Incidental Mutation 'IGL02022:Krt2'
ID 183997
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt2
Ensembl Gene ENSMUSG00000064201
Gene Name keratin 2
Synonyms Krt2-17, Krt2-2, Krt2e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock # IGL02022
Quality Score
Status
Chromosome 15
Chromosomal Location 101810689-101818169 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101816518 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 219 (F219S)
Ref Sequence ENSEMBL: ENSMUSP00000023712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023712]
AlphaFold Q3TTY5
Predicted Effect probably damaging
Transcript: ENSMUST00000023712
AA Change: F219S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023712
Gene: ENSMUSG00000064201
AA Change: F219S

DomainStartEndE-ValueType
Pfam:Keratin_2_head 23 195 3.6e-26 PFAM
Filament 198 511 4.22e-152 SMART
low complexity region 520 533 N/A INTRINSIC
low complexity region 538 701 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: ENU-induced mutant mice exhibit scaly skin and increased pigmentation in the tail, ears and feet. Mice homozygous for a knock-out allele show scaly skin, acanthosis, hyperkeratosis, increased water loss, ear skin inflammation, and aberrant aggregation of keratin 10 in suprabasal epidermal keratinocytes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik T C 5: 146,183,548 Y160C probably damaging Het
Abi3bp T C 16: 56,592,636 S314P probably damaging Het
Abra T C 15: 41,869,406 H88R probably benign Het
Bsn A G 9: 108,110,418 probably benign Het
Chd3 A C 11: 69,361,060 C123G probably damaging Het
Clca3b A C 3: 144,841,410 probably null Het
Cnot7 G T 8: 40,499,345 P190T probably damaging Het
Cps1 A T 1: 67,172,872 probably benign Het
Dennd2d A G 3: 106,499,904 T424A probably benign Het
Dnhd1 C T 7: 105,678,309 R54C probably damaging Het
Efhd1 G A 1: 87,264,612 E55K probably damaging Het
Ep300 T C 15: 81,611,437 probably benign Het
Ezh1 G T 11: 101,199,340 H529Q probably damaging Het
Klhl3 A T 13: 58,051,064 S201T possibly damaging Het
Lrp1b C T 2: 41,282,160 D751N probably damaging Het
Lyst T A 13: 13,664,044 C1848* probably null Het
Macf1 A G 4: 123,391,049 probably null Het
Med10 T C 13: 69,813,700 probably benign Het
Msh4 T A 3: 153,886,956 T170S probably damaging Het
Olfr665 T C 7: 104,880,934 C76R probably damaging Het
Pelp1 T A 11: 70,406,327 probably benign Het
Prex2 G A 1: 11,297,739 V1595I probably benign Het
Prpf8 C T 11: 75,501,834 R1617* probably null Het
Rabep1 T A 11: 70,934,559 L684Q probably damaging Het
Slc22a4 G A 11: 53,983,609 probably benign Het
Smox T C 2: 131,520,117 F153S probably damaging Het
Tma16 A G 8: 66,486,410 probably null Het
Unc80 G T 1: 66,626,516 R1814L possibly damaging Het
Vmn2r108 C T 17: 20,471,725 D179N possibly damaging Het
Washc2 A G 6: 116,259,165 E1199G probably benign Het
Zic1 C A 9: 91,362,472 probably null Het
Other mutations in Krt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01316:Krt2 APN 15 101811211 missense probably benign 0.23
IGL01568:Krt2 APN 15 101813211 missense probably damaging 1.00
IGL01586:Krt2 APN 15 101811390 missense unknown
IGL01667:Krt2 APN 15 101816330 missense possibly damaging 0.85
IGL02017:Krt2 APN 15 101816504 missense probably damaging 1.00
IGL02538:Krt2 APN 15 101811154 missense unknown
IGL02959:Krt2 APN 15 101811328 missense unknown
IGL03295:Krt2 APN 15 101816429 missense probably damaging 0.99
R0195:Krt2 UTSW 15 101813191 nonsense probably null
R0472:Krt2 UTSW 15 101813253 missense probably damaging 1.00
R0749:Krt2 UTSW 15 101817663 missense unknown
R0785:Krt2 UTSW 15 101817921 missense unknown
R0792:Krt2 UTSW 15 101816497 missense probably damaging 1.00
R1232:Krt2 UTSW 15 101811784 missense probably damaging 1.00
R1281:Krt2 UTSW 15 101813292 missense probably damaging 1.00
R1770:Krt2 UTSW 15 101811154 missense unknown
R1783:Krt2 UTSW 15 101813973 missense probably damaging 1.00
R1795:Krt2 UTSW 15 101816426 missense possibly damaging 0.85
R2283:Krt2 UTSW 15 101814387 missense probably damaging 1.00
R3977:Krt2 UTSW 15 101811127 missense unknown
R4575:Krt2 UTSW 15 101814486 missense probably damaging 1.00
R4619:Krt2 UTSW 15 101817591 missense probably damaging 1.00
R4620:Krt2 UTSW 15 101817591 missense probably damaging 1.00
R4766:Krt2 UTSW 15 101813960 missense probably damaging 1.00
R4819:Krt2 UTSW 15 101811544 missense unknown
R4953:Krt2 UTSW 15 101813942 missense probably damaging 1.00
R5108:Krt2 UTSW 15 101813286 missense possibly damaging 0.88
R5973:Krt2 UTSW 15 101816312 missense probably damaging 0.99
R6122:Krt2 UTSW 15 101815914 missense probably damaging 1.00
R6180:Krt2 UTSW 15 101815044 missense probably benign 0.05
R6661:Krt2 UTSW 15 101815963 missense probably damaging 1.00
R6974:Krt2 UTSW 15 101817879 missense unknown
R6993:Krt2 UTSW 15 101815960 missense probably damaging 1.00
R7104:Krt2 UTSW 15 101815087 missense probably benign 0.09
R7573:Krt2 UTSW 15 101814519 missense probably benign 0.05
R7947:Krt2 UTSW 15 101816334 missense probably damaging 1.00
R8469:Krt2 UTSW 15 101816369 missense probably benign 0.22
R8805:Krt2 UTSW 15 101815944 missense possibly damaging 0.93
R9051:Krt2 UTSW 15 101817882 missense unknown
R9118:Krt2 UTSW 15 101814541 missense probably damaging 0.99
R9230:Krt2 UTSW 15 101817513 missense probably benign 0.39
R9257:Krt2 UTSW 15 101816491 missense probably benign 0.05
R9424:Krt2 UTSW 15 101811357 missense unknown
R9569:Krt2 UTSW 15 101816489 missense probably damaging 1.00
R9576:Krt2 UTSW 15 101811357 missense unknown
RF020:Krt2 UTSW 15 101817968 missense unknown
Z1177:Krt2 UTSW 15 101811550 nonsense probably null
Posted On 2014-05-07