Incidental Mutation 'IGL03295:Krt2'
ID 416057
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: 0.131) question?
Stock # IGL03295
Quality Score
Status
Chromosome 15
Chromosomal Location 101810689-101818169 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101816429 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 249 (I249F)
Ref Sequence ENSEMBL: ENSMUSP00000023712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023712]
AlphaFold Q3TTY5
Predicted Effect probably damaging
Transcript: ENSMUST00000023712
AA Change: I249F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023712
Gene: ENSMUSG00000064201
AA Change: I249F

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
A930011G23Rik A T 5: 99,243,056 probably benign Het
Adamts5 T C 16: 85,877,945 T444A probably damaging Het
Aldh18a1 T C 19: 40,562,942 E522G probably damaging Het
Bbx T C 16: 50,224,564 T437A probably damaging Het
Bsx A G 9: 40,874,447 probably benign Het
C330027C09Rik T C 16: 48,994,341 S22P probably damaging Het
Cdc42bpa A G 1: 180,150,204 N729S probably benign Het
Cdk1 G T 10: 69,342,543 H162Q possibly damaging Het
Chrac1 A G 15: 73,093,596 probably benign Het
Ddx60 A T 8: 61,956,121 D397V possibly damaging Het
Edn2 T A 4: 120,161,981 C56S probably damaging Het
Gm13103 G A 4: 143,853,189 C448Y probably damaging Het
Gm4952 T C 19: 12,618,327 V27A probably benign Het
Herc1 T A 9: 66,396,703 S763T possibly damaging Het
Hspd1 G A 1: 55,080,175 T381I probably benign Het
Lman2l T C 1: 36,438,811 D148G probably damaging Het
Lrp1b C T 2: 40,678,987 probably null Het
Mier3 C A 13: 111,703,681 T51K probably benign Het
Ppp1r36 C T 12: 76,438,418 P305L probably damaging Het
Prdm1 T C 10: 44,439,870 I790V probably damaging Het
Sephs2 T C 7: 127,272,769 E384G possibly damaging Het
Sipa1l1 T A 12: 82,432,940 W1466R probably damaging Het
Snai2 T C 16: 14,706,774 L48P possibly damaging Het
Stt3a A G 9: 36,763,331 probably null Het
Synj1 T A 16: 90,938,430 N1545I probably benign Het
Vav2 A T 2: 27,275,029 S607T possibly damaging Het
Wdr27 T C 17: 14,934,575 K27E possibly damaging Het
Xcl1 A T 1: 164,935,435 V19E unknown Het
Xlr3c A T X: 73,257,634 probably null Het
Zbtb44 T A 9: 31,053,457 D54E probably benign Het
Zscan21 A G 5: 138,125,278 D73G possibly damaging 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
IGL02022:Krt2 APN 15 101816518 missense probably damaging 1.00
IGL02538:Krt2 APN 15 101811154 missense unknown
IGL02959:Krt2 APN 15 101811328 missense unknown
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 2016-08-02