Incidental Mutation 'R1458:Krt81'
ID 161919
Institutional Source Beutler Lab
Gene Symbol Krt81
Ensembl Gene ENSMUSG00000067615
Gene Name keratin 81
Synonyms Krt2-19
MMRRC Submission 039513-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R1458 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 101356942-101361632 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 101358198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 352 (Q352K)
Ref Sequence ENSEMBL: ENSMUSP00000056525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061185]
AlphaFold Q9ERE2
Predicted Effect probably benign
Transcript: ENSMUST00000061185
AA Change: Q352K

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000056525
Gene: ENSMUSG00000067615
AA Change: Q352K

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 0.1653 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.8%
Validation Efficiency 98% (95/97)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700036A12Rik A G 9: 60,677,043 (GRCm39) noncoding transcript Het
A430110L20Rik T A 1: 181,055,423 (GRCm39) noncoding transcript Het
Abce1 T C 8: 80,433,864 (GRCm39) K63R possibly damaging Het
Acp6 A G 3: 97,081,104 (GRCm39) probably benign Het
Adamts13 T A 2: 26,878,366 (GRCm39) L579Q probably damaging Het
Adamtsl3 T A 7: 82,172,528 (GRCm39) M497K probably damaging Het
Adgrb2 T A 4: 129,908,384 (GRCm39) M1042K possibly damaging Het
Akap12 A T 10: 4,303,693 (GRCm39) S168C probably damaging Het
Akap3 A T 6: 126,842,517 (GRCm39) M379L probably damaging Het
Aldh6a1 C T 12: 84,486,437 (GRCm39) M135I probably null Het
Arhgef12 A G 9: 42,900,294 (GRCm39) S860P probably damaging Het
Atp11b A C 3: 35,843,707 (GRCm39) T185P probably damaging Het
Bcas1 T C 2: 170,229,871 (GRCm39) D243G probably damaging Het
Cdhr2 T A 13: 54,865,685 (GRCm39) S228T probably damaging Het
Cic T C 7: 24,979,162 (GRCm39) probably benign Het
Cimap1d A T 10: 79,481,392 (GRCm39) probably benign Het
Cmya5 T A 13: 93,201,835 (GRCm39) I3376L probably benign Het
Ctrc C A 4: 141,573,535 (GRCm39) probably null Het
Dchs1 G T 7: 105,404,451 (GRCm39) P2697Q probably damaging Het
Dmbt1 A G 7: 130,646,217 (GRCm39) probably benign Het
Drd2 G A 9: 49,313,512 (GRCm39) R227H probably damaging Het
Dscc1 C A 15: 54,950,160 (GRCm39) C195F probably damaging Het
Dzip1 T A 14: 119,160,125 (GRCm39) M28L probably benign Het
Edar A T 10: 58,443,188 (GRCm39) S313T probably benign Het
Eef1e1 C A 13: 38,840,099 (GRCm39) A69S probably damaging Het
Fbn1 A G 2: 125,143,849 (GRCm39) V2760A probably benign Het
Fez1 GACAAACA GACA 9: 36,781,845 (GRCm39) probably null Het
Fgl1 C G 8: 41,663,496 (GRCm39) A11P possibly damaging Het
Fras1 T C 5: 96,748,592 (GRCm39) V689A probably benign Het
Fry T A 5: 150,304,324 (GRCm39) D571E probably damaging Het
Gm11232 T A 4: 71,675,450 (GRCm39) R104* probably null Het
Gm1527 A G 3: 28,972,199 (GRCm39) I439V possibly damaging Het
Gm4922 C A 10: 18,659,640 (GRCm39) G361* probably null Het
Gm7052 T A 17: 22,259,447 (GRCm39) probably benign Het
Gpatch8 A T 11: 102,372,055 (GRCm39) S494R unknown Het
Gria2 A T 3: 80,639,352 (GRCm39) V220E possibly damaging Het
Grik4 G A 9: 42,432,418 (GRCm39) H860Y probably benign Het
Gtpbp1 A C 15: 79,591,930 (GRCm39) S93R probably damaging Het
Gucy2g C A 19: 55,203,468 (GRCm39) probably benign Het
H2ac8 C A 13: 23,755,221 (GRCm39) probably benign Het
Hmcn1 G A 1: 150,485,451 (GRCm39) R4384C probably damaging Het
Hspa12b G C 2: 130,987,112 (GRCm39) A678P probably damaging Het
