Incidental Mutation 'R5292:Krt80'
ID 405220
Institutional Source Beutler Lab
Gene Symbol Krt80
Ensembl Gene ENSMUSG00000037185
Gene Name keratin 80
Synonyms 2310041I20Rik, Kb20, 1200016G03Rik
MMRRC Submission 042875-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5292 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 101246196-101268043 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 101250066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 222 (R222W)
Ref Sequence ENSEMBL: ENSMUSP00000155346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077196] [ENSMUST00000230831] [ENSMUST00000230909]
AlphaFold Q0VBK2
Predicted Effect probably damaging
Transcript: ENSMUST00000077196
AA Change: R275W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076437
Gene: ENSMUSG00000037185
AA Change: R275W

DomainStartEndE-ValueType
Pfam:Keratin_2_head 2 79 2.5e-12 PFAM
Filament 82 393 2.18e-113 SMART
low complexity region 419 430 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230070
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230107
Predicted Effect probably damaging
Transcript: ENSMUST00000230831
AA Change: R60W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000230909
AA Change: R222W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
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 and are subdivided into epithelial keratins and hair keratins. This gene's expression profile shows that it encodes a type II epithelial keratin, although structurally the encoded protein is more like a type II hair keratin. This protein is involved in cell differentiation, localizing near desmosomal plaques in earlier stages of differentiation but then dispersing throughout the cytoplasm in terminally differentiating cells. The type II keratins are clustered in a region of chromosome 12q13. Two transcript variants encoding two different fully functional isoforms have been found for this gene.[provided by RefSeq, Oct 2010]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A G 8: 25,354,467 (GRCm39) V641A possibly damaging Het
Apob A T 12: 8,055,912 (GRCm39) M1465L probably benign Het
Astn1 T C 1: 158,407,933 (GRCm39) probably null Het
Bend7 G A 2: 4,768,052 (GRCm39) R336Q probably damaging Het
Col22a1 T C 15: 71,842,185 (GRCm39) Y433C probably damaging Het
Crtc3 T C 7: 80,268,358 (GRCm39) T154A possibly damaging Het
Dcc T C 18: 71,439,159 (GRCm39) Y1241C probably damaging Het
Depdc1b T C 13: 108,510,376 (GRCm39) V296A probably damaging Het
Gata3 A G 2: 9,873,685 (GRCm39) S270P probably damaging Het
Gcm1 T C 9: 77,968,708 (GRCm39) F136S probably damaging Het
Gfpt1 A G 6: 87,053,237 (GRCm39) probably null Het
Gm5174 G T 10: 86,492,562 (GRCm39) noncoding transcript Het
Hhipl1 A G 12: 108,294,037 (GRCm39) T648A probably benign Het
Hr C A 14: 70,809,432 (GRCm39) Q1177K probably damaging Het
Hrnr T C 3: 93,239,199 (GRCm39) S3146P unknown Het
Igkv10-94 C T 6: 68,681,582 (GRCm39) G86E probably damaging Het
Lrch3 T C 16: 32,796,177 (GRCm39) Y354H probably damaging Het
Or10g1 A T 14: 52,647,902 (GRCm39) N142K possibly damaging Het
Or3a1b T A 11: 74,012,877 (GRCm39) F254Y probably damaging Het
Or5w1b T A 2: 87,476,339 (GRCm39) N43Y probably damaging Het
Osbpl7 A G 11: 96,958,779 (GRCm39) D932G probably benign Het
Pakap T G 4: 57,855,356 (GRCm39) S471R probably damaging Het
Palmd T C 3: 116,717,393 (GRCm39) E368G probably benign Het
Peg3 T A 7: 6,711,259 (GRCm39) D1321V probably damaging Het
Pkhd1l1 A T 15: 44,392,962 (GRCm39) I1766F probably damaging Het
Polq A G 16: 36,881,745 (GRCm39) E1303G probably damaging Het
Ppie A G 4: 123,033,701 (GRCm39) Y9H probably damaging Het
Ptprz1 A G 6: 23,002,581 (GRCm39) N1557S probably benign Het
Rnf40 T C 7: 127,195,120 (GRCm39) V411A possibly damaging Het
Rtn4 T C 11: 29,657,924 (GRCm39) F577L probably benign Het
Sacs A G 14: 61,449,432 (GRCm39) Y3826C probably damaging Het
Slc32a1 A G 2: 158,453,307 (GRCm39) D49G probably damaging Het
Slc37a2 A T 9: 37,150,453 (GRCm39) C167* probably null Het
Slc5a1 G T 5: 33,315,585 (GRCm39) V535F probably benign Het
Smoc2 A G 17: 14,556,835 (GRCm39) K95E probably damaging Het
Smok3c A C 5: 138,063,446 (GRCm39) Q311P probably damaging Het
Spink5 C A 18: 44,139,521 (GRCm39) P628Q probably benign Het
Spint4 T C 2: 164,542,779 (GRCm39) L124S probably benign Het
Stard9 A G 2: 120,529,626 (GRCm39) K1961R probably benign Het
Synpo2 C A 3: 122,907,709 (GRCm39) V536L possibly damaging Het
Trim24 A G 6: 37,880,539 (GRCm39) K146E probably benign Het
Usp24 A G 4: 106,275,460 (GRCm39) D2245G probably benign Het
Vars2 A G 17: 35,971,678 (GRCm39) S81P probably damaging Het
Zfp39 T C 11: 58,791,415 (GRCm39) T91A probably damaging Het
Zfp764l1 T C 7: 126,991,659 (GRCm39) D97G possibly damaging Het
Zfp936 T A 7: 42,838,759 (GRCm39) Y75* probably null Het
Zkscan5 G T 5: 145,155,451 (GRCm39) C374F probably damaging Het
Other mutations in Krt80
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Krt80 APN 15 101,247,879 (GRCm39) missense possibly damaging 0.64
IGL03184:Krt80 APN 15 101,250,135 (GRCm39) missense probably damaging 1.00
1mM(1):Krt80 UTSW 15 101,262,089 (GRCm39) critical splice donor site probably null
R0394:Krt80 UTSW 15 101,250,180 (GRCm39) missense probably damaging 0.97
R0520:Krt80 UTSW 15 101,267,898 (GRCm39) missense probably benign 0.00
R1654:Krt80 UTSW 15 101,249,590 (GRCm39) missense probably damaging 0.96
R2436:Krt80 UTSW 15 101,257,384 (GRCm39) missense probably damaging 0.98
R4326:Krt80 UTSW 15 101,250,189 (GRCm39) missense possibly damaging 0.52
R5783:Krt80 UTSW 15 101,257,360 (GRCm39) critical splice donor site probably null
R5927:Krt80 UTSW 15 101,262,089 (GRCm39) critical splice donor site probably benign
R6847:Krt80 UTSW 15 101,256,610 (GRCm39) missense probably benign 0.03
R8218:Krt80 UTSW 15 101,267,884 (GRCm39) missense probably benign
R9295:Krt80 UTSW 15 101,249,652 (GRCm39) missense probably benign 0.00
R9376:Krt80 UTSW 15 101,247,978 (GRCm39) missense unknown
R9686:Krt80 UTSW 15 101,262,281 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAAGGCCCCATACAGCTTCC -3'
(R):5'- ACCTTGAGTCCTCTGCAGG -3'

Sequencing Primer
(F):5'- ATACAGCTTCCCCTCCCACG -3'
(R):5'- AGGAGTCCTGAGCCTTCC -3'
Posted On 2016-07-22