Incidental Mutation 'R8057:Sipa1l2'
ID 619456
Institutional Source Beutler Lab
Gene Symbol Sipa1l2
Ensembl Gene ENSMUSG00000001995
Gene Name signal-induced proliferation-associated 1 like 2
Synonyms
MMRRC Submission 067494-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.312) question?
Stock # R8057 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 126144802-126296547 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 126195269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 823 (V823E)
Ref Sequence ENSEMBL: ENSMUSP00000104405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108775] [ENSMUST00000212168] [ENSMUST00000212987]
AlphaFold Q80TE4
Predicted Effect probably damaging
Transcript: ENSMUST00000108775
AA Change: V823E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104405
Gene: ENSMUSG00000001995
AA Change: V823E

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 damaging
Transcript: ENSMUST00000212168
AA Change: V823E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000212987
AA Change: V823E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (81/81)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik T C 1: 159,902,826 (GRCm39) L32P probably damaging Het
4930563M21Rik T C 9: 55,916,564 (GRCm39) T38A unknown Het
Abcb6 T C 1: 75,151,002 (GRCm39) N563D probably damaging Het
Ak4 T C 4: 101,317,850 (GRCm39) F140S probably damaging Het
Arhgap27 T A 11: 103,229,519 (GRCm39) R296S probably damaging Het
Atxn7l1 A C 12: 33,376,001 (GRCm39) K98N probably damaging Het
Bex6 G T 16: 32,005,224 (GRCm39) D11Y probably damaging Het
Camta1 T C 4: 151,228,489 (GRCm39) D781G probably damaging Het
Capn7 A G 14: 31,092,936 (GRCm39) D800G probably benign Het
Carmil2 G A 8: 106,419,008 (GRCm39) V716I probably benign Het
Cdk5 C A 5: 24,625,782 (GRCm39) D144Y probably damaging Het
Cep85 T C 4: 133,880,925 (GRCm39) probably benign Het
Chd5 T A 4: 152,450,829 (GRCm39) L651Q probably damaging Het
Cimap1d T A 10: 79,475,835 (GRCm39) H243L probably damaging Het
Clcn7 C T 17: 25,368,233 (GRCm39) Q261* probably null Het
Cntnap2 T A 6: 46,324,079 (GRCm39) F576Y probably damaging Het
Col11a1 G A 3: 113,925,263 (GRCm39) G815D unknown Het
Col4a4 T A 1: 82,501,591 (GRCm39) R387S unknown Het
Cse1l T A 2: 166,781,845 (GRCm39) V663D probably damaging Het
Csf2rb2 G T 15: 78,169,206 (GRCm39) Q650K probably damaging Het
Ctnnd2 A G 15: 30,847,497 (GRCm39) D696G possibly damaging Het
Dnah7c T A 1: 46,728,112 (GRCm39) C2937S possibly damaging Het
Epha10 A T 4: 124,796,476 (GRCm39) Q395L Het
Fam167a T A 14: 63,689,769 (GRCm39) V22E probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Gabra4 A G 5: 71,781,295 (GRCm39) I372T probably benign Het
Gpt A G 15: 76,580,972 (GRCm39) probably benign Het
H2-K2 C T 17: 34,215,833 (GRCm39) G336D possibly damaging Het
Hapstr1 C T 16: 8,648,232 (GRCm39) probably benign Het
Hoxd8 T C 2: 74,535,070 (GRCm39) probably null Het
Ilrun C T 17: 27,986,863 (GRCm39) A288T unknown Het
Kdm5d T G Y: 927,355 (GRCm39) D658E possibly damaging Het
Krt25 G A 11: 99,208,169 (GRCm39) T353M probably benign Het
Lonp2 T C 8: 87,440,717 (GRCm39) L778P probably damaging Het
Lrrc66 G A 5: 73,764,875 (GRCm39) Q723* probably null Het
