Incidental Mutation 'R7153:Kcp'
ID 554249
Institutional Source Beutler Lab
Gene Symbol Kcp
Ensembl Gene ENSMUSG00000059022
Gene Name kielin/chordin-like protein
Synonyms Crim2, LOC333088, KCP
MMRRC Submission 045255-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R7153 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 29473161-29507951 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29499014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 320 (E320G)
Ref Sequence ENSEMBL: ENSMUSP00000099135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078112] [ENSMUST00000091391] [ENSMUST00000101614] [ENSMUST00000159479] [ENSMUST00000161237]
AlphaFold Q3U492
Predicted Effect probably damaging
Transcript: ENSMUST00000078112
AA Change: E320G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000077251
Gene: ENSMUSG00000059022
AA Change: E320G

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: E320G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000088954
Gene: ENSMUSG00000059022
AA Change: E320G

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: E320G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099135
Gene: ENSMUSG00000059022
AA Change: E320G

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
Predicted Effect probably benign
Transcript: ENSMUST00000161237
SMART Domains Protein: ENSMUSP00000124097
Gene: ENSMUSG00000059022

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (75/75)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano2 A G 6: 125,969,906 (GRCm39) T741A possibly damaging Het
Aox4 T C 1: 58,289,378 (GRCm39) M767T probably damaging Het
Arhgap39 C A 15: 76,649,691 (GRCm39) S27I probably benign Het
AU018091 T A 7: 3,209,353 (GRCm39) M296L probably benign Het
Axin1 A G 17: 26,406,942 (GRCm39) T512A probably benign Het
B4galnt3 A T 6: 120,191,929 (GRCm39) D602E probably benign Het
Bcl6 G A 16: 23,784,976 (GRCm39) R675* probably null Het
Bsnd A T 4: 106,349,230 (GRCm39) D3E probably benign Het
Btbd18 C T 2: 84,496,772 (GRCm39) R137* probably null Het
C2cd5 A G 6: 142,965,135 (GRCm39) S871P probably benign Het
Cobl G T 11: 12,204,128 (GRCm39) P858Q probably damaging Het
Col6a1 C T 10: 76,546,175 (GRCm39) probably null Het
Crb2 A T 2: 37,677,420 (GRCm39) H304L probably benign Het
Crybg1 T A 10: 43,840,662 (GRCm39) Y1812F possibly damaging Het
Ddx60 A T 8: 62,441,142 (GRCm39) K1070N possibly damaging Het
Defb22 T C 2: 152,327,840 (GRCm39) K115R unknown Het
Dhx8 C T 11: 101,631,001 (GRCm39) probably null Het
Dnah5 T A 15: 28,365,668 (GRCm39) probably null Het
Dnah7b T A 1: 46,165,964 (GRCm39) F543Y probably benign Het
Ehhadh A G 16: 21,585,071 (GRCm39) F270S probably damaging Het
Esyt2 A G 12: 116,310,128 (GRCm39) M397V probably benign Het
Fanca A T 8: 124,043,164 (GRCm39) L74H probably damaging Het
Fbxl17 C A 17: 63,367,346 (GRCm39) V676F probably benign Het
Fndc1 A G 17: 8,020,477 (GRCm39) V102A probably damaging Het
Gpalpp1 T C 14: 76,332,451 (GRCm39) Y273C probably damaging Het
Gpatch8 TTCCTCCTCCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC 11: 102,371,014 (GRCm39) probably benign Het
Grik2 T C 10: 49,411,463 (GRCm39) H225R probably benign Het
