Incidental Mutation 'R4225:Stpg2'
ID 319995
Institutional Source Beutler Lab
Gene Symbol Stpg2
Ensembl Gene ENSMUSG00000047940
Gene Name sperm tail PG rich repeat containing 2
Synonyms LOC381476, B930007M17Rik
MMRRC Submission 041045-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R4225 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 138910953-139415185 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 138921053 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 86 (R86Q)
Ref Sequence ENSEMBL: ENSMUSP00000101846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062306] [ENSMUST00000106239]
AlphaFold Q8C8J0
Predicted Effect probably damaging
Transcript: ENSMUST00000062306
AA Change: R86Q

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000051539
Gene: ENSMUSG00000047940
AA Change: R86Q

DomainStartEndE-ValueType
Pfam:SHIPPO-rpt 20 50 1.1e1 PFAM
Pfam:SHIPPO-rpt 62 92 1.3e1 PFAM
Pfam:SHIPPO-rpt 97 127 9.1e1 PFAM
Pfam:SHIPPO-rpt 162 193 1.3e2 PFAM
Pfam:SHIPPO-rpt 200 235 1.7e0 PFAM
Pfam:SHIPPO-rpt 249 285 1.2e-2 PFAM
Pfam:SHIPPO-rpt 292 315 3.2e1 PFAM
Pfam:SHIPPO-rpt 334 371 2.1e0 PFAM
Pfam:SHIPPO-rpt 421 462 3.8e0 PFAM
Pfam:SHIPPO-rpt 471 497 2.9e1 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106239
AA Change: R86Q

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101846
Gene: ENSMUSG00000047940
AA Change: R86Q

