Incidental Mutation 'N/A - 293:Sprr4'
ID 48
Institutional Source Beutler Lab
Gene Symbol Sprr4
Ensembl Gene ENSMUSG00000045566
Gene Name small proline-rich protein 4
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.480) question?
Stock # N/A - 293 of strain aoba
Quality Score
Status Validated
Chromosome 3
Chromosomal Location 92407570-92407800 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 92407650 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change Glutamine to Stop codon at position 51 (Q51*)
Ref Sequence ENSEMBL: ENSMUSP00000051559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062129]
AlphaFold Q8CGN8
Predicted Effect probably null
Transcript: ENSMUST00000062129
AA Change: Q51*
SMART Domains Protein: ENSMUSP00000051559
Gene: ENSMUSG00000045566
AA Change: Q51*

DomainStartEndE-ValueType
low complexity region 5 33 N/A INTRINSIC
Meta Mutation Damage Score 0.9660 question?
Coding Region Coverage
  • 1x: 88.4%
  • 3x: 74.0%
Validation Efficiency 85% (165/193)
Allele List at MGI
Other mutations in this stock
Total: 8 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Exoc1l T C 5: 76,664,339 (GRCm39) S143P probably benign Homo
Gm7634 T A 1: 16,124,084 (GRCm39) noncoding transcript Homo
Kras T A 6: 145,177,940 (GRCm39) M111L probably benign Homo
Lrig1 T C 6: 94,586,068 (GRCm39) T707A probably benign Homo
Mycbp2 A G 14: 103,461,898 (GRCm39) probably benign Homo
Or2a7 C T 6: 43,151,493 (GRCm39) T191I probably benign Homo
Smarcad1 T A 6: 65,051,898 (GRCm39) F344I probably benign Homo
Zeb1 A T 18: 5,767,076 (GRCm39) H529L possibly damaging Homo
Other mutations in Sprr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Sprr4 APN 3 92,407,691 (GRCm39) missense unknown
IGL03297:Sprr4 APN 3 92,407,731 (GRCm39) missense unknown
R4765:Sprr4 UTSW 3 92,407,716 (GRCm39) missense unknown
R6250:Sprr4 UTSW 3 92,407,770 (GRCm39) missense unknown
Nature of Mutation

DNA sequencing using the SOLiD technique identified a C to T transition at position 151 of the Sprr4 transcript. The mutated nucleotide creates a premature stop codon at amino acid 51 (normally a glutamine) deleting 26 amino acids from the C-terminus of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction
Sprr4 encodes a 76 amino acid protein known as small proline-rich protein 4, with evidence at the transcript level.  The protein belongs to the cornifin family, which are strongly induced during keratinocyte differentiation and are involved in UV-induced cornification (Uniprot Q8CGN8). 
Posted On 2009-11-11