Incidental Mutation 'R4745:Caap1'
ID 426209
Institutional Source Beutler Lab
Gene Symbol Caap1
Ensembl Gene ENSMUSG00000028578
Gene Name caspase activity and apoptosis inhibitor 1
Synonyms 5830433M19Rik
MMRRC Submission 042028-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R4745 (G1)
Quality Score 41
Status Validated
Chromosome 4
Chromosomal Location 94388318-94445033 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 94444751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000092576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030313] [ENSMUST00000094969]
AlphaFold Q8VDY9
Predicted Effect probably benign
Transcript: ENSMUST00000030313
AA Change: R64L

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000030313
Gene: ENSMUSG00000028578
AA Change: R64L

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
Predicted Effect probably null
Transcript: ENSMUST00000094969
SMART Domains Protein: ENSMUSP00000092576
Gene: ENSMUSG00000070900

DomainStartEndE-ValueType
low complexity region 3 21 N/A INTRINSIC
low complexity region 73 87 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153294
Meta Mutation Damage Score 0.1116 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 97% (89/92)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,526,427 (GRCm39) Y619C probably damaging Het
Adck1 A G 12: 88,368,949 (GRCm39) probably null Het
Agap3 A C 5: 24,656,123 (GRCm39) probably null Het
Ankib1 A T 5: 3,782,566 (GRCm39) H354Q probably damaging Het
Ankrd29 T G 18: 12,387,679 (GRCm39) N301T probably benign Het
Arhgef4 A G 1: 34,846,356 (GRCm39) T379A probably damaging Het
Arid1a A G 4: 133,480,417 (GRCm39) V169A probably benign Het
Bag2 T C 1: 33,787,417 (GRCm39) probably null Het
Bmt2 A C 6: 13,628,686 (GRCm39) Y332* probably null Het
Bpifb1 A T 2: 154,053,501 (GRCm39) K248* probably null Het
Calcr T A 6: 3,692,576 (GRCm39) Y389F probably damaging Het
Capn1 C T 19: 6,043,946 (GRCm39) V562I probably benign Het
Ccr1 T A 9: 123,763,985 (GRCm39) T182S probably benign Het
Ceacam15 T C 7: 16,407,259 (GRCm39) D86G probably benign Het
Cldnd1 C T 16: 58,550,006 (GRCm39) T63I probably benign Het
Col12a1 A T 9: 79,559,368 (GRCm39) probably null Het
Cystm1 A G 18: 36,526,348 (GRCm39) probably benign Het
Ddx55 T A 5: 124,705,028 (GRCm39) Y428* probably null Het
Ensa G A 3: 95,538,745 (GRCm39) G118D probably benign Het
Folh1 A T 7: 86,372,482 (GRCm39) probably null Het
Foxj2 C A 6: 122,814,948 (GRCm39) P328Q probably damaging Het
Fscn3 A G 6: 28,435,627 (GRCm39) I417V probably damaging Het
Galnt7 T C 8: 57,995,761 (GRCm39) probably benign Het
Gm11563 T A 11: 99,549,246 (GRCm39) *169C probably null Het
Hfm1 A T 5: 107,049,709 (GRCm39) D417E possibly damaging Het
Ighv15-2 A G 12: 114,528,230 (GRCm39) S107P probably damaging Het
Itsn2 A G 12: 4,711,944 (GRCm39) D904G probably damaging Het
Kif1b A T 4: 149,322,339 (GRCm39) L860* probably null Het
Krt79 T C 15: 101,839,119 (GRCm39) E450G probably damaging Het
Lama1 T C 17: 68,045,775 (GRCm39) S227P probably damaging Het
Lamp5 C A 2: 135,902,786 (GRCm39) H168Q probably benign Het
Lilra5 A T 7: 4,245,076 (GRCm39) Q240L possibly damaging Het
