Incidental Mutation 'R5903:Krt81'
ID456469
Institutional Source Beutler Lab
Gene Symbol Krt81
Ensembl Gene ENSMUSG00000067615
Gene Namekeratin 81
SynonymsKrt2-19
MMRRC Submission 044101-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.099) question?
Stock #R5903 (G1)
Quality Score225
Status Validated
Chromosome15
Chromosomal Location101459061-101463751 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 101460202 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Proline at position 390 (Q390P)
Ref Sequence ENSEMBL: ENSMUSP00000056525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061185]
Predicted Effect probably damaging
Transcript: ENSMUST00000061185
AA Change: Q390P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056525
Gene: ENSMUSG00000067615
AA Change: Q390P

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.8%
Validation Efficiency 98% (58/59)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik A G 5: 65,988,318 V150A unknown Het
Abraxas1 T C 5: 100,817,958 probably null Het
Actl7a G T 4: 56,743,827 R118L probably damaging Het
Atg2b T C 12: 105,639,359 D1449G possibly damaging Het
Atg7 G A 6: 114,706,293 W439* probably null Het
Atp6v0a2 T A 5: 124,712,279 I370N probably damaging Het
B4galt1 T C 4: 40,807,760 D347G probably damaging Het
Baz2b C T 2: 59,959,889 C660Y probably damaging Het
Ccdc88c T C 12: 100,930,542 Y1390C probably damaging Het
Cdcp1 G A 9: 123,173,772 Q745* probably null Het
Cep97 G A 16: 55,919,526 S185L probably damaging Het
Clec4d A G 6: 123,267,061 H43R probably damaging Het
Cntn3 T A 6: 102,242,133 M509L probably benign Het
Cntrob A C 11: 69,309,375 S564R possibly damaging Het
Cyp2j8 T A 4: 96,507,277 N37I possibly damaging Het
Edc4 A G 8: 105,890,587 T1029A probably benign Het
Fam160b2 A T 14: 70,591,681 V64E probably damaging Het
Fmnl1 G T 11: 103,171,444 probably null Het
Fzd6 T A 15: 39,007,388 M1K probably null Het
Gle1 C A 2: 29,940,281 T283N probably benign Het
Hsd17b14 T C 7: 45,565,962 V161A probably damaging Het
Hsf2 T C 10: 57,504,723 S218P probably benign Het
Ipo7 T A 7: 110,050,813 C736S probably damaging Het
Itpkb G T 1: 180,413,975 V737L probably damaging Het
Itpr1 T C 6: 108,489,797 probably benign Het
Kcnh8 G T 17: 52,803,336 V192L possibly damaging Het
Kctd10 G A 5: 114,380,462 probably benign Het
Kdm3a C A 6: 71,632,250 probably benign Het
Kif5a T A 10: 127,230,578 M990L probably benign Het
Klf12 A G 14: 100,022,688 S202P probably damaging Het
Lrig3 T C 10: 126,008,478 S604P probably damaging Het
Ms4a1 A T 19: 11,258,248 V48D probably damaging Het
Mta1 C T 12: 113,136,619 P688L probably damaging Het
Oas1h T C 5: 120,870,977 V250A probably damaging Het
Olfr618 G T 7: 103,597,921 G202* probably null Het
Olfr95 A T 17: 37,211,021 Y277* probably null Het
P2rx3 T C 2: 85,000,727 E265G possibly damaging Het
Pdzd8 A G 19: 59,345,286 I101T possibly damaging Het
Psme4 A T 11: 30,841,589 N1148I probably benign Het
Rnf213 T C 11: 119,421,369 L874P probably damaging Het
Sart3 T C 5: 113,751,239 Y508C probably damaging Het
Sez6l2 T C 7: 126,970,133 probably benign Het
Slc9b1 C T 3: 135,392,894 probably benign Het
Stmn3 T C 2: 181,308,780 K78E possibly damaging Het
Thsd4 T A 9: 60,394,106 N302I possibly damaging Het
Trdv5 A T 14: 54,148,785 H74Q probably benign Het
Tubb4b C T 2: 25,223,981 R77H probably benign Het
Ugt1a6a C T 1: 88,215,123 P113L probably damaging Het
Unc5a T A 13: 54,999,690 C438S possibly damaging Het
Zan C A 5: 137,442,134 C1946F unknown Het
Other mutations in Krt81
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Krt81 APN 15 101460278 missense probably benign 0.01
IGL01012:Krt81 APN 15 101461019 missense probably benign 0.05
IGL01287:Krt81 APN 15 101463388 missense probably benign 0.00
IGL01304:Krt81 APN 15 101463388 missense probably benign 0.00
IGL01319:Krt81 APN 15 101463388 missense probably benign 0.00
IGL01403:Krt81 APN 15 101463388 missense probably benign 0.00
PIT4508001:Krt81 UTSW 15 101462725 missense probably damaging 1.00
R0083:Krt81 UTSW 15 101463465 missense probably damaging 1.00
R0097:Krt81 UTSW 15 101463627 missense possibly damaging 0.81
R0099:Krt81 UTSW 15 101463521 nonsense probably null
R0110:Krt81 UTSW 15 101463627 missense possibly damaging 0.81
R0112:Krt81 UTSW 15 101463627 missense possibly damaging 0.81
R0196:Krt81 UTSW 15 101463627 missense possibly damaging 0.81
R0449:Krt81 UTSW 15 101463627 missense possibly damaging 0.81
R0450:Krt81 UTSW 15 101463627 missense possibly damaging 0.81
R0482:Krt81 UTSW 15 101463627 missense possibly damaging 0.81
R0510:Krt81 UTSW 15 101463627 missense possibly damaging 0.81
R0511:Krt81 UTSW 15 101463627 missense possibly damaging 0.81
R0512:Krt81 UTSW 15 101463627 missense possibly damaging 0.81
R0514:Krt81 UTSW 15 101463627 missense possibly damaging 0.81
R0533:Krt81 UTSW 15 101461389 missense probably benign 0.42
R0639:Krt81 UTSW 15 101463627 missense possibly damaging 0.81
R0674:Krt81 UTSW 15 101463627 missense possibly damaging 0.81
R0692:Krt81 UTSW 15 101460172 missense possibly damaging 0.91
R0737:Krt81 UTSW 15 101463627 missense possibly damaging 0.81
R1458:Krt81 UTSW 15 101460317 missense probably benign 0.34
R1824:Krt81 UTSW 15 101460139 missense probably damaging 0.98
R1991:Krt81 UTSW 15 101462554 missense probably benign 0.01
R2338:Krt81 UTSW 15 101463336 missense probably benign 0.25
R4169:Krt81 UTSW 15 101461312 missense probably benign
R4170:Krt81 UTSW 15 101461312 missense probably benign
R5267:Krt81 UTSW 15 101459459 missense probably benign
R6306:Krt81 UTSW 15 101459523 missense probably benign 0.01
R7055:Krt81 UTSW 15 101461125 missense probably benign 0.43
R7069:Krt81 UTSW 15 101460728 missense possibly damaging 0.75
R7191:Krt81 UTSW 15 101460229 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCTCAAAGGGACCAATGG -3'
(R):5'- TTGGGAAAGATTGGATAGCATGCTG -3'

Sequencing Primer
(F):5'- ATGGAAGATTTGCCCTCCAG -3'
(R):5'- AGGGACCCTTGGCTATCTC -3'
Posted On2017-02-15