Incidental Mutation 'R9619:Caap1'
ID 726573
Institutional Source Beutler Lab
Gene Symbol Caap1
Ensembl Gene ENSMUSG00000028578
Gene Name caspase activity and apoptosis inhibitor 1
Synonyms 5830433M19Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R9619 (G1)
Quality Score 101.008
Status Not validated
Chromosome 4
Chromosomal Location 94388318-94445033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94444718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 75 (V75A)
Ref Sequence ENSEMBL: ENSMUSP00000030313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030313] [ENSMUST00000094969]
AlphaFold Q8VDY9
Predicted Effect possibly damaging
Transcript: ENSMUST00000030313
AA Change: V75A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030313
Gene: ENSMUSG00000028578
AA Change: V75A

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 benign
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn T C 17: 14,101,566 (GRCm39) L1033P probably damaging Het
Agrn A G 4: 156,258,490 (GRCm39) I992T probably benign Het
Akap9 A T 5: 4,094,833 (GRCm39) E2209V probably damaging Het
Arfip1 C T 3: 84,435,081 (GRCm39) G76E probably benign Het
Arsk T C 13: 76,223,151 (GRCm39) T149A probably damaging Het
Cenpf A G 1: 189,385,965 (GRCm39) V2105A probably benign Het
Cep152 A G 2: 125,436,827 (GRCm39) F571S probably benign Het
Crx A T 7: 15,602,185 (GRCm39) D164E probably benign Het
Csgalnact1 A G 8: 68,854,006 (GRCm39) V265A probably damaging Het
Dchs1 C T 7: 105,413,662 (GRCm39) R1051Q probably benign Het
Dld A T 12: 31,382,390 (GRCm39) L471* probably null Het
Dmrtb1 G T 4: 107,540,847 (GRCm39) H171Q probably benign Het
Dnajc12 G A 10: 63,233,075 (GRCm39) R72Q probably damaging Het
Dpf1 A G 7: 29,012,618 (GRCm39) H237R probably benign Het
Dsg1c T A 18: 20,416,499 (GRCm39) L800Q probably damaging Het
Dyrk2 A T 10: 118,696,292 (GRCm39) L322Q probably damaging Het
Ect2 A G 3: 27,201,026 (GRCm39) V149A probably benign Het
Efhc1 G A 1: 21,037,603 (GRCm39) R260H probably benign Het
Emp2 G T 16: 10,102,420 (GRCm39) Q131K probably benign Het
Ephb6 T C 6: 41,594,249 (GRCm39) I593T possibly damaging Het
Fbln5 A C 12: 101,723,552 (GRCm39) I383S probably damaging Het
Foxq1 A T 13: 31,743,580 (GRCm39) E227D probably benign Het
Gm8237 A T 14: 5,863,637 (GRCm38) N9K probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ifi44 T C 3: 151,451,509 (GRCm39) N199S probably damaging Het
Ifna16 T G 4: 88,594,762 (GRCm39) D111A probably benign Het
Igdcc3 A G 9: 65,092,552 (GRCm39) D793G probably benign Het
Igfbp5 A G 1: 72,901,543 (GRCm39) V270A probably benign Het
Kif20b A C 19: 34,933,429 (GRCm39) D1345A probably damaging Het
Klhl9 T C 4: 88,639,062 (GRCm39) H393R probably benign Het
Lad1 G T 1: 135,755,521 (GRCm39) A266S possibly damaging Het
Lama2 A G 10: 27,064,282 (GRCm39) L1233P probably damaging Het
Limch1 T C 5: 67,015,284 (GRCm39) I52T probably damaging Het
Loxhd1 T C 18: 77,443,871 (GRCm39) F599L probably benign Het
Mfn1 A G 3: 32,628,478 (GRCm39) D703G possibly damaging Het
Nexmif C T X: 103,129,841 (GRCm39) R692H possibly damaging Het
Ogfod2 G A 5: 124,252,470 (GRCm39) G183D probably damaging Het
Or2z8 T C 8: 72,811,605 (GRCm39) L27S probably damaging Het
Or5aq1b T A 2: 86,902,140 (GRCm39) I113F possibly damaging Het
Pcgf6 T C 19: 47,037,261 (GRCm39) T182A possibly damaging Het
Pcnx4 T A 12: 72,622,282 (GRCm39) C1084S possibly damaging Het
Peg10 A G 6: 4,755,316 (GRCm39) N366D probably benign Het
Prr16 T A 18: 51,435,797 (GRCm39) I92K possibly damaging Het
Rbm39 A T 2: 156,001,117 (GRCm39) N312K probably damaging Het
Rps10 G A 17: 27,849,459 (GRCm39) R160C probably benign Het
Scrg1 G T 8: 57,927,363 (GRCm39) V5L unknown Het
Slc39a4 T A 15: 76,497,874 (GRCm39) H408L probably damaging Het
Slco1a5 T C 6: 142,198,846 (GRCm39) E273G probably benign Het
Syne1 A C 10: 5,090,909 (GRCm39) V815G probably benign Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Treml1 T A 17: 48,672,006 (GRCm39) F167I probably benign Het
Trpv2 T C 11: 62,480,562 (GRCm39) V333A probably damaging Het
Ubqln3 A G 7: 103,791,053 (GRCm39) F346L probably benign Het
Vmn2r15 T A 5: 109,440,622 (GRCm39) Y412F possibly damaging Het
Vmn2r61 A G 7: 41,926,136 (GRCm39) N547S probably damaging Het
Vopp1 G A 6: 57,731,617 (GRCm39) P125S probably benign Het
Wwc1 A G 11: 35,766,779 (GRCm39) F492S probably damaging Het
Zfp114 A G 7: 23,880,077 (GRCm39) E142G probably benign Het
Zfp715 A C 7: 42,949,104 (GRCm39) Y285* probably null Het
Zwilch A G 9: 64,057,440 (GRCm39) V442A probably benign 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
R8936:Caap1 UTSW 4 94,389,332 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTAATGGGGAAGGAGTACTGATC -3'
(R):5'- GAAGTCTTCCCGAGAAAAGCG -3'

Sequencing Primer
(F):5'- GAGTACTGATCAGTAAATCCAGAAAC -3'
(R):5'- CCGAGAAAAGCGGCGCAAG -3'
Posted On 2022-10-06