Incidental Mutation 'R0326:Ccdc88a'
ID 25879
Institutional Source Beutler Lab
Gene Symbol Ccdc88a
Ensembl Gene ENSMUSG00000032740
Gene Name coiled coil domain containing 88A
Synonyms GIV, Girdin, D130005J21Rik, HkRP1, C330012F17Rik, C130096N06Rik, A430106J12Rik
MMRRC Submission 038536-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0326 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 29323658-29460808 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 29411021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 502 (R502S)
Ref Sequence ENSEMBL: ENSMUSP00000048978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040182] [ENSMUST00000155854]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000040182
AA Change: R502S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000048978
Gene: ENSMUSG00000032740
AA Change: R502S

DomainStartEndE-ValueType
Pfam:HOOK 14 590 8.1e-36 PFAM
low complexity region 614 625 N/A INTRINSIC
Blast:BRLZ 665 719 6e-22 BLAST
low complexity region 826 839 N/A INTRINSIC
low complexity region 883 895 N/A INTRINSIC
low complexity region 955 985 N/A INTRINSIC
low complexity region 1093 1104 N/A INTRINSIC
coiled coil region 1268 1385 N/A INTRINSIC
low complexity region 1437 1444 N/A INTRINSIC
low complexity region 1566 1576 N/A INTRINSIC
internal_repeat_1 1609 1702 2.38e-6 PROSPERO
internal_repeat_1 1708 1808 2.38e-6 PROSPERO
low complexity region 1811 1824 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137227
Predicted Effect probably benign
Transcript: ENSMUST00000155854
SMART Domains Protein: ENSMUSP00000115117
Gene: ENSMUSG00000032740

DomainStartEndE-ValueType
low complexity region 18 31 N/A INTRINSIC
low complexity region 75 87 N/A INTRINSIC
low complexity region 146 176 N/A INTRINSIC
Blast:BRLZ 228 283 7e-6 BLAST
low complexity region 284 295 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.8%
  • 20x: 91.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Girdin family of coiled-coil domain containing proteins. The encoded protein is an actin-binding protein that is activated by the serine/threonine kinase Akt and plays a role in cytoskeleton remodeling and cell migration. The encoded protein also enhances Akt signaling by mediating phosphoinositide 3-kinase (PI3K)-dependent activation of Akt by growth factor receptor tyrosine kinases and G protein-coupled receptors. Increased expression of this gene and phosphorylation of the encoded protein may play a role in cancer metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal weight loss, reduced angiogenesis, and premature death by P25. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C T 1: 130,670,635 (GRCm39) P286S possibly damaging Het
Aagab T A 9: 63,526,444 (GRCm39) S156T probably damaging Het
Abca14 T G 7: 119,823,642 (GRCm39) Y390D probably damaging Het
Abcc2 T A 19: 43,814,386 (GRCm39) I1122N possibly damaging Het
Adamts16 T C 13: 70,927,730 (GRCm39) E503G possibly damaging Het
