Incidental Mutation 'R1808:Kcp'
ID 203592
Institutional Source Beutler Lab
Gene Symbol Kcp
Ensembl Gene ENSMUSG00000059022
Gene Name kielin/chordin-like protein
Synonyms Crim2, LOC333088, KCP
MMRRC Submission 039837-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R1808 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 29473161-29507951 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29505654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 73 (T73A)
Ref Sequence ENSEMBL: ENSMUSP00000124097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078112] [ENSMUST00000091391] [ENSMUST00000101614] [ENSMUST00000161237]
AlphaFold Q3U492
Predicted Effect probably benign
Transcript: ENSMUST00000078112
AA Change: T73A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000077251
Gene: ENSMUSG00000059022
AA Change: T73A

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: T73A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000088954
Gene: ENSMUSG00000059022
AA Change: T73A

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: T73A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000099135
Gene: ENSMUSG00000059022
AA Change: T73A

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: ENSMUST00000160181
SMART Domains Protein: ENSMUSP00000125699
Gene: ENSMUSG00000059022

DomainStartEndE-ValueType
VWC 18 74 1.24e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161237
AA Change: T73A

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000124097
Gene: ENSMUSG00000059022
AA Change: T73A

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: ENSMUST00000181540
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.1%
  • 20x: 91.9%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik G T 5: 146,121,691 (GRCm39) Y69* probably null Het
2310011J03Rik A G 10: 80,156,015 (GRCm39) probably null Het
A2ml1 A C 6: 128,520,262 (GRCm39) D1367E probably damaging Het
Adam6a C G 12: 113,508,334 (GRCm39) L236V probably benign Het
Arf3 T C 15: 98,638,954 (GRCm39) N101S probably benign Het
Arhgap42 T C 9: 9,180,051 (GRCm39) E76G probably damaging Het
Atp2a1 A G 7: 126,052,573 (GRCm39) F382S probably damaging Het
Bud13 T A 9: 46,199,705 (GRCm39) F355L probably benign Het
C2 G A 17: 35,083,508 (GRCm39) P349S probably damaging Het
Cbl C A 9: 44,075,526 (GRCm39) G373V probably damaging Het
Ccdc3 T A 2: 5,142,896 (GRCm39) L51Q probably damaging Het
Ccdc34 T A 2: 109,874,601 (GRCm39) M320K probably benign Het
Cntln A G 4: 85,015,000 (GRCm39) E1097G probably damaging Het
Ctsc A C 7: 87,948,750 (GRCm39) K195Q possibly damaging Het
Ctsf C T 19: 4,906,562 (GRCm39) P163L probably benign Het
Dcxr A T 11: 120,616,438 (GRCm39) probably null Het
Dgki T C 6: 37,126,509 (GRCm39) E157G possibly damaging Het
Dnah8 T C 17: 30,903,160 (GRCm39) L933P probably damaging Het
Dtna T C 18: 23,702,697 (GRCm39) L76P probably damaging Het
Fcgbp T A 7: 27,784,515 (GRCm39) C192S probably benign Het
Galnt5 T A 2: 57,916,137 (GRCm39) D683E probably benign Het
Greb1l G A 18: 10,542,143 (GRCm39) A1297T probably benign Het
Grik4 T C 9: 42,540,322 (GRCm39) N286S probably benign Het
Hrc A T 7: 44,986,202 (GRCm39) E451V probably damaging Het
Hrh3 G A 2: 179,741,577 (GRCm39) probably benign Het
Ints13 A G 6: 146,455,695 (GRCm39) I152T probably damaging Het
Irgm1 A T 11: 48,757,259 (GRCm39) V184D probably damaging Het
Itga5 C T 15: 103,258,826 (GRCm39) A791T probably damaging Het
Kidins220 A G 12: 25,053,008 (GRCm39) T433A probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Kmt2d T C 15: 98,764,567 (GRCm39) D12G probably damaging Het
Mms19 A G 19: 41,954,698 (GRCm39) S74P probably damaging Het
Myh1 G T 11: 67,102,300 (GRCm39) E864* probably null Het
Nek1 A G 8: 61,469,264 (GRCm39) D107G probably damaging Het
Npc1 T C 18: 12,327,149 (GRCm39) N1149D probably damaging Het
Or14j6 T A 17: 38,214,661 (GRCm39) S75T probably damaging Het
Or3a1b C A 11: 74,012,257 (GRCm39) S47R probably damaging Het
Or4k36 T C 2: 111,146,343 (GRCm39) V173A probably benign Het
Or5p79 A C 7: 108,221,817 (GRCm39) K266T possibly damaging Het
Osbp T C 19: 11,948,142 (GRCm39) S150P probably damaging Het
Paf1 T C 7: 28,096,247 (GRCm39) Y287H probably damaging Het
Pdgfrb T C 18: 61,201,174 (GRCm39) V420A probably benign Het
Pdss1 G T 2: 22,796,846 (GRCm39) E120* probably null Het
Pink1 A T 4: 138,044,630 (GRCm39) V339E probably damaging Het
Pkn3 C T 2: 29,969,663 (GRCm39) R58C probably damaging Het
Pm20d1 G A 1: 131,730,165 (GRCm39) V235I probably benign Het
Ppp2r2a A G 14: 67,276,412 (GRCm39) I31T probably damaging Het
Rbms3 T C 9: 116,651,894 (GRCm39) E152G probably damaging Het
Rfx1 A C 8: 84,821,677 (GRCm39) Q804H probably damaging Het
Rpe G T 1: 66,754,356 (GRCm39) V143L probably benign Het
Sap30l G T 11: 57,700,771 (GRCm39) V142L probably benign Het
Sh3tc1 T C 5: 35,863,268 (GRCm39) Q973R probably benign Het
Slc10a2 T C 8: 5,154,856 (GRCm39) T110A probably damaging Het
Snrnp200 A T 2: 127,060,947 (GRCm39) probably null Het
Snrnp200 G A 2: 127,060,948 (GRCm39) probably null Het
Spaca3 T A 11: 80,758,511 (GRCm39) V158E probably damaging Het
Sprtn C A 8: 125,629,770 (GRCm39) N354K probably benign Het
Stab1 T A 14: 30,863,101 (GRCm39) Y2166F possibly damaging Het
Tmem106c G A 15: 97,866,548 (GRCm39) probably null Het
Tnc A G 4: 63,918,168 (GRCm39) S1248P probably damaging Het
Tshr T C 12: 91,504,090 (GRCm39) F343L probably benign Het
Ttn C A 2: 76,555,698 (GRCm39) A30436S probably damaging Het
Ubxn2a A T 12: 4,935,839 (GRCm39) M68K probably benign Het
Ucp2 T C 7: 100,148,021 (GRCm39) V238A probably damaging Het
Urgcp C A 11: 5,667,242 (GRCm39) L365F probably damaging Het
Vezt A T 10: 93,826,026 (GRCm39) D328E probably damaging Het
Vmn1r168 G T 7: 23,240,184 (GRCm39) V14L probably benign Het
Vps13b T C 15: 35,792,205 (GRCm39) F2158L 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
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'- AGACTAAGAACCTCTCTGTGTTTTC -3'
(R):5'- TCTGTCTACAGGCCAAGCTG -3'

Sequencing Primer
(F):5'- GCGGCTAGTAACAGTCTGTAACTC -3'
(R):5'- TCTACAGGCCAAGCTGGGTTC -3'
Posted On 2014-06-23