Incidental Mutation 'R0560:Krtcap2'
ID 45821
Institutional Source Beutler Lab
Gene Symbol Krtcap2
Ensembl Gene ENSMUSG00000042747
Gene Name keratinocyte associated protein 2
Synonyms 0610010I12Rik
MMRRC Submission 038752-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.260) question?
Stock # R0560 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 89153201-89157036 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 89156449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130372 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040888] [ENSMUST00000041022] [ENSMUST00000090924] [ENSMUST00000107464] [ENSMUST00000125952] [ENSMUST00000168900] [ENSMUST00000143637]
AlphaFold Q5RL79
Predicted Effect probably null
Transcript: ENSMUST00000040888
SMART Domains Protein: ENSMUSP00000043540
Gene: ENSMUSG00000042747

DomainStartEndE-ValueType
Pfam:Keratin_assoc 87 215 2.5e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000041022
SMART Domains Protein: ENSMUSP00000036053
Gene: ENSMUSG00000042766

DomainStartEndE-ValueType
RING 33 133 1.92e-6 SMART
BBOX 222 263 9.59e-7 SMART
Blast:BBC 271 395 3e-13 BLAST
FN3 430 515 2.03e-2 SMART
low complexity region 561 571 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000090924
SMART Domains Protein: ENSMUSP00000088442
Gene: ENSMUSG00000042766

DomainStartEndE-ValueType
RING 20 120 1.92e-6 SMART
BBOX 209 250 9.59e-7 SMART
Blast:BBC 258 382 8e-13 BLAST
FN3 417 502 2.03e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107464
SMART Domains Protein: ENSMUSP00000103088
Gene: ENSMUSG00000042766

DomainStartEndE-ValueType
RING 10 110 1.92e-6 SMART
BBOX 199 240 9.59e-7 SMART
Blast:BBC 248 372 2e-13 BLAST
FN3 407 492 2.03e-2 SMART
low complexity region 538 548 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125952
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126691
Predicted Effect probably null
Transcript: ENSMUST00000168900
SMART Domains Protein: ENSMUSP00000130372
Gene: ENSMUSG00000042747

DomainStartEndE-ValueType
Pfam:Keratin_assoc 1 134 1.2e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132818
Predicted Effect probably benign
Transcript: ENSMUST00000143637
SMART Domains Protein: ENSMUSP00000119270
Gene: ENSMUSG00000042766

DomainStartEndE-ValueType
RING 33 133 1.92e-6 SMART
BBOX 222 263 9.59e-7 SMART
Blast:BBC 270 391 4e-11 BLAST
Meta Mutation Damage Score 0.9582 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (26/26)
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apob T C 12: 8,055,101 (GRCm39) Y1334H probably damaging Het
Arsb A G 13: 93,926,706 (GRCm39) T159A possibly damaging Het
Asb18 A C 1: 89,942,250 (GRCm39) V17G probably damaging Het
Bicd1 A G 6: 149,413,460 (GRCm39) K284E probably benign Het
Bspry A G 4: 62,404,686 (GRCm39) R161G probably damaging Het
Ccdc138 A G 10: 58,411,539 (GRCm39) T636A probably damaging Het
Cubn A T 2: 13,433,491 (GRCm39) W1140R probably damaging Het
Cyp2t4 A G 7: 26,857,936 (GRCm39) T479A probably damaging Het
Dele1 T A 18: 38,387,551 (GRCm39) L230Q probably damaging Het
Dtx3l A G 16: 35,753,305 (GRCm39) S434P probably damaging Het
Duox2 A G 2: 122,122,035 (GRCm39) V611A probably benign Het
Epb41l3 T G 17: 69,581,892 (GRCm39) probably null Het
Fam161b C T 12: 84,404,492 (GRCm39) D63N probably damaging Het
Gm5422 G A 10: 31,125,240 (GRCm39) noncoding transcript Het
Gpr158 A T 2: 21,830,085 (GRCm39) D710V probably damaging Het
Mtrf1 T A 14: 79,644,290 (GRCm39) D199E probably damaging Het
Myorg G A 4: 41,498,167 (GRCm39) R488W probably damaging Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Ncf2 T A 1: 152,697,273 (GRCm39) Y47N probably damaging Het
Ovgp1 T C 3: 105,893,726 (GRCm39) probably benign Het
Siglec1 G T 2: 130,912,266 (GRCm39) T1692N probably benign Het
Slc10a2 T C 8: 5,139,092 (GRCm39) N284S probably benign Het
Slfn3 T C 11: 83,103,978 (GRCm39) F283S probably damaging Het
Trank1 T C 9: 111,220,154 (GRCm39) F2297S possibly damaging Het
Vmn2r69 A G 7: 85,058,922 (GRCm39) probably null Het
Vps13d T C 4: 144,780,760 (GRCm39) E3957G probably damaging Het
Other mutations in Krtcap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1930:Krtcap2 UTSW 3 89,154,383 (GRCm39) missense probably damaging 1.00
R4504:Krtcap2 UTSW 3 89,153,563 (GRCm39) unclassified probably benign
R4505:Krtcap2 UTSW 3 89,153,563 (GRCm39) unclassified probably benign
R4506:Krtcap2 UTSW 3 89,153,563 (GRCm39) unclassified probably benign
R4507:Krtcap2 UTSW 3 89,153,563 (GRCm39) unclassified probably benign
R5109:Krtcap2 UTSW 3 89,154,085 (GRCm39) missense probably benign
R5392:Krtcap2 UTSW 3 89,154,186 (GRCm39) missense probably benign 0.01
R6363:Krtcap2 UTSW 3 89,156,413 (GRCm39) missense probably damaging 1.00
R9393:Krtcap2 UTSW 3 89,153,578 (GRCm39) unclassified probably benign
R9559:Krtcap2 UTSW 3 89,154,178 (GRCm39) missense probably damaging 0.97
R9601:Krtcap2 UTSW 3 89,156,449 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ACGTTTTCAAGCAGGTTCCTCACAG -3'
(R):5'- TGTTGCTACTAGGGCAGACACCAG -3'

Sequencing Primer
(F):5'- GGTTCCTCACAGGGTTCTAGAC -3'
(R):5'- tggggagatggctcagg -3'
Posted On 2013-06-11