Incidental Mutation 'R8972:Ccdc88a'
ID 683187
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 068806-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8972 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 29323658-29460808 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 29435888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 1270 (N1270K)
Ref Sequence ENSEMBL: ENSMUSP00000048978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040182] [ENSMUST00000140194] [ENSMUST00000155854]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000040182
AA Change: N1270K

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000048978
Gene: ENSMUSG00000032740
AA Change: N1270K

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 possibly damaging
Transcript: ENSMUST00000123561
AA Change: N250K

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000119173
Gene: ENSMUSG00000032740
AA Change: N250K

DomainStartEndE-ValueType
coiled coil region 1 212 N/A INTRINSIC
coiled coil region 248 365 N/A INTRINSIC
low complexity region 418 425 N/A INTRINSIC
low complexity region 547 557 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140194
SMART Domains Protein: ENSMUSP00000114942
Gene: ENSMUSG00000032740

DomainStartEndE-ValueType
coiled coil region 3 85 N/A INTRINSIC
low complexity region 137 144 N/A INTRINSIC
low complexity region 294 304 N/A INTRINSIC
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
Meta Mutation Damage Score 0.0642 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (70/71)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,278,138 (GRCm39) S3106F probably damaging Het
Acss1 G T 2: 150,484,809 (GRCm39) R145S probably damaging Het
Acss3 T C 10: 106,920,783 (GRCm39) Y109C probably damaging Het
Adgre4 G T 17: 56,109,189 (GRCm39) G399C probably damaging Het
Alpk1 A G 3: 127,473,232 (GRCm39) S924P probably damaging Het
Anapc4 T A 5: 53,007,884 (GRCm39) D382E possibly damaging Het
Arfgef2 C T 2: 166,709,253 (GRCm39) A1110V possibly damaging Het
Arhgap20 T C 9: 51,760,311 (GRCm39) F721L probably benign Het
Arhgef39 T C 4: 43,497,185 (GRCm39) S269G probably benign Het
Asap2 C T 12: 21,279,249 (GRCm39) T377M probably damaging Het
Baiap3 G T 17: 25,466,010 (GRCm39) A558E probably benign Het
Birc6 A C 17: 75,009,313 (GRCm39) T4862P probably benign Het
Cc2d2a A G 5: 43,867,884 (GRCm39) T843A probably benign Het
Ccdc187 A T 2: 26,171,079 (GRCm39) D466E probably benign Het
Cep250 C T 2: 155,812,042 (GRCm39) A446V unknown Het
Cntn1 T G 15: 92,150,278 (GRCm39) Y371D probably benign Het
Cpsf1 T C 15: 76,481,528 (GRCm39) D1141G probably damaging Het
Crebbp C T 16: 3,925,935 (GRCm39) V1193I probably benign Het
Csf2ra A T 19: 61,213,597 (GRCm39) S371T probably null Het
Csf2rb2 T C 15: 78,172,115 (GRCm39) N432D probably benign Het
Cul9 A T 17: 46,854,177 (GRCm39) L175Q probably damaging Het
Dlc1 T A 8: 37,405,394 (GRCm39) R132* probably null Het
Dock5 C A 14: 68,013,749 (GRCm39) L1324F probably damaging Het
Dop1a T C 9: 86,403,300 (GRCm39) V36A possibly damaging Het
Fap A G 2: 62,378,927 (GRCm39) V158A probably benign Het
G2e3 T A 12: 51,410,277 (GRCm39) S319T possibly damaging Het
Gatd3a T C 10: 78,003,323 (GRCm39) I110V possibly damaging Het
