Incidental Mutation 'R9621:Calcoco2'
ID 724812
Institutional Source Beutler Lab
Gene Symbol Calcoco2
Ensembl Gene ENSMUSG00000006056
Gene Name calcium binding and coiled-coil domain 2
Synonyms Ndp52l1, Ndp52, 2410154J16Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9621 (G1)
Quality Score 128.461
Status Not validated
Chromosome 11
Chromosomal Location 95990152-96002790 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC to TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC at 95990862 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068686] [ENSMUST00000097162]
AlphaFold A2A6M5
Predicted Effect probably benign
Transcript: ENSMUST00000068686
SMART Domains Protein: ENSMUSP00000087407
Gene: ENSMUSG00000006056

DomainStartEndE-ValueType
Pfam:CALCOCO1 16 258 4.5e-34 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000097162
SMART Domains Protein: ENSMUSP00000103309
Gene: ENSMUSG00000006056

DomainStartEndE-ValueType
Pfam:CALCOCO1 14 281 2.3e-27 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,092,918 (GRCm39) T289A probably benign Het
Adnp A T 2: 168,024,663 (GRCm39) S877R probably benign Het
Akap13 T A 7: 75,386,090 (GRCm39) H555Q probably benign Het
Alg6 T A 4: 99,615,131 (GRCm39) Y38* probably null Het
Amtn C A 5: 88,528,205 (GRCm39) Q93K probably benign Het
Ap2b1 T C 11: 83,293,424 (GRCm39) V937A probably damaging Het
Arih1 ATCGTCCGGCTCGTCCTCGTCGTCGTCC ATCGTCC 9: 59,393,520 (GRCm39) probably benign Het
Atosa A G 9: 74,917,512 (GRCm39) N711D possibly damaging Het
Bhmt A G 13: 93,758,079 (GRCm39) S211P possibly damaging Het
Bltp3a T A 17: 28,105,753 (GRCm39) S760T probably benign Het
Bmp1 T C 14: 70,715,306 (GRCm39) Y943C probably benign Het
Cbfb A C 8: 105,905,243 (GRCm39) T62P probably damaging Het
Ccdc154 T C 17: 25,386,355 (GRCm39) F249L probably damaging Het
Cdh26 T A 2: 178,111,983 (GRCm39) F514L probably damaging Het
Cdhr2 A G 13: 54,866,350 (GRCm39) E352G Het
Cep295nl G A 11: 118,224,766 (GRCm39) P26L possibly damaging Het
Cfdp1 A G 8: 112,571,807 (GRCm39) V34A probably damaging Het
Cntnap2 A T 6: 46,965,726 (GRCm39) I846F probably damaging Het
Cntrl A G 2: 35,050,278 (GRCm39) K1464E probably damaging Het
Crybg3 T C 16: 59,326,613 (GRCm39) D1039G possibly damaging Het
Csmd3 A T 15: 47,713,116 (GRCm39) S778R Het
Daam2 C T 17: 49,780,332 (GRCm39) C729Y probably damaging Het
Ddx18 T C 1: 121,489,132 (GRCm39) H305R probably damaging Het
Dio1 C T 4: 107,149,558 (GRCm39) C248Y probably benign Het
Dnah1 C A 14: 31,016,772 (GRCm39) A1582S probably damaging Het
Eef1a1 A T 9: 78,386,632 (GRCm39) D319E probably benign Het
Fam171b G A 2: 83,643,109 (GRCm39) R6H probably damaging Het
Flnb G A 14: 7,926,421 (GRCm38) G1822R probably damaging Het
Gabrb1 G A 5: 72,279,363 (GRCm39) V303I possibly damaging Het
Gli3 T G 13: 15,901,253 (GRCm39) S1547A probably benign Het
Gm4884 A T 7: 40,693,111 (GRCm39) N360I possibly damaging Het
Ift70b T C 2: 75,768,144 (GRCm39) Y203C probably damaging Het
Il1rl2 CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT 1: 40,366,470 (GRCm39) probably benign Het
Ino80 C G 2: 119,280,496 (GRCm39) K289N probably damaging Het
Itpr1 G A 6: 108,393,870 (GRCm39) E1638K probably damaging Het
Jakmip1 A T 5: 37,274,812 (GRCm39) I45F unknown Het
Kif1a G A 1: 92,983,445 (GRCm39) P684L probably benign Het
Kpnb1 A T 11: 97,058,460 (GRCm39) S610T probably benign Het
Man1a2 A G 3: 100,591,961 (GRCm39) V73A probably benign Het
Mbtps1 A G 8: 120,235,621 (GRCm39) V1019A possibly damaging Het
Muc21 T A 17: 35,932,720 (GRCm39) T489S unknown Het
Nup210 G C 6: 90,994,375 (GRCm39) N1774K probably benign Het
Or10p21 G T 10: 128,847,759 (GRCm39) V202F probably benign Het
Pik3c2b T C 1: 132,999,345 (GRCm39) S398P probably damaging Het
Pmpca A G 2: 26,279,988 (GRCm39) T37A probably benign Het
Ppfia1 A G 7: 144,052,516 (GRCm39) S840P probably damaging Het
Prkcq A T 2: 11,261,014 (GRCm39) K355N probably benign Het
Prorp C A 12: 55,429,042 (GRCm39) H538N probably benign Het
Ptprg A G 14: 12,237,809 (GRCm38) K1422R probably benign Het
