Incidental Mutation 'R5666:Cap2'
ID 444446
Institutional Source Beutler Lab
Gene Symbol Cap2
Ensembl Gene ENSMUSG00000021373
Gene Name CAP, adenylate cyclase-associated protein, 2 (yeast)
Synonyms
MMRRC Submission 043309-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R5666 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 46501848-46650281 bp(+) (GRCm38)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to A at 46531083 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021802] [ENSMUST00000119341] [ENSMUST00000225824]
AlphaFold Q9CYT6
Predicted Effect probably null
Transcript: ENSMUST00000021802
SMART Domains Protein: ENSMUSP00000021802
Gene: ENSMUSG00000021373

DomainStartEndE-ValueType
Pfam:CAP_N 5 301 2.6e-117 PFAM
CARP 358 395 1.06e-10 SMART
CARP 396 433 1.12e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000119341
SMART Domains Protein: ENSMUSP00000112952
Gene: ENSMUSG00000021373

DomainStartEndE-ValueType
Pfam:CAP_N 4 105 1.8e-25 PFAM
Pfam:CAP_N 99 198 8.2e-29 PFAM
CARP 246 283 1.06e-10 SMART
CARP 284 321 1.12e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000225824
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by its similarity to the gene for human adenylyl cyclase-associated protein. The function of the protein encoded by this gene is unknown. However, the protein appears to be able to interact with adenylyl cyclase-associated protein and actin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are smaller, prone to eye infections and show microphthalmia, cardiac conduction defects and dilated cardiomyopathy, predominantly in males. Males are underrepresented at weaning and ~70% die suddenly by 12 weeks of age, whereas females survive at nearly expected levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930524J08Rik T C 5: 99,979,209 (GRCm38) probably benign Het
Abce1 C A 8: 79,690,277 (GRCm38) E368D probably benign Het
Bmper T A 9: 23,473,463 (GRCm38) M588K probably damaging Het
Bop1 T C 15: 76,454,233 (GRCm38) E503G probably benign Het
Btla A T 16: 45,250,419 (GRCm38) D247V probably damaging Het
Chd2 A T 7: 73,441,717 (GRCm38) I1592K probably benign Het
Chd3 T C 11: 69,353,351 (GRCm38) E1202G possibly damaging Het
Cmya5 T C 13: 93,045,949 (GRCm38) I3568V possibly damaging Het
Col4a4 A G 1: 82,485,579 (GRCm38) probably null Het
Cpxm2 C T 7: 132,054,896 (GRCm38) E546K probably benign Het
Cyp2j5 C T 4: 96,658,693 (GRCm38) V195I probably benign Het
Ddb2 C T 2: 91,212,581 (GRCm38) V353M probably damaging Het
Dscam G A 16: 96,718,164 (GRCm38) T791I probably benign Het
Dtd2 T A 12: 51,999,860 (GRCm38) L65F probably damaging Het
E2f1 T A 2: 154,569,181 (GRCm38) probably benign Het
Ephb3 A G 16: 21,222,491 (GRCm38) N732S probably benign Het
Fkbp10 G T 11: 100,423,526 (GRCm38) W384L probably damaging Het
Foxm1 C T 6: 128,373,167 (GRCm38) S339L possibly damaging Het
Fzd6 A T 15: 39,031,115 (GRCm38) R225S probably benign Het
Gfpt1 A T 6: 87,053,813 (GRCm38) I60F possibly damaging Het
