Incidental Mutation 'R2141:Sipa1l2'
ID 236261
Institutional Source Beutler Lab
Gene Symbol Sipa1l2
Ensembl Gene ENSMUSG00000001995
Gene Name signal-induced proliferation-associated 1 like 2
Synonyms
MMRRC Submission 040144-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.312) question?
Stock # R2141 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 126144802-126296547 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 126218230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 369 (P369L)
Ref Sequence ENSEMBL: ENSMUSP00000148557 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108775] [ENSMUST00000212168] [ENSMUST00000212987]
AlphaFold Q80TE4
Predicted Effect probably benign
Transcript: ENSMUST00000108775
AA Change: P369L

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000104405
Gene: ENSMUSG00000001995
AA Change: P369L

DomainStartEndE-ValueType
low complexity region 53 64 N/A INTRINSIC
low complexity region 163 172 N/A INTRINSIC
low complexity region 261 272 N/A INTRINSIC
low complexity region 427 449 N/A INTRINSIC
Pfam:Rap_GAP 625 807 2.6e-67 PFAM
PDZ 960 1026 6.47e-9 SMART
low complexity region 1091 1103 N/A INTRINSIC
low complexity region 1120 1138 N/A INTRINSIC
low complexity region 1220 1238 N/A INTRINSIC
low complexity region 1299 1312 N/A INTRINSIC
low complexity region 1321 1329 N/A INTRINSIC
low complexity region 1334 1355 N/A INTRINSIC
low complexity region 1404 1418 N/A INTRINSIC
Pfam:SPAR_C 1421 1666 2.5e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212168
AA Change: P369L

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000212987
AA Change: P369L

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 97% (107/110)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the signal-induced proliferation-associated 1 like family. Members of this family contain a GTPase activating domain, a PDZ domain and a C-terminal coiled-coil domain with a leucine zipper. A similar protein in rat acts as a GTPases for the small GTPase Rap. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik G T 11: 58,314,752 (GRCm39) C150F probably damaging Het
Aagab T A 9: 63,523,957 (GRCm39) probably null Het
Abca15 A C 7: 120,006,697 (GRCm39) T1654P probably damaging Het
Abca17 T A 17: 24,553,240 (GRCm39) Y157F probably benign Het
Aftph A T 11: 20,648,318 (GRCm39) L813* probably null Het
Agap1 T C 1: 89,765,477 (GRCm39) I615T probably damaging Het
Ak3 T G 19: 29,000,247 (GRCm39) Q221H probably benign Het
Aldoa A G 7: 126,396,814 (GRCm39) probably null Het
Anxa8 T C 14: 33,813,873 (GRCm39) probably null Het
Atpsckmt T C 15: 31,609,718 (GRCm39) F146L probably benign Het
Baz2a A G 10: 127,959,481 (GRCm39) D1329G probably damaging Het
Calhm6 G T 10: 34,003,691 (GRCm39) A72E probably damaging Het
Capn9 G A 8: 125,332,450 (GRCm39) G430R possibly damaging Het
Cd55 C T 1: 130,377,160 (GRCm39) V333I probably benign Het
Cep70 A G 9: 99,178,438 (GRCm39) Y512C probably damaging Het
Cfhr2 T G 1: 139,758,893 (GRCm39) R52S probably benign Het
Clcn6 A G 4: 148,108,594 (GRCm39) F145S possibly damaging Het
Cnksr1 A G 4: 133,956,939 (GRCm39) Y488H probably damaging Het
Diablo A G 5: 123,661,424 (GRCm39) V24A probably benign Het
Dnah7b T A 1: 46,307,830 (GRCm39) M3048K probably damaging Het