Adamts9 A T 6: 92,835,038 (GRCm39) C697* probably null Het
Adgrv1 T C 13: 81,623,112 (GRCm39) D3837G possibly damaging Het
Ahcyl T A 16: 45,974,246 (GRCm39) D377V probably benign Het
Aire T A 10: 77,878,433 (GRCm39) R128S probably damaging Het
Alkbh2 A C 5: 114,262,011 (GRCm39) *240E probably null Het
Als2 T C 1: 59,219,742 (GRCm39) Y1191C probably damaging Het
Anapc5 A T 5: 122,952,667 (GRCm39) V186E probably benign Het
Apob C T 12: 8,040,307 (GRCm39) A548V probably damaging Het
B3galt4 A T 17: 34,169,722 (GRCm39) V172E probably damaging Het
Bbs7 A C 3: 36,646,525 (GRCm39) C432G possibly damaging Het
Cacna2d3 T A 14: 28,767,601 (GRCm39) E758V probably damaging Het
Cactin T G 10: 81,158,496 (GRCm39) L154R probably benign Het
Ccnf A T 17: 24,450,784 (GRCm39) I398N possibly damaging Het
Chd1 A T 17: 15,988,828 (GRCm39) D1527V probably damaging Het
Chd1 A T 17: 15,988,830 (GRCm39) M1528L probably benign Het
Chrac1 G A 15: 72,964,675 (GRCm39) probably null Het
Cln3 T G 7: 126,182,217 (GRCm39) M1L probably damaging Het
Cnot6 T C 11: 49,568,263 (GRCm39) Y442C probably damaging Het
Col19a1 A T 1: 24,324,132 (GRCm39) probably null Het
Col1a2 T C 6: 4,537,838 (GRCm39) F1116L unknown Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cops4 T G 5: 100,676,408 (GRCm39) V53G probably damaging Het
Crnkl1 A G 2: 145,761,875 (GRCm39) S561P probably benign Het
Ctnnb1 C A 9: 120,780,778 (GRCm39) Q99K probably benign Het
Cxcr5 T C 9: 44,424,578 (GRCm39) S360G probably benign Het
Dab2 G A 15: 6,447,797 (GRCm39) V60M probably damaging Het
Ddx3y A T Y: 1,263,321 (GRCm39) Y648* probably null Het
Dennd2a T A 6: 39,474,044 (GRCm39) D430V probably damaging Het
Dsp G T 13: 38,376,846 (GRCm39) E1544* probably null Het
Efcab7 A T 4: 99,719,631 (GRCm39) M38L possibly damaging Het
Fto A G 8: 92,136,155 (GRCm39) N141S probably damaging Het
Gabrp A G 11: 33,504,362 (GRCm39) F318L probably damaging Het
Gmeb1 A C 4: 131,969,663 (GRCm39) C103W probably damaging Het
Heatr9 T C 11: 83,405,365 (GRCm39) D365G probably damaging Het
Hif3a G A 7: 16,778,325 (GRCm39) R436W probably benign Het
Hint2 A G 4: 43,654,378 (GRCm39) V145A probably damaging Het
Hmcn2 T A 2: 31,313,237 (GRCm39) L3482* probably null Het
Hsd3b1 A T 3: 98,760,590 (GRCm39) Y134N probably damaging Het
Impg2 T A 16: 56,080,848 (GRCm39) V775E probably damaging Het
Ipo5 A G 14: 121,159,635 (GRCm39) I154M probably benign Het
Itgad T A 7: 127,797,550 (GRCm39) F893Y probably benign Het
Itprid1 A T 6: 55,875,228 (GRCm39) M393L possibly damaging Het
Kdm4a T C 4: 118,018,903 (GRCm39) R438G probably benign Het
Klk1b11 T A 7: 43,425,943 (GRCm39) M1K probably null Het
Lama5 A T 2: 179,824,219 (GRCm39) V2602D possibly damaging Het
Lrch3 T C 16: 32,799,870 (GRCm39) S35P probably damaging Het
Mfn2 A G 4: 147,967,745 (GRCm39) L441P probably damaging Het
Mgat4c A T 10: 102,224,565 (GRCm39) I260F probably damaging Het
Mon1b T A 8: 114,364,375 (GRCm39) S51T probably benign Het
