Incidental Mutation 'R4826:Sapcd2'
ID 374121
Institutional Source Beutler Lab
Gene Symbol Sapcd2
Ensembl Gene ENSMUSG00000026955
Gene Name suppressor APC domain containing 2
Synonyms 2010317E24Rik, 6030458L21Rik, ang
MMRRC Submission 042442-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.357) question?
Stock # R4826 (G1)
Quality Score 149
Status Validated
Chromosome 2
Chromosomal Location 25262333-25268225 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 25262768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 109 (A109V)
Ref Sequence ENSEMBL: ENSMUSP00000109932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028329] [ENSMUST00000100323] [ENSMUST00000114293]
AlphaFold Q9D818
Predicted Effect probably benign
Transcript: ENSMUST00000028329
AA Change: A109V

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000028329
Gene: ENSMUSG00000026955
AA Change: A109V

DomainStartEndE-ValueType
low complexity region 197 212 N/A INTRINSIC
low complexity region 236 250 N/A INTRINSIC
Pfam:Suppressor_APC 257 340 1.6e-34 PFAM
low complexity region 348 362 N/A INTRINSIC
coiled coil region 374 415 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100323
AA Change: A109V

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000097898
Gene: ENSMUSG00000026955
AA Change: A109V

DomainStartEndE-ValueType
low complexity region 202 216 N/A INTRINSIC
Pfam:Suppressor_APC 224 305 2.2e-32 PFAM
low complexity region 385 392 N/A INTRINSIC
coiled coil region 403 436 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114293
AA Change: A109V

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000109932
Gene: ENSMUSG00000026955
AA Change: A109V