Gphn T C 12: 78,656,013 (GRCm39) probably null Het
Gucy2g A G 19: 55,226,406 (GRCm39) I170T probably benign Het
Hmgxb4 T A 8: 75,748,466 (GRCm39) W438R probably damaging Het
Igkv14-126 G T 6: 67,873,329 (GRCm39) G19V probably damaging Het
Kansl1l C T 1: 66,812,101 (GRCm39) C506Y probably damaging Het
Kif2a T C 13: 107,115,543 (GRCm39) T321A probably damaging Het
Krtap6-5 C T 16: 88,844,607 (GRCm39) R42H unknown Het
Map4 T A 9: 109,864,185 (GRCm39) M470K probably benign Het
Mill1 T C 7: 17,996,982 (GRCm39) V191A probably benign Het
Mki67 C A 7: 135,297,364 (GRCm39) A2557S possibly damaging Het
Mkln1 A T 6: 31,473,681 (GRCm39) H669L probably damaging Het
Mrgprb3 A T 7: 48,293,422 (GRCm39) V43E possibly damaging Het
Mucl2 T A 15: 103,927,860 (GRCm39) probably null Het
Mybbp1a T A 11: 72,337,076 (GRCm39) I604N probably benign Het
Myo18b T C 5: 112,841,164 (GRCm39) T2210A probably benign Het
Nlrp4f T C 13: 65,330,749 (GRCm39) I881M probably benign Het
Obscn C A 11: 58,943,442 (GRCm39) A4236S probably benign Het
Or13a23-ps1 A T 7: 140,119,038 (GRCm39) M203L unknown Het
Or4a67 A C 2: 88,598,630 (GRCm39) F10V possibly damaging Het
Or8d1 A G 9: 38,767,254 (GRCm39) K299E probably damaging Het
Or8d2b G A 9: 38,789,150 (GRCm39) R226H probably benign Het
Phc3 T A 3: 31,015,926 (GRCm39) Q83L possibly damaging Het
Pira2 T C 7: 3,845,070 (GRCm39) Y396C probably damaging Het
Prss3 T A 6: 41,353,872 (GRCm39) I24F probably damaging Het
Psg21 T C 7: 18,381,293 (GRCm39) N417D probably benign Het
Ros1 G T 10: 51,999,333 (GRCm39) R1206S probably benign Het
Smg9 A T 7: 24,120,055 (GRCm39) Q386L probably benign Het
Sncb T A 13: 54,907,772 (GRCm39) probably null Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Sorl1 T A 9: 41,957,848 (GRCm39) I599F probably damaging Het
Sox6 C A 7: 115,076,218 (GRCm39) E807* probably null Het
Ssu2 G A 6: 112,360,898 (GRCm39) A53V probably benign Het
Tas2r123 T C 6: 132,824,333 (GRCm39) C77R probably benign Het
Tcta T C 9: 108,181,333 (GRCm39) R117G unknown Het
Tiam1 G A 16: 89,609,894 (GRCm39) A1038V probably damaging Het
Tram2 A T 1: 21,074,273 (GRCm39) probably benign Het
Tsku C A 7: 98,001,704 (GRCm39) R209L probably damaging Het
Twnk T C 19: 45,000,149 (GRCm39) F622L probably damaging Het
Ube2t C T 1: 134,899,670 (GRCm39) T106I probably damaging Het
Usf1 C T 1: 171,245,352 (GRCm39) R255W probably damaging Het
Usp28 T A 9: 48,949,124 (GRCm39) L906Q probably null Het
Vmn2r31 T A 7: 7,399,654 (GRCm39) Y101F probably benign Het
Vmn2r42 A G 7: 8,187,331 (GRCm39) S814P probably damaging Het
Wnt2b T C 3: 104,858,475 (GRCm39) R265G possibly damaging Het
Zfp62 T G 11: 49,106,892 (GRCm39) S328A possibly damaging Het
Zfp974 T C 7: 27,610,589 (GRCm39) I379V probably benign Het
Zmynd15 T C 11: 70,355,065 (GRCm39) V484A possibly damaging Het
Zzef1 T C 11: 72,791,499 (GRCm39) L2201P probably 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
R0326:Ccdc88a UTSW 11 29,411,021 (GRCm39) missense probably benign 0.01
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
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'- CTTAATACCAGGTTGATTGAGTCAC -3'
(R):5'- TAGGCATGTCTTGACATAAAGGAAG -3'

Sequencing Primer
(F):5'- GGCTTACACGTTCAGAGGTTCAATC -3'
(R):5'- GAAACAATGATGAAGTCTGTTGACAC -3'
Posted On 2021-10-11