Incidental Mutation 'R0737:Krt81'
ID 70539
Institutional Source Beutler Lab
Gene Symbol Krt81
Ensembl Gene ENSMUSG00000067615
Gene Name keratin 81
Synonyms Krt2-19
MMRRC Submission 038918-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R0737 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 101356942-101361632 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 101361508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 24 (R24L)
Ref Sequence ENSEMBL: ENSMUSP00000056525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061185]
AlphaFold Q9ERE2
Predicted Effect possibly damaging
Transcript: ENSMUST00000061185
AA Change: R24L

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000056525
Gene: ENSMUSG00000067615
AA Change: R24L

DomainStartEndE-ValueType
Pfam:Keratin_2_head 2 102 5.6e-15 PFAM
Filament 105 416 6.92e-148 SMART
low complexity region 424 438 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230541
Meta Mutation Damage Score 0.1063 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB3 and KRTHB6, is found primarily in the hair cortex. Mutations in this gene and KRTHB6 have been observed in patients with a rare dominant hair disease, monilethrix. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik T A X: 69,437,813 (GRCm39) probably benign Het
Aff4 T A 11: 53,301,780 (GRCm39) L1043* probably null Het
Ankrd11 G T 8: 123,622,575 (GRCm39) R426S probably damaging Het
Atm T A 9: 53,367,866 (GRCm39) N2422I probably damaging Het
Bahcc1 C A 11: 120,163,667 (GRCm39) P655Q probably damaging Het
Baz2a A G 10: 127,951,949 (GRCm39) I556V possibly damaging Het
Ccdc33 T C 9: 57,989,331 (GRCm39) D114G probably damaging Het
Cdk5rap2 T C 4: 70,255,612 (GRCm39) H424R probably benign Het
Cfap57 T C 4: 118,438,299 (GRCm39) E864G possibly damaging Het
Cit T A 5: 116,084,978 (GRCm39) S836R probably damaging Het
Clip4 C T 17: 72,144,694 (GRCm39) Q95* probably null Het
Col17a1 C T 19: 47,657,872 (GRCm39) G433S possibly damaging Het
Col6a3 A G 1: 90,756,020 (GRCm39) F90L probably damaging Het
Cybc1 C T 11: 121,118,068 (GRCm39) probably null Het
Degs1l G A 1: 180,882,944 (GRCm39) M235I probably benign Het
Dnah9 T C 11: 65,998,724 (GRCm39) H1108R probably damaging Het
Elac1 A T 18: 73,872,110 (GRCm39) M295K probably damaging Het
Epas1 G T 17: 87,136,884 (GRCm39) G816C possibly damaging Het
Ermap C A 4: 119,035,707 (GRCm39) C427F probably damaging Het
Fbxo44 T C 4: 148,243,266 (GRCm39) probably benign Het
Fmo4 T A 1: 162,635,961 (GRCm39) K14* probably null Het
Gadl1 G A 9: 115,903,055 (GRCm39) M461I probably damaging Het
Garnl3 T A 2: 32,880,654 (GRCm39) I868F probably damaging Het
Gm7168 A G 17: 14,169,245 (GRCm39) D204G probably damaging Het
Hs6st3 T C 14: 120,106,795 (GRCm39) F401S possibly damaging Het
Kcnmb1 A T 11: 33,914,701 (GRCm39) M1L probably benign Het
Krt35 T C 11: 99,984,620 (GRCm39) T292A probably benign Het
Lamb2 T A 9: 108,360,993 (GRCm39) W572R probably benign Het
Letmd1 A G 15: 100,367,702 (GRCm39) T87A probably damaging Het
Lrp2 A G 2: 69,278,513 (GRCm39) Y3947H probably damaging Het
Mocos T C 18: 24,822,044 (GRCm39) F685L probably damaging Het
Nsun6 A T 2: 15,001,285 (GRCm39) F424I probably damaging Het
Nup88 A G 11: 70,860,776 (GRCm39) M1T probably null Het
Or13p5 C T 4: 118,592,421 (GRCm39) R232C probably benign Het
Or14c45 C T 7: 86,176,195 (GRCm39) P77S probably damaging Het
Or4c29 T C 2: 88,740,617 (GRCm39) N40S probably damaging Het
Pcdhb12 T A 18: 37,570,762 (GRCm39) V636D probably damaging Het
Pclo C A 5: 14,565,453 (GRCm39) A73E probably damaging Het
Pdlim7 A T 13: 55,652,693 (GRCm39) probably null Het
Phldb1 G A 9: 44,610,933 (GRCm39) P67S possibly damaging Het
Ppp2r2b T C 18: 43,192,257 (GRCm39) T17A probably benign Het
Ppp4r3c2 A G X: 88,797,926 (GRCm39) H586R probably benign Het
Rab11fip4 T C 11: 79,574,328 (GRCm39) V241A probably benign Het
Slc41a1 T C 1: 131,768,690 (GRCm39) L216P probably damaging Het
