Incidental Mutation 'R1822:Cap2'
ID 206508
Institutional Source Beutler Lab
Gene Symbol Cap2
Ensembl Gene ENSMUSG00000021373
Gene Name CAP, adenylate cyclase-associated protein, 2 (yeast)
Synonyms
MMRRC Submission 039850-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # R1822 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 46501848-46650281 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46615347 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 210 (S210G)
Ref Sequence ENSEMBL: ENSMUSP00000021802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021802] [ENSMUST00000119341] [ENSMUST00000225824]
AlphaFold Q9CYT6
Predicted Effect probably benign
Transcript: ENSMUST00000021802
AA Change: S210G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000021802
Gene: ENSMUSG00000021373
AA Change: S210G

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 benign
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 noncoding transcript
Transcript: ENSMUST00000225040
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225444
Predicted Effect probably benign
Transcript: ENSMUST00000225824
AA Change: S155G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Meta Mutation Damage Score 0.0929 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.7%
Validation Efficiency 97% (105/108)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930021J03Rik T C 19: 29,716,414 (GRCm38) N1960S probably damaging Het
Abca8b G T 11: 109,957,075 (GRCm38) T798K possibly damaging Het
Abtb1 T C 6: 88,836,554 (GRCm38) T401A probably benign Het
Adsl G T 15: 80,962,742 (GRCm38) E70* probably null Het
Ahcyl2 A G 6: 29,768,584 (GRCm38) probably benign Het
AI314180 A G 4: 58,805,539 (GRCm38) probably null Het
Akr1a1 A G 4: 116,636,653 (GRCm38) V310A probably benign Het
Alpk3 T A 7: 81,076,931 (GRCm38) C121* probably null Het
Amph T A 13: 18,948,455 (GRCm38) I8N probably damaging Het
Ano2 G A 6: 125,863,457 (GRCm38) A364T probably damaging Het
Apbb2 T C 5: 66,400,177 (GRCm38) T314A probably benign Het
Arsi G A 18: 60,916,651 (GRCm38) G202E probably benign Het
Atf7ip A G 6: 136,587,260 (GRCm38) T834A probably benign Het
Brca2 T G 5: 150,540,198 (GRCm38) D1142E probably benign Het
Capn2 C A 1: 182,472,960 (GRCm38) E596D possibly damaging Het
Cdc27 A T 11: 104,522,822 (GRCm38) S358R probably benign Het
Cdhr3 C T 12: 33,045,205 (GRCm38) G622S probably null Het
Clip2 A G 5: 134,503,227 (GRCm38) Y540H probably benign Het
Crhr1 A T 11: 104,133,072 (GRCm38) M1L probably benign Het
Csmd1 T C 8: 16,223,326 (GRCm38) T831A probably damaging Het
Cwc22 T C 2: 77,924,659 (GRCm38) probably benign Het
Cyp3a25 T A 5: 145,984,953 (GRCm38) K390N probably damaging Het
Cyp4a31 T C 4: 115,566,613 (GRCm38) probably null Het
Cytip A C 2: 58,134,146 (GRCm38) S221A probably benign Het
Dagla G A 19: 10,263,186 (GRCm38) R227C possibly damaging Het
Dhx57 A G 17: 80,253,085 (GRCm38) probably null Het
Dnah2 A T 11: 69,514,804 (GRCm38) D627E probably damaging Het
Dock8 A G 19: 25,161,058 (GRCm38) E1249G probably benign Het
Dpysl3 A G 18: 43,342,328 (GRCm38) V31A probably benign Het
Fan1 T C 7: 64,372,806 (GRCm38) N233S probably benign Het
Fras1 A T 5: 96,770,688 (GRCm38) I3528F probably damaging Het
Glipr1 T A 10: 111,996,860 (GRCm38) M58L possibly damaging Het
Gm10509 C T 17: 21,690,858 (GRCm38) P31S possibly damaging Het
Gm5070 T C 3: 95,411,044 (GRCm38) noncoding transcript Het
Gramd1a T C 7: 31,142,573 (GRCm38) N138S probably damaging Het
Grk5 T C 19: 61,089,972 (GRCm38) V489A probably damaging Het
Hmcn2 C T 2: 31,383,692 (GRCm38) S1352L probably damaging Het
Hoxa5 G A 6: 52,202,732 (GRCm38) T221I probably damaging Het
Hsd17b2 C A 8: 117,758,749 (GRCm38) P317Q possibly damaging Het
Ifi213 T A 1: 173,589,842 (GRCm38) S335C probably damaging Het
Izumo4 A T 10: 80,703,895 (GRCm38) D156V probably damaging Het
Khnyn A T 14: 55,885,852 (GRCm38) E21V probably damaging Het
