Incidental Mutation 'R7733:Krt81'
ID 596019
Institutional Source Beutler Lab
Gene Symbol Krt81
Ensembl Gene ENSMUSG00000067615
Gene Name keratin 81
Synonyms Krt2-19
MMRRC Submission 045789-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R7733 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 101356942-101361632 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101361395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 62 (S62C)
Ref Sequence ENSEMBL: ENSMUSP00000056525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061185]
AlphaFold Q9ERE2
Predicted Effect probably damaging
Transcript: ENSMUST00000061185
AA Change: S62C

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000056525
Gene: ENSMUSG00000067615
AA Change: S62C

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.3%
Validation Efficiency 100% (83/83)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik T A 6: 133,271,240 (GRCm39) S95T probably benign Het
Abca8a A G 11: 109,945,413 (GRCm39) F1070L probably benign Het
Acsl3 G C 1: 78,665,953 (GRCm39) probably null Het
Adarb2 T A 13: 8,802,644 (GRCm39) S640T possibly damaging Het
Adgre5 T C 8: 84,456,025 (GRCm39) D257G probably benign Het
Adora2b A T 11: 62,156,165 (GRCm39) I205F possibly damaging Het
Asb14 A G 14: 26,634,309 (GRCm39) M505V probably benign Het
Atrnl1 T C 19: 57,690,420 (GRCm39) V876A probably benign Het
AU040320 A G 4: 126,729,322 (GRCm39) N495D possibly damaging Het
Bcam A T 7: 19,494,313 (GRCm39) V361E probably benign Het
Ccdc7a T A 8: 129,719,533 (GRCm39) E247V probably damaging Het
Cd84 T A 1: 171,668,226 (GRCm39) M1K probably null Het
Cfap43 C T 19: 47,886,432 (GRCm39) R61H possibly damaging Het
Clec4a1 A G 6: 122,909,109 (GRCm39) D159G possibly damaging Het
Ctcfl C T 2: 172,958,985 (GRCm39) R247Q probably benign Het
Ctdnep1 G A 11: 69,880,835 (GRCm39) R236Q probably damaging Het
Cwf19l2 A T 9: 3,450,066 (GRCm39) H589L probably benign Het
Cyp2u1 G T 3: 131,096,676 (GRCm39) A34E probably benign Het
Cyp4x1 A G 4: 114,977,391 (GRCm39) S281P possibly damaging Het
Dag1 T C 9: 108,086,047 (GRCm39) T365A probably benign Het
Dhx57 A T 17: 80,572,503 (GRCm39) probably null Het
Dnajb1 T G 8: 84,335,006 (GRCm39) S16A probably benign Het
Dsc2 A T 18: 20,181,372 (GRCm39) L145Q probably benign Het
Dsc2 G C 18: 20,181,373 (GRCm39) L145V probably benign Het
Eefsec T C 6: 88,353,202 (GRCm39) T156A possibly damaging Het
Eif6 T A 2: 155,665,152 (GRCm39) D169V probably benign Het
Ell3 C A 2: 121,273,001 (GRCm39) G3V possibly damaging Het
Eprs1 A T 1: 185,129,358 (GRCm39) H615L probably benign Het
Fbxw10 A G 11: 62,764,223 (GRCm39) Y630C unknown Het
Fcgbpl1 A T 7: 27,839,390 (GRCm39) D401V probably damaging Het
G6pc2 C T 2: 69,050,527 (GRCm39) Q51* probably null Het
Glt8d1 C T 14: 30,723,935 (GRCm39) probably benign Het
Gpr4 T C 7: 18,956,635 (GRCm39) Y186H probably damaging Het
Grhpr T C 4: 44,981,494 (GRCm39) probably benign Het
Gsdma3 A G 11: 98,526,041 (GRCm39) H264R probably damaging Het
Hcfc2 A G 10: 82,575,013 (GRCm39) Y224C probably benign Het
Helz2 A G 2: 180,872,148 (GRCm39) F2608S possibly damaging Het