Ptprq T C 10: 107,378,523 (GRCm39) E2006G probably damaging Het
Qsox1 TG T 1: 155,671,135 (GRCm39) probably null Het
Rcor2 A T 19: 7,251,591 (GRCm39) T412S probably benign Het
Rnf224 A T 2: 25,126,200 (GRCm39) M51K probably benign Het
Robo4 A G 9: 37,317,509 (GRCm39) D521G probably damaging Het
Sf3b4 T A 3: 96,084,115 (GRCm39) S360T unknown Het
Sgo2b T C 8: 64,380,651 (GRCm39) D727G probably damaging Het
Smpd2 C A 10: 41,364,283 (GRCm39) V172L probably benign Het
Spring1 C T 5: 118,393,880 (GRCm39) T86I possibly damaging Het
Syne1 C T 10: 5,273,887 (GRCm39) A1966T probably benign Het
Syt13 G A 2: 92,745,575 (GRCm39) G15D possibly damaging Het
Taf3 A T 2: 9,923,070 (GRCm39) L18Q unknown Het
Tcam1 T A 11: 106,176,259 (GRCm39) N328K probably damaging Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tet2 A T 3: 133,193,767 (GRCm39) Y222* probably null Het
Timm29 A T 9: 21,504,218 (GRCm39) probably benign Het
Tmc6 T C 11: 117,669,995 (GRCm39) D17G probably benign Het
Tmem30a T A 9: 79,687,926 (GRCm39) D81V probably benign Het
Tnnt1 T C 7: 4,511,501 (GRCm39) I195V probably benign Het
Ttll5 T A 12: 85,938,896 (GRCm39) V398E possibly damaging Het
Ttn T C 2: 76,748,441 (GRCm39) T4203A possibly damaging Het
Ubc A G 5: 125,464,511 (GRCm39) I272T probably damaging Het
Unc45a A G 7: 79,983,785 (GRCm39) L337P probably damaging Het
Vmn1r229 T C 17: 21,035,315 (GRCm39) F187L probably benign Het
Wrn A T 8: 33,814,301 (GRCm39) M381K probably benign Het
Zdbf2 A G 1: 63,342,635 (GRCm39) N338S possibly damaging Het
Zfp541 A G 7: 15,805,892 (GRCm39) E9G possibly damaging Het
Zrsr2-ps1 G A 11: 22,923,418 (GRCm39) R64Q possibly damaging Het
Zswim8 T A 14: 20,772,231 (GRCm39) S1614T probably benign Het
Other mutations in Calcoco2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03286:Calcoco2 APN 11 95,994,098 (GRCm39) missense possibly damaging 0.95
R0671:Calcoco2 UTSW 11 95,998,354 (GRCm39) missense probably damaging 1.00
R1668:Calcoco2 UTSW 11 95,993,563 (GRCm39) missense probably benign 0.33
R4678:Calcoco2 UTSW 11 95,994,374 (GRCm39) missense probably damaging 1.00
R4812:Calcoco2 UTSW 11 95,998,276 (GRCm39) missense probably damaging 1.00
R5481:Calcoco2 UTSW 11 95,998,369 (GRCm39) missense probably damaging 1.00
R5512:Calcoco2 UTSW 11 95,994,162 (GRCm39) missense probably damaging 1.00
R6691:Calcoco2 UTSW 11 95,990,934 (GRCm39) missense unknown
R6997:Calcoco2 UTSW 11 95,990,808 (GRCm39) small deletion probably benign
R7289:Calcoco2 UTSW 11 95,990,823 (GRCm39) missense unknown
R7715:Calcoco2 UTSW 11 95,990,862 (GRCm39) frame shift probably null
R7851:Calcoco2 UTSW 11 95,990,808 (GRCm39) small deletion probably benign
R7872:Calcoco2 UTSW 11 95,990,808 (GRCm39) small deletion probably benign
R7939:Calcoco2 UTSW 11 95,990,808 (GRCm39) small deletion probably benign
R8027:Calcoco2 UTSW 11 95,991,241 (GRCm39) splice site probably benign
R8079:Calcoco2 UTSW 11 95,998,363 (GRCm39) missense probably damaging 1.00
R8529:Calcoco2 UTSW 11 95,990,808 (GRCm39) small deletion probably benign
R8700:Calcoco2 UTSW 11 95,994,330 (GRCm39) missense probably benign 0.09
R8865:Calcoco2 UTSW 11 95,990,808 (GRCm39) small deletion probably benign
R8870:Calcoco2 UTSW 11 95,990,808 (GRCm39) small deletion probably benign
R8909:Calcoco2 UTSW 11 95,990,808 (GRCm39) small deletion probably benign
R8933:Calcoco2 UTSW 11 95,998,252 (GRCm39) splice site probably benign
R9073:Calcoco2 UTSW 11 95,990,808 (GRCm39) small deletion probably benign
R9359:Calcoco2 UTSW 11 95,990,862 (GRCm39) frame shift probably null
R9538:Calcoco2 UTSW 11 95,990,808 (GRCm39) small deletion probably benign
R9614:Calcoco2 UTSW 11 95,991,185 (GRCm39) missense probably benign 0.01
R9664:Calcoco2 UTSW 11 95,991,104 (GRCm39) missense unknown
X0027:Calcoco2 UTSW 11 95,998,385 (GRCm39) missense probably benign 0.03
Z1176:Calcoco2 UTSW 11 95,994,346 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTCTGGGATGTGCAATCATAC -3'
(R):5'- TGGCACTGGAAGCAACACAG -3'

Sequencing Primer
(F):5'- GGATGTGCAATCATACCAAACCAG -3'
(R):5'- TGGAAGAGAAGGCCTCCTG -3'
Posted On 2022-09-12