Incidental Mutation 'R6465:Krtap2-4'
ID 517787
Institutional Source Beutler Lab
Gene Symbol Krtap2-4
Ensembl Gene ENSMUSG00000060756
Gene Name keratin associated protein 2-4
Synonyms 5530401P19Rik, KRTAP2.4, KAP2.4
MMRRC Submission 044598-MU
Accession Numbers
Essential gene? Not available question?
Stock # R6465 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 99504845-99505672 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 99505585 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000075802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073853] [ENSMUST00000074926] [ENSMUST00000076478]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000073853
SMART Domains Protein: ENSMUSP00000073519
Gene: ENSMUSG00000062278

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 58 1.5e-4 PFAM
Pfam:Keratin_B2_2 58 106 1.6e-5 PFAM
Pfam:Keratin_B2_2 97 136 6.6e-4 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000074926
AA Change: F9L
SMART Domains Protein: ENSMUSP00000074461
Gene: ENSMUSG00000060756
AA Change: F9L

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 56 5.8e-4 PFAM
Pfam:Keratin_B2 1 72 2.6e-12 PFAM
Pfam:Keratin_B2_2 53 101 1.3e-5 PFAM
Pfam:Keratin_B2_2 92 131 6.1e-4 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000076478
SMART Domains Protein: ENSMUSP00000075802
Gene: ENSMUSG00000058725

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 56 5.8e-4 PFAM
Pfam:Keratin_B2 1 72 2.6e-12 PFAM
Pfam:Keratin_B2_2 53 101 1.3e-5 PFAM
Pfam:Keratin_B2_2 92 131 6.1e-4 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 95% (40/42)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 G A 6: 128,518,041 (GRCm39) T1415I probably damaging Het
Acvr2b T A 9: 119,262,369 (GRCm39) W461R probably damaging Het
Adam23 G T 1: 63,605,827 (GRCm39) C637F probably damaging Het
Apol8 T G 15: 77,634,148 (GRCm39) T143P probably benign Het
Bfsp1 A C 2: 143,699,975 (GRCm39) probably null Het
Cytl1 T C 5: 37,895,014 (GRCm39) V99A probably benign Het
Dock2 A T 11: 34,453,413 (GRCm39) V793E probably damaging Het
Fxyd5 G T 7: 30,737,305 (GRCm39) T81K probably damaging Het
Gcm1 A G 9: 77,972,151 (GRCm39) Y364C probably damaging Het
Get3 A T 8: 85,745,194 (GRCm39) M291K probably benign Het
Haghl T C 17: 26,002,793 (GRCm39) N190S possibly damaging Het
Inpp5j C A 11: 3,452,293 (GRCm39) R319L possibly damaging Het
Ints10 A G 8: 69,260,188 (GRCm39) N304S probably benign Het
Isoc1 T A 18: 58,804,328 (GRCm39) C119S probably damaging Het
Klhl18 A G 9: 110,257,988 (GRCm39) M414T probably benign Het
Krtap3-1 G A 11: 99,457,277 (GRCm39) P45S possibly damaging Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Myo7a A G 7: 97,711,887 (GRCm39) V1754A possibly damaging Het
Nedd4l T A 18: 65,288,335 (GRCm39) D119E probably benign Het
Nsun7 T C 5: 66,452,929 (GRCm39) V548A probably benign Het
Or5m12 A T 2: 85,734,883 (GRCm39) S172T probably benign Het
Or6b6 A T 7: 106,571,419 (GRCm39) V44E possibly damaging Het
Parvg A G 15: 84,213,141 (GRCm39) D127G probably damaging Het
Pate13 A T 9: 35,819,921 (GRCm39) N25Y possibly damaging Het
Piezo2 T A 18: 63,174,734 (GRCm39) M2007L possibly damaging Het
Pou2f3 A C 9: 43,051,162 (GRCm39) F175V probably damaging Het
Ptprn2 T C 12: 117,233,209 (GRCm39) I958T probably damaging Het
Pwwp2b T C 7: 138,835,951 (GRCm39) V464A probably benign Het
Pzp A G 6: 128,468,582 (GRCm39) Y982H probably damaging Het
Rad17 T A 13: 100,773,588 (GRCm39) N202I probably benign Het
Rtel1 T A 2: 180,977,733 (GRCm39) D271E possibly damaging Het
Sos2 T C 12: 69,643,549 (GRCm39) S943G probably benign Het
Tdpoz6 A G 3: 93,600,303 (GRCm39) I22T probably damaging Het
Tm9sf2 A G 14: 122,378,619 (GRCm39) H241R probably benign Het
Ttc8 A G 12: 98,930,829 (GRCm39) E291G probably damaging Het
Unc93a2 G T 17: 7,641,842 (GRCm39) T202K probably damaging Het
Wfikkn1 A G 17: 26,097,692 (GRCm39) C211R probably damaging Het
Ylpm1 T A 12: 85,096,576 (GRCm39) D1219E probably damaging Het
Zc3hav1 T C 6: 38,308,784 (GRCm39) Y586C possibly damaging Het
Zcchc4 T A 5: 52,976,618 (GRCm39) F471I probably benign Het
Zfp719 C A 7: 43,240,108 (GRCm39) Y565* probably null Het
Other mutations in Krtap2-4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1782:Krtap2-4 UTSW 11 99,505,353 (GRCm39) missense probably damaging 1.00
R1883:Krtap2-4 UTSW 11 99,505,505 (GRCm39) unclassified probably benign
R1884:Krtap2-4 UTSW 11 99,505,505 (GRCm39) unclassified probably benign
R2102:Krtap2-4 UTSW 11 99,505,606 (GRCm39) unclassified probably benign
R6937:Krtap2-4 UTSW 11 99,505,299 (GRCm39) unclassified probably benign
R7361:Krtap2-4 UTSW 11 99,505,420 (GRCm39) missense probably damaging 1.00
R8829:Krtap2-4 UTSW 11 99,505,246 (GRCm39) missense unknown
R8832:Krtap2-4 UTSW 11 99,505,246 (GRCm39) missense unknown
R9410:Krtap2-4 UTSW 11 99,505,437 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- AGACCACAGCTGTGCAAGAG -3'
(R):5'- AACTGAATCCAGGGCTCTCTTTTC -3'

Sequencing Primer
(F):5'- CTGTGCAAGAGGTGGGGC -3'
(R):5'- CAGGGCTCTCTTTTCATTGGGTAAC -3'
Posted On 2018-05-21