Incidental Mutation 'R4902:Cap2'
ID 377895
Institutional Source Beutler Lab
Gene Symbol Cap2
Ensembl Gene ENSMUSG00000021373
Gene Name cyclase associated actin cytoskeleton regulatory protein 2
Synonyms 2810452G09Rik
MMRRC Submission 042505-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R4902 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 46655379-46803757 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46684501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 2 (V2A)
Ref Sequence ENSEMBL: ENSMUSP00000153125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021802] [ENSMUST00000119341] [ENSMUST00000225824]
AlphaFold Q9CYT6
Predicted Effect probably benign
Transcript: ENSMUST00000021802
AA Change: V57A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000021802
Gene: ENSMUSG00000021373
AA Change: V57A

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 damaging
Transcript: ENSMUST00000119341
AA Change: V57A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112952
Gene: ENSMUSG00000021373
AA Change: V57A

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 damaging
Transcript: ENSMUST00000225824
AA Change: V2A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Meta Mutation Damage Score 0.6090 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.0%
Validation Efficiency 100% (84/84)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930488N24Rik T C 17: 14,326,408 (GRCm39) noncoding transcript Het
Adamdec1 T C 14: 68,809,215 (GRCm39) N249S probably damaging Het
Asxl1 T A 2: 153,241,751 (GRCm39) V767E probably benign Het
Atp6v1f T C 6: 29,470,271 (GRCm39) probably benign Het
Brix1 T C 15: 10,483,378 (GRCm39) probably null Het
Chrnb2 A G 3: 89,668,248 (GRCm39) C356R probably damaging Het
Chtf8 C T 8: 107,612,424 (GRCm39) G172R probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dact2 T A 17: 14,416,991 (GRCm39) K403M possibly damaging Het
Dhx40 A C 11: 86,662,036 (GRCm39) L674V possibly damaging Het
Dlc1 A G 8: 37,044,285 (GRCm39) V1230A probably damaging Het
Dnah7b T A 1: 46,329,935 (GRCm39) S3260T probably benign Het
Eef1a2 T A 2: 180,789,881 (GRCm39) D428V probably benign Het
Ehd1 T C 19: 6,344,273 (GRCm39) F178L possibly damaging Het
Eif4a3l1 T G 6: 136,306,262 (GRCm39) V241G probably benign Het
F2 A T 2: 91,465,316 (GRCm39) probably benign Het
Fam186a T C 15: 99,844,723 (GRCm39) D507G unknown Het
Fbxo11 G A 17: 88,372,702 (GRCm39) probably benign Het
Fry A T 5: 150,419,168 (GRCm39) M2871L probably benign Het
Gabrr2 A G 4: 33,095,512 (GRCm39) D442G probably damaging Het
Gemin5 A G 11: 58,055,103 (GRCm39) I214T probably benign Het
Gfra2 A G 14: 71,204,455 (GRCm39) N175S probably damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Jhy C T 9: 40,808,821 (GRCm39) probably benign Het
Krtap5-5 A T 7: 141,783,156 (GRCm39) C165S unknown Het
Lce1k T A 3: 92,714,134 (GRCm39) T17S unknown Het
Map3k1 C T 13: 111,909,146 (GRCm39) R268Q probably damaging Het
