Incidental Mutation 'R4624:Kcp'
ID 346407
Institutional Source Beutler Lab
Gene Symbol Kcp
Ensembl Gene ENSMUSG00000059022
Gene Name kielin/chordin-like protein
Synonyms Crim2, LOC333088, KCP
MMRRC Submission 041889-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R4624 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 29473161-29507951 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29482813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1419 (F1419L)
Ref Sequence ENSEMBL: ENSMUSP00000099135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078112] [ENSMUST00000091391] [ENSMUST00000101614] [ENSMUST00000159479]
AlphaFold Q3U492
Predicted Effect probably benign
Transcript: ENSMUST00000078112
SMART Domains Protein: ENSMUSP00000077251
Gene: ENSMUSG00000059022

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
SMART Domains Protein: ENSMUSP00000088954
Gene: ENSMUSG00000059022

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 possibly damaging
Transcript: ENSMUST00000101614
AA Change: F1419L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099135
Gene: ENSMUSG00000059022
AA Change: F1419L

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 noncoding transcript
Transcript: ENSMUST00000158018
Predicted Effect probably benign
Transcript: ENSMUST00000159479
SMART Domains Protein: ENSMUSP00000124771
Gene: ENSMUSG00000059022

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 noncoding transcript
Transcript: ENSMUST00000159482
Predicted Effect probably benign
Transcript: ENSMUST00000161276
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161655
Meta Mutation Damage Score 0.0740 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 93% (85/91)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730409E04Rik A G 4: 126,505,873 (GRCm39) T134A possibly damaging Het
Adamts18 C T 8: 114,499,800 (GRCm39) W371* probably null Het
Adgb C A 10: 10,278,748 (GRCm39) V267L probably benign Het
Akr1c13 G T 13: 4,247,869 (GRCm39) V214F probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Ankrd52 A G 10: 128,225,128 (GRCm39) H863R probably damaging Het
Ap3b1 A G 13: 94,619,734 (GRCm39) R766G unknown Het
Apol7c A G 15: 77,410,595 (GRCm39) F117S probably damaging Het
Bcr A T 10: 74,989,752 (GRCm39) E716V probably damaging Het
Borcs6 T C 11: 68,951,423 (GRCm39) L267P probably damaging Het
Ccdc184 A T 15: 98,066,638 (GRCm39) N148Y probably benign Het
Ccdc50 A G 16: 27,255,351 (GRCm39) K223R probably null Het
Cd2 T G 3: 101,194,747 (GRCm39) K114Q probably benign Het
Cdh19 T C 1: 110,859,981 (GRCm39) K167E probably benign Het
Cep131 T C 11: 119,961,658 (GRCm39) E558G probably damaging Het
Cmya5 A T 13: 93,200,059 (GRCm39) V3423E probably damaging Het
Cnot6l A G 5: 96,225,070 (GRCm39) V541A probably benign Het
Cntn5 A T 9: 9,704,809 (GRCm39) C663* probably null Het
Dnaaf4 A G 9: 72,871,453 (GRCm39) I238V probably benign Het
Dnah12 T C 14: 26,456,913 (GRCm39) I893T possibly damaging Het
Dop1a G A 9: 86,403,578 (GRCm39) V129M probably damaging Het
Exoc6b A G 6: 84,831,791 (GRCm39) probably benign Het
Ext2 A G 2: 93,533,545 (GRCm39) V671A probably benign Het
Fcamr T G 1: 130,730,999 (GRCm39) L28R probably damaging Het
Fer1l6 T C 15: 58,425,554 (GRCm39) I144T probably damaging Het
Frem1 A G 4: 82,907,343 (GRCm39) L839P probably damaging Het
Fscn2 A T 11: 120,258,169 (GRCm39) I364F probably benign Het
