Incidental Mutation 'R0062:Krt72'
ID 16349
Institutional Source Beutler Lab
Gene Symbol Krt72
Ensembl Gene ENSMUSG00000056605
Gene Name keratin 72
Synonyms Krt72-ps, K6irs2
MMRRC Submission 038354-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R0062 (G1)
Quality Score
Status Validated
Chromosome 15
Chromosomal Location 101684607-101694895 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101694443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 151 (K151E)
Ref Sequence ENSEMBL: ENSMUSP00000065922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071104]
AlphaFold Q6IME9
Predicted Effect probably damaging
Transcript: ENSMUST00000071104
AA Change: K151E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000065922
Gene: ENSMUSG00000056605
AA Change: K151E

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
Meta Mutation Damage Score 0.8418 question?
Coding Region Coverage
  • 1x: 90.3%
  • 3x: 88.1%
  • 10x: 83.4%
  • 20x: 77.5%
Validation Efficiency 91% (72/79)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513I03Rik G T 10: 120,614,511 (GRCm39) probably benign Het
Abi2 T A 1: 60,492,884 (GRCm39) N182K probably benign Het
Adam25 A T 8: 41,207,829 (GRCm39) H365L probably damaging Het
Ankfy1 T A 11: 72,603,030 (GRCm39) Y20N probably damaging Het
Arhgef28 A T 13: 98,093,150 (GRCm39) I977N possibly damaging Het
Cacna1b A G 2: 24,648,343 (GRCm39) Y161H probably damaging Het
Cacna1c T C 6: 118,579,198 (GRCm39) D1480G probably damaging Het
Chl1 A T 6: 103,726,613 (GRCm39) Y1143F unknown Het
Clk3 A G 9: 57,659,449 (GRCm39) M533T probably damaging Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Cnbd1 A G 4: 18,860,504 (GRCm39) I414T possibly damaging Het
Commd3 A T 2: 18,679,514 (GRCm39) probably null Het
Dnah8 T A 17: 30,984,685 (GRCm39) F3128I probably damaging Het
Dock1 A G 7: 134,379,224 (GRCm39) probably null Het
Dpysl3 C T 18: 43,466,941 (GRCm39) probably null Het
Ebf2 T A 14: 67,475,989 (GRCm39) probably benign Het
F830045P16Rik T C 2: 129,305,624 (GRCm39) E250G possibly damaging Het
Fmn2 A T 1: 174,436,015 (GRCm39) probably benign Het
Fryl T C 5: 73,179,621 (GRCm39) I2929V probably benign Het
Gm11232 T A 4: 71,675,112 (GRCm39) Q130L possibly damaging Het
Gna15 A G 10: 81,348,239 (GRCm39) probably null Het
Gtf3c5 T C 2: 28,462,198 (GRCm39) probably benign Het
Irs2 G A 8: 11,055,723 (GRCm39) T903I possibly damaging Het
Itga2 G A 13: 115,007,032 (GRCm39) S432L possibly damaging Het
Izumo1 A G 7: 45,276,621 (GRCm39) T395A probably benign Het
Kcnd2 G A 6: 21,727,225 (GRCm39) V593M possibly damaging Het
Kprp T C 3: 92,731,989 (GRCm39) S354G probably damaging Het
Letm2 A T 8: 26,077,464 (GRCm39) probably benign Het
Lipe A G 7: 25,097,874 (GRCm39) V23A possibly damaging Het
Mcc C G 18: 44,652,583 (GRCm39) probably benign Het
Mthfd1 G A 12: 76,344,363 (GRCm39) probably benign Het
Nbeal1 C A 1: 60,286,876 (GRCm39) N899K probably benign Het
Odad2 T A 18: 7,129,593 (GRCm39) probably benign Het
Or10ak14 T C 4: 118,611,100 (GRCm39) I212V probably benign Het
Or4c118 T C 2: 88,974,966 (GRCm39) I134V possibly damaging Het
Pcdha1 T A 18: 37,139,681 (GRCm39) W437R probably benign Het
Pcdhga11 T G 18: 37,941,528 (GRCm39) I643S probably benign Het
Pik3r6 T A 11: 68,419,635 (GRCm39) Y149N probably damaging Het
Pja2 C A 17: 64,615,966 (GRCm39) V310L probably damaging Het
Ripor3 A G 2: 167,826,358 (GRCm39) probably benign Het
Rpa2 C A 4: 132,505,125 (GRCm39) N251K probably damaging Het
Rttn T C 18: 89,029,090 (GRCm39) probably null Het
Ryr2 C T 13: 11,884,002 (GRCm39) probably null Het
Scara3 T C 14: 66,168,417 (GRCm39) N400S probably damaging Het
Slc8b1 T A 5: 120,659,928 (GRCm39) probably null Het
Slco1a4 G A 6: 141,765,205 (GRCm39) Q346* probably null Het
Stk32b A G 5: 37,618,792 (GRCm39) S229P probably damaging Het
Syde2 A G 3: 145,704,508 (GRCm39) R487G probably benign Het
Tbc1d2b T C 9: 90,104,355 (GRCm39) probably benign Het
Ticrr T C 7: 79,317,654 (GRCm39) V396A probably benign Het
Trrap T C 5: 144,719,003 (GRCm39) probably benign Het
Vps13a A T 19: 16,646,054 (GRCm39) H1994Q probably damaging Het
Wdr36 T G 18: 32,997,802 (GRCm39) V820G possibly damaging Het
Wdr83 G A 8: 85,806,456 (GRCm39) T114I possibly damaging Het
Zfc3h1 A G 10: 115,252,658 (GRCm39) K1324E probably benign 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
R0601:Krt72 UTSW 15 101,694,491 (GRCm39) missense probably damaging 1.00
R0669:Krt72 UTSW 15 101,686,740 (GRCm39) missense probably damaging 0.99
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
Posted On 2013-01-20