Incidental Mutation 'R4259:Krt72'
ID 322581
Institutional Source Beutler Lab
Gene Symbol Krt72
Ensembl Gene ENSMUSG00000056605
Gene Name keratin 72
Synonyms Krt72-ps, K6irs2
MMRRC Submission 041072-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R4259 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 101684607-101694895 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101686692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 418 (E418G)
Ref Sequence ENSEMBL: ENSMUSP00000065922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071104]
AlphaFold Q6IME9
Predicted Effect probably damaging
Transcript: ENSMUST00000071104
AA Change: E418G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000065922
Gene: ENSMUSG00000056605
AA Change: E418G

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 0.4748 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (40/41)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,214,066 (GRCm39) S298P probably damaging Het
4930407I10Rik A G 15: 81,947,927 (GRCm39) D608G possibly damaging Het
Actr10 T C 12: 70,999,759 (GRCm39) V185A probably benign Het
Cd248 A G 19: 5,118,866 (GRCm39) D238G probably damaging Het
Cep290 A C 10: 100,350,354 (GRCm39) E649D probably damaging Het
Cyp2b19 G A 7: 26,462,807 (GRCm39) G230S probably damaging Het
Dnah12 A G 14: 26,520,883 (GRCm39) I1901V probably benign Het
Garin1b C G 6: 29,320,800 (GRCm39) I141M probably damaging Het
Gpr171 A G 3: 59,004,948 (GRCm39) S276P probably damaging Het
Hap1 C A 11: 100,242,668 (GRCm39) probably null Het
Hcn1 A T 13: 118,111,884 (GRCm39) K616M unknown Het
Igkv4-90 T C 6: 68,784,461 (GRCm39) I18M possibly damaging Het
Itpr3 T A 17: 27,325,298 (GRCm39) V1297E probably damaging Het
Kmt2b T C 7: 30,280,506 (GRCm39) N1319D probably damaging Het
Lama1 T C 17: 68,059,413 (GRCm39) S599P possibly damaging Het
Llgl1 C T 11: 60,600,394 (GRCm39) P581L probably benign Het
Lrrk1 A T 7: 65,980,512 (GRCm39) Y223N probably damaging Het
Or5p57 T A 7: 107,665,100 (GRCm39) K272* probably null Het
Or8g50 A T 9: 39,648,999 (GRCm39) D296V probably damaging Het
Or8k30 A G 2: 86,339,343 (GRCm39) D180G probably damaging Het
Pde6c G A 19: 38,151,293 (GRCm39) G608S probably damaging Het
Pdgfrb A C 18: 61,210,703 (GRCm39) T737P probably benign Het
Pdk2 T C 11: 94,931,970 (GRCm39) D38G probably benign Het
Pgk2 T G 17: 40,518,274 (GRCm39) T385P probably benign Het
Prl3b1 T C 13: 27,427,889 (GRCm39) probably null Het
Sat1 T C X: 153,998,182 (GRCm39) probably benign Het
Sgo2b A T 8: 64,381,330 (GRCm39) F501I probably benign Het
Sgsm2 T A 11: 74,782,854 (GRCm39) H34L probably damaging Het
Slc26a1 T A 5: 108,820,496 (GRCm39) K250N probably damaging Het
Slc38a4 A G 15: 96,896,374 (GRCm39) Y498H probably damaging Het
Slc5a4b A G 10: 75,939,686 (GRCm39) L150P probably damaging Het
Tbc1d32 A G 10: 55,925,867 (GRCm39) S1093P probably damaging 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
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
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'- AAGCGCACTTGCCATATGATTTC -3'
(R):5'- TTTGTCAGCATCAGTGGAGGAG -3'

Sequencing Primer
(F):5'- GCCATATGATTTCACTTCAGTGGAGC -3'
(R):5'- GGCTGAGCAAGATTTCAGACCC -3'
Posted On 2015-06-20