Incidental Mutation 'R5812:Speer2'
ID 447576
Institutional Source Beutler Lab
Gene Symbol Speer2
Ensembl Gene ENSMUSG00000063163
Gene Name spermatogenesis associated glutamate (E)-rich protein 2
Synonyms SPEER-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R5812 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 69856874-69863744 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 69858895 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 14 (R14S)
Ref Sequence ENSEMBL: ENSMUSP00000130270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076500] [ENSMUST00000164146] [ENSMUST00000166256]
AlphaFold E9Q9U2
Predicted Effect possibly damaging
Transcript: ENSMUST00000076500
AA Change: R103S

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000075821
Gene: ENSMUSG00000063163
AA Change: R103S

DomainStartEndE-ValueType
Pfam:Takusan 51 137 6.3e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164146
SMART Domains Protein: ENSMUSP00000126059
Gene: ENSMUSG00000063163

DomainStartEndE-ValueType
Pfam:Takusan 33 121 1.9e-33 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000166256
AA Change: R14S

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000130270
Gene: ENSMUSG00000063163
AA Change: R14S

DomainStartEndE-ValueType
Pfam:Takusan 1 49 2.3e-14 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik A G 3: 138,176,538 (GRCm38) S9P probably damaging Het
Acsl5 G A 19: 55,294,836 (GRCm38) V615I probably benign Het
Ankk1 T C 9: 49,426,853 (GRCm38) K47E probably benign Het
Ankrd11 A T 8: 122,893,805 (GRCm38) probably null Het
Bcl9l T C 9: 44,506,644 (GRCm38) V593A probably benign Het
Cadps T C 14: 12,376,685 (GRCm38) I1271V probably benign Het
Ccdc125 T C 13: 100,684,304 (GRCm38) W152R probably damaging Het
Cep192 T C 18: 67,851,737 (GRCm38) V1606A possibly damaging Het
Csgalnact1 T C 8: 68,401,384 (GRCm38) N255S probably benign Het
Cxxc5 T A 18: 35,859,056 (GRCm38) V170E probably damaging Het
Defb6 C T 8: 19,228,094 (GRCm38) R61C possibly damaging Het
Dnah10 T A 5: 124,747,746 (GRCm38) N655K probably benign Het
Fry G A 5: 150,399,671 (GRCm38) A1096T probably damaging Het
Gli1 C T 10: 127,337,415 (GRCm38) G125S probably damaging Het
Gm5538 T A 3: 59,747,272 (GRCm38) Y176N probably damaging Het
Igkv14-126 A T 6: 67,896,440 (GRCm38) I51F possibly damaging Het
Itgb4 C T 11: 115,984,157 (GRCm38) R447W probably benign Het
Jtb T C 3: 90,233,977 (GRCm38) S87P probably benign Het
Kdm6b A T 11: 69,405,929 (GRCm38) I504N probably damaging Het
Lin9 T A 1: 180,669,198 (GRCm38) L351I probably benign Het
Map2k4 A G 11: 65,735,205 (GRCm38) I136T probably damaging Het
March4 T C 1: 72,428,917 (GRCm38) T319A probably benign Het
Nr2e3 TCCATCGGAGTGTTCCC TC 9: 59,943,418 (GRCm38) probably benign Het
Nt5e T C 9: 88,369,055 (GRCm38) V459A probably damaging Het
Ogdhl A G 14: 32,332,865 (GRCm38) K257E probably damaging Het
Olfr1 AGCGGTCGTAGGC AGC 11: 73,395,654 (GRCm38) probably null Het
Olfr117 A G 17: 37,659,739 (GRCm38) L198P probably damaging Het
Osmr A T 15: 6,837,059 (GRCm38) V378D probably damaging Het