Med13l T A 5: 118,883,195 (GRCm39) H1351Q probably damaging Het
Met T C 6: 17,546,995 (GRCm39) V876A probably damaging Het
Mical2 T C 7: 111,936,107 (GRCm39) S903P probably benign Het
Mkks A G 2: 136,718,094 (GRCm39) V396A probably benign Het
Mvk T C 5: 114,594,060 (GRCm39) V305A probably benign Het
Myo5a A G 9: 75,081,360 (GRCm39) T982A probably benign Het
N4bp1 A G 8: 87,588,311 (GRCm39) V209A probably benign Het
Nfkbib G T 7: 28,461,173 (GRCm39) S158* probably null Het
Nkx3-1 G A 14: 69,428,367 (GRCm39) G72S probably benign Het
Ogfr A G 2: 180,235,518 (GRCm39) probably benign Het
Or10a3 G A 7: 108,480,624 (GRCm39) T63I probably benign Het
Or2t43 G A 11: 58,457,451 (GRCm39) S240F possibly damaging Het
Or8s8 T C 15: 98,354,796 (GRCm39) S202P probably damaging Het
Pcdhga8 T A 18: 37,948,978 (GRCm39) D131E probably damaging Het
Plch1 A G 3: 63,648,264 (GRCm39) probably benign Het
Polrmt A G 10: 79,582,385 (GRCm39) M1T probably null Het
Ppp1r12a T C 10: 108,066,451 (GRCm39) V214A probably damaging Het
Prr5l A G 2: 101,628,027 (GRCm39) probably benign Het
Prss35 A G 9: 86,638,175 (GRCm39) Q315R probably damaging Het
Psg29 G T 7: 16,945,837 (GRCm39) *469L probably null Het
Psmd4 A G 3: 94,943,170 (GRCm39) V78A probably damaging Het
Rad9a C A 19: 4,251,552 (GRCm39) probably benign Het
Rfx7 G T 9: 72,524,573 (GRCm39) V588F probably benign Het
Rnase13 A C 14: 52,160,052 (GRCm39) I29S probably benign Het
Steap2 T C 5: 5,725,866 (GRCm39) N386S possibly damaging Het
Ston1 A G 17: 88,952,680 (GRCm39) E719G probably damaging Het
Stx4a A G 7: 127,441,934 (GRCm39) probably null Het
Tekt2 A G 4: 126,217,263 (GRCm39) S212P possibly damaging Het
Tex19.2 A T 11: 121,007,782 (GRCm39) L222Q probably damaging Het
Tmem50a A G 4: 134,637,017 (GRCm39) I38T probably damaging Het
Ubr2 A G 17: 47,296,922 (GRCm39) V286A possibly damaging Het
Ugt2b35 T C 5: 87,151,159 (GRCm39) M255T possibly damaging Het
Vmn2r17 T A 5: 109,601,220 (GRCm39) F839L probably benign Het
Wdr36 T C 18: 32,992,314 (GRCm39) V617A possibly damaging Het
Wtip A T 7: 33,818,437 (GRCm39) probably null Het
Yeats2 G A 16: 20,026,418 (GRCm39) G765S probably benign Het
Zbtb3 T C 19: 8,781,331 (GRCm39) S315P probably benign Het
Zdhhc8 T C 16: 18,045,030 (GRCm39) M259V probably benign Het
Zfp120 A G 2: 149,961,440 (GRCm39) probably benign Het
Zfp236 A T 18: 82,627,543 (GRCm39) I1552N possibly damaging Het
Other mutations in Cap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01810:Cap2 APN 13 46,793,425 (GRCm39) splice site probably benign
IGL01927:Cap2 APN 13 46,789,109 (GRCm39) missense probably benign 0.03
IGL02213:Cap2 APN 13 46,789,087 (GRCm39) splice site probably benign
IGL02511:Cap2 APN 13 46,684,498 (GRCm39) start codon destroyed probably null 0.12
IGL02871:Cap2 APN 13 46,678,968 (GRCm39) missense probably benign 0.00
R0063:Cap2 UTSW 13 46,791,508 (GRCm39) splice site probably benign
R0063:Cap2 UTSW 13 46,791,508 (GRCm39) splice site probably benign
