Incidental Mutation 'R5143:Caap1'
ID 396513
Institutional Source Beutler Lab
Gene Symbol Caap1
Ensembl Gene ENSMUSG00000028578
Gene Name caspase activity and apoptosis inhibitor 1
Synonyms 5830433M19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R5143 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 94388318-94445033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 94389619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 238 (N238K)
Ref Sequence ENSEMBL: ENSMUSP00000030313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030313]
AlphaFold Q8VDY9
Predicted Effect probably damaging
Transcript: ENSMUST00000030313
AA Change: N238K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030313
Gene: ENSMUSG00000028578
AA Change: N238K

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 noncoding transcript
Transcript: ENSMUST00000118149
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik C T 5: 109,887,064 (GRCm39) probably null Het
Abcc2 T C 19: 43,810,100 (GRCm39) I886T probably benign Het
Adrb2 T C 18: 62,311,847 (GRCm39) Y326C probably damaging Het
Aplp1 G A 7: 30,140,548 (GRCm39) R334C probably damaging Het
AY358078 T C 14: 52,040,006 (GRCm39) S39P unknown Het
Bpifb2 A T 2: 153,720,424 (GRCm39) D61V probably damaging Het
Cfap54 A G 10: 92,865,020 (GRCm39) V726A possibly damaging Het
Chrna7 T C 7: 62,755,895 (GRCm39) Y217C probably damaging Het
Crocc T A 4: 140,768,350 (GRCm39) T414S probably benign Het
Cyp2a12 A G 7: 26,736,036 (GRCm39) I482V probably benign Het
Dnah6 A T 6: 73,158,744 (GRCm39) F620I possibly damaging Het
Eogt A G 6: 97,102,545 (GRCm39) L256P probably damaging Het
F5 A G 1: 164,039,397 (GRCm39) I2002M probably damaging Het
Foxp1 A G 6: 98,922,493 (GRCm39) probably null Het
Fut8 A G 12: 77,411,983 (GRCm39) D111G probably benign Het
Golgb1 C T 16: 36,719,051 (GRCm39) A319V probably benign Het
Hoxd3 C T 2: 74,576,716 (GRCm39) R39C probably damaging Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Or52b1 T A 7: 104,978,731 (GRCm39) I223F probably damaging Het
Pate8 T A 9: 36,493,200 (GRCm39) N41Y probably benign Het
Pcdhb2 A G 18: 37,429,785 (GRCm39) Y586C probably damaging Het
Plcd1 G A 9: 118,903,519 (GRCm39) Q442* probably null Het
Plppr5 A G 3: 117,419,552 (GRCm39) T207A probably benign Het
Pomt1 C A 2: 32,144,341 (GRCm39) A709E probably benign Het
Prmt8 A G 6: 127,709,677 (GRCm39) M61T probably benign Het
Ptpn23 A G 9: 110,214,506 (GRCm39) probably benign Het
Sbf2 T A 7: 110,021,747 (GRCm39) K493* probably null Het
Semp2l2a A G 8: 13,886,844 (GRCm39) S416P possibly damaging Het
Tmc2 A T 2: 130,076,738 (GRCm39) S355C probably damaging Het
Tonsl A G 15: 76,520,857 (GRCm39) S399P possibly damaging Het
Ttc14 T C 3: 33,863,050 (GRCm39) probably benign Het
Ttn A G 2: 76,568,409 (GRCm39) S19168P probably damaging Het
Usp17lb A T 7: 104,490,685 (GRCm39) S80T probably damaging Het
Vmn2r96 A G 17: 18,804,120 (GRCm39) I457V possibly damaging Het
Wdr64 G T 1: 175,553,979 (GRCm39) D170Y probably damaging Het
Zbtb42 T C 12: 112,645,948 (GRCm39) V41A 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
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
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'- TCTGCTGGAGGAACAGTCAG -3'
(R):5'- TTCCAGATGAACTTGGGCC -3'

Sequencing Primer
(F):5'- CTTTGGGCTAGACTCTGCCAG -3'
(R):5'- CCAGATGAACTTGGGCCTTTATAG -3'
Posted On 2016-06-21