Incidental Mutation 'R5420:Ccdc47'
ID 428003
Institutional Source Beutler Lab
Gene Symbol Ccdc47
Ensembl Gene ENSMUSG00000078622
Gene Name coiled-coil domain containing 47
Synonyms asp4, calumin, 2610204L23Rik
MMRRC Submission 042988-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5420 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 106090086-106107349 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 106101176 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 162 (R162Q)
Ref Sequence ENSEMBL: ENSMUSP00000002043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002043]
AlphaFold Q9D024
Predicted Effect probably benign
Transcript: ENSMUST00000002043
AA Change: R162Q

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000002043
Gene: ENSMUSG00000078622
AA Change: R162Q

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 23 38 N/A INTRINSIC
Pfam:DUF1682 134 467 2.1e-98 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125383
SMART Domains Protein: ENSMUSP00000122736
Gene: ENSMUSG00000078622

DomainStartEndE-ValueType
Pfam:DUF1682 1 212 1.3e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153982
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 97% (66/68)
MGI Phenotype PHENOTYPE: More than half of homozygous null mice die at early embryonic stages while the rest die shortly after birth. Mouse embryonic fibroblasts display insufficient Ca2+ contents in intracellular stores, impaired store-operated Ca2+ entry, and enhanced endoplasmic reticulum stress-induced apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 TGCGCAGC T 19: 4,915,372 (GRCm39) probably null Het
Adamts1 A T 16: 85,596,497 (GRCm39) C117* probably null Het
Adgrg6 A T 10: 14,302,730 (GRCm39) Y894* probably null Het
Alas1 G T 9: 106,111,358 (GRCm39) L603I probably benign Het
Arhgap21 G T 2: 20,885,897 (GRCm39) R427S probably damaging Het
Arhgef25 A T 10: 127,023,143 (GRCm39) V88D probably benign Het
Bdp1 T C 13: 100,202,551 (GRCm39) Q691R possibly damaging Het
Bpifa6 T A 2: 153,831,250 (GRCm39) I272N probably damaging Het
Cacybp T C 1: 160,035,914 (GRCm39) probably benign Het
Capn3 T C 2: 120,325,777 (GRCm39) probably benign Het
Cideb A C 14: 55,995,748 (GRCm39) M1R probably null Het
Clec16a G A 16: 10,549,543 (GRCm39) C872Y probably damaging Het
Crebbp C T 16: 3,925,322 (GRCm39) R760H probably damaging Het
Cyp2c23 A C 19: 44,004,103 (GRCm39) probably null Het
Cyp3a13 T G 5: 137,897,243 (GRCm39) D357A probably damaging Het
Dip2b C T 15: 100,103,054 (GRCm39) probably benign Het
Ecm2 A T 13: 49,681,210 (GRCm39) R448S possibly damaging Het
Edil3 T C 13: 89,279,891 (GRCm39) Y190H probably damaging Het
Eps8l1 T G 7: 4,473,160 (GRCm39) probably null Het
Eps8l3 A T 3: 107,791,301 (GRCm39) K280* probably null Het
Fam184a A G 10: 53,509,753 (GRCm39) F1137L probably damaging Het
Fmn2 A T 1: 174,526,344 (GRCm39) R1388* probably null Het
Glt8d2 T C 10: 82,488,516 (GRCm39) K318R probably benign Het
Herc2 A T 7: 55,853,578 (GRCm39) K3690I probably damaging Het
Ifi206 T A 1: 173,308,599 (GRCm39) I466F possibly damaging Het
Jade2 T C 11: 51,709,434 (GRCm39) K525R probably benign Het
Kmt2a A T 9: 44,759,633 (GRCm39) F772I probably damaging Het
Lipi A G 16: 75,352,757 (GRCm39) V360A possibly damaging Het
Mbl1 C T 14: 40,879,153 (GRCm39) S108L possibly damaging Het
Mmp1b T C 9: 7,384,897 (GRCm39) I251V possibly damaging Het
Mrpl23 A G 7: 142,089,874 (GRCm39) T25A probably damaging Het
Mto1 T A 9: 78,360,109 (GRCm39) M199K probably benign Het
Nes A T 3: 87,884,309 (GRCm39) N812I probably damaging Het
Nfkbie T A 17: 45,871,132 (GRCm39) D261E probably benign Het
Or7e173 T C 9: 19,938,355 (GRCm39) Y293C probably damaging Het
