Incidental Mutation 'R3725:Stpg2'
ID 270721
Institutional Source Beutler Lab
Gene Symbol Stpg2
Ensembl Gene ENSMUSG00000047940
Gene Name sperm tail PG rich repeat containing 2
Synonyms LOC381476, B930007M17Rik
MMRRC Submission 040716-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R3725 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 138910953-139415185 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 139023238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 418 (K418R)
Ref Sequence ENSEMBL: ENSMUSP00000101846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062306] [ENSMUST00000106239]
AlphaFold Q8C8J0
Predicted Effect probably benign
Transcript: ENSMUST00000062306
AA Change: K418R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000051539
Gene: ENSMUSG00000047940
AA Change: K418R

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 benign
Transcript: ENSMUST00000106239
AA Change: K418R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000101846
Gene: ENSMUSG00000047940
AA Change: K418R

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 96% (55/57)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 T A 7: 139,563,781 (GRCm39) R740S possibly damaging Het
Adamtsl3 A C 7: 82,261,612 (GRCm39) D1676A possibly damaging Het
Atp6v1a A G 16: 43,922,120 (GRCm39) probably benign Het
Camsap3 T C 8: 3,653,785 (GRCm39) L485P probably damaging Het
Ccdc81 A T 7: 89,515,838 (GRCm39) F614I possibly damaging Het
Cdk5rap2 C A 4: 70,153,674 (GRCm39) K1716N possibly damaging Het
Cfap47 T A X: 78,553,621 (GRCm39) T285S probably damaging Het
Cfh T C 1: 140,014,234 (GRCm39) M1197V probably damaging Het
Cyp3a11 A G 5: 145,802,810 (GRCm39) F228L probably benign Het
Ddx24 A G 12: 103,383,864 (GRCm39) M575T probably benign Het
Dhx36 A T 3: 62,395,643 (GRCm39) probably benign Het
Dmxl2 T A 9: 54,301,053 (GRCm39) I1554L probably damaging Het
Dsp A G 13: 38,378,665 (GRCm39) probably null Het
Dsp A G 13: 38,381,594 (GRCm39) S2181G probably benign Het
Epg5 T C 18: 78,060,894 (GRCm39) I1959T probably benign Het
Fam135a T A 1: 24,096,515 (GRCm39) K77* probably null Het
Fam209 T C 2: 172,315,915 (GRCm39) S97P probably benign Het
Fbxo11 A G 17: 88,316,714 (GRCm39) V323A probably benign Het
Fzd5 A G 1: 64,775,498 (GRCm39) S88P probably damaging Het
Galnt12 A T 4: 47,104,140 (GRCm39) T133S probably damaging Het
Gja8 A G 3: 96,827,161 (GRCm39) L167P probably damaging Het
Gm8730 T C 8: 103,591,664 (GRCm39) noncoding transcript Het
Gsdmd A G 15: 75,737,939 (GRCm39) D247G probably benign Het
Iqcg A G 16: 32,840,909 (GRCm39) probably null Het
Lamb1 C T 12: 31,371,074 (GRCm39) A1375V probably null Het
Mlip A G 9: 77,097,662 (GRCm39) S282P probably damaging Het
Nfxl1 A T 5: 72,674,405 (GRCm39) D831E probably damaging Het
Nipbl T C 15: 8,325,145 (GRCm39) D2506G probably damaging Het
Or6c212 A T 10: 129,558,984 (GRCm39) V143D probably damaging Het
Or7a39 T A 10: 78,715,766 (GRCm39) Y253* probably null Het
Pcdhb9 T C 18: 37,534,654 (GRCm39) L216P possibly damaging Het
Pigc G A 1: 161,798,860 (GRCm39) G281R possibly damaging Het
Polr3g C T 13: 81,842,754 (GRCm39) R87H probably damaging Het
Ppfia4 T C 1: 134,241,449 (GRCm39) D502G probably benign Het
Psg18 T A 7: 18,088,748 (GRCm39) probably benign Het
Rad9a G A 19: 4,247,694 (GRCm39) R179C probably damaging Het
Rxra A G 2: 27,644,289 (GRCm39) D327G probably damaging Het
Samd7 T C 3: 30,805,283 (GRCm39) V22A possibly damaging Het
Slc22a29 A T 19: 8,195,973 (GRCm39) V22D possibly damaging Het
Slmap C A 14: 26,148,397 (GRCm39) R671S probably damaging Het
Smarcal1 T C 1: 72,665,755 (GRCm39) F751S possibly damaging Het
Smarcb1 T A 10: 75,752,620 (GRCm39) K73N probably benign Het
Sptssa T C 12: 54,703,180 (GRCm39) E30G probably damaging Het
Tasor2 T C 13: 3,640,538 (GRCm39) I200V probably benign Het
Tmem19 A G 10: 115,195,675 (GRCm39) probably benign Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmod1 T C 4: 46,097,026 (GRCm39) V273A probably benign Het
Tnrc6c C T 11: 117,614,355 (GRCm39) R838W probably damaging Het
Uggt1 A T 1: 36,221,588 (GRCm39) L43* probably null Het
Vmn1r205 A T 13: 22,776,671 (GRCm39) F144I probably damaging Het
Vmn2r54 G A 7: 12,366,223 (GRCm39) T237I probably benign Het
Vmn2r7 A T 3: 64,632,412 (GRCm39) F17I possibly damaging Het
Vpreb3 G A 10: 75,779,125 (GRCm39) probably null Het
Vps13d T A 4: 144,842,218 (GRCm39) probably benign Het
Zkscan5 A T 5: 145,157,723 (GRCm39) R742W 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
R3727:Stpg2 UTSW 3 139,004,257 (GRCm39) missense probably damaging 1.00
R4225:Stpg2 UTSW 3 138,921,053 (GRCm39) missense probably damaging 0.97
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'- GAGCAATATTACCAAGCTTCATTGC -3'
(R):5'- GACTCTACAAGCTCCATGTAACATG -3'

Sequencing Primer
(F):5'- ACCAAGCTTCATTGCAAGTATATTG -3'
(R):5'- CATGGTCTCTTACAGCAATGTG -3'
Posted On 2015-03-18