Incidental Mutation 'R1625:Cc2d1a'
ID 174974
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 039662-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.481) question?
Stock # R1625 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 84859457-84874546 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84866001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 418 (L418Q)
Ref Sequence ENSEMBL: ENSMUSP00000046449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040383] [ENSMUST00000117424]
AlphaFold Q8K1A6
Predicted Effect probably damaging
Transcript: ENSMUST00000040383
AA Change: L418Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000046449
Gene: ENSMUSG00000036686
AA Change: L418Q

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: L373Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112556
Gene: ENSMUSG00000036686
AA Change: L373Q

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
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.3%
  • 20x: 89.1%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,857,947 (GRCm39) M605L probably benign Het
Abcc5 A T 16: 20,184,567 (GRCm39) S1031T probably damaging Het
Acot7 T A 4: 152,270,748 (GRCm39) C31S probably benign Het
Acss3 A T 10: 106,773,263 (GRCm39) probably null Het
Adipor1 T C 1: 134,351,802 (GRCm39) F83S possibly damaging Het
Agrn G A 4: 156,257,317 (GRCm39) S1171L probably damaging Het
Aoc1l1 T A 6: 48,952,105 (GRCm39) L10Q probably damaging Het
Arhgap5 T A 12: 52,564,159 (GRCm39) C377S probably benign Het
Arid4b T A 13: 14,361,699 (GRCm39) V721D probably damaging Het
Aspm G A 1: 139,408,777 (GRCm39) A2555T probably benign Het
Atp6v0a1 T A 11: 100,946,380 (GRCm39) L791Q probably damaging Het
Car11 A G 7: 45,350,731 (GRCm39) K76E probably benign Het
Casp8ap2 T A 4: 32,648,068 (GRCm39) M1925K probably benign Het
Ccl9 G A 11: 83,466,736 (GRCm39) R64W probably damaging Het
Cfap20dc A G 14: 8,431,668 (GRCm38) Y655H probably damaging Het
Cfap43 T A 19: 47,739,527 (GRCm39) K1325N probably damaging Het
Dars2 G A 1: 160,881,614 (GRCm39) P305L possibly damaging Het
Ddx11 C T 17: 66,457,692 (GRCm39) T859I probably benign Het
Dock7 C T 4: 98,850,433 (GRCm39) probably null Het
Efcab6 A G 15: 83,831,839 (GRCm39) V570A probably benign Het
Fermt1 T A 2: 132,764,751 (GRCm39) I369F probably damaging Het
Fras1 A G 5: 96,861,849 (GRCm39) Y2161C probably damaging Het
Fras1 C A 5: 96,857,837 (GRCm39) P2044T possibly damaging Het
Gucy1a1 T C 3: 82,009,362 (GRCm39) I549V probably benign Het
Hspg2 G A 4: 137,246,282 (GRCm39) S1020N probably benign Het
Kif21a A G 15: 90,826,378 (GRCm39) S1360P probably damaging Het
Lrp3 T C 7: 34,903,350 (GRCm39) Y332C probably damaging Het
Ltc4s C A 11: 50,128,215 (GRCm39) A32S possibly damaging Het
Mgrn1 T C 16: 4,728,627 (GRCm39) L84P probably damaging Het
Muc2 C G 7: 141,283,405 (GRCm39) C672W probably damaging Het
Mvp A T 7: 126,600,845 (GRCm39) V52E probably damaging Het
Ndrg2 T C 14: 52,144,420 (GRCm39) T269A probably damaging Het
Notch2 T A 3: 98,018,891 (GRCm39) D684E probably damaging Het
Nup205 A G 6: 35,168,878 (GRCm39) D316G probably benign Het
Or12e7 T A 2: 87,288,016 (GRCm39) I169K probably damaging Het
Or2v2 T C 11: 49,004,071 (GRCm39) M161V probably benign Het
Or7d11 A G 9: 19,966,678 (GRCm39) L27P probably damaging Het
Pcsk1 A T 13: 75,274,971 (GRCm39) D520V probably benign Het
Pik3cg A T 12: 32,244,741 (GRCm39) D904E probably damaging Het
Pitpnm2 T A 5: 124,271,496 (GRCm39) D359V probably benign Het
Ppih T C 4: 119,175,779 (GRCm39) I69V probably damaging Het
Rab11fip3 T C 17: 26,287,865 (GRCm39) E96G possibly damaging Het
Retreg3 C A 11: 100,992,875 (GRCm39) M1I probably null Het
Rfpl4 C T 7: 5,118,409 (GRCm39) V54I possibly damaging Het
Rif1 T C 2: 51,993,652 (GRCm39) I855T probably benign Het
Rrm1 T A 7: 102,117,554 (GRCm39) I748N probably damaging Het
Sap130 T A 18: 31,807,517 (GRCm39) N441K probably damaging Het
Sf3b1 T A 1: 55,058,536 (GRCm39) I18F probably damaging Het
Skor2 A G 18: 76,946,499 (GRCm39) N74D unknown Het
Slc17a6 C A 7: 51,311,208 (GRCm39) F307L probably benign Het
Slc25a13 G A 6: 6,096,675 (GRCm39) L410F probably damaging Het
Slc47a1 A T 11: 61,262,625 (GRCm39) V38E probably damaging Het
Slc8a1 T A 17: 81,956,670 (GRCm39) T123S probably damaging Het
Slc9a5 C A 8: 106,094,755 (GRCm39) T782K possibly damaging Het
Spmip7 C A 11: 11,438,644 (GRCm39) probably benign Het
Sppl2c C A 11: 104,077,995 (GRCm39) T265K probably damaging Het
Srfbp1 A G 18: 52,621,788 (GRCm39) K283R probably benign Het
Ssr1 C T 13: 38,173,479 (GRCm39) probably null Het
Stard3nl T C 13: 19,556,754 (GRCm39) probably null Het
Timeless G T 10: 128,076,493 (GRCm39) S134I probably damaging Het
Tll1 A G 8: 64,494,476 (GRCm39) F760L probably damaging Het
Tspear A G 10: 77,706,333 (GRCm39) I368V probably benign Het
Txnrd2 G T 16: 18,257,116 (GRCm39) W144L probably damaging Het
Unc5d T C 8: 29,173,234 (GRCm39) E668G probably damaging Het
Urb1 C T 16: 90,570,936 (GRCm39) probably null Het
Uts2r A G 11: 121,052,033 (GRCm39) Y299C probably damaging Het
Vmn1r66 G T 7: 10,008,316 (GRCm39) T239K probably benign Het
Vps39 C T 2: 120,154,106 (GRCm39) V630M probably damaging Het
Wrn T C 8: 33,819,158 (GRCm39) T22A probably benign Het
Zfp7 T A 15: 76,765,374 (GRCm39) D22E 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
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
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
Predicted Primers PCR Primer
(F):5'- CTGTGCTGCACCCATTCTCTAGATG -3'
(R):5'- AGTCTGTCAGGATCTGTGCGAGTC -3'

Sequencing Primer
(F):5'- gccagagccctacagcc -3'
(R):5'- gaggctgaggcagggac -3'
Posted On 2014-04-24