Myh11 T C 16: 14,036,744 (GRCm39) D993G probably benign Het
Myo1a A G 10: 127,552,166 (GRCm39) N762D probably benign Het
Nacc2 A T 2: 25,950,345 (GRCm39) Y464N probably damaging Het
Nckap1 A G 2: 80,383,714 (GRCm39) I150T probably benign Het
Ndufv2 G T 17: 66,387,816 (GRCm39) P119T probably damaging Het
Noc4l G A 5: 110,800,241 (GRCm39) R95* probably null Het
Ntng1 A T 3: 110,042,819 (GRCm39) Y2* probably null Het
Oog4 T C 4: 143,165,773 (GRCm39) N53D probably benign Het
Or10ak11 A T 4: 118,687,022 (GRCm39) V205D possibly damaging Het
Or4d11 C T 19: 12,013,525 (GRCm39) V194I probably benign Het
Or6c6c A G 10: 129,541,638 (GRCm39) E297G possibly damaging Het
Or9i1b C T 19: 13,896,873 (GRCm39) T163I probably benign Het
Phkg2 T G 7: 127,173,075 (GRCm39) L11R probably damaging Het
Pogz A G 3: 94,777,424 (GRCm39) D368G probably damaging Het
Prex2 T A 1: 11,355,289 (GRCm39) L1530Q probably damaging Het
Prmt1 C T 7: 44,628,878 (GRCm39) E144K probably damaging Het
Prss8 T A 7: 127,526,348 (GRCm39) I121F probably benign Het
Psmd13 T C 7: 140,477,624 (GRCm39) L314P probably damaging Het
Ptch2 G A 4: 116,966,081 (GRCm39) G467D probably damaging Het
Rbm20 C A 19: 53,852,596 (GRCm39) P1192Q probably damaging Het
Rpl19 T A 11: 97,919,200 (GRCm39) D45E probably benign Het
Rsph10b C T 5: 143,903,946 (GRCm39) A219V probably damaging Het
Rtraf C T 14: 19,864,600 (GRCm39) probably null Het
Scaf1 T A 7: 44,658,175 (GRCm39) T235S probably damaging Het
Shank1 T A 7: 43,968,594 (GRCm39) C296S unknown Het
Slc39a7 A T 17: 34,247,924 (GRCm39) V426D probably damaging Het
Slc41a2 A T 10: 83,119,610 (GRCm39) V384D probably damaging Het
Slco1c1 T C 6: 141,505,499 (GRCm39) L475P probably benign Het
Slco6d1 A C 1: 98,418,359 (GRCm39) K515T probably benign Het
Sos2 T C 12: 69,682,459 (GRCm39) E253G probably damaging Het
Sp6 G T 11: 96,912,361 (GRCm39) D25Y possibly damaging Het
Syt11 A C 3: 88,669,855 (GRCm39) D12E possibly damaging Het
Taf2 A G 15: 54,910,856 (GRCm39) L606P probably damaging Het
Tbc1d5 A G 17: 51,273,764 (GRCm39) Y116H probably damaging Het
Tnfrsf8 A G 4: 145,015,029 (GRCm39) I243T possibly damaging Het
Tnxb A G 17: 34,917,153 (GRCm39) S2183G probably benign Het
Trim66 T C 7: 109,059,379 (GRCm39) Y853C probably benign Het
Ttn T A 2: 76,567,839 (GRCm39) T27685S probably damaging Het
Ttn T C 2: 76,573,466 (GRCm39) E25809G probably damaging Het
Uvssa G A 5: 33,566,191 (GRCm39) G445S probably benign Het
Zfp326 T C 5: 106,058,141 (GRCm39) S427P probably damaging Het
Zfp592 A G 7: 80,674,637 (GRCm39) T534A possibly damaging Het
Zfp672 A G 11: 58,207,173 (GRCm39) S383P possibly damaging Het
Zfp799 A G 17: 33,039,700 (GRCm39) S188P possibly damaging Het
Zyg11b A C 4: 108,129,450 (GRCm39) V54G possibly damaging Het
Other mutations in Ccdc88a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Ccdc88a APN 11 29,449,341 (GRCm39) missense probably benign 0.24
IGL00577:Ccdc88a APN 11 29,374,772 (GRCm39) missense probably damaging 1.00