Dsel T C 1: 111,787,187 (GRCm39) N1116S probably benign Het
Efnb1 A G X: 98,191,123 (GRCm39) Y343C probably damaging Het
Esco1 A G 18: 10,574,873 (GRCm39) probably null Het
Fancd2 A G 6: 113,526,282 (GRCm39) N335S probably benign Het
Flnc A G 6: 29,448,674 (GRCm39) Y1304C probably damaging Het
Fubp3 A G 2: 31,490,569 (GRCm39) probably benign Het
Gemin4 G C 11: 76,101,876 (GRCm39) P962A probably damaging Het
Gjc3 A C 5: 137,955,808 (GRCm39) L159R probably damaging Het
Gli1 A G 10: 127,172,596 (GRCm39) L182P probably damaging Het
Gm21957 G T 7: 124,818,625 (GRCm39) noncoding transcript Het
Gm28040 AGTG AGTGGCACCTTTGGTG 1: 133,255,059 (GRCm39) probably benign Het
Gm5885 A G 6: 133,506,238 (GRCm39) noncoding transcript Het
Gon4l A T 3: 88,794,902 (GRCm39) T402S possibly damaging Het
Gprasp1 G A X: 134,702,791 (GRCm39) E995K possibly damaging Het
Gvin-ps5 T A 7: 105,929,163 (GRCm39) T245S probably damaging Het
Helb A T 10: 119,941,926 (GRCm39) M254K possibly damaging Het
Ift20 G A 11: 78,430,860 (GRCm39) E68K probably damaging Het
Igfn1 AGGG AGG 1: 135,902,590 (GRCm39) probably benign Het
Impdh2 A G 9: 108,442,546 (GRCm39) E305G possibly damaging Het
Ints7 T A 1: 191,336,972 (GRCm39) C351S possibly damaging Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTCCTC 1: 135,314,006 (GRCm39) probably benign Het
Ipo9 A G 1: 135,329,988 (GRCm39) V484A probably benign Het
Kcnq3 T C 15: 65,867,700 (GRCm39) M648V probably benign Het
Kctd16 A G 18: 40,392,231 (GRCm39) E273G possibly damaging Het
Kif18a T A 2: 109,163,848 (GRCm39) N732K probably benign Het
Kif21b C T 1: 136,080,002 (GRCm39) R513W probably damaging Het
Klhl36 T C 8: 120,603,511 (GRCm39) C589R possibly damaging Het
Lck A G 4: 129,442,713 (GRCm39) Y481H probably damaging Het
Lmtk2 A G 5: 144,084,433 (GRCm39) Y156C probably damaging Het
Mical3 A T 6: 121,008,095 (GRCm39) probably null Het
Mki67 A G 7: 135,297,321 (GRCm39) I2571T possibly damaging Het
Mx2 G A 16: 97,339,903 (GRCm39) E20K probably benign Het
Myo10 A G 15: 25,714,194 (GRCm39) E87G probably benign Het
Myo18b T C 5: 113,021,892 (GRCm39) K500R probably benign Het
N4bp2l2 A T 5: 150,571,001 (GRCm39) I458N probably damaging Het
Nat10 T C 2: 103,561,648 (GRCm39) probably null Het
Nfasc G A 1: 132,524,383 (GRCm39) P932L probably damaging Het
Nipa1 C A 7: 55,647,259 (GRCm39) probably null Het
Nkpd1 A G 7: 19,258,162 (GRCm39) Q647R probably damaging Het
Nlrc4 T A 17: 74,754,946 (GRCm39) probably benign Het
Nmbr C A 10: 14,646,186 (GRCm39) Y353* probably null Het
Nos1ap T A 1: 170,156,735 (GRCm39) D241V probably damaging Het
Obsl1 G A 1: 75,486,756 (GRCm38) T1764M probably benign Het
Optc A T 1: 133,831,534 (GRCm39) probably null Het
Or4f4b A T 2: 111,313,975 (GRCm39) T95S probably benign Het
Or5d43 A G 2: 88,105,354 (GRCm39) V13A probably benign Het
Or5m13 A G 2: 85,749,171 (GRCm39) I301V probably null Het
Or6c201 A G 10: 128,968,875 (GRCm39) I254T probably benign Het
Pank1 G A 19: 34,856,380 (GRCm39) R33C possibly damaging Het
Pcmtd1 C T 1: 7,239,789 (GRCm39) R77C probably damaging Het
Phkg2 G A 7: 127,181,386 (GRCm39) probably null Het
Plcb4 G A 2: 135,818,019 (GRCm39) V762M probably damaging Het
Pramel7 T A 2: 87,320,321 (GRCm39) H324L probably damaging Het
