Incidental Mutation 'R8252:Krt5'
ID 640206
Institutional Source Beutler Lab
Gene Symbol Krt5
Ensembl Gene ENSMUSG00000061527
Gene Name keratin 5
Synonyms Tfip8, Krt2-5, 3300001P10Rik, K5
MMRRC Submission 067678-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8252 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 101615505-101621333 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101620794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 151 (I151N)
Ref Sequence ENSEMBL: ENSMUSP00000023709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023709]
AlphaFold Q922U2
Predicted Effect probably damaging
Transcript: ENSMUST00000023709
AA Change: I151N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023709
Gene: ENSMUSG00000061527
AA Change: I151N

DomainStartEndE-ValueType
Pfam:Keratin_2_head 16 158 3.6e-44 PFAM
Filament 161 474 1.58e-174 SMART
low complexity region 483 577 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (60/60)
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. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die within the first hour after birth. They have a loose, fragile epidermal layer and abnormal epithelium in parts of the digestive tract. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 T C 2: 22,861,284 (GRCm39) probably benign Het
Ano4 A G 10: 88,816,881 (GRCm39) I644T probably damaging Het
Arhgap18 T A 10: 26,730,932 (GRCm39) D203E probably benign Het
Ascc3 T A 10: 50,518,706 (GRCm39) M337K probably benign Het
Atg13 G C 2: 91,510,699 (GRCm39) P343A probably benign Het
Cacna1c C T 6: 118,634,335 (GRCm39) V1058I Het
Cd180 A G 13: 102,842,504 (GRCm39) T517A probably benign Het
Cd1d2 A C 3: 86,894,375 (GRCm39) I48L probably benign Het
Cdh19 C T 1: 110,817,615 (GRCm39) C709Y probably benign Het
Chst10 T C 1: 38,923,433 (GRCm39) D51G probably benign Het
Clec2g G A 6: 128,958,335 (GRCm39) E184K probably benign Het
Col19a1 T A 1: 24,319,048 (GRCm39) H1014L probably benign Het
Fam135b T A 15: 71,404,872 (GRCm39) H58L probably benign Het
Fam171b A G 2: 83,708,586 (GRCm39) I363V probably benign Het
Hecw1 C A 13: 14,515,425 (GRCm39) G236W probably damaging Het
Htra3 A G 5: 35,810,305 (GRCm39) M459T probably benign Het
Iglc2 A T 16: 19,017,520 (GRCm39) C27* probably null Het
Il36b A T 2: 24,048,825 (GRCm39) T77S possibly damaging Het
Kif1b A T 4: 149,358,262 (GRCm39) N135K probably damaging Het
Lama4 A T 10: 38,936,142 (GRCm39) M606L probably benign Het
Lgr6 T A 1: 134,931,215 (GRCm39) S280C probably null Het
Msh3 T A 13: 92,357,569 (GRCm39) T967S probably damaging Het
Ndufb4 T C 16: 37,474,637 (GRCm39) T29A probably benign Het
Nfe2l1 T C 11: 96,710,058 (GRCm39) M724V probably benign Het
Nudt12 T C 17: 59,318,089 (GRCm39) Y52C probably damaging Het
Nutm1 G T 2: 112,082,174 (GRCm39) Q301K probably damaging Het
Or2t46 T A 11: 58,471,958 (GRCm39) I96N probably damaging Het
Or4c102 A G 2: 88,423,011 (GRCm39) R288G probably damaging Het
Or5p50 A G 7: 107,421,776 (GRCm39) I300T probably damaging Het
Or6e1 T A 14: 54,519,704 (GRCm39) Y216F possibly damaging Het
Pcdh9 T C 14: 94,126,086 (GRCm39) Y28C probably damaging Het
Pcdha11 G C 18: 37,140,590 (GRCm39) V740L possibly damaging Het
Pkd1l2 T C 8: 117,767,472 (GRCm39) T1273A probably benign Het
Pla2g4a T C 1: 149,727,058 (GRCm39) D574G probably damaging Het
Prrc2b A T 2: 32,109,392 (GRCm39) Q1719L possibly damaging Het
Psap A G 10: 60,113,511 (GRCm39) probably benign Het