Glce A G 9: 62,060,511 (GRCm38) S453P probably damaging Het
Gm38100 C T 1: 175,921,613 (GRCm38) T415M probably damaging Het
Gm4787 G A 12: 81,378,031 (GRCm38) T451I probably benign Het
Hs2st1 A T 3: 144,569,793 (GRCm38) V22E probably damaging Het
Hspa9 T C 18: 34,954,247 (GRCm38) I2V probably null Het
Ikzf2 A G 1: 69,577,900 (GRCm38) V96A probably benign Het
Ilkap T C 1: 91,391,141 (GRCm38) T38A probably benign Het
Lpin3 A G 2: 160,897,330 (GRCm38) T353A probably benign Het
Myh1 T A 11: 67,221,352 (GRCm38) I1744N probably benign Het
Nadsyn1 C T 7: 143,807,431 (GRCm38) G335S probably damaging Het
Ndc1 T C 4: 107,389,526 (GRCm38) V382A possibly damaging Het
Ndufaf4 A T 4: 24,898,636 (GRCm38) D64V probably damaging Het
Nfe2l2 T C 2: 75,677,118 (GRCm38) T213A probably benign Het
Nkain4 A G 2: 180,943,202 (GRCm38) L73P probably damaging Het
Nmt1 C T 11: 103,058,215 (GRCm38) R299* probably null Het
Or1j20 T A 2: 36,870,389 (GRCm38) D274E probably benign Het
Or2y8 A C 11: 52,144,698 (GRCm38) Y277* probably null Het
Or4b12 T C 2: 90,265,964 (GRCm38) I155M probably benign Het
Or5k1 G A 16: 58,797,061 (GRCm38) P262S possibly damaging Het
Padi2 G T 4: 140,949,231 (GRCm38) R560L possibly damaging Het
Palmd T C 3: 116,924,101 (GRCm38) N249S possibly damaging Het
Pde1c A C 6: 56,126,857 (GRCm38) probably null Het
Pdgfra T C 5: 75,173,495 (GRCm38) S410P probably benign Het
Phldb1 T C 9: 44,715,781 (GRCm38) M456V probably damaging Het
Pla2g2d T A 4: 138,780,280 (GRCm38) C82S probably damaging Het
Rgs21 A G 1: 144,536,942 (GRCm38) V48A probably benign Het
Rnd2 C T 11: 101,468,999 (GRCm38) L57F probably damaging Het
Slc4a2 G T 5: 24,434,838 (GRCm38) V506L probably damaging Het
Slc7a4 A G 16: 17,575,951 (GRCm38) probably benign Het
Sptbn5 C G 2: 120,085,567 (GRCm38) probably benign Het
Sstr2 T A 11: 113,624,713 (GRCm38) W153R probably damaging Het
Steap2 C T 5: 5,673,681 (GRCm38) V400I probably benign Het
Syne2 G A 12: 75,950,959 (GRCm38) G2236D probably benign Het
Tas2r130 T C 6: 131,630,379 (GRCm38) N151S possibly damaging Het
Tex52 T C 6: 128,375,555 (GRCm38) S13P probably benign Het
Tmprss13 A G 9: 45,344,955 (GRCm38) I456V probably damaging Het
Trim24 T C 6: 37,965,601 (GRCm38) F946S probably benign Het
Vmn2r10 A T 5: 108,999,044 (GRCm38) Y459* probably null Het
Vwa1 A G 4: 155,774,465 (GRCm38) L13P probably damaging Het
Zfp648 C A 1: 154,204,217 (GRCm38) Q41K probably benign Het
Other mutations in Cap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01810:Cap2 APN 13 46,639,949 (GRCm38) splice site probably benign
IGL01927:Cap2 APN 13 46,635,633 (GRCm38) missense probably benign 0.03
IGL02213:Cap2 APN 13 46,635,611 (GRCm38) splice site probably benign
IGL02511:Cap2 APN 13 46,531,022 (GRCm38) start codon destroyed probably null 0.12
IGL02871:Cap2 APN 13 46,525,492 (GRCm38) missense probably benign 0.00
R0063:Cap2 UTSW 13 46,638,032 (GRCm38) splice site probably benign
R0063:Cap2 UTSW 13 46,638,032 (GRCm38) splice site probably benign
