Incidental Mutation 'R0669:Krt72'
ID 62160
Institutional Source Beutler Lab
Gene Symbol Krt72
Ensembl Gene ENSMUSG00000056605
Gene Name keratin 72
Synonyms Krt72-ps, K6irs2
MMRRC Submission 038854-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R0669 (G1)
Quality Score 205
Status Validated
Chromosome 15
Chromosomal Location 101684607-101694895 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101686740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 402 (E402G)
Ref Sequence ENSEMBL: ENSMUSP00000065922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071104]
AlphaFold Q6IME9
Predicted Effect probably damaging
Transcript: ENSMUST00000071104
AA Change: E402G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000065922
Gene: ENSMUSG00000056605
AA Change: E402G

DomainStartEndE-ValueType
Pfam:Keratin_2_head 59 130 3.1e-17 PFAM
Filament 133 446 6.9e-157 SMART
low complexity region 454 462 N/A INTRINSIC
low complexity region 465 481 N/A INTRINSIC
low complexity region 507 519 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127671
Meta Mutation Damage Score 0.5807 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.8%
Validation Efficiency 99% (80/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells. The type II keratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This gene encodes a type II keratin that is specifically expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q12-q13. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2009]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T A 11: 72,089,671 (GRCm39) H71L possibly damaging Het
Abcb11 C A 2: 69,159,662 (GRCm39) V10L probably benign Het
Abcb9 T C 5: 124,200,950 (GRCm39) T689A probably damaging Het
Adam22 A G 5: 8,193,036 (GRCm39) probably benign Het
Adamts5 A G 16: 85,696,614 (GRCm39) I181T probably benign Het
Adamts9 A T 6: 92,857,938 (GRCm39) V231D probably damaging Het
Angptl6 C T 9: 20,787,823 (GRCm39) V197M probably damaging Het
Atp6v1c1 T C 15: 38,677,772 (GRCm39) V99A probably benign Het
Cacna2d3 A G 14: 29,189,906 (GRCm39) V110A probably benign Het
Ccdc32 A G 2: 118,849,648 (GRCm39) probably benign Het
Cela3b T C 4: 137,155,841 (GRCm39) H22R probably benign Het
Cep44 T C 8: 56,994,008 (GRCm39) T190A possibly damaging Het
Chsy1 T C 7: 65,821,435 (GRCm39) C557R probably damaging Het
Cntd1 A G 11: 101,178,324 (GRCm39) T308A probably damaging Het
Cutal T C 2: 34,775,878 (GRCm39) probably benign Het
Dipk1b A G 2: 26,524,878 (GRCm39) T93A probably benign Het
Dna2 A G 10: 62,792,768 (GRCm39) D261G probably damaging Het
Dnhd1 T A 7: 105,342,911 (GRCm39) S1418R probably benign Het
Dnpep A G 1: 75,288,422 (GRCm39) probably benign Het
Dock7 A T 4: 98,875,716 (GRCm39) Y1075N probably benign Het
Eif2s1 C T 12: 78,928,012 (GRCm39) probably benign Het
Ess2 T C 16: 17,725,419 (GRCm39) Y221C probably damaging Het
Fer1l6 T C 15: 58,425,573 (GRCm39) probably null Het
Gm5592 T C 7: 40,805,254 (GRCm39) probably benign Het
Ipp A G 4: 116,395,073 (GRCm39) Y536C probably damaging Het
Lamb3 T C 1: 193,014,638 (GRCm39) L599P probably damaging Het
Lingo2 T A 4: 35,709,120 (GRCm39) T287S probably benign Het
Lipo3 T A 19: 33,537,025 (GRCm39) T232S probably benign Het
Lrrc63 G A 14: 75,363,550 (GRCm39) H194Y probably benign Het
Map3k13 A G 16: 21,725,274 (GRCm39) T416A probably benign Het
Mcm3 A T 1: 20,875,153 (GRCm39) probably null Het
Mms22l T C 4: 24,517,223 (GRCm39) V258A probably benign Het
Mrpl46 A T 7: 78,432,631 (GRCm39) L49* probably null Het
Mrs2 T C 13: 25,177,742 (GRCm39) T369A possibly damaging Het
Mtrf1 T A 14: 79,656,708 (GRCm39) Y403* probably null Het
Muc20 G A 16: 32,614,850 (GRCm39) P176S unknown Het
Mup21 C T 4: 62,068,964 (GRCm39) C9Y unknown Het
Mup-ps21 A T 4: 61,949,007 (GRCm39) noncoding transcript Het
Mybph T G 1: 134,125,081 (GRCm39) probably null Het
Mypn A G 10: 62,970,702 (GRCm39) probably benign Het
Nav2 T C 7: 49,058,431 (GRCm39) S124P probably damaging Het
Nrros T C 16: 31,962,241 (GRCm39) D556G probably damaging Het
Numa1 A C 7: 101,648,884 (GRCm39) I872L probably benign Het
