Incidental Mutation 'R8936:Caap1'
ID 680625
Institutional Source Beutler Lab
Gene Symbol Caap1
Ensembl Gene ENSMUSG00000028578
Gene Name caspase activity and apoptosis inhibitor 1
Synonyms 5830433M19Rik
MMRRC Submission 068779-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R8936 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 94388318-94445033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 94389332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 334 (L334Q)
Ref Sequence ENSEMBL: ENSMUSP00000030313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030313]
AlphaFold Q8VDY9
Predicted Effect probably damaging
Transcript: ENSMUST00000030313
AA Change: L334Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030313
Gene: ENSMUSG00000028578
AA Change: L334Q

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
low complexity region 33 58 N/A INTRINSIC
low complexity region 60 78 N/A INTRINSIC
Pfam:CAAP1 113 175 3.2e-31 PFAM
low complexity region 254 271 N/A INTRINSIC
coiled coil region 276 303 N/A INTRINSIC
low complexity region 331 337 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A G 19: 43,797,101 (GRCm39) K491E probably benign Het
Abcd3 T C 3: 121,569,117 (GRCm39) I374V probably benign Het
Adam34 G A 8: 44,104,439 (GRCm39) T402I probably benign Het
Angptl7 G T 4: 148,581,790 (GRCm39) H199N probably benign Het
Ankrd11 A G 8: 123,621,840 (GRCm39) C671R possibly damaging Het
Anxa7 G A 14: 20,521,495 (GRCm39) P67L unknown Het
Ap3d1 T A 10: 80,547,952 (GRCm39) Q913H probably benign Het
Arhgef37 A G 18: 61,656,948 (GRCm39) I39T probably damaging Het
Armh4 G A 14: 50,008,024 (GRCm39) T483I probably damaging Het
C3ar1 T A 6: 122,828,044 (GRCm39) T58S probably damaging Het
Ccr1 A T 9: 123,763,882 (GRCm39) I216K probably damaging Het
Cdh9 T A 15: 16,831,162 (GRCm39) probably null Het
Cept1 A G 3: 106,411,921 (GRCm39) F351S possibly damaging Het
Cfap61 A G 2: 145,791,879 (GRCm39) D112G possibly damaging Het
Cul9 T A 17: 46,839,528 (GRCm39) S817C possibly damaging Het
Dido1 A G 2: 180,303,195 (GRCm39) S1570P probably benign Het
Disc1 A G 8: 125,814,754 (GRCm39) D206G probably damaging Het
Dock5 T A 14: 68,083,439 (GRCm39) R157* probably null Het
Dpp6 A G 5: 27,926,140 (GRCm39) D738G probably damaging Het
Enpep A G 3: 129,125,884 (GRCm39) F83L possibly damaging Het
F10 G T 8: 13,095,086 (GRCm39) W81L probably damaging Het
Fam217a T C 13: 35,095,147 (GRCm39) D356G probably damaging Het
Fes T C 7: 80,031,473 (GRCm39) E467G probably damaging Het
Fignl2 A T 15: 100,951,339 (GRCm39) D314E unknown Het
Foxh1 T C 15: 76,552,719 (GRCm39) probably benign Het
Gdpd5 T C 7: 99,109,199 (GRCm39) L573P probably benign Het
Gigyf1 T A 5: 137,523,469 (GRCm39) S934T probably damaging Het
Gm7356 C T 17: 14,221,937 (GRCm39) V31I probably benign Het
Hoatz A G 9: 51,011,298 (GRCm39) probably null Het
Hoxa2 C A 6: 52,140,517 (GRCm39) K156N probably damaging Het
Ifi203 G A 1: 173,756,857 (GRCm39) probably benign Het
Il5ra A T 6: 106,692,604 (GRCm39) D380E possibly damaging Het
Ino80c C A 18: 24,254,865 (GRCm39) probably benign Het
Kif18a T A 2: 109,163,966 (GRCm39) W772R probably benign Het
Lipo3 G T 19: 33,557,880 (GRCm39) Q171K probably damaging Het
Mga A T 2: 119,794,709 (GRCm39) T2798S probably damaging Het
Msantd5l A G 11: 51,145,249 (GRCm39) S113P probably damaging Het
Mybpc1 T A 10: 88,394,437 (GRCm39) T297S probably benign Het
Myh7 T G 14: 55,228,440 (GRCm39) Q222P probably benign Het
N4bp2l2 T C 5: 150,585,362 (GRCm39) D206G probably benign Het
Nacc2 G C 2: 25,952,216 (GRCm39) T380S probably benign Het
Niban3 T A 8: 72,060,307 (GRCm39) probably benign Het
Nkpd1 T A 7: 19,255,875 (GRCm39) D186E probably damaging Het