DomainStartEndE-ValueType
low complexity region 202 216 N/A INTRINSIC
Pfam:Suppressor_APC 223 306 1.4e-34 PFAM
low complexity region 314 328 N/A INTRINSIC
coiled coil region 340 381 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129214
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132539
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137171
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155310
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 100% (72/72)
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene display an apparently normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,815,470 (GRCm39) R239S probably damaging Het
Acin1 A G 14: 54,902,074 (GRCm39) S573P probably damaging Het
Acta2 A T 19: 34,229,223 (GRCm39) Y55* probably null Het
Aifm2 T C 10: 61,561,768 (GRCm39) M38T probably benign Het
Ank2 C A 3: 126,749,650 (GRCm39) V460L probably benign Het
Ap1b1 T C 11: 4,968,043 (GRCm39) S185P probably benign Het
Arsj A G 3: 126,232,451 (GRCm39) Y399C probably damaging Het
Ciao3 A G 17: 25,999,306 (GRCm39) H240R probably damaging Het
Clec2d T C 6: 129,161,122 (GRCm39) V73A probably benign Het
Cntln T G 4: 84,923,281 (GRCm39) M582R probably benign Het
Cyp4a10 C T 4: 115,375,541 (GRCm39) P8L probably benign Het
Dip2b A G 15: 100,067,162 (GRCm39) N555D probably damaging Het
Dusp4 T A 8: 35,285,671 (GRCm39) F311I probably damaging Het
Eif4g3 T C 4: 137,905,256 (GRCm39) V1245A possibly damaging Het
Ephb3 G A 16: 21,033,745 (GRCm39) R23H possibly damaging Het
Ext2 T C 2: 93,592,975 (GRCm39) T410A probably benign Het
Fam193a A G 5: 34,593,875 (GRCm39) E124G probably damaging Het
Fat4 T A 3: 39,037,106 (GRCm39) V3586E probably damaging Het
Frmd4a T C 2: 4,606,108 (GRCm39) S611P probably damaging Het
Gcn1 A G 5: 115,731,752 (GRCm39) T956A probably benign Het
Gm10549 C A 18: 33,603,838 (GRCm39) T107K unknown Het
Herc6 T A 6: 57,624,072 (GRCm39) M614K probably benign Het
Hspg2 T C 4: 137,292,706 (GRCm39) C4095R probably damaging Het
Hyal5 T C 6: 24,891,575 (GRCm39) I463T possibly damaging Het
Icam5 C T 9: 20,949,099 (GRCm39) A817V possibly damaging Het
Igf2r A T 17: 12,920,240 (GRCm39) D1366E probably damaging Het
Ints7 G A 1: 191,344,018 (GRCm39) V553I probably damaging Het
Iqgap2 T A 13: 95,899,783 (GRCm39) I92F probably damaging Het
Itgb1 T A 8: 129,446,789 (GRCm39) C435S probably damaging Het
Lrrc71 T C 3: 87,650,615 (GRCm39) M216V probably benign Het
Mgam T C 6: 40,657,582 (GRCm39) V979A possibly damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Myh9 A T 15: 77,673,146 (GRCm39) Y400* probably null Het
Nbeal1 A G 1: 60,290,501 (GRCm39) R1033G possibly damaging Het
Nit1 T C 1: 171,173,166 (GRCm39) probably benign Het
Nlrp1c-ps A G 11: 71,133,343 (GRCm39) noncoding transcript Het
Nt5c1a T C 4: 123,102,365 (GRCm39) V97A probably damaging Het
Or12k5 A G 2: 36,895,345 (GRCm39) Y94H probably damaging Het
Or13a18 T A 7: 140,190,232 (GRCm39) M51K probably benign Het
Or1a1b A G 11: 74,097,157 (GRCm39) M295T possibly damaging Het
Or56a5 G T 7: 104,793,175 (GRCm39) N108K probably damaging Het
Or9m1 T A 2: 87,733,693 (GRCm39) D109V probably damaging Het
Pde4a T A 9: 21,103,676 (GRCm39) probably null Het
Pkn2 T C 3: 142,515,270 (GRCm39) K640R probably damaging Het
Pla2g6 A G 15: 79,192,879 (GRCm39) S263P possibly damaging Het
Prkg1 A G 19: 31,742,006 (GRCm39) S73P possibly damaging Het
Prr27 A C 5: 87,998,825 (GRCm39) probably benign Het
Rad54b G T 4: 11,599,753 (GRCm39) W319L probably damaging Het
Rassf8 T A 6: 145,762,276 (GRCm39) L349H probably damaging Het
Rmc1 G T 18: 12,318,836 (GRCm39) probably benign Het
Rnf113a2 T A 12: 84,464,388 (GRCm39) N93K probably benign Het
Slamf9 C A 1: 172,304,008 (GRCm39) H118N probably benign Het
Slc37a1 A G 17: 31,541,147 (GRCm39) Y213C probably damaging Het
Slc5a1 A G 5: 33,316,494 (GRCm39) D580G probably benign Het
Slc7a2 T A 8: 41,364,083 (GRCm39) I432N probably damaging Het
Tas2r114 A T 6: 131,666,800 (GRCm39) L76Q probably damaging Het
Tcerg1 C T 18: 42,668,180 (GRCm39) P391L unknown Het
Tdrd12 A C 7: 35,203,582 (GRCm39) V314G probably benign Het
Zbtb7b A G 3: 89,288,080 (GRCm39) L246S probably benign Het
Other mutations in Sapcd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01337:Sapcd2 APN 2 25,266,491 (GRCm39) makesense probably null
R1596:Sapcd2 UTSW 2 25,266,422 (GRCm39) missense probably damaging 1.00
R3815:Sapcd2 UTSW 2 25,263,518 (GRCm39) intron probably benign
R4926:Sapcd2 UTSW 2 25,263,578 (GRCm39) splice site probably null
R6442:Sapcd2 UTSW 2 25,266,134 (GRCm39) intron probably benign
R6794:Sapcd2 UTSW 2 25,266,379 (GRCm39) missense probably damaging 1.00
R7090:Sapcd2 UTSW 2 25,266,091 (GRCm39) missense probably benign 0.00
R7659:Sapcd2 UTSW 2 25,265,978 (GRCm39) critical splice acceptor site probably null
R7744:Sapcd2 UTSW 2 25,263,508 (GRCm39) missense unknown
R9697:Sapcd2 UTSW 2 25,262,925 (GRCm39) nonsense probably null
R9728:Sapcd2 UTSW 2 25,262,669 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTTCGACATCCTGGACGAC -3'
(R):5'- TTACGAGGTGTGACTAGGGAC -3'

Sequencing Primer
(F):5'- ACCTGCGGGAGATCGAGTC -3'
(R):5'- GTGTGACTAGGGACCCAAACTC -3'
Posted On 2016-03-01