Helz2 A T 2: 180,873,078 (GRCm39) S2411T probably benign Het
Hnmt C T 2: 23,904,353 (GRCm39) A103T probably damaging Het
Ighv15-2 G T 12: 114,528,210 (GRCm39) Y114* probably null Het
Irak2 A G 6: 113,655,670 (GRCm39) H357R probably benign Het
Kpna4 A G 3: 68,997,131 (GRCm39) L352S probably damaging Het
Krt36 G A 11: 99,995,972 (GRCm39) Q151* probably null Het
Krt77 G A 15: 101,773,931 (GRCm39) T241M probably benign Het
Lca5l T A 16: 95,975,009 (GRCm39) N305I probably damaging Het
Lefty1 T A 1: 180,765,332 (GRCm39) L300Q probably benign Het
Mertk A G 2: 128,578,569 (GRCm39) Y185C probably damaging Het
Mmp14 T C 14: 54,673,708 (GRCm39) I124T possibly damaging Het
Nlrc4 T C 17: 74,754,098 (GRCm39) E95G possibly damaging Het
Npc1 A G 18: 12,346,348 (GRCm39) F283L possibly damaging Het
Or4k38 A T 2: 111,166,246 (GRCm39) M59K probably damaging Het
Or4p19 A C 2: 88,242,462 (GRCm39) L180W probably damaging Het
Pcdha11 T C 18: 37,144,278 (GRCm39) V123A probably damaging Het
Pcdhga2 T C 18: 37,802,261 (GRCm39) V35A probably damaging Het
Pgd G T 4: 149,246,135 (GRCm39) T94K probably benign Het
Pik3c2a T C 7: 115,941,487 (GRCm39) N1593S probably damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Plcb3 A G 19: 6,935,452 (GRCm39) probably null Het
Prkd3 C T 17: 79,273,784 (GRCm39) D491N probably benign Het
Ptprf T C 4: 118,088,740 (GRCm39) T688A probably damaging Het
Pycr2 T A 1: 180,734,247 (GRCm39) L210M probably damaging Het
Rpl36 T C 17: 56,921,137 (GRCm39) I81T probably benign Het
Rraga C T 4: 86,494,253 (GRCm39) A33V probably damaging Het
Slc29a1 G A 17: 45,896,688 (GRCm39) A429V probably damaging Het
Stab1 T G 14: 30,882,541 (GRCm39) E432A probably benign Het
Synj1 C T 16: 90,744,978 (GRCm39) G1189R probably benign Het
Synpo2 A G 3: 122,906,053 (GRCm39) *1088Q probably null Het
Tbc1d21 T C 9: 58,270,376 (GRCm39) D133G probably damaging Het
Tenm2 A G 11: 35,915,009 (GRCm39) V2176A probably damaging Het
Tff1 A G 17: 31,381,772 (GRCm39) I35T probably benign Het
Thnsl1 T C 2: 21,217,764 (GRCm39) V506A possibly damaging Het
Timm10b A G 7: 105,290,087 (GRCm39) Q50R unknown Het
Tjp2 A T 19: 24,079,345 (GRCm39) N843K probably benign Het
Tle1 A T 4: 72,057,298 (GRCm39) F101I probably benign Het
Tmem225 T C 9: 40,059,664 (GRCm39) F15L probably benign Het
Trav12-3 T C 14: 53,859,618 (GRCm39) L88P probably benign Het
Ttc7b A T 12: 100,321,293 (GRCm39) W613R probably damaging Het
Ttn T A 2: 76,608,848 (GRCm39) M17723L probably benign Het
Ttn T C 2: 76,775,660 (GRCm39) D1840G unknown Het
Tubgcp2 T C 7: 139,580,949 (GRCm39) H668R probably benign Het
Ush2a C A 1: 188,460,681 (GRCm39) N2647K possibly damaging Het
Vmn1r14 C T 6: 57,210,851 (GRCm39) S143F probably benign Het
Vmn2r70 A G 7: 85,214,262 (GRCm39) S297P probably damaging Het
Ywhab T C 2: 163,855,980 (GRCm39) F119L probably damaging Het
Zmym2 T A 14: 57,187,659 (GRCm39) D1108E 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
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
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'- GTGCAAGGCAATCAGAGCTC -3'
(R):5'- CTTTCTTGACTGAACTCTGGGG -3'

Sequencing Primer
(F):5'- TGCACGGTGAATGGTGACC -3'
(R):5'- TTACCAGGAGGGCCACATC -3'
Posted On 2019-05-15