Prelp C T 1: 133,842,869 (GRCm39) R92K probably benign Het
Ptgr3 T C 18: 84,112,668 (GRCm39) Y115H probably benign Het
Rai1 C A 11: 60,080,293 (GRCm39) S1452R possibly damaging Het
Ren1 C G 1: 133,278,516 (GRCm39) probably null Het
Rev3l T C 10: 39,724,045 (GRCm39) V785A probably benign Het
Ro60 T C 1: 143,635,772 (GRCm39) D458G probably benign Het
Rufy2 G T 10: 62,826,773 (GRCm39) R104L probably damaging Het
Senp6 T A 9: 80,031,102 (GRCm39) N8K probably damaging Het
Septin4 A T 11: 87,474,262 (GRCm39) Q60L probably benign Het
Slc43a1 T C 2: 84,671,305 (GRCm39) L37P probably damaging Het
Slf1 T A 13: 77,197,338 (GRCm39) probably null Het
Ssr2 T A 3: 88,483,949 (GRCm39) probably benign Het
Syt2 ACTCTCTCT ACTCTCTCTCT 1: 134,674,479 (GRCm39) probably benign Het
Tas2r115 T C 6: 132,714,321 (GRCm39) K210R probably benign Het
Tbx18 A G 9: 87,597,706 (GRCm39) V276A probably damaging Het
Tesl1 T A X: 23,773,549 (GRCm39) V350E probably benign Het
Tie1 G A 4: 118,330,008 (GRCm39) R1072* probably null Het
Tm2d2 C A 8: 25,512,674 (GRCm39) T174K probably damaging Het
Tmem98 A G 11: 80,705,158 (GRCm39) D82G possibly damaging Het
Tmub2 A G 11: 102,178,379 (GRCm39) E94G possibly damaging Het
Tnnt2 TG TGG 1: 135,774,499 (GRCm39) probably benign Het
Tonsl A T 15: 76,516,861 (GRCm39) I923N probably damaging Het
Ttc21a G A 9: 119,793,361 (GRCm39) V977M probably damaging Het
Ube2ql1 T C 13: 69,886,783 (GRCm39) D226G probably damaging Het
Ubr4 C T 4: 139,204,518 (GRCm39) T4810M probably damaging Het
Wdr87-ps T C 7: 29,230,935 (GRCm39) noncoding transcript Het
Zfp408 A G 2: 91,478,194 (GRCm39) probably benign Het
Zfp473 T C 7: 44,382,501 (GRCm39) T610A possibly damaging Het
Zfp804b A G 5: 6,822,583 (GRCm39) V160A probably benign Het
Zfp960 A G 17: 17,308,146 (GRCm39) T287A probably benign Het
Other mutations in Sipa1l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00534:Sipa1l2 APN 8 126,218,545 (GRCm39) missense probably damaging 1.00
IGL00939:Sipa1l2 APN 8 126,191,174 (GRCm39) splice site probably benign
IGL00965:Sipa1l2 APN 8 126,174,613 (GRCm39) missense probably benign 0.02
IGL01321:Sipa1l2 APN 8 126,218,257 (GRCm39) missense probably damaging 1.00
IGL01450:Sipa1l2 APN 8 126,149,316 (GRCm39) critical splice donor site probably null
IGL01753:Sipa1l2 APN 8 126,180,031 (GRCm39) splice site probably benign
IGL01930:Sipa1l2 APN 8 126,145,978 (GRCm39) missense probably damaging 0.99
IGL02041:Sipa1l2 APN 8 126,218,558 (GRCm39) missense probably benign 0.03
IGL02215:Sipa1l2 APN 8 126,174,576 (GRCm39) missense possibly damaging 0.67
IGL02272:Sipa1l2 APN 8 126,218,750 (GRCm39) missense probably damaging 1.00
IGL02370:Sipa1l2 APN 8 126,207,008 (GRCm39) missense probably damaging 1.00
IGL02538:Sipa1l2 APN 8 126,178,716 (GRCm39) missense probably damaging 1.00
IGL02633:Sipa1l2 APN 8 126,174,507 (GRCm39) missense probably damaging 1.00
IGL03394:Sipa1l2 APN 8 126,218,398 (GRCm39) missense possibly damaging 0.67
Rebellious UTSW 8 126,195,078 (GRCm39) missense probably benign 0.01
R0144:Sipa1l2 UTSW 8 126,176,615 (GRCm39) splice site probably null
R0153:Sipa1l2 UTSW 8 126,148,637 (GRCm39) missense probably damaging 0.99
R0276:Sipa1l2 UTSW 8 126,148,679 (GRCm39) missense probably damaging 1.00
R0318:Sipa1l2 UTSW 8 126,174,436 (GRCm39) missense possibly damaging 0.73
