Incidental Mutation 'IGL03253:Cd47'
ID 414593
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd47
Ensembl Gene ENSMUSG00000055447
Gene Name CD47 antigen (Rh-related antigen, integrin-associated signal transducer)
Synonyms IAP, 9130415E20Rik, Itgp, integrin-associated protein, B430305P08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03253
Quality Score
Status
Chromosome 16
Chromosomal Location 49671691-49732799 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 49714561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 190 (H190L)
Ref Sequence ENSEMBL: ENSMUSP00000155178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084838] [ENSMUST00000114496] [ENSMUST00000229101] [ENSMUST00000229104] [ENSMUST00000229206] [ENSMUST00000229640] [ENSMUST00000230281] [ENSMUST00000230641] [ENSMUST00000230836]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000084838
AA Change: H190L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099853
Gene: ENSMUSG00000055447
AA Change: H190L

DomainStartEndE-ValueType
Pfam:V-set_CD47 8 137 2.2e-46 PFAM
Pfam:CD47 163 317 4.7e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114496
AA Change: H137L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110140
Gene: ENSMUSG00000055447
AA Change: H137L

DomainStartEndE-ValueType
Pfam:V-set_CD47 1 41 1.8e-15 PFAM
Pfam:CD47 42 199 6.8e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229101
AA Change: H137L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000229104
AA Change: H116L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000229206
AA Change: H169L

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000229640
AA Change: H137L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000230281
AA Change: H116L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000230641
AA Change: H190L

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231187
Predicted Effect probably benign
Transcript: ENSMUST00000230836
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 membrane protein, which is involved in the increase in intracellular calcium concentration that occurs upon cell adhesion to extracellular matrix. The encoded protein is also a receptor for the C-terminal cell binding domain of thrombospondin, and it may play a role in membrane transport and signal transduction. This gene has broad tissue distribution, and is reduced in expression on Rh erythrocytes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygous mutation of this gene results in a reduced CD3+ fraction of peripheral lymphocytes and inability to clear infection by E.coli. Mutant animals are otherwise normal in appearance, survival, and fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G A 12: 71,187,657 (GRCm39) V98I probably benign Het
Aadacl4 G T 4: 144,349,858 (GRCm39) V372L probably benign Het
Acp5 A T 9: 22,039,083 (GRCm39) I210N probably damaging Het
Ash1l G A 3: 88,891,981 (GRCm39) A1287T probably damaging Het
AU018091 A T 7: 3,214,002 (GRCm39) C72S probably damaging Het
Ccdc178 G A 18: 21,978,068 (GRCm39) Q800* probably null Het
Clca3a2 T A 3: 144,777,324 (GRCm39) H849L probably benign Het
Cmya5 G A 13: 93,227,778 (GRCm39) Q2437* probably null Het
Depdc5 T C 5: 33,026,157 (GRCm39) probably benign Het
Erp44 T A 4: 48,208,750 (GRCm39) I237F probably benign Het
Gramd1a C T 7: 30,839,271 (GRCm39) W8* probably null Het
Gucy2d C T 7: 98,100,871 (GRCm39) A398V probably benign Het
Hecw2 T C 1: 53,871,875 (GRCm39) E1357G possibly damaging Het
Ighv1-11 T C 12: 114,579,468 (GRCm39) probably benign Het
Itih3 A C 14: 30,633,880 (GRCm39) probably null Het
Kcnk5 A G 14: 20,192,405 (GRCm39) V252A probably benign Het
Kif14 A G 1: 136,415,198 (GRCm39) E771G probably damaging Het
Klc1 T C 12: 111,748,078 (GRCm39) probably benign Het
Myom3 A G 4: 135,510,408 (GRCm39) E567G possibly damaging Het
Or4a70 A G 2: 89,324,143 (GRCm39) V171A possibly damaging Het
Pfpl A G 19: 12,407,393 (GRCm39) D548G probably damaging Het
Psma5-ps A G 10: 85,149,556 (GRCm39) noncoding transcript Het
Rad54l2 A G 9: 106,581,422 (GRCm39) V833A probably damaging Het
Scnn1g A T 7: 121,337,156 (GRCm39) K6* probably null Het
Sun1 T C 5: 139,209,341 (GRCm39) probably benign Het
Synj2 A G 17: 6,053,434 (GRCm39) probably null Het
Ttc1 T A 11: 43,629,650 (GRCm39) E172V probably benign Het
Ttn A G 2: 76,599,364 (GRCm39) V19215A probably damaging Het
Vwa3a A G 7: 120,378,092 (GRCm39) I461V probably benign Het
Wdr73 A G 7: 80,547,694 (GRCm39) M110T probably benign Het
Zfand4 A T 6: 116,261,770 (GRCm39) D111V probably damaging Het
Zscan4f T A 7: 11,135,270 (GRCm39) N225K probably benign Het
Other mutations in Cd47
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0675:Cd47 UTSW 16 49,727,162 (GRCm39) missense possibly damaging 0.61
R1374:Cd47 UTSW 16 49,714,543 (GRCm39) missense probably damaging 1.00
R1651:Cd47 UTSW 16 49,714,591 (GRCm39) missense possibly damaging 0.93
R1712:Cd47 UTSW 16 49,714,543 (GRCm39) missense probably damaging 1.00
R1803:Cd47 UTSW 16 49,688,169 (GRCm39) missense possibly damaging 0.87
R3720:Cd47 UTSW 16 49,688,205 (GRCm39) missense probably benign 0.09
R3722:Cd47 UTSW 16 49,688,205 (GRCm39) missense probably benign 0.09
R4525:Cd47 UTSW 16 49,688,155 (GRCm39) missense probably benign 0.15
R5366:Cd47 UTSW 16 49,716,736 (GRCm39) missense probably damaging 1.00
R6878:Cd47 UTSW 16 49,731,232 (GRCm39) missense possibly damaging 0.82
R7219:Cd47 UTSW 16 49,728,440 (GRCm39) missense possibly damaging 0.50
R7470:Cd47 UTSW 16 49,704,585 (GRCm39) missense
R8068:Cd47 UTSW 16 49,715,779 (GRCm39) missense
R8554:Cd47 UTSW 16 49,688,304 (GRCm39) missense probably benign 0.00
R8772:Cd47 UTSW 16 49,704,575 (GRCm39) missense
R9329:Cd47 UTSW 16 49,716,731 (GRCm39) missense
R9447:Cd47 UTSW 16 49,715,822 (GRCm39) missense
Posted On 2016-08-02