Herc2 C T 7: 55,838,412 (GRCm39) T3313M probably damaging Het
Hmgcl A T 4: 135,687,394 (GRCm39) H223L probably benign Het
Igf2r A G 17: 12,958,256 (GRCm39) V139A possibly damaging Het
Iqcn A G 8: 71,170,100 (GRCm39) T1397A possibly damaging Het
Kif5a T A 10: 127,072,609 (GRCm39) T727S probably benign Het
Kifc1 G A 17: 34,102,543 (GRCm39) R357W probably damaging Het
Lgi2 T C 5: 52,695,873 (GRCm39) N362S probably benign Het
Lig1 G T 7: 13,030,157 (GRCm39) R378L possibly damaging Het
Map3k13 C T 16: 21,740,436 (GRCm39) R588C probably damaging Het
Mov10l1 T A 15: 88,909,004 (GRCm39) F1008L probably damaging Het
Nr4a2 A G 2: 57,002,333 (GRCm39) V40A probably benign Het
Nrde2 A T 12: 100,110,399 (GRCm39) C206S possibly damaging Het
Or4f14d C T 2: 111,960,386 (GRCm39) V257I probably benign Het
Parp1 T C 1: 180,427,777 (GRCm39) probably null Het
Pcdhb12 A G 18: 37,570,089 (GRCm39) T412A probably damaging Het
Plekhh2 T A 17: 84,890,952 (GRCm39) Y839* probably null Het
Pnpla6 T A 8: 3,572,660 (GRCm39) F316I probably benign Het
Prcp C T 7: 92,550,506 (GRCm39) T101M probably damaging Het
Prex2 G T 1: 11,252,183 (GRCm39) R1076L probably benign Het
Prpf40b T C 15: 99,206,224 (GRCm39) probably null Het
Psd3 T G 8: 68,573,568 (GRCm39) K204N possibly damaging Het
Ptpro C A 6: 137,391,284 (GRCm39) C801* probably null Het
Ptprt A G 2: 161,417,707 (GRCm39) V923A probably damaging Het
Ptprz1 T A 6: 23,000,383 (GRCm39) D824E probably benign Het
Rasgrf1 A G 9: 89,863,780 (GRCm39) D582G probably benign Het
Rfc2 T C 5: 134,622,070 (GRCm39) L183P probably damaging Het
Rnf114 T C 2: 167,354,438 (GRCm39) V173A probably damaging Het
Scn3a T A 2: 65,338,994 (GRCm39) I562F probably benign Het
Setmar T C 6: 108,053,088 (GRCm39) I194T probably damaging Het
Sptb A T 12: 76,644,695 (GRCm39) probably null Het
Sptbn2 C G 19: 4,799,040 (GRCm39) R2037G probably benign Het
Sptlc3 G T 2: 139,473,288 (GRCm39) M512I possibly damaging Het
Svep1 C A 4: 58,049,239 (GRCm39) A3423S probably benign Het
Sycp1 T C 3: 102,803,278 (GRCm39) T511A probably benign Het
Synm T A 7: 67,385,693 (GRCm39) probably null Het
Tada1 C T 1: 166,217,511 (GRCm39) P216L probably damaging Het
Tas2r117 T A 6: 132,780,138 (GRCm39) M92K probably benign Het
Thoc2l T C 5: 104,667,826 (GRCm39) F783L possibly damaging Het
Thsd1 T C 8: 22,748,737 (GRCm39) L536P probably damaging Het
Timp2 T G 11: 118,208,355 (GRCm39) probably null Het
Trak1 T A 9: 121,196,291 (GRCm39) V41D possibly damaging Het
Ubqln3 T A 7: 103,790,283 (GRCm39) L602F probably damaging Het
Vmn2r59 A G 7: 41,661,443 (GRCm39) F791L probably benign Het
Wbp4 A G 14: 79,714,480 (GRCm39) probably null Het
Zng1 T C 19: 24,918,158 (GRCm39) D204G probably damaging 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
R0737:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
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
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'- ATGCTCTGCTGGTCTAGGACAC -3'
(R):5'- AGCACCATGACCTGTGGATC -3'

Sequencing Primer
(F):5'- CTTGTCGATGAAGGCTGCGAAC -3'
(R):5'- ATCAGGATTCTGTGGCCGC -3'
Posted On 2019-11-12