R0373:Sipa1l2 UTSW 8 126,191,149 (GRCm39) missense probably damaging 0.99
R0427:Sipa1l2 UTSW 8 126,207,071 (GRCm39) missense probably damaging 1.00
R0634:Sipa1l2 UTSW 8 126,149,363 (GRCm39) nonsense probably null
R1377:Sipa1l2 UTSW 8 126,218,716 (GRCm39) missense probably damaging 1.00
R1404:Sipa1l2 UTSW 8 126,176,712 (GRCm39) missense probably damaging 1.00
R1404:Sipa1l2 UTSW 8 126,176,712 (GRCm39) missense probably damaging 1.00
R1435:Sipa1l2 UTSW 8 126,195,464 (GRCm39) missense probably damaging 1.00
R1523:Sipa1l2 UTSW 8 126,174,352 (GRCm39) missense possibly damaging 0.75
R1577:Sipa1l2 UTSW 8 126,219,001 (GRCm39) missense probably benign 0.00
R1581:Sipa1l2 UTSW 8 126,218,356 (GRCm39) missense probably damaging 0.96
R1583:Sipa1l2 UTSW 8 126,148,634 (GRCm39) missense probably damaging 0.97
R1719:Sipa1l2 UTSW 8 126,171,274 (GRCm39) missense probably damaging 0.99
R1730:Sipa1l2 UTSW 8 126,206,880 (GRCm39) splice site probably null
R1940:Sipa1l2 UTSW 8 126,206,887 (GRCm39) splice site probably benign
R2007:Sipa1l2 UTSW 8 126,166,176 (GRCm39) missense probably damaging 1.00
R2203:Sipa1l2 UTSW 8 126,218,366 (GRCm39) missense probably damaging 0.99
R2764:Sipa1l2 UTSW 8 126,219,113 (GRCm39) missense probably damaging 0.99
R3722:Sipa1l2 UTSW 8 126,200,323 (GRCm39) missense probably damaging 1.00
R3787:Sipa1l2 UTSW 8 126,177,122 (GRCm39) missense possibly damaging 0.52
R3787:Sipa1l2 UTSW 8 126,149,944 (GRCm39) missense probably benign
R4106:Sipa1l2 UTSW 8 126,219,047 (GRCm39) missense probably damaging 1.00
R4117:Sipa1l2 UTSW 8 126,195,249 (GRCm39) missense probably damaging 1.00
R4194:Sipa1l2 UTSW 8 126,218,411 (GRCm39) missense probably benign 0.00
R4237:Sipa1l2 UTSW 8 126,218,395 (GRCm39) missense probably benign 0.44
R4240:Sipa1l2 UTSW 8 126,218,395 (GRCm39) missense probably benign 0.44
R4448:Sipa1l2 UTSW 8 126,219,094 (GRCm39) missense probably damaging 1.00
R4515:Sipa1l2 UTSW 8 126,218,965 (GRCm39) missense probably benign 0.00
R4519:Sipa1l2 UTSW 8 126,218,965 (GRCm39) missense probably benign 0.00
R4523:Sipa1l2 UTSW 8 126,219,163 (GRCm39) missense probably damaging 1.00
R4557:Sipa1l2 UTSW 8 126,191,154 (GRCm39) missense probably damaging 0.98
R4667:Sipa1l2 UTSW 8 126,180,209 (GRCm39) missense possibly damaging 0.93
R4687:Sipa1l2 UTSW 8 126,217,984 (GRCm39) missense probably damaging 1.00
R4854:Sipa1l2 UTSW 8 126,200,340 (GRCm39) missense probably damaging 1.00
R4890:Sipa1l2 UTSW 8 126,218,606 (GRCm39) missense probably damaging 1.00
R5065:Sipa1l2 UTSW 8 126,218,324 (GRCm39) missense probably benign 0.19
R5194:Sipa1l2 UTSW 8 126,166,012 (GRCm39) missense possibly damaging 0.48
R5266:Sipa1l2 UTSW 8 126,218,865 (GRCm39) missense probably damaging 0.99
R5475:Sipa1l2 UTSW 8 126,218,334 (GRCm39) missense probably damaging 1.00
R5718:Sipa1l2 UTSW 8 126,217,987 (GRCm39) missense probably damaging 1.00
R5910:Sipa1l2 UTSW 8 126,218,423 (GRCm39) missense probably benign 0.42
R5916:Sipa1l2 UTSW 8 126,195,312 (GRCm39) missense probably damaging 1.00
R5941:Sipa1l2 UTSW 8 126,200,275 (GRCm39) missense probably damaging 0.99
R6083:Sipa1l2 UTSW 8 126,195,212 (GRCm39) missense possibly damaging 0.87
R6185:Sipa1l2 UTSW 8 126,194,992 (GRCm39) nonsense probably null