R0234:Cap2 UTSW 13 46,791,498 (GRCm39) critical splice donor site probably null
R0234:Cap2 UTSW 13 46,791,498 (GRCm39) critical splice donor site probably null
R0385:Cap2 UTSW 13 46,714,023 (GRCm39) missense probably damaging 1.00
R0387:Cap2 UTSW 13 46,713,992 (GRCm39) missense probably damaging 0.99
R0712:Cap2 UTSW 13 46,768,837 (GRCm39) splice site probably null
R1489:Cap2 UTSW 13 46,763,111 (GRCm39) missense probably damaging 1.00
R1666:Cap2 UTSW 13 46,768,799 (GRCm39) missense probably damaging 0.98
R1668:Cap2 UTSW 13 46,768,799 (GRCm39) missense probably damaging 0.98
R1676:Cap2 UTSW 13 46,791,335 (GRCm39) missense probably damaging 1.00
R1756:Cap2 UTSW 13 46,684,489 (GRCm39) missense probably benign 0.11
R1822:Cap2 UTSW 13 46,768,823 (GRCm39) missense probably benign 0.03
R1867:Cap2 UTSW 13 46,793,555 (GRCm39) missense probably damaging 1.00
R1972:Cap2 UTSW 13 46,791,375 (GRCm39) missense probably damaging 0.98
R1990:Cap2 UTSW 13 46,791,357 (GRCm39) missense possibly damaging 0.93
R1991:Cap2 UTSW 13 46,791,357 (GRCm39) missense possibly damaging 0.93
R1992:Cap2 UTSW 13 46,791,357 (GRCm39) missense possibly damaging 0.93
R2144:Cap2 UTSW 13 46,713,978 (GRCm39) critical splice acceptor site probably null
R3039:Cap2 UTSW 13 46,793,317 (GRCm39) missense probably benign 0.20
R4024:Cap2 UTSW 13 46,791,317 (GRCm39) splice site probably benign
R4554:Cap2 UTSW 13 46,789,250 (GRCm39) missense probably damaging 1.00
R4748:Cap2 UTSW 13 46,793,302 (GRCm39) missense possibly damaging 0.64
R4821:Cap2 UTSW 13 46,763,586 (GRCm39) missense probably damaging 0.99
R4876:Cap2 UTSW 13 46,684,497 (GRCm39) start codon destroyed probably null
R5320:Cap2 UTSW 13 46,801,840 (GRCm39) makesense probably null
R5666:Cap2 UTSW 13 46,684,559 (GRCm39) splice site probably null
R5670:Cap2 UTSW 13 46,684,559 (GRCm39) splice site probably null
R6086:Cap2 UTSW 13 46,789,188 (GRCm39) missense probably damaging 1.00
R6728:Cap2 UTSW 13 46,793,335 (GRCm39) missense possibly damaging 0.87
R6842:Cap2 UTSW 13 46,800,101 (GRCm39) missense probably damaging 1.00
R7785:Cap2 UTSW 13 46,789,224 (GRCm39) missense probably benign
R7889:Cap2 UTSW 13 46,800,051 (GRCm39) missense probably damaging 0.99
R8065:Cap2 UTSW 13 46,791,337 (GRCm39) missense probably damaging 1.00
R8205:Cap2 UTSW 13 46,768,739 (GRCm39) missense probably damaging 1.00
R8425:Cap2 UTSW 13 46,763,208 (GRCm39) missense probably damaging 0.98
R8731:Cap2 UTSW 13 46,800,006 (GRCm39) missense probably benign 0.00
R8738:Cap2 UTSW 13 46,684,548 (GRCm39) missense probably benign 0.00
R9320:Cap2 UTSW 13 46,768,818 (GRCm39) missense probably benign 0.04
R9491:Cap2 UTSW 13 46,791,366 (GRCm39) missense possibly damaging 0.92
R9686:Cap2 UTSW 13 46,678,926 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATCGTAAATGTGGGGTGAGCG -3'
(R):5'- GGGCAGAACTCTCTTGTCTC -3'

Sequencing Primer
(F):5'- TGAGCGGAGGAATGAGTGACTG -3'
(R):5'- GAATTCCTGGTACCTTCTGATGC -3'
Posted On 2016-04-15