Incidental Mutation 'R6138:Spmap2'
ID 488453
Institutional Source Beutler Lab
Gene Symbol Spmap2
Ensembl Gene ENSMUSG00000020317
Gene Name sperm microtubule associated protein 2
Synonyms Theg
MMRRC Submission 044285-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6138 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 79412311-79422970 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79420589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 159 (S159P)
Ref Sequence ENSEMBL: ENSMUSP00000076647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020566] [ENSMUST00000077433]
AlphaFold Q9JMB1
Predicted Effect probably damaging
Transcript: ENSMUST00000020566
AA Change: S183P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020566
Gene: ENSMUSG00000020317
AA Change: S183P

DomainStartEndE-ValueType
THEG 9 28 1.68e2 SMART
low complexity region 58 73 N/A INTRINSIC
THEG 110 129 2.22e-2 SMART
THEG 176 195 4.69e-1 SMART
THEG 214 233 9.16e-4 SMART
THEG 250 269 7.22e-2 SMART
THEG 282 301 2.31e0 SMART
THEG 318 337 4.45e-2 SMART
THEG 352 371 1.96e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000077433
AA Change: S159P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076647
Gene: ENSMUSG00000020317
AA Change: S159P

DomainStartEndE-ValueType
THEG 9 28 6.2e-1 SMART
low complexity region 58 73 N/A INTRINSIC
THEG 110 129 7.8e-5 SMART
THEG 152 171 1.7e-3 SMART
THEG 190 209 3.3e-6 SMART
THEG 226 245 2.5e-4 SMART
THEG 258 277 8.3e-3 SMART
THEG 294 313 1.6e-4 SMART
THEG 328 347 7e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159782
Meta Mutation Damage Score 0.1892 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 100% (31/31)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is specifically expressed in the nucleus of haploid male germ cells. The orthologous gene in mice encodes a protein that may play a role in protein assembly through interactions with T-complex protein 1 subunit epsilon. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Males homozygotes for a transgenic insertional mutation are sterile due to a block in spermiogenesis. Testis weights are reduced, and mutants exhibit multiple abnormalities in elongated spermatids in the seminiferous tubule lumen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
6820408C15Rik T C 2: 152,282,790 (GRCm39) V215A probably damaging Het
Abhd14a A T 9: 106,321,065 (GRCm39) S97T possibly damaging Het
Adamts2 T A 11: 50,647,533 (GRCm39) I302N probably damaging Het
Adgra2 G A 8: 27,604,457 (GRCm39) A511T probably damaging Het
Akap9 T C 5: 4,117,924 (GRCm39) probably null Het
Ccr6 G A 17: 8,475,214 (GRCm39) V140I probably damaging Het
Dlat A T 9: 50,556,417 (GRCm39) probably null Het
Gcg A G 2: 62,306,148 (GRCm39) S150P probably damaging Het
Gk5 C T 9: 96,058,290 (GRCm39) Q424* probably null Het
Insm2 T C 12: 55,646,799 (GRCm39) I181T probably damaging Het
Itgae A G 11: 73,006,400 (GRCm39) E356G possibly damaging Het
Kitl G A 10: 99,912,768 (GRCm39) probably null Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Myo3b T C 2: 70,069,243 (GRCm39) V494A possibly damaging Het
Myo7a C T 7: 97,714,997 (GRCm39) W1558* probably null Het
Or1ak2 G A 2: 36,827,241 (GRCm39) V37I probably benign Het
Or5p81 T A 7: 108,267,412 (GRCm39) V263E probably damaging Het
Pgk1 C A X: 105,238,098 (GRCm39) L85I possibly damaging Het
Pik3c2b G A 1: 133,002,365 (GRCm39) probably null Het
Plagl1 G A 10: 13,003,490 (GRCm39) G253R probably damaging Het
Ppp4r1 G A 17: 66,121,343 (GRCm39) V268I possibly damaging Het
Pramel27 T G 4: 143,578,155 (GRCm39) H87Q possibly damaging Het
Satl1 T C X: 111,315,613 (GRCm39) T281A probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Synrg A G 11: 83,915,126 (GRCm39) E1044G probably damaging Het
Tbx5 T C 5: 120,021,211 (GRCm39) S406P probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Vmn2r79 T A 7: 86,653,319 (GRCm39) V528D possibly damaging Het
Other mutations in Spmap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Spmap2 APN 10 79,412,433 (GRCm39) missense probably damaging 0.99
IGL02013:Spmap2 APN 10 79,415,769 (GRCm39) splice site probably null
R0087:Spmap2 UTSW 10 79,421,785 (GRCm39) nonsense probably null
R1035:Spmap2 UTSW 10 79,419,684 (GRCm39) missense probably damaging 1.00
R4133:Spmap2 UTSW 10 79,415,884 (GRCm39) missense probably damaging 0.97
R5960:Spmap2 UTSW 10 79,421,765 (GRCm39) missense possibly damaging 0.76
R5971:Spmap2 UTSW 10 79,420,589 (GRCm39) missense probably damaging 1.00
R6067:Spmap2 UTSW 10 79,420,589 (GRCm39) missense probably damaging 1.00
R6357:Spmap2 UTSW 10 79,422,789 (GRCm39) missense probably benign 0.28
R7046:Spmap2 UTSW 10 79,422,796 (GRCm39) missense probably benign 0.35
R7117:Spmap2 UTSW 10 79,420,741 (GRCm39) splice site probably null
R7463:Spmap2 UTSW 10 79,412,549 (GRCm39) missense probably damaging 0.99
R8441:Spmap2 UTSW 10 79,412,510 (GRCm39) missense probably damaging 1.00
R8739:Spmap2 UTSW 10 79,419,581 (GRCm39) missense possibly damaging 0.80
R8883:Spmap2 UTSW 10 79,412,474 (GRCm39) missense probably benign 0.10
R9060:Spmap2 UTSW 10 79,420,571 (GRCm39) missense probably damaging 1.00
U15987:Spmap2 UTSW 10 79,420,589 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGACTGCTAAGGGACATTGG -3'
(R):5'- GCCTCTTAGGTTTAACCATGGGG -3'

Sequencing Primer
(F):5'- GACATTGGCTAGACCTCTTGAGAC -3'
(R):5'- GGAAGGAGCCAGTCTTGTC -3'
Posted On 2017-10-10