Incidental Mutation 'IGL02216:Cc2d1a'
ID 284892
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cc2d1a
Ensembl Gene ENSMUSG00000036686
Gene Name coiled-coil and C2 domain containing 1A
Synonyms Tape, Freud-1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.481) question?
Stock # IGL02216
Quality Score
Status
Chromosome 8
Chromosomal Location 84859457-84874546 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 84865942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 393 (E393*)
Ref Sequence ENSEMBL: ENSMUSP00000112556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040383] [ENSMUST00000117424]
AlphaFold Q8K1A6
Predicted Effect probably null
Transcript: ENSMUST00000040383
AA Change: E438*
SMART Domains Protein: ENSMUSP00000046449
Gene: ENSMUSG00000036686
AA Change: E438*

DomainStartEndE-ValueType
low complexity region 41 51 N/A INTRINSIC
low complexity region 83 110 N/A INTRINSIC
DM14 137 194 1.02e-14 SMART
low complexity region 195 206 N/A INTRINSIC
low complexity region 229 238 N/A INTRINSIC
DM14 250 308 8.7e-23 SMART
DM14 342 400 7.44e-31 SMART
low complexity region 457 478 N/A INTRINSIC
DM14 487 545 4.62e-27 SMART
C2 649 763 5.08e-8 SMART
Predicted Effect probably null
Transcript: ENSMUST00000117424
AA Change: E393*
SMART Domains Protein: ENSMUSP00000112556
Gene: ENSMUSG00000036686
AA Change: E393*

DomainStartEndE-ValueType
low complexity region 41 51 N/A INTRINSIC
low complexity region 83 110 N/A INTRINSIC
low complexity region 150 161 N/A INTRINSIC
low complexity region 184 193 N/A INTRINSIC
DM14 205 263 8.7e-23 SMART
DM14 297 355 7.44e-31 SMART
low complexity region 411 432 N/A INTRINSIC
DM14 441 499 4.62e-27 SMART
C2 603 717 5.08e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154029
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in nonsyndromic mental retardation-3.[provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial neonatal lethality, reduced body weight, hunched posture, respiratory distress, increased sensitivity of neurons to hydrogen peroxide, reduced dendrite length, abnormal brain vasculature and reduced synaptic number and density. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544D05Rik T C 11: 70,507,005 (GRCm39) F48L possibly damaging Het
Adamts12 A G 15: 11,241,571 (GRCm39) N381S possibly damaging Het
Akp3 A T 1: 87,055,372 (GRCm39) Q473L probably damaging Het
Albfm1 T C 5: 90,727,438 (GRCm39) probably benign Het
Ap5s1 T A 2: 131,054,887 (GRCm39) probably benign Het
Atp10b T A 11: 43,150,616 (GRCm39) L1438Q probably damaging Het
B3galt4 G A 17: 34,169,539 (GRCm39) P233L probably damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cd209a G T 8: 3,795,576 (GRCm39) T165N probably damaging Het
Chid1 T C 7: 141,076,506 (GRCm39) probably benign Het
Cln3 A T 7: 126,174,514 (GRCm39) probably null Het
Cped1 A T 6: 22,059,944 (GRCm39) R203S probably damaging Het
Dele1 A T 18: 38,385,913 (GRCm39) I102F probably damaging Het
Dnttip2 G T 3: 122,069,910 (GRCm39) W375L probably benign Het
Dync1h1 T C 12: 110,629,436 (GRCm39) F4280S probably damaging Het
Ephb4 A G 5: 137,370,332 (GRCm39) D844G possibly damaging Het
Fhl2 T A 1: 43,170,879 (GRCm39) E145V probably null Het
Gne T C 4: 44,044,761 (GRCm39) K458E probably benign Het
Grid2 G T 6: 64,322,650 (GRCm39) R550L probably damaging Het
Klhl1 T A 14: 96,360,658 (GRCm39) T731S probably benign Het
Kng1 T A 16: 22,877,283 (GRCm39) D30E probably damaging Het
Kyat1 A G 2: 30,077,264 (GRCm39) V158A probably benign Het
Mcm8 G T 2: 132,681,449 (GRCm39) V642F probably damaging Het
Mdn1 C T 4: 32,739,092 (GRCm39) H3638Y probably benign Het
Neb T G 2: 52,116,502 (GRCm39) T4158P probably benign Het
Neo1 T C 9: 58,824,336 (GRCm39) I697M probably damaging Het
Nfkb1 A T 3: 135,300,724 (GRCm39) V614D probably damaging Het
Or7e169 G A 9: 19,757,861 (GRCm39) S18L probably damaging Het
Otog T C 7: 45,950,892 (GRCm39) S2555P probably damaging Het