DomainStartEndE-ValueType
Pfam:SHIPPO-rpt 200 220 6.9e-1 PFAM
Pfam:SHIPPO-rpt 249 285 8.8e-2 PFAM
Pfam:SHIPPO-rpt 334 371 5.4e-2 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 100% (38/38)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,085,106 (GRCm39) I569V possibly damaging Het
Aif1l A T 2: 31,852,251 (GRCm39) S40C probably damaging Het
Arhgef26 A G 3: 62,288,343 (GRCm39) D471G probably benign Het
Atp2a2 A G 5: 122,607,789 (GRCm39) V240A probably benign Het
Bsn A G 9: 107,983,932 (GRCm39) M3374T unknown Het
Ccdc66 A G 14: 27,212,736 (GRCm39) L529P probably damaging Het
Ctif A G 18: 75,568,308 (GRCm39) I610T probably benign Het
Ecpas A T 4: 58,847,027 (GRCm39) Y512N probably damaging Het
Eif3c C G 7: 126,165,471 (GRCm39) probably benign Het
Esyt1 T C 10: 128,356,517 (GRCm39) Y376C probably damaging Het
Gba2 A T 4: 43,569,464 (GRCm39) probably benign Het
Grin1 T C 2: 25,187,332 (GRCm39) probably benign Het
Herc2 A G 7: 55,814,735 (GRCm39) E2696G probably damaging Het
Itgal A T 7: 126,904,484 (GRCm39) K319M probably damaging Het
Lama3 T C 18: 12,583,460 (GRCm39) C683R probably damaging Het
Lrig1 T A 6: 94,599,639 (GRCm39) I348F probably damaging Het
Mc3r G A 2: 172,090,954 (GRCm39) V59M probably damaging Het
Msh3 T C 13: 92,422,431 (GRCm39) K575R probably benign Het
Musk A T 4: 58,373,240 (GRCm39) M714L probably damaging Het
Odad2 A G 18: 7,181,732 (GRCm39) probably null Het
Pcdhgb7 T A 18: 37,886,856 (GRCm39) D675E probably benign Het
Pkd1 T C 17: 24,812,497 (GRCm39) I3810T possibly damaging Het
Pou2f1 T C 1: 165,738,889 (GRCm39) I177V possibly damaging Het
Rb1 T C 14: 73,506,631 (GRCm39) M373V possibly damaging Het
Ric1 A G 19: 29,580,131 (GRCm39) N1311D possibly damaging Het
Scn3a A G 2: 65,366,771 (GRCm39) Y84H probably damaging Het
Slc25a45 A T 19: 5,930,146 (GRCm39) I39F probably damaging Het
Slc8a1 A G 17: 81,956,781 (GRCm39) F86L probably damaging Het
Spdya G A 17: 71,869,519 (GRCm39) V105I probably benign Het
Sspo G T 6: 48,428,091 (GRCm39) V313L possibly damaging Het
Stard9 A G 2: 120,495,472 (GRCm39) T116A possibly damaging Het
Tdrd6 C T 17: 43,936,864 (GRCm39) D1395N probably damaging Het
Vmn2r101 T A 17: 19,831,951 (GRCm39) I649N probably damaging Het
Zcchc18 A T X: 135,895,415 (GRCm39) N10I probably damaging Het
Other mutations in Stpg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01346:Stpg2 APN 3 139,125,635 (GRCm39) splice site probably benign
IGL01505:Stpg2 APN 3 139,023,214 (GRCm39) missense probably benign 0.02
IGL01649:Stpg2 APN 3 139,125,623 (GRCm39) missense probably damaging 1.00
IGL03264:Stpg2 APN 3 139,014,970 (GRCm39) missense possibly damaging 0.72
PIT4687001:Stpg2 UTSW 3 138,921,026 (GRCm39) missense possibly damaging 0.89
R0053:Stpg2 UTSW 3 138,918,082 (GRCm39) missense probably benign 0.00
R0099:Stpg2 UTSW 3 138,948,954 (GRCm39) splice site probably benign
R0417:Stpg2 UTSW 3 138,924,082 (GRCm39) missense probably damaging 1.00
R1646:Stpg2 UTSW 3 139,125,463 (GRCm39) splice site probably benign
R1719:Stpg2 UTSW 3 138,937,960 (GRCm39) missense probably benign 0.11
R1791:Stpg2 UTSW 3 139,023,162 (GRCm39) missense probably benign 0.00
R1799:Stpg2 UTSW 3 139,125,542 (GRCm39) missense probably damaging 1.00
R1912:Stpg2 UTSW 3 139,228,742 (GRCm39) splice site probably null
R1974:Stpg2 UTSW 3 139,014,944 (GRCm39) nonsense probably null
R3725:Stpg2 UTSW 3 139,023,238 (GRCm39) missense probably benign 0.00
R3727:Stpg2 UTSW 3 139,004,257 (GRCm39) missense probably damaging 1.00
R4694:Stpg2 UTSW 3 139,023,177 (GRCm39) missense possibly damaging 0.94
R4698:Stpg2 UTSW 3 139,014,990 (GRCm39) missense probably damaging 1.00
R4879:Stpg2 UTSW 3 138,921,134 (GRCm39) missense probably benign 0.03
R5236:Stpg2 UTSW 3 138,937,984 (GRCm39) missense probably damaging 1.00
R5476:Stpg2 UTSW 3 138,948,899 (GRCm39) missense probably benign 0.03
R5567:Stpg2 UTSW 3 139,125,547 (GRCm39) missense probably benign 0.22
R6297:Stpg2 UTSW 3 139,407,432 (GRCm39) missense possibly damaging 0.91
R6692:Stpg2 UTSW 3 139,228,738 (GRCm39) critical splice donor site probably null
R7113:Stpg2 UTSW 3 139,407,535 (GRCm39) critical splice donor site probably null
R7154:Stpg2 UTSW 3 138,921,056 (GRCm39) missense probably benign 0.44
R7553:Stpg2 UTSW 3 138,924,098 (GRCm39) missense probably damaging 1.00
R7660:Stpg2 UTSW 3 139,407,458 (GRCm39) missense probably damaging 0.98
R8105:Stpg2 UTSW 3 138,948,925 (GRCm39) missense probably damaging 1.00
R8154:Stpg2 UTSW 3 139,014,938 (GRCm39) missense probably damaging 1.00
R8902:Stpg2 UTSW 3 139,004,170 (GRCm39) missense probably damaging 1.00
R9165:Stpg2 UTSW 3 139,014,993 (GRCm39) missense possibly damaging 0.57
RF021:Stpg2 UTSW 3 138,918,011 (GRCm39) critical splice acceptor site probably null
X0009:Stpg2 UTSW 3 139,004,223 (GRCm39) missense probably benign 0.00
X0018:Stpg2 UTSW 3 138,948,851 (GRCm39) missense probably benign 0.44
Z1176:Stpg2 UTSW 3 139,407,401 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGGTATGAGCTTAGAGTCAAAACTG -3'
(R):5'- CATCAAACACACTGCTTAGGATTTC -3'

Sequencing Primer
(F):5'- AACTTGGGGTCTCAGCT -3'
(R):5'- GTGACACACTGCAGATGT -3'
Posted On 2015-06-12