Incidental Mutation 'R6386:Cc2d1a'
ID 515607
Institutional Source Beutler Lab
Gene Symbol Cc2d1a
Ensembl Gene ENSMUSG00000036686
Gene Name coiled-coil and C2 domain containing 1A
Synonyms Tape, Freud-1
MMRRC Submission 044535-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.481) question?
Stock # R6386 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 84859457-84874546 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84865166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 469 (M469T)
Ref Sequence ENSEMBL: ENSMUSP00000112556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040383] [ENSMUST00000117424]
AlphaFold Q8K1A6
Predicted Effect probably benign
Transcript: ENSMUST00000040383
AA Change: M515T

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000046449
Gene: ENSMUSG00000036686
AA Change: M515T

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 damaging
Transcript: ENSMUST00000117424
AA Change: M469T

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112556
Gene: ENSMUSG00000036686
AA Change: M469T

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
Meta Mutation Damage Score 0.0794 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.6%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak6 TGACGA TGA 13: 100,792,311 (GRCm39) probably benign Het
Arap2 A T 5: 62,761,865 (GRCm39) N1620K possibly damaging Het
Atf6b T C 17: 34,870,825 (GRCm39) S396P probably damaging Het
Ceacam3 A G 7: 16,892,144 (GRCm39) N296D probably benign Het
Cep57l1 A T 10: 41,619,128 (GRCm39) S80T probably damaging Het
Clip4 C A 17: 72,141,189 (GRCm39) Y514* probably null Het
Cop1 T C 1: 159,116,601 (GRCm39) I125T probably damaging Het
Cstf1 T C 2: 172,219,816 (GRCm39) V309A probably damaging Het
Cyp4a29 T G 4: 115,104,272 (GRCm39) probably null Het
F830045P16Rik G A 2: 129,314,738 (GRCm39) H180Y probably damaging Het
Foxp4 T C 17: 48,189,387 (GRCm39) K237E unknown Het
Fstl5 A T 3: 76,229,373 (GRCm39) H58L probably benign Het
Gje1 A G 10: 14,592,365 (GRCm39) F139S probably damaging Het
Gpatch1 T C 7: 34,991,265 (GRCm39) D593G probably damaging Het
Inpp5d T A 1: 87,627,397 (GRCm39) L566Q probably damaging Het
Mtch2 A G 2: 90,679,739 (GRCm39) T38A probably benign Het
Mvb12b A T 2: 33,717,754 (GRCm39) I129N probably damaging Het
Npffr2 T C 5: 89,730,556 (GRCm39) V162A probably benign Het
Or4d10b A T 19: 12,036,920 (GRCm39) N65K probably damaging Het
Or5p61 A T 7: 107,758,409 (GRCm39) Y224N probably damaging Het
Pkhd1 G A 1: 20,621,244 (GRCm39) R805C probably damaging Het
Ppp4r4 T C 12: 103,559,364 (GRCm39) L406P probably damaging Het
Prl3d2 A G 13: 27,311,286 (GRCm39) D186G probably damaging Het
Rfc5 T C 5: 117,523,463 (GRCm39) T112A probably benign Het
Rnf148 A G 6: 23,654,483 (GRCm39) L171P probably damaging Het
Rps24 G A 14: 24,542,116 (GRCm39) G71S possibly damaging Het
Slco2a1 G A 9: 102,954,187 (GRCm39) V453I probably benign Het
Spidr T C 16: 15,786,424 (GRCm39) K440E probably benign Het
Syndig1 C A 2: 149,741,496 (GRCm39) N27K probably damaging Het
Tmem62 C T 2: 120,829,595 (GRCm39) T316I probably benign Het
Tpgs2 A T 18: 25,272,081 (GRCm39) I258N possibly damaging Het
Vmn2r78 A T 7: 86,571,545 (GRCm39) R452* probably null Het
Wasf3 A T 5: 146,390,227 (GRCm39) I124F possibly damaging Het
Wbp11 T C 6: 136,797,523 (GRCm39) T299A probably benign Het
Wdr25 T C 12: 108,990,991 (GRCm39) S41P probably damaging Het
Zfp874b T C 13: 67,622,962 (GRCm39) D116G possibly 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
IGL02216:Cc2d1a APN 8 84,865,942 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- AACGGCCTACTTGTCGAGAG -3'
(R):5'- TACGCAGCAGAATACCCCTG -3'

Sequencing Primer
(F):5'- GGGCAGCTTAGCTTAAATGATAC -3'
(R):5'- ACCCAGCTGAAGTCCTCG -3'
Posted On 2018-05-04