Incidental Mutation 'R5794:Krt32'
ID 447131
Institutional Source Beutler Lab
Gene Symbol Krt32
Ensembl Gene ENSMUSG00000046095
Gene Name keratin 32
Synonyms mHa2, Krt1-2
MMRRC Submission 043385-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R5794 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 99971674-99979095 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 99975812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 275 (C275F)
Ref Sequence ENSEMBL: ENSMUSP00000103042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107419]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000107419
AA Change: C275F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103042
Gene: ENSMUSG00000046095
AA Change: C275F

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
Filament 100 411 5.4e-150 SMART
low complexity region 435 448 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136820
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139873
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
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 I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aftph T C 11: 20,676,955 (GRCm39) probably null Het
Ank2 T C 3: 126,723,669 (GRCm39) N923S probably benign Het
Ano6 A T 15: 95,792,405 (GRCm39) T76S probably benign Het
Carmil1 G T 13: 24,276,533 (GRCm39) N204K probably damaging Het
Cep126 T G 9: 8,103,440 (GRCm39) N190T possibly damaging Het
Clasrp A T 7: 19,325,034 (GRCm39) D198E probably damaging Het
Cma1 T C 14: 56,181,977 (GRCm39) T18A probably benign Het
Ece1 A G 4: 137,683,844 (GRCm39) I565M probably damaging Het
Etl4 T A 2: 20,811,323 (GRCm39) F1135L probably damaging Het
Fbxw20 T C 9: 109,052,358 (GRCm39) N325S probably damaging Het
Fbxw20 A T 9: 109,062,668 (GRCm39) C53S possibly damaging Het
Gnb2 T C 5: 137,526,961 (GRCm39) D203G probably benign Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Hoxd9 T A 2: 74,529,617 (GRCm39) F291Y probably damaging Het
Igf2r T C 17: 12,928,332 (GRCm39) S1004G probably benign Het
Irgm1 T C 11: 48,757,064 (GRCm39) Y249C probably damaging Het
Kcnh3 A C 15: 99,130,855 (GRCm39) I491L probably benign Het
Kctd10 G A 5: 114,505,398 (GRCm39) R199W probably damaging Het
Klk1b4 A T 7: 43,859,069 (GRCm39) N29I probably damaging Het
Klrc1 C T 6: 129,652,317 (GRCm39) R188Q probably damaging Het
Krt73 T A 15: 101,703,264 (GRCm39) T449S probably benign Het
Napepld T A 5: 21,888,429 (GRCm39) S7C possibly damaging Het
Nfia G T 4: 97,671,838 (GRCm39) V183L possibly damaging Het
Or5g27 T C 2: 85,409,685 (GRCm39) V34A probably benign Het
Or6c3 A C 10: 129,309,295 (GRCm39) I245L possibly damaging Het
Psma3 A G 12: 71,037,271 (GRCm39) T111A probably benign Het
Psmd11 T A 11: 80,362,318 (GRCm39) D125E probably benign Het
Rabgap1 T A 2: 37,392,914 (GRCm39) D523E probably benign Het
Rttn G T 18: 89,013,693 (GRCm39) R454L probably benign Het
Serpine2 T C 1: 79,799,156 (GRCm39) N33D probably benign Het
Six4 A T 12: 73,159,124 (GRCm39) S271T possibly damaging Het
Smoc2 T A 17: 14,589,310 (GRCm39) C260S possibly damaging Het
Snai2 A T 16: 14,524,590 (GRCm39) Y32F probably benign Het
Tapt1 C T 5: 44,334,476 (GRCm39) G505D probably benign Het
Thap12 T A 7: 98,365,600 (GRCm39) D589E probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Vmn2r116 T C 17: 23,604,942 (GRCm39) I85T probably damaging Het
Zfp592 G T 7: 80,674,781 (GRCm39) V582L probably benign Het
Zfp827 T C 8: 79,797,071 (GRCm39) W386R probably damaging Het
Other mutations in Krt32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01089:Krt32 APN 11 99,978,605 (GRCm39) missense probably benign 0.23
IGL01454:Krt32 APN 11 99,974,907 (GRCm39) missense probably damaging 1.00
IGL02268:Krt32 APN 11 99,978,967 (GRCm39) missense probably benign 0.21
IGL02502:Krt32 APN 11 99,978,749 (GRCm39) missense probably damaging 1.00
IGL02967:Krt32 APN 11 99,974,876 (GRCm39) missense possibly damaging 0.93
IGL02799:Krt32 UTSW 11 99,978,733 (GRCm39) missense possibly damaging 0.54
R0840:Krt32 UTSW 11 99,972,068 (GRCm39) missense probably benign 0.00
R1503:Krt32 UTSW 11 99,974,936 (GRCm39) critical splice acceptor site probably null
R1944:Krt32 UTSW 11 99,975,670 (GRCm39) critical splice acceptor site probably null
R1945:Krt32 UTSW 11 99,975,670 (GRCm39) critical splice acceptor site probably null
R2426:Krt32 UTSW 11 99,977,192 (GRCm39) missense possibly damaging 0.76
R3774:Krt32 UTSW 11 99,978,947 (GRCm39) missense probably benign 0.00
R3775:Krt32 UTSW 11 99,978,947 (GRCm39) missense probably benign 0.00
R3776:Krt32 UTSW 11 99,978,947 (GRCm39) missense probably benign 0.00
R5522:Krt32 UTSW 11 99,977,497 (GRCm39) critical splice donor site probably null
R6109:Krt32 UTSW 11 99,978,791 (GRCm39) missense probably benign 0.01
R6994:Krt32 UTSW 11 99,977,271 (GRCm39) missense probably damaging 1.00
R7375:Krt32 UTSW 11 99,972,050 (GRCm39) missense probably benign 0.18
R7577:Krt32 UTSW 11 99,972,047 (GRCm39) missense probably benign 0.00
R8249:Krt32 UTSW 11 99,977,548 (GRCm39) missense probably benign 0.00
R9207:Krt32 UTSW 11 99,977,580 (GRCm39) missense possibly damaging 0.61
R9303:Krt32 UTSW 11 99,972,029 (GRCm39) missense probably benign 0.00
R9305:Krt32 UTSW 11 99,972,029 (GRCm39) missense probably benign 0.00
R9684:Krt32 UTSW 11 99,977,308 (GRCm39) missense probably damaging 1.00
Z1088:Krt32 UTSW 11 99,979,042 (GRCm39) missense probably benign
Z1177:Krt32 UTSW 11 99,974,895 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GTGGCCACCTGCTTGTTAAG -3'
(R):5'- ACTGAGGCTCTGCAGTGTTG -3'

Sequencing Primer
(F):5'- AGCTCCTCCATCTGCAGTGAAATG -3'
(R):5'- TGGCTTTGGTCCCTGAAGCC -3'
Posted On 2016-12-15