Mak T A 13: 41,202,813 (GRCm39) I212F probably damaging Het
Mastl T A 2: 23,023,566 (GRCm39) R386W possibly damaging Het
Mis18bp1 A G 12: 65,195,673 (GRCm39) I697T possibly damaging Het
Nek5 G A 8: 22,578,922 (GRCm39) T415I probably benign Het
Neu3 T A 7: 99,463,435 (GRCm39) N96I probably benign Het
Nxph2 T C 2: 23,290,107 (GRCm39) V153A possibly damaging Het
Or10a3 A T 7: 108,480,571 (GRCm39) F81I probably damaging Het
Or5b102 G A 19: 13,040,638 (GRCm39) probably benign Het
Or8b4 A G 9: 37,830,460 (GRCm39) D169G probably benign Het
Otogl T C 10: 107,644,476 (GRCm39) T1257A probably benign Het
Pcdh10 G A 3: 45,333,694 (GRCm39) V3M probably benign Het
Pitpnm1 G A 19: 4,162,145 (GRCm39) R1017Q probably null Het
Plcb3 A C 19: 6,932,463 (GRCm39) H1065Q probably benign Het
Plcb3 A T 19: 6,936,267 (GRCm39) M752K probably damaging Het
Plch1 T C 3: 63,605,557 (GRCm39) E1449G probably benign Het
Plekha4 T A 7: 45,198,695 (GRCm39) C573S probably benign Het
Plin2 T C 4: 86,575,638 (GRCm39) I304V possibly damaging Het
Pnp2 G A 14: 51,201,838 (GRCm39) V275I probably benign Het
Polr1a G A 6: 71,908,644 (GRCm39) A490T possibly damaging Het
Ppp1r12b A G 1: 134,883,354 (GRCm39) F56S probably damaging Het
Ptk2 GA G 15: 73,170,048 (GRCm39) probably null Het
Rb1cc1 C A 1: 6,315,443 (GRCm39) R473S probably damaging Het
Rcc2 G A 4: 140,429,586 (GRCm39) C40Y probably benign Het
Rdx T C 9: 51,976,946 (GRCm39) V65A probably damaging Het
Rpl27rt T C 18: 34,870,582 (GRCm39) F39L probably damaging Het
Rps6ka5 A G 12: 100,540,055 (GRCm39) probably null Het
Samd5 C T 10: 9,550,641 (GRCm39) V23M probably damaging Het
Scn9a T G 2: 66,345,774 (GRCm39) R1117S probably benign Het
Scrn1 T A 6: 54,497,758 (GRCm39) I278L probably benign Het
Sec31b G T 19: 44,507,804 (GRCm39) P747T probably damaging Het
Slc2a13 T C 15: 91,400,619 (GRCm39) N201S probably damaging Het
Slc30a3 C A 5: 31,247,395 (GRCm39) probably benign Het
Snx31 C A 15: 36,523,606 (GRCm39) V359F probably damaging Het
Sstr2 A G 11: 113,515,099 (GRCm39) E6G probably benign Het
Stc2 C A 11: 31,317,806 (GRCm39) E72* probably null Het
Tead1 C T 7: 112,358,721 (GRCm39) P11L probably benign Het
Tmem51 T C 4: 141,759,059 (GRCm39) T230A probably damaging Het
Tmem63c A T 12: 87,118,972 (GRCm39) K301* probably null Het
Tns3 G C 11: 8,442,773 (GRCm39) A530G probably benign Het
Trat1 T C 16: 48,562,600 (GRCm39) D70G probably damaging Het
Trex1 T A 9: 108,887,397 (GRCm39) E198V probably damaging Het
Ttn T G 2: 76,570,072 (GRCm39) R26940S probably damaging Het
Uba2 T C 7: 33,867,835 (GRCm39) K34R possibly damaging Het
Vps13d A C 4: 144,701,753 (GRCm39) M4376R Het
Zfp157 C A 5: 138,454,336 (GRCm39) T178K probably damaging Het
Zfp318 T A 17: 46,710,692 (GRCm39) V805D possibly damaging 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
R2141:Sipa1l2 UTSW 8 126,218,230 (GRCm39) missense probably benign 0.07
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
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'- CAGCATGATGAACTCATTGGAG -3'
(R):5'- TGGAGTCTCCAGGTCAAAGG -3'

Sequencing Primer
(F):5'- GCATGATGAACTCATTGGAGATCCC -3'
(R):5'- AGTCTCCAGGTCAAAGGATGTCC -3'
Posted On 2020-01-23