Incidental Mutation 'N/A - 293:Sprr4'
ID48
Institutional Source Beutler Lab
Gene Symbol Sprr4
Ensembl Gene ENSMUSG00000045566
Gene Namesmall proline-rich protein 4
Synonyms
Accession Numbers

Genbank: NM_173070; MGI: 2654508

Is this an essential gene? Possibly non essential (E-score: 0.480) question?
Stock #N/A - 293 of strain aoba
Quality Score
Status Validated
Chromosome3
Chromosomal Location92500263-92500493 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 92500343 bp
ZygosityHomozygous
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]
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
Gm7271 T C 5: 76,516,492 S143P probably benign Homo
Gm7634 T A 1: 16,053,860 noncoding transcript Homo
Kras T A 6: 145,232,214 M111L probably benign Homo
Lrig1 T C 6: 94,609,087 T707A probably benign Homo
Mycbp2 A G 14: 103,224,462 probably benign Homo
Olfr13 C T 6: 43,174,559 T191I probably benign Homo
Smarcad1 T A 6: 65,074,914 F344I probably benign Homo
Zeb1 A T 18: 5,767,076 H529L possibly damaging Homo
Other mutations in Sprr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Sprr4 APN 3 92500384 missense unknown
IGL03297:Sprr4 APN 3 92500424 missense unknown
R4765:Sprr4 UTSW 3 92500409 missense unknown
R6250:Sprr4 UTSW 3 92500463 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 On2009-11-11