R6235:Sipa1l2 UTSW 8 126,201,610 (GRCm39) missense probably damaging 1.00
R6274:Sipa1l2 UTSW 8 126,196,611 (GRCm39) missense probably damaging 1.00
R6299:Sipa1l2 UTSW 8 126,180,203 (GRCm39) missense possibly damaging 0.75
R6374:Sipa1l2 UTSW 8 126,171,369 (GRCm39) missense probably damaging 1.00
R6459:Sipa1l2 UTSW 8 126,171,223 (GRCm39) critical splice donor site probably null
R6462:Sipa1l2 UTSW 8 126,217,969 (GRCm39) missense probably damaging 1.00
R6496:Sipa1l2 UTSW 8 126,176,633 (GRCm39) missense probably benign 0.00
R6543:Sipa1l2 UTSW 8 126,177,101 (GRCm39) missense possibly damaging 0.50
R7154:Sipa1l2 UTSW 8 126,195,078 (GRCm39) missense probably benign 0.01
R7192:Sipa1l2 UTSW 8 126,149,348 (GRCm39) missense probably benign 0.09
R7240:Sipa1l2 UTSW 8 126,196,599 (GRCm39) missense probably damaging 1.00
R7361:Sipa1l2 UTSW 8 126,180,071 (GRCm39) missense probably damaging 1.00
R7383:Sipa1l2 UTSW 8 126,174,385 (GRCm39) missense probably damaging 1.00
R7417:Sipa1l2 UTSW 8 126,208,845 (GRCm39) missense possibly damaging 0.93
R7604:Sipa1l2 UTSW 8 126,146,011 (GRCm39) missense probably benign 0.45
R7658:Sipa1l2 UTSW 8 126,219,029 (GRCm39) missense probably benign 0.00
R7743:Sipa1l2 UTSW 8 126,190,972 (GRCm39) missense probably damaging 1.00
R7781:Sipa1l2 UTSW 8 126,218,566 (GRCm39) missense possibly damaging 0.46
R7812:Sipa1l2 UTSW 8 126,218,334 (GRCm39) missense probably damaging 1.00
R7829:Sipa1l2 UTSW 8 126,178,727 (GRCm39) missense probably damaging 1.00
R7880:Sipa1l2 UTSW 8 126,191,132 (GRCm39) missense probably damaging 1.00
R7884:Sipa1l2 UTSW 8 126,174,337 (GRCm39) missense probably benign
R8057:Sipa1l2 UTSW 8 126,195,269 (GRCm39) missense probably damaging 1.00
R8082:Sipa1l2 UTSW 8 126,218,548 (GRCm39) missense possibly damaging 0.82
R8092:Sipa1l2 UTSW 8 126,145,907 (GRCm39) missense probably benign 0.03
R8247:Sipa1l2 UTSW 8 126,149,372 (GRCm39) missense probably benign 0.29
R8252:Sipa1l2 UTSW 8 126,195,410 (GRCm39) missense probably damaging 1.00
R8386:Sipa1l2 UTSW 8 126,218,832 (GRCm39) missense probably damaging 1.00
R8466:Sipa1l2 UTSW 8 126,218,985 (GRCm39) missense probably damaging 1.00
R8697:Sipa1l2 UTSW 8 126,208,855 (GRCm39) missense probably damaging 1.00
R8725:Sipa1l2 UTSW 8 126,177,125 (GRCm39) missense probably benign 0.28
R8727:Sipa1l2 UTSW 8 126,177,125 (GRCm39) missense probably benign 0.28
R9048:Sipa1l2 UTSW 8 126,174,465 (GRCm39) missense possibly damaging 0.59
R9224:Sipa1l2 UTSW 8 126,218,716 (GRCm39) missense probably damaging 1.00
R9279:Sipa1l2 UTSW 8 126,208,896 (GRCm39) missense probably damaging 1.00
R9392:Sipa1l2 UTSW 8 126,194,960 (GRCm39) missense probably benign
R9574:Sipa1l2 UTSW 8 126,169,453 (GRCm39) missense probably benign
R9591:Sipa1l2 UTSW 8 126,219,112 (GRCm39) missense probably damaging 0.99
R9614:Sipa1l2 UTSW 8 126,196,565 (GRCm39) missense probably null 0.01
R9690:Sipa1l2 UTSW 8 126,218,996 (GRCm39) missense probably benign
X0027:Sipa1l2 UTSW 8 126,218,875 (GRCm39) missense probably damaging 1.00
Z1177:Sipa1l2 UTSW 8 126,174,295 (GRCm39) missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- AGAGAGGGCAATGCGTCTATC -3'
(R):5'- ACTTCGGGCAGTCAAGAGTG -3'

Sequencing Primer
(F):5'- TATCGCCCTCCCCACCAG -3'
(R):5'- GTGAGCATGAGACCTTCAAGTTC -3'
Posted On 2014-10-01