Pkd1l1 T A 11: 8,784,897 (GRCm39) R1962S probably damaging Het
Plxnb1 A G 9: 108,929,918 (GRCm39) Y258C probably damaging Het
Pramel12 T A 4: 143,144,298 (GRCm39) probably null Het
Prl3a1 A G 13: 27,454,127 (GRCm39) D35G probably benign Het
Rag1 A T 2: 101,473,726 (GRCm39) V472D possibly damaging Het
Rbpj-ps3 G A 6: 46,506,641 (GRCm39) probably benign Het
Rnf112 C T 11: 61,340,804 (GRCm39) V472M probably damaging Het
Rps18 A G 17: 34,171,015 (GRCm39) probably benign Het
Rptn T C 3: 93,303,080 (GRCm39) S138P possibly damaging Het
Sbpl A C 17: 24,172,690 (GRCm39) N76K probably benign Het
Sh3bp1 A T 15: 78,789,364 (GRCm39) M241L probably benign Het
Slc22a17 T C 14: 55,145,433 (GRCm39) *198W probably null Het
Smc3 C T 19: 53,610,275 (GRCm39) R221C probably damaging Het
Snai1 A G 2: 167,380,768 (GRCm39) E87G probably benign Het
Snx22 C A 9: 65,976,470 (GRCm39) A49S probably benign Het
Tas2r143 A T 6: 42,377,268 (GRCm39) R33* probably null Het
Try4 A G 6: 41,281,965 (GRCm39) I184V probably benign Het
Ttn T A 2: 76,584,896 (GRCm39) K20355* probably null Het
Ttn A G 2: 76,622,069 (GRCm39) V15491A probably benign Het
Tut7 T C 13: 59,948,237 (GRCm39) T293A probably benign Het
Vmn1r170 A G 7: 23,305,915 (GRCm39) T106A probably damaging Het
Vmn2r59 A T 7: 41,661,817 (GRCm39) V666E probably damaging Het
Vsx1 T C 2: 150,526,495 (GRCm39) N221S possibly damaging Het
Zfp846 A G 9: 20,499,905 (GRCm39) E45G probably damaging Het
Other mutations in Cc2d1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01078:Cc2d1a APN 8 84,866,894 (GRCm39) missense possibly damaging 0.87
IGL01126:Cc2d1a APN 8 84,870,033 (GRCm39) missense probably benign 0.11
IGL01129:Cc2d1a APN 8 84,870,033 (GRCm39) missense probably benign 0.11
IGL01133:Cc2d1a APN 8 84,870,033 (GRCm39) missense probably benign 0.11
IGL01135:Cc2d1a APN 8 84,870,033 (GRCm39) missense probably benign 0.11
IGL01953:Cc2d1a APN 8 84,870,607 (GRCm39) missense probably benign 0.00
IGL03131:Cc2d1a APN 8 84,870,056 (GRCm39) missense probably damaging 1.00
IGL03268:Cc2d1a APN 8 84,860,154 (GRCm39) missense probably damaging 1.00
IGL03401:Cc2d1a APN 8 84,861,258 (GRCm39) missense probably benign 0.00
Rye UTSW 8 84,861,599 (GRCm39) missense probably damaging 1.00
Taragon UTSW 8 84,865,166 (GRCm39) missense probably damaging 0.96
R0313:Cc2d1a UTSW 8 84,863,598 (GRCm39) missense probably benign 0.38
R0811:Cc2d1a UTSW 8 84,860,465 (GRCm39) missense probably benign 0.23
R0812:Cc2d1a UTSW 8 84,860,465 (GRCm39) missense probably benign 0.23
R0893:Cc2d1a UTSW 8 84,867,468 (GRCm39) splice site probably benign
R1440:Cc2d1a UTSW 8 84,860,604 (GRCm39) critical splice donor site probably null
R1625:Cc2d1a UTSW 8 84,866,001 (GRCm39) missense probably damaging 1.00
R2183:Cc2d1a UTSW 8 84,867,028 (GRCm39) missense probably damaging 1.00
R5155:Cc2d1a UTSW 8 84,867,755 (GRCm39) missense probably benign 0.00
R5959:Cc2d1a UTSW 8 84,860,132 (GRCm39) nonsense probably null
R6046:Cc2d1a UTSW 8 84,863,571 (GRCm39) missense possibly damaging 0.81
R6386:Cc2d1a UTSW 8 84,865,166 (GRCm39) missense probably damaging 0.96
R6956:Cc2d1a UTSW 8 84,862,528 (GRCm39) missense probably damaging 1.00
R6992:Cc2d1a UTSW 8 84,861,542 (GRCm39) missense probably damaging 1.00
R7156:Cc2d1a UTSW 8 84,862,389 (GRCm39) missense possibly damaging 0.69
R7396:Cc2d1a UTSW 8 84,870,374 (GRCm39) splice site probably null
R7456:Cc2d1a UTSW 8 84,866,868 (GRCm39) critical splice donor site probably null
R7787:Cc2d1a UTSW 8 84,860,144 (GRCm39) missense possibly damaging 0.94
R8507:Cc2d1a UTSW 8 84,861,605 (GRCm39) missense probably benign 0.37
R8808:Cc2d1a UTSW 8 84,861,599 (GRCm39) missense probably damaging 1.00
R9524:Cc2d1a UTSW 8 84,870,744 (GRCm39) missense probably benign 0.06
R9563:Cc2d1a UTSW 8 84,863,758 (GRCm39) missense probably benign 0.14
RF007:Cc2d1a UTSW 8 84,861,298 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16