Or14c40 A G 7: 86,313,544 (GRCm39) I225V possibly damaging Het
Or2a7 C T 6: 43,150,938 (GRCm39) T6I probably benign Het
Or2h2c G C 17: 37,422,347 (GRCm39) L176V probably benign Het
Or4c11 A T 2: 88,695,272 (GRCm39) M108L probably benign Het
Or5p52 T A 7: 107,502,446 (GRCm39) I174K probably damaging Het
Pcdhb9 A T 18: 37,535,308 (GRCm39) N434I probably damaging Het
Pigq A T 17: 26,155,736 (GRCm39) probably null Het
Plxna2 T G 1: 194,471,145 (GRCm39) V972G probably damaging Het
Psma3 G A 12: 71,035,269 (GRCm39) probably benign Het
Ptpn13 A G 5: 103,703,975 (GRCm39) T1336A probably benign Het
Rdh7 T C 10: 127,720,598 (GRCm39) D258G probably benign Het
Serpinb6c A G 13: 34,083,252 (GRCm39) I54T probably damaging Het
Sh2d7 A T 9: 54,448,633 (GRCm39) Y218F probably benign Het
Shfl AGAGGAGGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGAGGAGGA 9: 20,785,013 (GRCm39) probably benign Het
Slc12a8 A T 16: 33,371,274 (GRCm39) I137F possibly damaging Het
Smarca2 T C 19: 26,683,600 (GRCm39) V1153A possibly damaging Het
Smc6 A T 12: 11,339,165 (GRCm39) I334L probably benign Het
Sorcs1 A G 19: 50,230,380 (GRCm39) probably benign Het
Taar8c A G 10: 23,977,401 (GRCm39) L137P probably damaging Het
Tcam1 A T 11: 106,176,252 (GRCm39) D326V possibly damaging Het
Telo2 A T 17: 25,324,797 (GRCm39) V461D probably benign Het
Tmprss7 A T 16: 45,498,325 (GRCm39) C351* probably null Het
Trim66 T A 7: 109,054,199 (GRCm39) probably benign Het
Ube2d1 G T 10: 71,097,940 (GRCm39) H32N probably benign Het
Ubp1 T C 9: 113,793,736 (GRCm39) probably benign Het
Vma21 C T X: 70,863,763 (GRCm39) T81M probably damaging Het
Vmn1r113 T C 7: 20,521,345 (GRCm39) S46P probably benign Het
Wars1 T C 12: 108,831,944 (GRCm39) S374G probably benign Het
Wbp1 T C 6: 83,096,326 (GRCm39) D277G possibly damaging Het
Zfp939 C A 7: 39,123,209 (GRCm39) noncoding transcript Het
Other mutations in Krt72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Krt72 APN 15 101,693,434 (GRCm39) missense probably damaging 0.99
IGL00568:Krt72 APN 15 101,689,450 (GRCm39) missense probably damaging 1.00
IGL00966:Krt72 APN 15 101,689,396 (GRCm39) missense probably damaging 1.00
IGL01997:Krt72 APN 15 101,693,315 (GRCm39) missense probably damaging 0.99
IGL02858:Krt72 APN 15 101,690,556 (GRCm39) missense probably damaging 1.00
IGL03260:Krt72 APN 15 101,686,708 (GRCm39) missense probably damaging 1.00
R0062:Krt72 UTSW 15 101,694,443 (GRCm39) missense probably damaging 0.98
R0062:Krt72 UTSW 15 101,694,443 (GRCm39) missense probably damaging 0.98
R0601:Krt72 UTSW 15 101,694,491 (GRCm39) missense probably damaging 1.00
R1396:Krt72 UTSW 15 101,694,440 (GRCm39) critical splice donor site probably null
R1501:Krt72 UTSW 15 101,686,769 (GRCm39) missense probably damaging 1.00
R1598:Krt72 UTSW 15 101,688,688 (GRCm39) missense probably benign 0.00
R1779:Krt72 UTSW 15 101,689,364 (GRCm39) missense probably benign
R1796:Krt72 UTSW 15 101,689,987 (GRCm39) splice site probably null
R4259:Krt72 UTSW 15 101,686,692 (GRCm39) missense probably damaging 0.99
R4835:Krt72 UTSW 15 101,689,508 (GRCm39) splice site probably null
R4871:Krt72 UTSW 15 101,694,469 (GRCm39) missense probably damaging 1.00
R6246:Krt72 UTSW 15 101,689,372 (GRCm39) missense probably damaging 1.00
R6513:Krt72 UTSW 15 101,685,187 (GRCm39) critical splice acceptor site probably null
R6520:Krt72 UTSW 15 101,689,481 (GRCm39) missense probably benign 0.01
R8294:Krt72 UTSW 15 101,694,472 (GRCm39) missense probably damaging 1.00
R8324:Krt72 UTSW 15 101,690,580 (GRCm39) missense probably damaging 1.00
R8476:Krt72 UTSW 15 101,686,701 (GRCm39) missense probably damaging 0.97
R8982:Krt72 UTSW 15 101,690,059 (GRCm39) missense possibly damaging 0.81
R9054:Krt72 UTSW 15 101,694,836 (GRCm39) missense probably damaging 0.99
R9679:Krt72 UTSW 15 101,685,152 (GRCm39) missense probably damaging 1.00
Z1177:Krt72 UTSW 15 101,686,743 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAGCCAAACTGTCTTCCACCTTCC -3'
(R):5'- CAGTTCTGTCCAACCTGGACCATC -3'

Sequencing Primer
(F):5'- TTCCTGTTAAAGCAAACACCG -3'
(R):5'- TGGACCATCCAGTAGATCCTG -3'
Posted On 2013-07-30