Gm10291 T C 3: 78,824,581 (GRCm39) noncoding transcript Het
Gm29125 T C 1: 80,362,676 (GRCm39) noncoding transcript Het
Grin2b T C 6: 135,710,823 (GRCm39) M908V probably damaging Het
Helz2 T C 2: 180,881,101 (GRCm39) E436G probably damaging Het
Hfe A T 13: 23,890,061 (GRCm39) C149* probably null Het
Hs1bp3 T C 12: 8,386,357 (GRCm39) V253A probably benign Het
Kat14 A G 2: 144,246,140 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnh3 T A 15: 99,124,253 (GRCm39) D47E probably damaging Het
Kera A G 10: 97,445,493 (GRCm39) N284S probably benign Het
Klhl24 A G 16: 19,938,873 (GRCm39) D476G probably damaging Het
Krt79 T A 15: 101,848,241 (GRCm39) T137S possibly damaging Het
Lilrb4a A G 10: 51,367,584 (GRCm39) Y42C probably damaging Het
Lnx1 C T 5: 74,821,121 (GRCm39) probably benign Het
Map3k14 A G 11: 103,121,927 (GRCm39) Y497H probably damaging Het
Mmut G A 17: 41,257,946 (GRCm39) E371K probably damaging Het
Nkx2-6 A G 14: 69,412,375 (GRCm39) Q181R probably damaging Het
Notch1 T C 2: 26,368,093 (GRCm39) K631R possibly damaging Het
Or5an10 C T 19: 12,276,347 (GRCm39) V50I probably benign Het
Pcdh9 T A 14: 94,123,845 (GRCm39) N775I probably damaging Het
Phkb T A 8: 86,575,341 (GRCm39) probably benign Het
Pick1 T A 15: 79,130,666 (GRCm39) I250N probably damaging Het
Plec T C 15: 76,059,335 (GRCm39) E3556G probably damaging Het
Prex2 C T 1: 11,359,489 (GRCm39) Q1566* probably null Het
Ptgr2 T G 12: 84,355,128 (GRCm39) F287L possibly damaging Het
Ptprv T C 1: 135,051,869 (GRCm39) noncoding transcript Het
Rab5b G T 10: 128,519,130 (GRCm39) H83Q probably benign Het
Ranbp6 A T 19: 29,788,263 (GRCm39) Y696* probably null Het
Rapgef3 G T 15: 97,656,810 (GRCm39) D318E probably damaging Het
Rmi1 A G 13: 58,556,950 (GRCm39) R400G probably benign Het
Rsrc1 T C 3: 67,257,311 (GRCm39) V241A probably damaging Het
Ryr2 A T 13: 12,121,301 (GRCm39) I11N possibly damaging Het
S100a11 T C 3: 93,433,321 (GRCm39) L55P probably damaging Het
Sec13 A G 6: 113,706,652 (GRCm39) S254P probably benign Het
Slc25a36 G A 9: 96,961,178 (GRCm39) T147I probably damaging Het
Spata31d1c A G 13: 65,184,411 (GRCm39) E651G probably benign Het
Stox2 C A 8: 47,646,851 (GRCm39) R203L probably damaging Het
Tbc1d30 A T 10: 121,132,691 (GRCm39) D224E probably damaging Het
Tdrd6 A G 17: 43,936,881 (GRCm39) L1389P probably damaging Het
Tmprss11b T C 5: 86,812,895 (GRCm39) S134G probably benign Het
Tmtc2 A T 10: 105,139,511 (GRCm39) S672T probably benign Het
Tnnt1 G A 7: 4,515,267 (GRCm39) probably benign Het
Tpst2 A G 5: 112,456,162 (GRCm39) M234V probably damaging Het
Ttbk2 T C 2: 120,603,804 (GRCm39) D208G probably benign Het
Ube2c A G 2: 164,614,093 (GRCm39) N143S possibly damaging Het
Unc45b T A 11: 82,816,835 (GRCm39) M425K probably benign Het
Uvssa G A 5: 33,547,300 (GRCm39) E289K possibly damaging Het
Vmn2r11 T A 5: 109,200,101 (GRCm39) R451W probably damaging Het
Vmn2r45 T C 7: 8,484,341 (GRCm39) Y488C probably damaging Het
Vmn2r55 T A 7: 12,404,627 (GRCm39) I259F possibly damaging Het
Wdfy3 C T 5: 102,031,949 (GRCm39) R2277Q possibly damaging Het
Wdr64 T G 1: 175,599,829 (GRCm39) M111R 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
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'- TGCCTTCCATCAATACAAACTGG -3'
(R):5'- AGGTCCTGCTCAATTTTGCC -3'

Sequencing Primer
(F):5'- CCCCTTACCACAGAGTGTAGG -3'
(R):5'- GCTCAATTTTGCCAGCCATG -3'
Posted On 2015-09-25