Slco1a8 G T 6: 141,949,154 (GRCm39) A74E possibly damaging Het
Smg6 T A 11: 75,050,662 (GRCm39) D1352E probably damaging Het
Tbc1d9 A T 8: 83,985,942 (GRCm39) I816F probably damaging Het
Tex264 T C 9: 106,536,498 (GRCm39) T220A probably benign Het
Tmco6 G A 18: 36,874,829 (GRCm39) V439I probably damaging Het
Tmem64 A G 4: 15,266,717 (GRCm39) I256V probably damaging Het
Tnks1bp1 A G 2: 84,882,880 (GRCm39) S236G possibly damaging Het
Tsc1 A G 2: 28,560,942 (GRCm39) T267A possibly damaging Het
Txndc2 A G 17: 65,946,548 (GRCm39) probably null Het
Vmn2r94 G A 17: 18,497,695 (GRCm39) Q26* probably null Het
Zan T C 5: 137,387,511 (GRCm39) D4900G unknown Het
Zkscan3 T C 13: 21,572,766 (GRCm39) T122A probably benign Het
Other mutations in Krt81
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Krt81 APN 15 101,358,159 (GRCm39) missense probably benign 0.01
IGL01012:Krt81 APN 15 101,358,900 (GRCm39) missense probably benign 0.05
IGL01287:Krt81 APN 15 101,361,269 (GRCm39) missense probably benign 0.00
IGL01304:Krt81 APN 15 101,361,269 (GRCm39) missense probably benign 0.00
IGL01319:Krt81 APN 15 101,361,269 (GRCm39) missense probably benign 0.00
IGL01403:Krt81 APN 15 101,361,269 (GRCm39) missense probably benign 0.00
PIT4508001:Krt81 UTSW 15 101,360,606 (GRCm39) missense probably damaging 1.00
R0083:Krt81 UTSW 15 101,361,346 (GRCm39) missense probably damaging 1.00
R0097:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0099:Krt81 UTSW 15 101,361,402 (GRCm39) nonsense probably null
R0110:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0112:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0196:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0449:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0450:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0482:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0510:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0511:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0512:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0514:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0533:Krt81 UTSW 15 101,359,270 (GRCm39) missense probably benign 0.42
R0639:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0674:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0692:Krt81 UTSW 15 101,358,053 (GRCm39) missense possibly damaging 0.91
R1458:Krt81 UTSW 15 101,358,198 (GRCm39) missense probably benign 0.34
R1824:Krt81 UTSW 15 101,358,020 (GRCm39) missense probably damaging 0.98
R1991:Krt81 UTSW 15 101,360,435 (GRCm39) missense probably benign 0.01
R2338:Krt81 UTSW 15 101,361,217 (GRCm39) missense probably benign 0.25
R4169:Krt81 UTSW 15 101,359,193 (GRCm39) missense probably benign
R4170:Krt81 UTSW 15 101,359,193 (GRCm39) missense probably benign
R5267:Krt81 UTSW 15 101,357,340 (GRCm39) missense probably benign
R5903:Krt81 UTSW 15 101,358,083 (GRCm39) missense probably damaging 1.00
R6306:Krt81 UTSW 15 101,357,404 (GRCm39) missense probably benign 0.01
R7055:Krt81 UTSW 15 101,359,006 (GRCm39) missense probably benign 0.43
R7069:Krt81 UTSW 15 101,358,609 (GRCm39) missense possibly damaging 0.75
R7191:Krt81 UTSW 15 101,358,110 (GRCm39) missense probably damaging 1.00
R7441:Krt81 UTSW 15 101,359,251 (GRCm39) missense possibly damaging 0.95
R7727:Krt81 UTSW 15 101,357,448 (GRCm39) missense probably damaging 1.00
R7728:Krt81 UTSW 15 101,358,087 (GRCm39) missense probably damaging 1.00
R7733:Krt81 UTSW 15 101,361,395 (GRCm39) missense probably damaging 0.96
R8460:Krt81 UTSW 15 101,361,493 (GRCm39) missense probably damaging 0.98
R9324:Krt81 UTSW 15 101,361,335 (GRCm39) missense probably damaging 0.99
R9597:Krt81 UTSW 15 101,358,919 (GRCm39) missense probably benign 0.06
R9638:Krt81 UTSW 15 101,358,856 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TCGATGAAGGCTGCGAACTTGCTG -3'
(R):5'- TGAAGCTGCCATAAATAGGACCCCG -3'

Sequencing Primer
(F):5'- CGAACTTGCTGTTGAGACAC -3'
(R):5'- CCGGTGCCTGGACTAGC -3'
Posted On 2013-09-30