IGL00766:Ccdc88a APN 11 29,451,046 (GRCm39) missense probably damaging 0.99
IGL01384:Ccdc88a APN 11 29,453,915 (GRCm39) missense probably damaging 0.99
IGL01541:Ccdc88a APN 11 29,350,283 (GRCm39) missense probably benign
IGL01647:Ccdc88a APN 11 29,454,321 (GRCm39) unclassified probably benign
IGL02648:Ccdc88a APN 11 29,451,051 (GRCm39) missense probably benign 0.28
IGL02885:Ccdc88a APN 11 29,398,050 (GRCm39) missense probably damaging 1.00
IGL03117:Ccdc88a APN 11 29,324,559 (GRCm39) missense probably damaging 1.00
IGL03196:Ccdc88a APN 11 29,432,340 (GRCm39) missense possibly damaging 0.56
trailor UTSW 11 29,444,099 (GRCm39) splice site probably null
R0011:Ccdc88a UTSW 11 29,324,364 (GRCm39) missense probably damaging 1.00
R0011:Ccdc88a UTSW 11 29,324,364 (GRCm39) missense probably damaging 1.00
R0083:Ccdc88a UTSW 11 29,453,463 (GRCm39) missense probably damaging 0.99
R0108:Ccdc88a UTSW 11 29,453,463 (GRCm39) missense probably damaging 0.99
R0565:Ccdc88a UTSW 11 29,411,042 (GRCm39) unclassified probably benign
R0631:Ccdc88a UTSW 11 29,443,752 (GRCm39) missense probably damaging 0.98
R0632:Ccdc88a UTSW 11 29,432,749 (GRCm39) unclassified probably benign
R0762:Ccdc88a UTSW 11 29,413,112 (GRCm39) unclassified probably benign
R0838:Ccdc88a UTSW 11 29,350,285 (GRCm39) missense probably damaging 1.00
R0946:Ccdc88a UTSW 11 29,406,509 (GRCm39) missense probably benign
R1192:Ccdc88a UTSW 11 29,454,049 (GRCm39) missense possibly damaging 0.45
R1500:Ccdc88a UTSW 11 29,432,713 (GRCm39) missense probably benign 0.00
R1701:Ccdc88a UTSW 11 29,427,427 (GRCm39) missense possibly damaging 0.59
R1826:Ccdc88a UTSW 11 29,439,637 (GRCm39) missense possibly damaging 0.58
R1902:Ccdc88a UTSW 11 29,411,788 (GRCm39) missense probably benign 0.07
R1903:Ccdc88a UTSW 11 29,411,788 (GRCm39) missense probably benign 0.07
R2021:Ccdc88a UTSW 11 29,453,480 (GRCm39) missense probably damaging 1.00
R2023:Ccdc88a UTSW 11 29,413,546 (GRCm39) nonsense probably null
R2284:Ccdc88a UTSW 11 29,444,099 (GRCm39) splice site probably null
R3236:Ccdc88a UTSW 11 29,397,995 (GRCm39) missense possibly damaging 0.51
R3409:Ccdc88a UTSW 11 29,436,006 (GRCm39) missense probably damaging 1.00
R3410:Ccdc88a UTSW 11 29,436,006 (GRCm39) missense probably damaging 1.00
R3411:Ccdc88a UTSW 11 29,436,006 (GRCm39) missense probably damaging 1.00
R3430:Ccdc88a UTSW 11 29,398,033 (GRCm39) missense probably damaging 0.98
R3620:Ccdc88a UTSW 11 29,380,227 (GRCm39) missense probably benign 0.16
R4204:Ccdc88a UTSW 11 29,413,399 (GRCm39) missense probably damaging 1.00
R4515:Ccdc88a UTSW 11 29,432,651 (GRCm39) missense probably benign 0.01
R4518:Ccdc88a UTSW 11 29,432,651 (GRCm39) missense probably benign 0.01
R4519:Ccdc88a UTSW 11 29,432,651 (GRCm39) missense probably benign 0.01
R4693:Ccdc88a UTSW 11 29,432,241 (GRCm39) missense probably damaging 1.00
R4705:Ccdc88a UTSW 11 29,372,586 (GRCm39) missense probably benign
R4707:Ccdc88a UTSW 11 29,397,956 (GRCm39) missense probably benign
