Incidental Mutation 'R5476:Spata2'
ID 434069
Institutional Source Beutler Lab
Gene Symbol Spata2
Ensembl Gene ENSMUSG00000047030
Gene Name spermatogenesis associated 2
Synonyms
MMRRC Submission 043037-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5476 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 167323053-167334804 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 167326079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 247 (S247T)
Ref Sequence ENSEMBL: ENSMUSP00000104834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057627] [ENSMUST00000109211]
AlphaFold Q8K004
Predicted Effect probably damaging
Transcript: ENSMUST00000057627
AA Change: S247T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000057095
Gene: ENSMUSG00000047030
AA Change: S247T

DomainStartEndE-ValueType
low complexity region 66 79 N/A INTRINSIC
low complexity region 288 299 N/A INTRINSIC
low complexity region 306 318 N/A INTRINSIC
low complexity region 399 412 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109211
AA Change: S247T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104834
Gene: ENSMUSG00000047030
AA Change: S247T

DomainStartEndE-ValueType
low complexity region 66 79 N/A INTRINSIC
low complexity region 288 299 N/A INTRINSIC
low complexity region 306 318 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126389
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155875
Coding Region Coverage
  • 1x: 98.4%
  • 3x: 97.4%
  • 10x: 95.5%
  • 20x: 91.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous knockout leads to small testes, oligospermia, asthenozoospermia, reduced male fertility and decreased male germ cell numbers. It also affects necroptosis and increases inflammatory responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh16a1 T G 7: 44,791,493 (GRCm39) N71H possibly damaging Het
Alg5 T A 3: 54,654,019 (GRCm39) S252T probably benign Het
Arhgap21 T C 2: 20,885,497 (GRCm39) N560S probably benign Het
Ccdc96 A G 5: 36,642,981 (GRCm39) D329G possibly damaging Het
Cep128 T C 12: 91,180,392 (GRCm39) E917G probably damaging Het
Cpox G C 16: 58,499,088 (GRCm39) V434L probably damaging Het
D5Ertd579e G T 5: 36,772,601 (GRCm39) S598Y probably damaging Het
Ddx6 A G 9: 44,518,753 (GRCm39) R22G possibly damaging Het
Dgcr8 A T 16: 18,077,843 (GRCm39) Y597N probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dock5 T C 14: 68,051,456 (GRCm39) D671G possibly damaging Het
Dock6 A G 9: 21,720,885 (GRCm39) S1707P probably damaging Het
Dop1b A G 16: 93,570,801 (GRCm39) probably null Het
Faim A G 9: 98,874,782 (GRCm39) R110G probably damaging Het
Grm4 A G 17: 27,653,772 (GRCm39) V726A probably benign Het
Hps1 T C 19: 42,758,041 (GRCm39) probably null Het
Lefty1 T C 1: 180,765,263 (GRCm39) M277T probably benign Het
Mmp9 A G 2: 164,794,414 (GRCm39) M469V probably benign Het
Mroh4 A T 15: 74,483,510 (GRCm39) I609N probably benign Het
Myl6b C T 10: 128,333,216 (GRCm39) probably benign Het
Nt5m A G 11: 59,766,733 (GRCm39) D208G probably damaging Het
Pard3b G T 1: 62,049,565 (GRCm39) V108L probably benign Het
Pbp2 A G 6: 135,286,922 (GRCm39) S142P probably benign Het
Pbrm1 T A 14: 30,754,476 (GRCm39) D165E probably benign Het
Pde4b A G 4: 102,459,896 (GRCm39) K577R probably benign Het
Phf21b A G 15: 84,671,466 (GRCm39) M476T probably benign Het
Prr14l T C 5: 33,001,482 (GRCm39) probably benign Het
Ralgapa2 A G 2: 146,289,356 (GRCm39) V282A probably benign Het
Rif1 A G 2: 51,979,607 (GRCm39) I430V probably damaging Het
Slc25a12 A G 2: 71,105,666 (GRCm39) S623P probably benign Het
Smc1b A T 15: 84,970,352 (GRCm39) I967N probably damaging Het
Snx13 A G 12: 35,156,819 (GRCm39) probably null Het
Stpg2 T A 3: 138,948,899 (GRCm39) Y232N probably benign Het
Tor3a G T 1: 156,501,137 (GRCm39) S100R possibly damaging Het
Trappc8 A G 18: 20,998,165 (GRCm39) F385S probably damaging Het
Uggt2 T A 14: 119,328,121 (GRCm39) T134S probably benign Het
Vmn1r175 C T 7: 23,508,556 (GRCm39) V24I possibly damaging Het
Wdr1 C T 5: 38,686,931 (GRCm39) G278S probably damaging Het
Zfp157 T G 5: 138,455,443 (GRCm39) V547G possibly damaging Het
Zfp442 A T 2: 150,250,079 (GRCm39) C551S probably damaging Het
Other mutations in Spata2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01538:Spata2 APN 2 167,326,071 (GRCm39) missense probably damaging 1.00
IGL01565:Spata2 APN 2 167,326,214 (GRCm39) missense probably damaging 0.96
IGL02661:Spata2 APN 2 167,325,281 (GRCm39) missense probably damaging 1.00
R0402:Spata2 UTSW 2 167,325,580 (GRCm39) missense probably benign
R1023:Spata2 UTSW 2 167,327,142 (GRCm39) missense probably benign
R1672:Spata2 UTSW 2 167,325,439 (GRCm39) missense probably damaging 1.00
R1989:Spata2 UTSW 2 167,326,234 (GRCm39) missense possibly damaging 0.93
R2343:Spata2 UTSW 2 167,325,280 (GRCm39) missense probably damaging 1.00
R2422:Spata2 UTSW 2 167,326,126 (GRCm39) missense probably damaging 1.00
R5156:Spata2 UTSW 2 167,325,494 (GRCm39) missense probably damaging 0.96
R6326:Spata2 UTSW 2 167,326,094 (GRCm39) missense possibly damaging 0.47
R7038:Spata2 UTSW 2 167,327,283 (GRCm39) missense possibly damaging 0.56
R7954:Spata2 UTSW 2 167,325,857 (GRCm39) missense probably benign 0.00
R8557:Spata2 UTSW 2 167,326,227 (GRCm39) missense probably damaging 1.00
R9459:Spata2 UTSW 2 167,327,205 (GRCm39) missense probably benign 0.35
X0024:Spata2 UTSW 2 167,326,366 (GRCm39) missense possibly damaging 0.62
Z1177:Spata2 UTSW 2 167,325,503 (GRCm39) missense probably benign 0.01
Z1177:Spata2 UTSW 2 167,325,451 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGGTCATCAGGGCTACCATGG -3'
(R):5'- TTGAGCTCTTCCTGGCCAAG -3'

Sequencing Primer
(F):5'- GGGGGAGCTGGACATGGC -3'
(R):5'- ATCCACTCGCAGGTGAAGGAC -3'
Posted On 2016-10-06