Pwwp3a A G 10: 80,077,694 (GRCm39) I656V probably benign Het
Rab11fip2 C T 19: 59,925,422 (GRCm39) S265N probably benign Het
Rnf10 A T 5: 115,398,373 (GRCm39) D53E probably benign Het
Scgb2b11 T C 7: 31,908,764 (GRCm39) E112G probably benign Het
Scml4 T C 10: 42,800,100 (GRCm39) Y85H noncoding transcript Het
Setd5 T A 6: 113,127,916 (GRCm39) Y1290N probably benign Het
Sgk1 T A 10: 21,873,298 (GRCm39) C375S probably damaging Het
Sik2 A G 9: 50,828,415 (GRCm39) V209A possibly damaging Het
Sipa1l2 A T 8: 126,195,410 (GRCm39) V776D probably damaging Het
Slamf1 T A 1: 171,594,796 (GRCm39) M1K probably null Het
Slc26a7 T C 4: 14,621,415 (GRCm39) probably benign Het
Spg11 G T 2: 121,918,820 (GRCm39) probably benign Het
Sry C A Y: 2,663,298 (GRCm39) A121S possibly damaging Het
Sspo C T 6: 48,462,386 (GRCm39) T3719I probably damaging Het
Tcap T C 11: 98,275,171 (GRCm39) S102P probably benign Het
Thap7 T C 16: 17,346,486 (GRCm39) R166G probably benign Het
Tmem229a T C 6: 24,955,580 (GRCm39) Y58C probably damaging Het
Trim8 A G 19: 46,504,059 (GRCm39) Y537C probably damaging Het
Ubr4 T A 4: 139,200,528 (GRCm39) M4692K unknown Het
Uvssa A G 5: 33,549,523 (GRCm39) S395G probably benign Het
Vgll4 G T 6: 114,867,695 (GRCm39) T52K probably damaging Het
Vmn2r7 A G 3: 64,600,527 (GRCm39) L548P probably benign Het
Vmn2r92 T A 17: 18,387,134 (GRCm39) S158T probably damaging Het
Wdr70 A T 15: 8,072,337 (GRCm39) probably benign Het
Zbtb48 A T 4: 152,105,344 (GRCm39) C463S probably damaging Het
Other mutations in Krt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00475:Krt5 APN 15 101,621,076 (GRCm39) missense unknown
IGL01949:Krt5 APN 15 101,619,048 (GRCm39) missense probably benign 0.14
IGL03013:Krt5 APN 15 101,620,103 (GRCm39) missense probably benign 0.00
IGL03286:Krt5 APN 15 101,615,983 (GRCm39) missense unknown
R1598:Krt5 UTSW 15 101,620,876 (GRCm39) missense probably benign 0.38
R1697:Krt5 UTSW 15 101,619,020 (GRCm39) missense probably benign 0.06
R1967:Krt5 UTSW 15 101,620,094 (GRCm39) missense probably benign 0.21
R2143:Krt5 UTSW 15 101,620,794 (GRCm39) missense probably damaging 1.00
R2438:Krt5 UTSW 15 101,620,093 (GRCm39) missense probably benign 0.10
R4633:Krt5 UTSW 15 101,620,042 (GRCm39) missense probably damaging 0.98
R4771:Krt5 UTSW 15 101,617,494 (GRCm39) missense probably damaging 0.99
R4918:Krt5 UTSW 15 101,618,742 (GRCm39) missense probably damaging 1.00
R5622:Krt5 UTSW 15 101,617,470 (GRCm39) missense probably damaging 1.00
R6797:Krt5 UTSW 15 101,621,076 (GRCm39) missense unknown
R6873:Krt5 UTSW 15 101,621,312 (GRCm39) start gained probably benign
R7808:Krt5 UTSW 15 101,617,453 (GRCm39) missense probably benign 0.01
R8010:Krt5 UTSW 15 101,620,791 (GRCm39) missense probably damaging 1.00
R8696:Krt5 UTSW 15 101,618,742 (GRCm39) missense probably damaging 1.00
R8889:Krt5 UTSW 15 101,619,185 (GRCm39) missense probably benign 0.01
R8892:Krt5 UTSW 15 101,619,185 (GRCm39) missense probably benign 0.01
R9468:Krt5 UTSW 15 101,615,980 (GRCm39) missense unknown
R9578:Krt5 UTSW 15 101,620,153 (GRCm39) missense probably damaging 0.98
R9696:Krt5 UTSW 15 101,616,141 (GRCm39) missense unknown
X0019:Krt5 UTSW 15 101,620,803 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CACAGGCAGTATCAGAGCTG -3'
(R):5'- GCAGCTTCAGGAACCAATTTG -3'

Sequencing Primer
(F):5'- AGAGCTGAGACTGAAGCCTCTTC -3'
(R):5'- GCTTTGGAGGAGGAGCCG -3'
Posted On 2020-07-28