Incidental Mutation 'R6516:Smap2'
ID 520683
Institutional Source Beutler Lab
Gene Symbol Smap2
Ensembl Gene ENSMUSG00000032870
Gene Name small ArfGAP 2
Synonyms Smap1l, Smap2, 1810031K02Rik
MMRRC Submission 044643-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6516 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 120825514-120874444 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 120840303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000035800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043200]
AlphaFold Q7TN29
Predicted Effect probably null
Transcript: ENSMUST00000043200
SMART Domains Protein: ENSMUSP00000035800
Gene: ENSMUSG00000032870

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
Validation Efficiency 100% (63/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930558K02Rik A T 1: 161,780,235 (GRCm39) V93E probably benign Het
Adam18 A G 8: 25,164,703 (GRCm39) L4P probably damaging Het
Adcy8 A T 15: 64,571,236 (GRCm39) Y1136N probably damaging Het
Adgrl3 A G 5: 81,613,119 (GRCm39) Y184C probably damaging Het
Ankrd6 G A 4: 32,836,427 (GRCm39) R43W probably damaging Het
Ano8 G T 8: 71,934,424 (GRCm39) probably null Het
Arhgap31 A G 16: 38,429,766 (GRCm39) F370L possibly damaging Het
C7 A G 15: 5,086,563 (GRCm39) V26A probably damaging Het
Cimap1a G A 7: 140,428,718 (GRCm39) G128S probably damaging Het
Clec4a2 C A 6: 123,116,365 (GRCm39) Q153K probably damaging Het
Cyp2c67 T A 19: 39,605,873 (GRCm39) D341V probably damaging Het
Ddo T A 10: 40,507,741 (GRCm39) V46E probably damaging Het
Deup1 A C 9: 15,521,910 (GRCm39) M85R probably damaging Het
Dmxl2 A T 9: 54,323,960 (GRCm39) S1141R probably damaging Het
Dnah2 A G 11: 69,356,212 (GRCm39) F2147L probably benign Het
Dock10 T C 1: 80,518,178 (GRCm39) E1298G probably damaging Het
Dock4 T A 12: 40,781,898 (GRCm39) V701E possibly damaging Het
Dthd1 A T 5: 62,996,607 (GRCm39) K447N probably benign Het
Eno2 G T 6: 124,738,672 (GRCm39) probably null Het
Fastkd5 T A 2: 130,456,221 (GRCm39) T790S possibly damaging Het
Fer1l4 C T 2: 155,877,119 (GRCm39) V1139M probably damaging Het
Gpbp1 A T 13: 111,589,636 (GRCm39) H111Q probably benign Het
Grk3 A T 5: 113,109,415 (GRCm39) probably benign Het
Itpr3 C T 17: 27,310,344 (GRCm39) A403V probably benign Het
Kcnc2 A G 10: 112,297,905 (GRCm39) T610A probably benign Het
Kcnh1 T A 1: 192,101,089 (GRCm39) D560E possibly damaging Het
Klc4 A T 17: 46,953,181 (GRCm39) N116K probably damaging Het
Krba1 C T 6: 48,390,206 (GRCm39) Q656* probably null Het
Mchr1 A G 15: 81,122,069 (GRCm39) Y273C probably damaging Het
Myh15 T A 16: 48,957,996 (GRCm39) C938S probably benign Het
Nutm1 T C 2: 112,081,562 (GRCm39) E367G probably damaging Het
Or10a3n A T 7: 108,492,972 (GRCm39) I214K probably damaging Het
Or4e2 A T 14: 52,688,586 (GRCm39) T239S probably damaging Het
Or5w18 A T 2: 87,633,114 (GRCm39) Y127F possibly damaging Het
Or8b48 A G 9: 38,492,768 (GRCm39) N65S probably damaging Het
Pikfyve G T 1: 65,304,940 (GRCm39) M1697I probably benign Het
Plcd1 A G 9: 118,905,271 (GRCm39) S147P probably damaging Het
Plin3 G A 17: 56,593,223 (GRCm39) P113L probably damaging Het
Pum3 C A 19: 27,403,408 (GRCm39) S31I probably benign Het
Robo1 T C 16: 72,821,241 (GRCm39) V1327A probably benign Het
Rpl15-ps6 A G 15: 52,341,200 (GRCm39) noncoding transcript Het
Rpl34 G A 3: 130,522,716 (GRCm39) P50L probably benign Het
Scnn1b T C 7: 121,511,335 (GRCm39) S341P probably damaging Het
Sh3bp5 A T 14: 31,097,629 (GRCm39) M362K possibly damaging Het
Slc24a5 A G 2: 124,930,027 (GRCm39) T443A probably benign Het
Slc25a12 T C 2: 71,154,427 (GRCm39) Y81C probably damaging Het
Slc43a3 A G 2: 84,788,105 (GRCm39) T496A probably benign Het
Sptbn5 T A 2: 119,878,431 (GRCm39) probably benign Het
Taar5 A G 10: 23,847,564 (GRCm39) S321G possibly damaging Het
Tbx21 T C 11: 96,990,782 (GRCm39) I299V possibly damaging Het
Tcerg1 T C 18: 42,663,957 (GRCm39) probably null Het
Tenm3 G C 8: 48,870,257 (GRCm39) Q179E probably benign Het
Tmem176a T G 6: 48,821,002 (GRCm39) probably null Het
Tmem236 T C 2: 14,200,791 (GRCm39) S119P probably benign Het
Tmprss11a C T 5: 86,567,987 (GRCm39) V247M probably damaging Het
Tnks1bp1 T C 2: 84,901,071 (GRCm39) S1593P probably damaging Het
Ttc9b T A 7: 27,355,412 (GRCm39) D227E probably benign Het
Usp33 A C 3: 152,079,053 (GRCm39) Q435P probably benign Het
Vti1a C T 19: 55,369,390 (GRCm39) A94V probably damaging Het
Wdr3 A G 3: 100,052,992 (GRCm39) Y587H probably damaging Het
Wwc1 G A 11: 35,758,129 (GRCm39) A739V probably benign Het
Zfp628 C G 7: 4,923,201 (GRCm39) Y474* probably null Het
Zfp820 A T 17: 22,038,354 (GRCm39) C325S probably damaging 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
IGL02236:Smap2 APN 4 120,832,587 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- AAGTCACTGCAGCCCTAATTCC -3'
(R):5'- AGCTGACTCTTCATCTGCAC -3'

Sequencing Primer
(F):5'- ATGCTAGGTGCTAGTCCCAATGTC -3'
(R):5'- ACTCTTCATCTGCACAGTGGGAG -3'
Posted On 2018-06-06