R0234:Cap2 UTSW 13 46,638,022 (GRCm38) critical splice donor site probably null
R0234:Cap2 UTSW 13 46,638,022 (GRCm38) critical splice donor site probably null
R0385:Cap2 UTSW 13 46,560,547 (GRCm38) missense probably damaging 1.00
R0387:Cap2 UTSW 13 46,560,516 (GRCm38) missense probably damaging 0.99
R0712:Cap2 UTSW 13 46,615,361 (GRCm38) splice site probably null
R1489:Cap2 UTSW 13 46,609,635 (GRCm38) missense probably damaging 1.00
R1666:Cap2 UTSW 13 46,615,323 (GRCm38) missense probably damaging 0.98
R1668:Cap2 UTSW 13 46,615,323 (GRCm38) missense probably damaging 0.98
R1676:Cap2 UTSW 13 46,637,859 (GRCm38) missense probably damaging 1.00
R1756:Cap2 UTSW 13 46,531,013 (GRCm38) missense probably benign 0.11
R1822:Cap2 UTSW 13 46,615,347 (GRCm38) missense probably benign 0.03
R1867:Cap2 UTSW 13 46,640,079 (GRCm38) missense probably damaging 1.00
R1972:Cap2 UTSW 13 46,637,899 (GRCm38) missense probably damaging 0.98
R1990:Cap2 UTSW 13 46,637,881 (GRCm38) missense possibly damaging 0.93
R1991:Cap2 UTSW 13 46,637,881 (GRCm38) missense possibly damaging 0.93
R1992:Cap2 UTSW 13 46,637,881 (GRCm38) missense possibly damaging 0.93
R2144:Cap2 UTSW 13 46,560,502 (GRCm38) critical splice acceptor site probably null
R3039:Cap2 UTSW 13 46,639,841 (GRCm38) missense probably benign 0.20
R4024:Cap2 UTSW 13 46,637,841 (GRCm38) splice site probably benign
R4554:Cap2 UTSW 13 46,635,774 (GRCm38) missense probably damaging 1.00
R4748:Cap2 UTSW 13 46,639,826 (GRCm38) missense possibly damaging 0.64
R4821:Cap2 UTSW 13 46,610,110 (GRCm38) missense probably damaging 0.99
R4876:Cap2 UTSW 13 46,531,021 (GRCm38) start codon destroyed probably null
R4902:Cap2 UTSW 13 46,531,025 (GRCm38) missense probably damaging 0.99
R5320:Cap2 UTSW 13 46,648,364 (GRCm38) makesense probably null
R5670:Cap2 UTSW 13 46,531,083 (GRCm38) splice site probably null
R6086:Cap2 UTSW 13 46,635,712 (GRCm38) missense probably damaging 1.00
R6728:Cap2 UTSW 13 46,639,859 (GRCm38) missense possibly damaging 0.87
R6842:Cap2 UTSW 13 46,646,625 (GRCm38) missense probably damaging 1.00
R7785:Cap2 UTSW 13 46,635,748 (GRCm38) missense probably benign
R7889:Cap2 UTSW 13 46,646,575 (GRCm38) missense probably damaging 0.99
R8065:Cap2 UTSW 13 46,637,861 (GRCm38) missense probably damaging 1.00
R8205:Cap2 UTSW 13 46,615,263 (GRCm38) missense probably damaging 1.00
R8425:Cap2 UTSW 13 46,609,732 (GRCm38) missense probably damaging 0.98
R8731:Cap2 UTSW 13 46,646,530 (GRCm38) missense probably benign 0.00
R8738:Cap2 UTSW 13 46,531,072 (GRCm38) missense probably benign 0.00
R9320:Cap2 UTSW 13 46,615,342 (GRCm38) missense probably benign 0.04
R9491:Cap2 UTSW 13 46,637,890 (GRCm38) missense possibly damaging 0.92
R9686:Cap2 UTSW 13 46,525,450 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCATGTGACCTGTGGCAAG -3'
(R):5'- ACAGCCCTGATTCTAGCACTC -3'

Sequencing Primer
(F):5'- GAGTAACCAAGCCGTTCT -3'
(R):5'- GGTAGTACCTATAATACTGCAGTTGG -3'
Posted On 2016-11-09