Incidental Mutation 'R7671:Kcp'
ID 592159
Institutional Source Beutler Lab
Gene Symbol Kcp
Ensembl Gene ENSMUSG00000059022
Gene Name kielin/chordin-like protein
Synonyms Crim2, LOC333088, KCP
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R7671 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 29473161-29507951 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29496516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 633 (N633S)
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
AA Change: N633S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000077251
Gene: ENSMUSG00000059022
AA Change: N633S

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: N633S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000088954
Gene: ENSMUSG00000059022
AA Change: N633S

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: N633S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000099135
Gene: ENSMUSG00000059022
AA Change: N633S

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
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 probably benign
Transcript: ENSMUST00000160181
SMART Domains Protein: ENSMUSP00000125699
Gene: ENSMUSG00000059022

DomainStartEndE-ValueType
VWC 18 74 1.24e-9 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 C A 7: 75,219,648 (GRCm39) T17K probably damaging Het
Ankrd29 T A 18: 12,394,043 (GRCm39) K257I probably damaging Het
Bicc1 A G 10: 70,792,997 (GRCm39) L219P probably benign Het
Bltp1 T C 3: 36,997,380 (GRCm39) F1146L probably damaging Het
Boc C T 16: 44,312,212 (GRCm39) V617M Het
Ccl8 A G 11: 82,006,033 (GRCm39) probably benign Het
Col18a1 A G 10: 76,921,217 (GRCm39) L261P unknown Het
Col5a3 T A 9: 20,686,382 (GRCm39) probably null Het
Cryba4 A C 5: 112,396,039 (GRCm39) probably null Het
Csf2rb A G 15: 78,223,130 (GRCm39) Y114C probably damaging Het
Ctif T C 18: 75,605,087 (GRCm39) D484G probably damaging Het
Ctnnal1 A G 4: 56,837,848 (GRCm39) F261L probably damaging Het
Defb22 A T 2: 152,327,950 (GRCm39) N78K unknown Het
Dele1 T A 18: 38,392,978 (GRCm39) I394N probably damaging Het
Efr3a G A 15: 65,709,283 (GRCm39) probably null Het
Elp4 G T 2: 105,734,826 (GRCm39) A3E probably damaging Het
Emilin2 A G 17: 71,580,905 (GRCm39) V607A probably benign Het
Epsti1 A G 14: 78,141,930 (GRCm39) Y2C probably damaging Het
Fam81b A C 13: 76,419,412 (GRCm39) L46R probably damaging Het
Fam81b G T 13: 76,419,413 (GRCm39) L46I possibly damaging Het
Fbxo15 T A 18: 84,982,278 (GRCm39) H288Q probably damaging Het
Gabrg1 T A 5: 70,973,323 (GRCm39) N77I probably damaging Het
Ganab A G 19: 8,890,216 (GRCm39) Y715C possibly damaging Het
H2bc27 T C 11: 58,840,102 (GRCm39) S113P possibly damaging Het
Iqgap2 T C 13: 95,764,627 (GRCm39) D1539G probably damaging Het
Krt6a C A 15: 101,598,978 (GRCm39) S529I unknown Het
Leo1 A G 9: 75,352,844 (GRCm39) H129R probably benign Het
Lmf1 G A 17: 25,798,323 (GRCm39) V55M possibly damaging Het
Mcm9 A G 10: 53,413,665 (GRCm39) S472P probably benign Het
Med27 T A 2: 29,267,950 (GRCm39) V33D Het
Mgat4f T C 1: 134,317,800 (GRCm39) C191R probably benign Het
Mup15 C T 4: 61,356,526 (GRCm39) E80K probably benign Het
Myo18a G A 11: 77,750,246 (GRCm39) R199H Het
Nebl T A 2: 17,395,727 (GRCm39) R558* probably null Het
Or10ak8 A T 4: 118,774,183 (GRCm39) H160Q probably benign Het
Or11g7 G T 14: 50,691,342 (GRCm39) V278L probably benign Het
Or12e9 A G 2: 87,202,613 (GRCm39) T246A probably damaging Het
Or4a79 A T 2: 89,551,603 (GRCm39) I284K probably damaging Het
Or5p78 T C 7: 108,212,198 (GRCm39) I228T probably damaging Het
Or6c217 T C 10: 129,738,222 (GRCm39) D119G probably damaging Het
Or8b41 A T 9: 38,054,736 (GRCm39) M97L probably benign Het
Pde11a A T 2: 76,045,697 (GRCm39) F376I possibly damaging Het
Prima1 A T 12: 103,201,920 (GRCm39) C52S probably damaging Het
Pxn G A 5: 115,686,606 (GRCm39) R366H not run Het
Sgce T C 6: 4,691,564 (GRCm39) Y337C probably damaging Het
Slc25a10 T A 11: 120,386,286 (GRCm39) M130K probably benign Het
Slc29a2 A T 19: 5,074,290 (GRCm39) N5I probably benign Het
Slc35a1 A T 4: 34,673,875 (GRCm39) H150Q Het
Slc5a4a T A 10: 75,983,384 (GRCm39) V7D unknown Het
Stk17b T A 1: 53,805,159 (GRCm39) D134V probably damaging Het
Tex55 C T 16: 38,648,453 (GRCm39) D219N possibly damaging Het
Thbs3 T A 3: 89,124,014 (GRCm39) S36T probably benign Het
Thsd4 A G 9: 60,335,457 (GRCm39) S152P probably benign Het
Tmem67 G T 4: 12,063,698 (GRCm39) H422N probably benign Het
Tram1 C A 1: 13,659,868 (GRCm39) V27F probably damaging Het
Trim14 A G 4: 46,507,238 (GRCm39) V326A possibly 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
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
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'- ACCATATTCCCTGACTGTGGG -3'
(R):5'- TGCAAGAATGACTGCACAGG -3'

Sequencing Primer
(F):5'- AGTCAGCAGGGGCATCTG -3'
(R):5'- TGTACCTGGCATGGAGGACTC -3'
Posted On 2019-11-12