Kmt2d C T 15: 98,861,780 (GRCm38) G1199E unknown Het
Lipk T C 19: 34,039,091 (GRCm38) W240R probably benign Het
Lpar5 A G 6: 125,081,415 (GRCm38) D33G possibly damaging Het
Lrp11 A G 10: 7,596,197 (GRCm38) D219G probably damaging Het
Lrrcc1 T C 3: 14,559,225 (GRCm38) probably benign Het
Man2a1 T C 17: 64,740,842 (GRCm38) C252R probably damaging Het
Map2k5 A G 9: 63,235,303 (GRCm38) F354L possibly damaging Het
Mlh3 T C 12: 85,266,145 (GRCm38) probably benign Het
Mmp28 A G 11: 83,444,219 (GRCm38) I331T probably damaging Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Myo3a A T 2: 22,340,280 (GRCm38) Y509F probably damaging Het
Nckap1 A G 2: 80,517,898 (GRCm38) S898P possibly damaging Het
Nectin1 T A 9: 43,791,077 (GRCm38) Y40* probably null Het
Neurl1a T A 19: 47,257,459 (GRCm38) V493E probably benign Het
Ntf3 A C 6: 126,102,246 (GRCm38) I99S probably benign Het
Olfr1115 T C 2: 87,252,710 (GRCm38) S258P possibly damaging Het
Olfr1386 T A 11: 49,470,968 (GRCm38) F272L probably benign Het
Olfr318 A T 11: 58,720,307 (GRCm38) V247E probably damaging Het
Olfr365 C G 2: 37,201,980 (GRCm38) H246Q probably damaging Het
Olfr406 A G 11: 74,270,240 (GRCm38) T284A probably benign Het
Olfr421-ps1 C T 1: 174,152,214 (GRCm38) R233C probably benign Het
Olfr94 A G 17: 37,196,831 (GRCm38) probably benign Het
Otof G A 5: 30,378,710 (GRCm38) T1343I probably benign Het
Otop2 A T 11: 115,324,628 (GRCm38) Y125F probably benign Het
Pate3 G A 9: 35,646,105 (GRCm38) T85I probably benign Het
Pdpk1 A T 17: 24,098,176 (GRCm38) probably benign Het
Phf11d T C 14: 59,356,329 (GRCm38) H132R probably benign Het
Pik3c3 G A 18: 30,344,077 (GRCm38) probably null Het
Pkhd1 C A 1: 20,347,457 (GRCm38) G2490V probably damaging Het
Prkdc G A 16: 15,759,605 (GRCm38) D2372N probably damaging Het
Ptprq C T 10: 107,718,478 (GRCm38) E129K probably damaging Het
Pym1 G A 10: 128,766,044 (GRCm38) probably benign Het
Ralgapb T A 2: 158,492,452 (GRCm38) V1027E probably damaging Het
Rita1 T C 5: 120,609,580 (GRCm38) T218A possibly damaging Het
Rrh T A 3: 129,812,633 (GRCm38) T218S probably damaging Het
Scaper C T 9: 55,859,900 (GRCm38) A416T probably damaging Het
Scn3a A G 2: 65,484,372 (GRCm38) L1115P probably damaging Het
Serpinb6e A T 13: 33,833,234 (GRCm38) S268T probably damaging Het
Slc1a6 G A 10: 78,812,931 (GRCm38) W495* probably null Het
Slc32a1 A G 2: 158,611,378 (GRCm38) H46R probably benign Het
Slc37a1 C T 17: 31,300,431 (GRCm38) probably benign Het
Slc6a5 T A 7: 49,956,425 (GRCm38) W694R probably benign Het
Smarcd2 A T 11: 106,267,396 (GRCm38) D113E probably benign Het
Sod3 G T 5: 52,368,162 (GRCm38) V68L probably benign Het
Srpk3 G A X: 73,777,955 (GRCm38) R425Q possibly damaging Het
Sspo A T 6: 48,492,886 (GRCm38) Q4506L possibly damaging Het
Stam2 T A 2: 52,716,527 (GRCm38) E115D probably damaging Het
Sult1c1 A T 17: 53,973,925 (GRCm38) L50H probably damaging Het
Tbc1d22a T C 15: 86,235,569 (GRCm38) V22A possibly damaging Het
Togaram1 T G 12: 64,995,635 (GRCm38) V1156G probably damaging Het
Tpp1 T C 7: 105,749,647 (GRCm38) T192A probably benign Het
Ttc37 C A 13: 76,130,288 (GRCm38) H574N probably benign Het
Ush1c A G 7: 46,209,901 (GRCm38) L498P probably damaging Het
Vit A C 17: 78,622,836 (GRCm38) Q410P probably benign Het
Vmn2r27 C T 6: 124,231,634 (GRCm38) G51S probably benign Het
Zfp341 A G 2: 154,646,134 (GRCm38) E839G possibly damaging Het
Zhx3 G A 2: 160,780,355 (GRCm38) L631F probably benign Het
Zmpste24 T C 4: 121,087,316 (GRCm38) E95G possibly damaging 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
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
R5666:Cap2 UTSW 13 46,531,083 (GRCm38) splice site 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'- GGGTTACCCACATTCTCAGTG -3'
(R):5'- AGGCTAACCATTTCCTGCTCTG -3'

Sequencing Primer
(F):5'- TGGCTCCAGGACTCCTC -3'
(R):5'- TCTGCAGGCGGTCAACAGAG -3'
Posted On 2014-06-23