Igsf21 T A 4: 139,755,435 (GRCm39) N407Y probably damaging Het
Insig2 A G 1: 121,234,885 (GRCm39) Y174H probably benign Het
Itpr3 T A 17: 27,337,346 (GRCm39) M2413K probably benign Het
Kalrn A T 16: 33,994,857 (GRCm39) I1322N probably damaging Het
Klk1b24 T A 7: 43,840,890 (GRCm39) M106K possibly damaging Het
Lca5l A T 16: 95,961,059 (GRCm39) S468T possibly damaging Het
Lvrn T C 18: 47,015,452 (GRCm39) probably benign Het
Mcpt1 T A 14: 56,256,621 (GRCm39) probably benign Het
Med13l T C 5: 118,876,524 (GRCm39) M900T probably benign Het
Med16 A G 10: 79,743,312 (GRCm39) probably benign Het
Megf6 G T 4: 154,261,578 (GRCm39) V68L probably benign Het
Mep1a T C 17: 43,802,563 (GRCm39) H154R probably damaging Het
Mrc2 A T 11: 105,228,598 (GRCm39) D659V probably benign Het
Mroh8 T A 2: 157,063,224 (GRCm39) E799V probably damaging Het
Mrpl21 A G 19: 3,334,808 (GRCm39) Y50C possibly damaging Het
Msl1 A G 11: 98,694,808 (GRCm39) probably benign Het
Myo1a C A 10: 127,555,806 (GRCm39) Q932K probably benign Het
Nav3 A C 10: 109,555,905 (GRCm39) S1675R probably damaging Het
Neurl2 A G 2: 164,674,666 (GRCm39) V232A possibly damaging Het
Nfatc1 T A 18: 80,708,482 (GRCm39) probably benign Het
Or2w4 C T 13: 21,795,992 (GRCm39) C49Y probably benign Het
Or5k8 T A 16: 58,645,039 (GRCm39) E11V probably null Het
P4hb A G 11: 120,453,381 (GRCm39) probably benign Het
Papss1 T G 3: 131,311,615 (GRCm39) I281S probably damaging Het
Pde10a A T 17: 9,183,540 (GRCm39) D832V probably damaging Het
Pfkfb2 A T 1: 130,635,927 (GRCm39) Y35N possibly damaging Het
Phaf1 T C 8: 105,973,188 (GRCm39) probably null Het
Phf20l1 T A 15: 66,476,662 (GRCm39) F253Y probably damaging Het
Pkhd1l1 G A 15: 44,379,511 (GRCm39) V1046I probably benign Het
Plin3 C T 17: 56,591,337 (GRCm39) A148T probably benign Het
Ppp1r8 T C 4: 132,567,942 (GRCm39) probably benign Het
Ppp2r3d A G 9: 101,088,511 (GRCm39) L604P probably damaging Het
Prdm5 T C 6: 65,860,585 (GRCm39) V239A probably damaging Het
Prickle1 A G 15: 93,398,519 (GRCm39) S770P probably damaging Het
Prl2c5 T A 13: 13,365,310 (GRCm39) I155N probably benign Het
Prom1 T C 5: 44,190,274 (GRCm39) probably benign Het
Psg25 C T 7: 18,263,512 (GRCm39) G104R probably damaging Het
Rbm19 T C 5: 120,282,094 (GRCm39) V817A probably benign Het
Ryr2 T A 13: 11,741,908 (GRCm39) Y2091F probably damaging Het
Slc16a4 A G 3: 107,208,248 (GRCm39) T253A probably benign Het
Smg7 A T 1: 152,731,594 (GRCm39) probably null Het
Spink5 C A 18: 44,140,786 (GRCm39) H662N probably benign Het
Taf2 A T 15: 54,923,311 (GRCm39) M322K probably damaging Het
Tmc2 T C 2: 130,090,682 (GRCm39) F676S probably damaging Het
Tmem177 A G 1: 119,837,915 (GRCm39) S255P possibly damaging Het
Trim46 A T 3: 89,142,375 (GRCm39) probably null Het
Tubb1 T A 2: 174,292,596 (GRCm39) probably null Het
Upf1 T C 8: 70,796,904 (GRCm39) T110A probably benign Het
Vmn2r9 T A 5: 108,996,850 (GRCm39) I140L probably benign Het
Zfp638 T A 6: 83,921,638 (GRCm39) H588Q probably damaging Het
Zfp780b T A 7: 27,664,252 (GRCm39) N101I probably damaging Het
Zpld2 T C 4: 133,924,144 (GRCm39) D467G 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
R0737:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
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'- GAAAGACTCACCTCTGTTCCTCGC -3'
(R):5'- ATGTCTACTCAGTGCCACACAGCC -3'

Sequencing Primer
(F):5'- TCCTCGCCCTCCAGCAG -3'
(R):5'- ACAGCCAGCATGTGTCCTG -3'
Posted On 2014-03-14