Incidental Mutation 'IGL01630:Sprr2h'
ID 92887
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sprr2h
Ensembl Gene ENSMUSG00000046259
Gene Name small proline-rich protein 2H
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.297) question?
Stock # IGL01630
Quality Score
Chromosome 3
Chromosomal Location 92385685-92387324 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92386951 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 35 (N35S)
Ref Sequence ENSEMBL: ENSMUSP00000141424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059845] [ENSMUST00000191886]
AlphaFold O70559
Predicted Effect unknown
Transcript: ENSMUST00000059845
AA Change: N107S
SMART Domains Protein: ENSMUSP00000053849
Gene: ENSMUSG00000046259
AA Change: N107S

Pfam:SPRR2 2 56 7.4e-18 PFAM
Pfam:SPRR2 51 105 2.5e-14 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000191886
AA Change: N35S
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam30 A G 3: 98,161,855 T207A possibly damaging Het
Ak8 T A 2: 28,712,279 M75K probably benign Het
Aldh1a7 A T 19: 20,696,329 probably benign Het
Ankrd34c G A 9: 89,729,826 T154I probably damaging Het
Arrb2 A G 11: 70,436,871 I120M probably damaging Het
Atp2a1 A G 7: 126,450,265 V535A probably benign Het
Cckbr G T 7: 105,434,086 W165C probably damaging Het
Col12a1 A T 9: 79,657,366 H1677Q probably damaging Het
Fancd2 T C 6: 113,563,124 F658S probably damaging Het
Gm5581 A T 6: 131,168,296 noncoding transcript Het
H2-M3 A G 17: 37,270,657 E70G possibly damaging Het
Hltf A G 3: 20,082,904 probably benign Het
Ighv1-24 C A 12: 114,773,053 V76F probably benign Het
Igkv1-110 A T 6: 68,271,161 R85W probably damaging Het
Kif9 A C 9: 110,485,070 R43S probably benign Het
Klf11 T C 12: 24,660,369 I472T probably benign Het
Napsa A G 7: 44,586,665 Y376C probably damaging Het
Notch2 C T 3: 98,146,618 A2199V possibly damaging Het
Olfr390 A G 11: 73,787,861 K308E probably benign Het
Olfr713 A T 7: 107,037,111 probably benign Het
Pcnt T A 10: 76,420,246 D720V probably damaging Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Ptk6 T C 2: 181,197,066 E298G probably damaging Het
Rbm27 T A 18: 42,301,840 L323H probably damaging Het
Sall3 A G 18: 80,971,269 L1076P probably benign Het
Susd1 T C 4: 59,365,817 D412G possibly damaging Het
Ugdh T A 5: 65,416,905 M432L probably benign Het
Uggt2 C T 14: 119,042,772 V765I probably benign Het
Unc13d T C 11: 116,073,866 Q258R probably benign Het
Wdfy3 A T 5: 101,907,488 F1572Y probably benign Het
Xpo1 A G 11: 23,285,846 T645A probably benign Het
Zer1 A G 2: 30,101,831 V659A probably damaging Het
Other mutations in Sprr2h
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1869:Sprr2h UTSW 3 92386618 start gained probably benign
R6208:Sprr2h UTSW 3 92386909 missense unknown
R8034:Sprr2h UTSW 3 92386813 missense unknown
Posted On 2013-12-09