Pakap G A 4: 57,856,062 (GRCm39) V505I probably benign Het
Pakap T A 4: 57,856,434 (GRCm39) Y588N probably damaging Het
Papola A G 12: 105,772,754 (GRCm39) I114V possibly damaging Het
Pappa T G 4: 65,254,017 (GRCm39) probably null Het
Pcdh7 T A 5: 57,877,529 (GRCm39) D361E probably damaging Het
Pick1 A G 15: 79,133,040 (GRCm39) T367A probably benign Het
Plbd2 A G 5: 120,632,547 (GRCm39) Y152H probably damaging Het
Ppfia2 A T 10: 106,671,562 (GRCm39) E424D possibly damaging Het
Rab7b C T 1: 131,626,164 (GRCm39) T64I probably damaging Het
Rarb T A 14: 16,434,249 (GRCm38) I310F possibly damaging Het
Rdh16f2 C T 10: 127,712,943 (GRCm39) P314S possibly damaging Het
Rpain A T 11: 70,868,516 (GRCm39) probably null Het
Rufy3 T C 5: 88,788,518 (GRCm39) *488Q probably null Het
Sash1 G A 10: 8,621,950 (GRCm39) T398I probably damaging Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Scrn1 T A 6: 54,489,048 (GRCm39) I358F probably benign Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Thbs1 G T 2: 117,943,636 (GRCm39) D85Y possibly damaging Het
Thoc2l T A 5: 104,666,225 (GRCm39) I249N probably damaging Het
Trp53 T C 11: 69,479,146 (GRCm39) probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vmn1r223 A G 13: 23,433,675 (GRCm39) R90G probably benign Het
Zfp521 A T 18: 13,977,144 (GRCm39) Y1090N probably damaging Het
Zfp677 T C 17: 21,618,175 (GRCm39) C411R probably damaging Het
Other mutations in Ccdc47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Ccdc47 APN 11 106,094,358 (GRCm39) splice site probably null
IGL01890:Ccdc47 APN 11 106,096,277 (GRCm39) missense probably damaging 1.00
IGL02026:Ccdc47 APN 11 106,095,853 (GRCm39) missense probably damaging 0.96
IGL03343:Ccdc47 APN 11 106,095,788 (GRCm39) missense probably damaging 0.99
PIT4677001:Ccdc47 UTSW 11 106,099,034 (GRCm39) missense probably damaging 1.00
R1508:Ccdc47 UTSW 11 106,093,242 (GRCm39) missense probably damaging 1.00
R2239:Ccdc47 UTSW 11 106,092,960 (GRCm39) missense possibly damaging 0.93
R3103:Ccdc47 UTSW 11 106,093,667 (GRCm39) missense probably benign 0.00
R3935:Ccdc47 UTSW 11 106,092,823 (GRCm39) unclassified probably benign
R4783:Ccdc47 UTSW 11 106,094,430 (GRCm39) missense probably benign 0.03
R5150:Ccdc47 UTSW 11 106,096,265 (GRCm39) missense possibly damaging 0.92
R5331:Ccdc47 UTSW 11 106,101,176 (GRCm39) missense probably benign 0.17
R5362:Ccdc47 UTSW 11 106,099,039 (GRCm39) splice site probably null
R5417:Ccdc47 UTSW 11 106,101,176 (GRCm39) missense probably benign 0.17
R5473:Ccdc47 UTSW 11 106,095,855 (GRCm39) missense probably damaging 0.98
R6297:Ccdc47 UTSW 11 106,094,427 (GRCm39) missense probably damaging 0.99
R6449:Ccdc47 UTSW 11 106,095,811 (GRCm39) missense probably damaging 1.00
R6981:Ccdc47 UTSW 11 106,093,563 (GRCm39) missense probably benign 0.04
R7136:Ccdc47 UTSW 11 106,095,830 (GRCm39) missense probably benign 0.01
R7170:Ccdc47 UTSW 11 106,093,304 (GRCm39) missense probably benign 0.01
R7340:Ccdc47 UTSW 11 106,091,799 (GRCm39) missense possibly damaging 0.68
R7799:Ccdc47 UTSW 11 106,101,143 (GRCm39) missense possibly damaging 0.84
R8335:Ccdc47 UTSW 11 106,099,085 (GRCm39) missense probably damaging 1.00
R8335:Ccdc47 UTSW 11 106,099,084 (GRCm39) missense possibly damaging 0.85
R8487:Ccdc47 UTSW 11 106,092,971 (GRCm39) missense possibly damaging 0.61
R8752:Ccdc47 UTSW 11 106,095,818 (GRCm39) missense probably damaging 0.99
R9157:Ccdc47 UTSW 11 106,093,208 (GRCm39) critical splice donor site probably null
R9504:Ccdc47 UTSW 11 106,101,155 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACAAATGCACTGTAGCCAGC -3'
(R):5'- AAAGTATCGACTTCTGTCTATGGG -3'

Sequencing Primer
(F):5'- ACTGTAGCCAGCATGCCATG -3'
(R):5'- GTATCGACTTCTGTCTATGGGCTTTC -3'
Posted On 2016-09-01