Nol10 A T 12: 17,466,863 (GRCm39) E581V probably benign Het
Ntrk1 A T 3: 87,693,366 (GRCm39) N255K possibly damaging Het
Nudt5 T G 2: 5,869,228 (GRCm39) D151E probably benign Het
Obscn A T 11: 58,892,858 (GRCm39) L6796Q probably benign Het
Or10p21 C T 10: 128,847,802 (GRCm39) A216V probably benign Het
Or4k2 A G 14: 50,423,999 (GRCm39) I225T possibly damaging Het
Oxct2b A G 4: 123,010,838 (GRCm39) T253A probably benign Het
Patl1 G A 19: 11,891,725 (GRCm39) C10Y probably damaging Het
Pikfyve A G 1: 65,310,427 (GRCm39) R1905G possibly damaging Het
Pkhd1l1 A G 15: 44,402,312 (GRCm39) E2228G possibly damaging Het
Plcg1 A G 2: 160,589,986 (GRCm39) K135E probably benign Het
Proz A G 8: 13,115,319 (GRCm39) T112A probably benign Het
Prune2 A G 19: 17,099,199 (GRCm39) N1568D probably benign Het
Rbm4 A G 19: 4,837,539 (GRCm39) V431A probably benign Het
Rgs19 G T 2: 181,333,058 (GRCm39) C40* probably null Het
Rimbp3 T A 16: 17,030,884 (GRCm39) I1436K probably benign Het
Rnps1 T A 17: 24,641,176 (GRCm39) M192K probably damaging Het
Rrad C T 8: 105,355,222 (GRCm39) R262Q possibly damaging Het
Slc17a9 G A 2: 180,380,210 (GRCm39) V318I probably benign Het
Slc5a12 A G 2: 110,467,455 (GRCm39) I412V probably damaging Het
Smc4 T A 3: 68,925,491 (GRCm39) N329K probably benign Het
St3gal4 G A 9: 34,964,723 (GRCm39) R165W probably damaging Het
Strbp G A 2: 37,493,949 (GRCm39) R375* probably null Het
Tacc2 A G 7: 130,228,367 (GRCm39) N1684S possibly damaging Het
Tet1 A T 10: 62,676,063 (GRCm39) L671* probably null Het
Tex2 C A 11: 106,458,144 (GRCm39) E429* probably null Het
Tgm4 T C 9: 122,869,541 (GRCm39) I40T possibly damaging Het
Tmem132d C T 5: 127,869,676 (GRCm39) D553N probably damaging Het
Tnks A T 8: 35,320,501 (GRCm39) Y723* probably null Het
Tnks1bp1 A T 2: 84,894,320 (GRCm39) T1416S probably benign Het
Tnxb T A 17: 34,904,646 (GRCm39) L1137Q probably damaging Het
Tor4a A C 2: 25,085,202 (GRCm39) C68G probably damaging Het
Tubb2b A C 13: 34,312,445 (GRCm39) V116G probably damaging Het
Upb1 T A 10: 75,250,827 (GRCm39) S99T probably benign Het
Vmn1r31 T A 6: 58,449,083 (GRCm39) I261F unknown Het
Vmn1r53 T C 6: 90,200,571 (GRCm39) Y251C probably benign Het
Vmn2r58 T C 7: 41,513,981 (GRCm39) R221G Het
Vmn2r88 A T 14: 51,655,983 (GRCm39) I740F possibly damaging Het
Zfp644 C T 5: 106,783,503 (GRCm39) G1015R probably damaging Het
Zfy1 T C Y: 738,726 (GRCm39) D160G unknown Het
Zscan25 T A 5: 145,223,200 (GRCm39) V156E probably damaging Het
Zyg11b A T 4: 108,109,356 (GRCm39) F443I Het
Other mutations in Caap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02040:Caap1 APN 4 94,438,667 (GRCm39) missense probably damaging 0.98
IGL02542:Caap1 APN 4 94,438,742 (GRCm39) missense probably benign 0.15
IGL03162:Caap1 APN 4 94,389,261 (GRCm39) utr 3 prime probably benign
R0485:Caap1 UTSW 4 94,438,758 (GRCm39) splice site probably null
R1014:Caap1 UTSW 4 94,437,383 (GRCm39) missense probably benign 0.02
R1570:Caap1 UTSW 4 94,444,814 (GRCm39) missense probably benign 0.27
R3726:Caap1 UTSW 4 94,389,380 (GRCm39) missense probably damaging 0.99
R4745:Caap1 UTSW 4 94,444,751 (GRCm39) splice site probably null
R4815:Caap1 UTSW 4 94,389,497 (GRCm39) missense probably benign 0.01
R4970:Caap1 UTSW 4 94,409,297 (GRCm39) critical splice donor site probably null
R5143:Caap1 UTSW 4 94,389,619 (GRCm39) missense probably damaging 0.98
R5265:Caap1 UTSW 4 94,389,465 (GRCm39) nonsense probably null
R6513:Caap1 UTSW 4 94,389,640 (GRCm39) missense possibly damaging 0.90
R9619:Caap1 UTSW 4 94,444,718 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- CTTTCAGCCTAAGATGAGTTTACC -3'
(R):5'- TGCAGATGCTTATGACAGCG -3'

Sequencing Primer
(F):5'- CATGGCTTCATTCAAACAC -3'
(R):5'- CCAAGCATTGACGAAGCTGCTG -3'
Posted On 2021-08-31