Incidental Mutation 'R8128:Sprr2d'
ID 631837
Institutional Source Beutler Lab
Gene Symbol Sprr2d
Ensembl Gene ENSMUSG00000042212
Gene Name small proline-rich protein 2D
Synonyms
MMRRC Submission 067557-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R8128 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 92246447-92248180 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 92247760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 67 (C67Y)
Ref Sequence ENSEMBL: ENSMUSP00000039821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047477]
AlphaFold O70555
Predicted Effect unknown
Transcript: ENSMUST00000047477
AA Change: C67Y
SMART Domains Protein: ENSMUSP00000039821
Gene: ENSMUSG00000042212
AA Change: C67Y

DomainStartEndE-ValueType
Pfam:SPRR2 2 55 6e-21 PFAM
Pfam:SPRR2 35 82 9.1e-11 PFAM
Meta Mutation Damage Score 0.1177 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.9%
  • 20x: 96.6%
Validation Efficiency 98% (42/43)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A G 5: 9,008,395 (GRCm39) R1188G probably damaging Het
Abcc5 G A 16: 20,184,473 (GRCm39) R1036C probably damaging Het
Arhgap22 T A 14: 33,089,042 (GRCm39) F508I probably benign Het
Bahcc1 C T 11: 120,163,216 (GRCm39) Q505* probably null Het
Birc6 T A 17: 74,916,253 (GRCm39) L1723Q probably damaging Het
Caprin2 A G 6: 148,784,940 (GRCm39) probably null Het
Cfap69 C A 5: 5,646,034 (GRCm39) M555I probably benign Het
Cgn C T 3: 94,676,691 (GRCm39) A773T probably benign Het
Cnot7 A G 8: 40,963,129 (GRCm39) V15A probably damaging Het
Col7a1 A G 9: 108,784,789 (GRCm39) R206G unknown Het
Dscam C A 16: 96,602,374 (GRCm39) probably null Het
Eif3k A T 7: 28,679,742 (GRCm39) probably benign Het
Epn2 G T 11: 61,413,321 (GRCm39) probably null Het
Fitm2 T C 2: 163,311,568 (GRCm39) D215G probably benign Het
Foxa3 A T 7: 18,757,341 (GRCm39) M1K probably null Het
Glyctk T C 9: 106,032,501 (GRCm39) H504R probably benign Het
Grin3b T C 10: 79,812,944 (GRCm39) L394P Het
Hgh1 A G 15: 76,254,581 (GRCm39) Y319C probably damaging Het
Hk1 T C 10: 62,117,622 (GRCm39) T635A probably benign Het
Igsf3 T A 3: 101,346,947 (GRCm39) N627K probably damaging Het
Lmtk3 G T 7: 45,443,598 (GRCm39) M760I Het
Lrp1b G A 2: 41,159,248 (GRCm39) A1678V probably null Het
Lrrc8c A T 5: 105,755,488 (GRCm39) N421I probably damaging Het
Mfsd13b C A 7: 120,590,495 (GRCm39) R79S possibly damaging Het
Or1q1 A T 2: 36,887,673 (GRCm39) M284L probably benign Het
Or5p50 A C 7: 107,422,632 (GRCm39) F15V probably damaging Het
Pappa2 T C 1: 158,764,234 (GRCm39) T426A possibly damaging Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Pkhd1l1 A T 15: 44,361,449 (GRCm39) I500F possibly damaging Het
Polr3gl T A 3: 96,487,824 (GRCm39) probably null Het
Psmg3 A G 5: 139,809,788 (GRCm39) V86A probably damaging Het
Ptgs2 T A 1: 149,977,099 (GRCm39) V102E probably damaging Het
Rhpn1 T C 15: 75,583,032 (GRCm39) probably null Het
Scand1 T C 2: 156,153,961 (GRCm39) D103G probably damaging Het
Serpinb6d T C 13: 33,850,383 (GRCm39) I70T possibly damaging Het
Slco3a1 A T 7: 73,934,049 (GRCm39) S708T probably damaging Het
Taf2 G A 15: 54,923,384 (GRCm39) R298C probably damaging Het
Trafd1 G T 5: 121,510,465 (GRCm39) P567Q possibly damaging Het
Trim32 A G 4: 65,531,682 (GRCm39) N80D probably damaging Het
Vmn1r193 A G 13: 22,403,113 (GRCm39) L293S probably damaging Het
Vmn2r12 A T 5: 109,239,747 (GRCm39) M272K possibly damaging Het
Vmn2r90 T A 17: 17,954,155 (GRCm39) L773Q probably damaging Het
Other mutations in Sprr2d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02823:Sprr2d APN 3 92,247,734 (GRCm39) nonsense probably null
R9054:Sprr2d UTSW 3 92,247,715 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CTATGTCTTACCAGCAGCAGC -3'
(R):5'- CTGTTAGGGGACATCACAGG -3'

Sequencing Primer
(F):5'- CAGCAGTGCAAGCAGCC -3'
(R):5'- TGTTAGGGGACATCACAGGAACATG -3'
Posted On 2020-06-30