Pcdhb18 G A 18: 37,490,484 (GRCm38) R289Q probably benign Het
Pdzd7 G T 19: 45,036,871 (GRCm38) T395K probably damaging Het
Rasgef1c A G 11: 49,957,143 (GRCm38) D35G probably benign Het
Rbm19 T C 5: 120,141,577 (GRCm38) F770L probably damaging Het
Rit2 C A 18: 30,975,461 (GRCm38) C157F probably damaging Het
Slc22a22 A G 15: 57,256,473 (GRCm38) probably null Het
Slc8b1 T C 5: 120,513,338 (GRCm38) probably null Het
Tas2r105 C A 6: 131,686,873 (GRCm38) L197F possibly damaging Het
Tmprss11b T A 5: 86,665,098 (GRCm38) H113L possibly damaging Het
Ttbk2 G A 2: 120,822,559 (GRCm38) P64S probably damaging Het
Urb1 A T 16: 90,804,537 (GRCm38) H115Q probably damaging Het
Vps13c T A 9: 67,982,495 (GRCm38) probably benign Het
Zbtb39 T A 10: 127,741,560 (GRCm38) M1K probably null Het
Other mutations in Speer2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00693:Speer2 APN 16 69,860,518 (GRCm38) missense probably benign 0.01
IGL01115:Speer2 APN 16 69,861,651 (GRCm38) nonsense probably null
IGL01694:Speer2 APN 16 69,858,113 (GRCm38) missense probably damaging 1.00
IGL01694:Speer2 APN 16 69,858,112 (GRCm38) missense probably damaging 0.98
IGL02738:Speer2 APN 16 69,861,712 (GRCm38) missense probably benign
IGL03024:Speer2 APN 16 69,858,115 (GRCm38) missense possibly damaging 0.95
IGL03062:Speer2 APN 16 69,857,977 (GRCm38) missense probably damaging 0.96
R0054:Speer2 UTSW 16 69,858,752 (GRCm38) missense probably damaging 0.99
R1248:Speer2 UTSW 16 69,857,067 (GRCm38) splice site probably null
R1952:Speer2 UTSW 16 69,857,164 (GRCm38) missense probably damaging 0.96
R1993:Speer2 UTSW 16 69,858,077 (GRCm38) missense probably benign 0.01
R1995:Speer2 UTSW 16 69,858,077 (GRCm38) missense probably benign 0.01
R2063:Speer2 UTSW 16 69,860,497 (GRCm38) missense probably benign 0.02
R2155:Speer2 UTSW 16 69,860,597 (GRCm38) missense possibly damaging 0.63
R2216:Speer2 UTSW 16 69,858,842 (GRCm38) missense possibly damaging 0.94
R4547:Speer2 UTSW 16 69,858,849 (GRCm38) missense probably damaging 0.98
R4548:Speer2 UTSW 16 69,858,849 (GRCm38) missense probably damaging 0.98
R4625:Speer2 UTSW 16 69,858,754 (GRCm38) nonsense probably null
R4692:Speer2 UTSW 16 69,857,972 (GRCm38) missense possibly damaging 0.91
R4841:Speer2 UTSW 16 69,858,100 (GRCm38) missense probably benign 0.26
R4842:Speer2 UTSW 16 69,858,100 (GRCm38) missense probably benign 0.26
R5035:Speer2 UTSW 16 69,857,941 (GRCm38) critical splice donor site probably null
R5133:Speer2 UTSW 16 69,858,820 (GRCm38) missense probably null 0.06
R6348:Speer2 UTSW 16 69,858,007 (GRCm38) missense possibly damaging 0.83
R6854:Speer2 UTSW 16 69,858,887 (GRCm38) missense probably damaging 0.96
R7446:Speer2 UTSW 16 69,858,077 (GRCm38) missense possibly damaging 0.82
R8068:Speer2 UTSW 16 69,860,524 (GRCm38) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- GAAATTGCCATTCCACTGTTGATTG -3'
(R):5'- ACCCTACTGCGTGAACACAG -3'

Sequencing Primer
(F):5'- ATTGGCTTGCTAACTGGTACTTAC -3'
(R):5'- GGAACCCTCCATCTTGATGCTTAG -3'
Posted On 2016-12-15