C 7: 127,211,255 (GRCm39) S185G probably damaging Het
Zfp738 A G 13: 67,831,508 (GRCm39) 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
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
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'- GTTATTTGCCCAAGTTCACACACCC -3'
(R):5'- AGTCACCGTGATCTCCCCAGTC -3'

Sequencing Primer
(F):5'- ctgctgcctctgcctac -3'
(R):5'- GTGATCTCCCCAGTCACTCC -3'
Posted On 2013-05-09