Incidental Mutation 'IGL02236:Smap2'
ID 285877
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smap2
Ensembl Gene ENSMUSG00000032870
Gene Name small ArfGAP 2
Synonyms Smap1l, Smap2, 1810031K02Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02236
Quality Score
Status
Chromosome 4
Chromosomal Location 120825514-120874444 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120832587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 185 (M185L)
Ref Sequence ENSEMBL: ENSMUSP00000035800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043200]
AlphaFold Q7TN29
Predicted Effect probably benign
Transcript: ENSMUST00000043200
AA Change: M185L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000035800
Gene: ENSMUSG00000032870
AA Change: M185L

DomainStartEndE-ValueType
ArfGap 13 131 2.06e-44 SMART
low complexity region 216 224 N/A INTRINSIC
low complexity region 274 293 N/A INTRINSIC
low complexity region 309 320 N/A INTRINSIC
low complexity region 331 342 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151615
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199525
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility associated with globozoospermia, asthenozoospermia and abnormal acrosome formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Baz1b T C 5: 135,246,138 (GRCm39) L529P probably damaging Het
Bdp1 A T 13: 100,197,399 (GRCm39) D995E probably benign Het
Cd22 T C 7: 30,566,893 (GRCm39) N607S possibly damaging Het
Ddx10 T A 9: 53,146,682 (GRCm39) D180V probably damaging Het
Dennd4c T C 4: 86,725,672 (GRCm39) Y709H possibly damaging Het
Dhrs3 A C 4: 144,620,133 (GRCm39) I17L probably benign Het
Dnah8 A T 17: 30,868,747 (GRCm39) K394* probably null Het
Flnc T A 6: 29,454,375 (GRCm39) I1896N probably damaging Het
Glipr1l2 A G 10: 111,928,534 (GRCm39) Y143C probably damaging Het
Lmo7 T C 14: 102,163,524 (GRCm39) probably benign Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Mast3 A G 8: 71,241,888 (GRCm39) S98P probably benign Het
Myf5 A G 10: 107,320,051 (GRCm39) S200P possibly damaging Het
Or52r1b T G 7: 102,690,928 (GRCm39) S76A possibly damaging Het
Pramel12 G A 4: 143,143,512 (GRCm39) V93I probably benign Het
Recql5 A C 11: 115,784,856 (GRCm39) S824A probably benign Het
Reg2 A G 6: 78,383,188 (GRCm39) E45G probably damaging Het
Rergl T C 6: 139,471,918 (GRCm39) D77G probably benign Het
Rnf224 T C 2: 25,126,260 (GRCm39) D31G probably damaging Het
Sema4c C T 1: 36,592,166 (GRCm39) S227N probably damaging Het
Sgsm2 C T 11: 74,750,698 (GRCm39) G439D probably damaging Het
Spty2d1 A G 7: 46,647,360 (GRCm39) V523A probably benign Het
Stk17b C A 1: 53,803,247 (GRCm39) R184L probably damaging Het
Syt13 A G 2: 92,771,210 (GRCm39) D99G probably damaging Het
Trav14-1 T A 14: 53,791,763 (GRCm39) S38T possibly damaging Het
Ttn T C 2: 76,700,812 (GRCm39) probably benign Het
Usp17la G A 7: 104,510,353 (GRCm39) W319* probably null Het
Vmn2r73 T C 7: 85,521,902 (GRCm39) T146A probably benign Het
Vwa3b C T 1: 37,193,132 (GRCm39) probably benign Het
Zfp13 A T 17: 23,799,739 (GRCm39) probably benign Het
Zscan18 A C 7: 12,503,251 (GRCm39) D769E probably benign Het
Other mutations in Smap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01486:Smap2 APN 4 120,830,395 (GRCm39) missense probably damaging 0.99
IGL01727:Smap2 APN 4 120,839,405 (GRCm39) splice site probably benign
twizzler UTSW 4 120,842,508 (GRCm39) missense probably damaging 1.00
R0564:Smap2 UTSW 4 120,834,174 (GRCm39) missense probably benign 0.03
R4567:Smap2 UTSW 4 120,842,508 (GRCm39) missense probably damaging 1.00
R5132:Smap2 UTSW 4 120,830,370 (GRCm39) missense possibly damaging 0.79
R5198:Smap2 UTSW 4 120,873,984 (GRCm39) missense possibly damaging 0.89
R6469:Smap2 UTSW 4 120,830,282 (GRCm39) critical splice donor site probably benign
R6470:Smap2 UTSW 4 120,830,282 (GRCm39) critical splice donor site probably benign
R6472:Smap2 UTSW 4 120,830,282 (GRCm39) critical splice donor site probably benign
R6504:Smap2 UTSW 4 120,830,282 (GRCm39) critical splice donor site probably benign
R6516:Smap2 UTSW 4 120,840,303 (GRCm39) critical splice donor site probably null
R7013:Smap2 UTSW 4 120,839,365 (GRCm39) missense probably damaging 1.00
R7270:Smap2 UTSW 4 120,829,264 (GRCm39) missense probably benign 0.00
R7634:Smap2 UTSW 4 120,873,996 (GRCm39) missense probably benign
R9674:Smap2 UTSW 4 120,826,745 (GRCm39) missense probably benign 0.04
Posted On 2015-04-16