Incidental Mutation 'R7272:Sspn'
ID 565350
Institutional Source Beutler Lab
Gene Symbol Sspn
Ensembl Gene ENSMUSG00000030255
Gene Name sarcospan
Synonyms Krag
MMRRC Submission 045391-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7272 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 145877367-145910949 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 145907200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 210 (D210E)
Ref Sequence ENSEMBL: ENSMUSP00000032383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032383] [ENSMUST00000111701] [ENSMUST00000111702]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000032383
AA Change: D210E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032383
Gene: ENSMUSG00000030255
AA Change: D210E

DomainStartEndE-ValueType
Pfam:CD20 28 183 1.3e-31 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111701
AA Change: D134E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107330
Gene: ENSMUSG00000030255
AA Change: D134E

DomainStartEndE-ValueType
Pfam:CD20 4 124 1.4e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111702
AA Change: D134E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107331
Gene: ENSMUSG00000030255
AA Change: D134E

DomainStartEndE-ValueType
Pfam:CD20 4 124 1.4e-11 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (55/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the dystrophin-glycoprotein complex (DGC). The DGC spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Two alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal muscle histology and physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,471,655 (GRCm39) I1020T probably benign Het
2310057N15Rik A T 16: 88,570,523 (GRCm39) Y172* probably null Het
4930558K02Rik T A 1: 161,770,092 (GRCm39) Y139F possibly damaging Het
A830018L16Rik T G 1: 11,658,695 (GRCm39) M202R probably damaging Het
Abca12 T C 1: 71,287,591 (GRCm39) E2450G probably damaging Het
Ank2 C T 3: 126,736,782 (GRCm39) R3034H unknown Het
Anxa9 A G 3: 95,213,184 (GRCm39) I54T probably damaging Het
Ash1l A G 3: 88,961,941 (GRCm39) probably null Het
Aspm T C 1: 139,386,066 (GRCm39) I570T probably benign Het
Bcar3 A T 3: 122,302,045 (GRCm39) I247F possibly damaging Het
Cep350 A G 1: 155,829,334 (GRCm39) V130A probably damaging Het
Cep89 A T 7: 35,137,888 (GRCm39) R757S probably benign Het
Cryga A T 1: 65,142,381 (GRCm39) I4N probably damaging Het
Cyp2d26 T A 15: 82,676,764 (GRCm39) Y194F probably benign Het
Edn2 G A 4: 120,019,143 (GRCm39) R44H probably damaging Het
Ep400 G A 5: 110,903,511 (GRCm39) Q363* probably null Het
Gpr33 T C 12: 52,070,848 (GRCm39) T64A probably damaging Het
Ice2 T A 9: 69,324,365 (GRCm39) S763T possibly damaging Het
Itgad C A 7: 127,804,245 (GRCm39) F1169L probably damaging Het
Kcnv1 A G 15: 44,976,576 (GRCm39) L237P probably benign Het
Kctd18 T C 1: 57,995,710 (GRCm39) E356G probably damaging Het
Krt33a C T 11: 99,902,837 (GRCm39) R329Q probably damaging Het
Lama2 C A 10: 27,000,552 (GRCm39) G1657C probably damaging Het
Marchf3 T G 18: 56,895,593 (GRCm39) R217S probably benign Het
Mmel1 A T 4: 154,978,547 (GRCm39) T660S probably damaging Het
Ms4a7 T A 19: 11,310,642 (GRCm39) K59* probably null Het
Mss51 G A 14: 20,534,981 (GRCm39) T263I probably damaging Het
Ncaph2 A G 15: 89,248,385 (GRCm39) M199V probably benign Het
Ndufa4 G A 6: 11,905,209 (GRCm39) Q62* probably null Het
Nectin4 A G 1: 171,214,212 (GRCm39) T456A probably damaging Het
Nek1 T C 8: 61,578,120 (GRCm39) M1214T probably benign Het
Nsf T A 11: 103,718,064 (GRCm39) L710F probably damaging Het
Nynrin G T 14: 56,107,872 (GRCm39) G993V probably damaging Het
Or1e31 T A 11: 73,689,695 (GRCm39) D296V probably damaging Het
Pbk T A 14: 66,052,621 (GRCm39) Y155N probably damaging Het
Plec T C 15: 76,059,153 (GRCm39) I3595V possibly damaging Het
Pom121 G A 5: 135,409,941 (GRCm39) T1072I unknown Het
Sdc1 T A 12: 8,840,554 (GRCm39) H106Q probably benign Het
Slc44a3 T C 3: 121,254,764 (GRCm39) D618G probably damaging Het
Slc9c1 A G 16: 45,401,878 (GRCm39) D755G possibly damaging Het
Slfn9 T C 11: 82,872,387 (GRCm39) Y783C probably benign Het
Sorl1 C T 9: 41,975,006 (GRCm39) probably null Het
Spindoc C T 19: 7,360,085 (GRCm39) E28K possibly damaging Het
Sptbn1 T C 11: 30,064,859 (GRCm39) D1880G possibly damaging Het
Stx12 A T 4: 132,584,687 (GRCm39) I219K possibly damaging Het
Syne2 T C 12: 76,095,417 (GRCm39) V508A probably benign Het
Tkt G T 14: 30,287,564 (GRCm39) R186L probably damaging Het
Trmt10a T A 3: 137,860,527 (GRCm39) M241K probably damaging Het
Vgll2 C A 10: 51,903,758 (GRCm39) A207E possibly damaging Het
Vmn1r114 A G 7: 20,545,543 (GRCm39) F190S probably damaging Het
Xpot C T 10: 121,453,094 (GRCm39) probably null Het
Yrdc G A 4: 124,744,820 (GRCm39) A85T probably benign Het
Zfp385c C T 11: 100,520,865 (GRCm39) R265K possibly damaging Het
Zgrf1 A T 3: 127,392,409 (GRCm39) I1310F probably damaging Het
Other mutations in Sspn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02218:Sspn APN 6 145,907,112 (GRCm39) missense probably damaging 1.00
R0634:Sspn UTSW 6 145,906,877 (GRCm39) missense possibly damaging 0.68
R3114:Sspn UTSW 6 145,880,095 (GRCm39) missense possibly damaging 0.91
R3943:Sspn UTSW 6 145,880,083 (GRCm39) missense probably damaging 1.00
R4520:Sspn UTSW 6 145,907,033 (GRCm39) missense probably benign 0.00
R5623:Sspn UTSW 6 145,906,952 (GRCm39) missense probably damaging 1.00
R7144:Sspn UTSW 6 145,906,881 (GRCm39) missense probably damaging 1.00
R8112:Sspn UTSW 6 145,901,361 (GRCm39) missense possibly damaging 0.77
R9582:Sspn UTSW 6 145,899,334 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- ACTGACTGTACCAGCGTCAC -3'
(R):5'- GATTCTCTAAATCACGCGTGTGC -3'

Sequencing Primer
(F):5'- AGCGTCACTGGCACTTTCAAATTG -3'
(R):5'- ACTGTGAGCCACTGAACTTG -3'
Posted On 2019-06-26