R4732:Ccdc88a UTSW 11 29,435,906 (GRCm39) missense probably benign 0.02
R4733:Ccdc88a UTSW 11 29,435,906 (GRCm39) missense probably benign 0.02
R4734:Ccdc88a UTSW 11 29,432,720 (GRCm39) missense probably benign
R4749:Ccdc88a UTSW 11 29,432,720 (GRCm39) missense probably benign
R4817:Ccdc88a UTSW 11 29,410,907 (GRCm39) missense probably benign 0.15
R4828:Ccdc88a UTSW 11 29,413,210 (GRCm39) missense probably damaging 1.00
R4979:Ccdc88a UTSW 11 29,432,133 (GRCm39) nonsense probably null
R5288:Ccdc88a UTSW 11 29,448,416 (GRCm39) missense possibly damaging 0.77
R5373:Ccdc88a UTSW 11 29,413,409 (GRCm39) missense possibly damaging 0.92
R5374:Ccdc88a UTSW 11 29,413,409 (GRCm39) missense possibly damaging 0.92
R5401:Ccdc88a UTSW 11 29,413,279 (GRCm39) missense probably benign 0.00
R5586:Ccdc88a UTSW 11 29,453,484 (GRCm39) missense probably benign 0.00
R6660:Ccdc88a UTSW 11 29,432,663 (GRCm39) missense probably benign 0.01
R7116:Ccdc88a UTSW 11 29,454,051 (GRCm39) missense probably benign 0.01
R7353:Ccdc88a UTSW 11 29,413,368 (GRCm39) missense probably benign 0.00
R7538:Ccdc88a UTSW 11 29,413,370 (GRCm39) missense probably benign 0.00
R7663:Ccdc88a UTSW 11 29,448,614 (GRCm39) critical splice donor site probably null
R7769:Ccdc88a UTSW 11 29,432,381 (GRCm39) missense probably damaging 1.00
R7798:Ccdc88a UTSW 11 29,427,348 (GRCm39) missense probably benign 0.15
R7810:Ccdc88a UTSW 11 29,435,964 (GRCm39) missense probably damaging 1.00
R7826:Ccdc88a UTSW 11 29,453,563 (GRCm39) missense probably benign 0.02
R7956:Ccdc88a UTSW 11 29,413,892 (GRCm39) missense probably damaging 1.00
R8260:Ccdc88a UTSW 11 29,443,934 (GRCm39) missense probably benign 0.01
R8402:Ccdc88a UTSW 11 29,413,879 (GRCm39) missense probably damaging 1.00
R8409:Ccdc88a UTSW 11 29,453,544 (GRCm39) missense probably benign
R8555:Ccdc88a UTSW 11 29,380,169 (GRCm39) missense probably benign
R8676:Ccdc88a UTSW 11 29,410,860 (GRCm39) missense probably benign 0.05
R8846:Ccdc88a UTSW 11 29,414,185 (GRCm39) missense probably damaging 1.00
R8963:Ccdc88a UTSW 11 29,448,416 (GRCm39) missense possibly damaging 0.77
R8972:Ccdc88a UTSW 11 29,435,888 (GRCm39) missense probably benign 0.07
R9353:Ccdc88a UTSW 11 29,427,433 (GRCm39) missense probably damaging 1.00
R9362:Ccdc88a UTSW 11 29,453,922 (GRCm39) missense probably null 0.55
R9385:Ccdc88a UTSW 11 29,405,422 (GRCm39) missense probably benign 0.24
R9509:Ccdc88a UTSW 11 29,414,143 (GRCm39) missense probably benign 0.27
R9610:Ccdc88a UTSW 11 29,427,316 (GRCm39) missense possibly damaging 0.76
R9611:Ccdc88a UTSW 11 29,427,316 (GRCm39) missense possibly damaging 0.76
R9664:Ccdc88a UTSW 11 29,405,484 (GRCm39) missense probably benign 0.08
R9720:Ccdc88a UTSW 11 29,413,813 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTCCTTGGGCCATGAGGTAAATGAA -3'
(R):5'- GCCTCTCTGAATTCTCTCTGAGCGTC -3'

Sequencing Primer
(F):5'- TTGGGCCATGAGGTAAATGAATTAAC -3'
(R):5'- ccccccaaaaacctttcatatac -3'
Posted On 2013-04-16