Lrp1 A T 10: 127,385,813 (GRCm39) C3521S probably benign Het
Mroh1 T A 15: 76,292,730 (GRCm39) probably null Het
Nlrp4g A T 9: 124,349,515 (GRCm38) noncoding transcript Het
Nr2f6 A T 8: 71,831,179 (GRCm39) I70N probably benign Het
Nr4a2 T A 2: 57,000,163 (GRCm39) D311V probably damaging Het
Odad2 G A 18: 7,286,763 (GRCm39) T156M probably benign Het
Or10w1 T A 19: 13,632,750 (GRCm39) M319K probably benign Het
Or10x4 T C 1: 174,219,442 (GRCm39) L269P probably damaging Het
Or52n20 T A 7: 104,320,711 (GRCm39) F267L probably damaging Het
Pcdhb6 C A 18: 37,468,426 (GRCm39) A449D possibly damaging Het
Pcgf6 A G 19: 47,036,545 (GRCm39) probably null Het
Prc1 C A 7: 79,962,911 (GRCm39) H131Q probably benign Het
Ptprq C A 10: 107,360,114 (GRCm39) R2187L probably damaging Het
Rasl2-9 C A 7: 5,128,702 (GRCm39) R76L possibly damaging Het
Rdh16f1 A T 10: 127,626,685 (GRCm39) Y246F probably benign Het
Rit1 T C 3: 88,624,982 (GRCm39) probably benign Het
Sash1 A G 10: 8,605,672 (GRCm39) V906A probably benign Het
Scnn1b T C 7: 121,501,509 (GRCm39) V108A probably benign Het
Sema4f A T 6: 82,895,265 (GRCm39) I356N probably damaging Het
Shc4 A T 2: 125,491,197 (GRCm39) L447Q probably damaging Het
Slc24a1 T C 9: 64,856,758 (GRCm39) M50V unknown Het
Slc28a3 T A 13: 58,722,077 (GRCm39) D269V possibly damaging Het
Slc35e1 A G 8: 73,246,166 (GRCm39) S89P possibly damaging Het
Smpd5 T A 15: 76,179,008 (GRCm39) H125Q probably benign Het
Snapc2 A G 8: 4,304,578 (GRCm39) T31A probably damaging Het
Sox5 G C 6: 143,779,214 (GRCm39) H606D possibly damaging Het
Spag6 A G 2: 18,742,107 (GRCm39) T367A possibly damaging Het
Spag8 T C 4: 43,651,636 (GRCm39) T413A probably damaging Het
Sptlc3 G A 2: 139,389,087 (GRCm39) G156R probably damaging Het
Stx19 A G 16: 62,642,783 (GRCm39) T200A probably benign Het
Tas2r116 A G 6: 132,832,668 (GRCm39) T90A probably benign Het
Tasor2 G A 13: 3,640,069 (GRCm39) T356I probably benign Het
Tbl3 A G 17: 24,924,304 (GRCm39) probably benign Het
Tekt5 G T 16: 10,213,058 (GRCm39) P76T probably damaging Het
Tjp2 C T 19: 24,074,030 (GRCm39) E1086K possibly damaging Het
Topbp1 T C 9: 103,200,770 (GRCm39) L601P probably damaging Het
Trav16 T A 14: 53,980,934 (GRCm39) M41K possibly damaging Het
Trav6-5 C A 14: 53,728,960 (GRCm39) N72K probably benign Het
Trpm3 C G 19: 22,692,659 (GRCm39) T250S possibly damaging Het
Vps35 A T 8: 85,987,891 (GRCm39) D753E probably benign Het
Vstm2a A T 11: 16,213,061 (GRCm39) N149Y probably damaging Het
Vwa2 G T 19: 56,895,318 (GRCm39) M497I probably benign Het
Zfat C A 15: 68,052,223 (GRCm39) V517L probably benign Het
Zfp169 C A 13: 48,643,708 (GRCm39) R473L possibly damaging Het
Zfp672 T C 11: 58,220,324 (GRCm39) probably benign Het
Zranb1 T C 7: 132,574,443 (GRCm39) V420A probably damaging 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
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
R8936:Caap1 UTSW 4 94,389,332 (GRCm39) missense probably damaging 1.00
R9619:Caap1 UTSW 4 94,444,718 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- AGGAGTACTGATCAGTAAATCCAG -3'
(R):5'- GAAGTCTTCCCGAGAAAAGCG -3'

Sequencing Primer
(F):5'- TTCAAACGGACTCAGAACGG -3'
(R):5'- CCGAGAAAAGCGGCGCAAG -3'
Posted On 2016-08-18