Incidental Mutation 'IGL03253:Cd47'
ID414593
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd47
Ensembl Gene ENSMUSG00000055447
Gene NameCD47 antigen (Rh-related antigen, integrin-associated signal transducer)
SynonymsB430305P08Rik, 9130415E20Rik, integrin-associated protein, Itgp, IAP
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03253
Quality Score
Status
Chromosome16
Chromosomal Location49800533-49915010 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 49894198 bp
ZygosityHeterozygous
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]
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 probably benign
Transcript: ENSMUST00000230836
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231187
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: 71,140,883 V98I probably benign Het
Aadacl4 G T 4: 144,623,288 V372L probably benign Het
Acp5 A T 9: 22,127,787 I210N probably damaging Het
Ash1l G A 3: 88,984,674 A1287T probably damaging Het
AU018091 A T 7: 3,164,172 C72S probably damaging Het
Ccdc178 G A 18: 21,845,011 Q800* probably null Het
Clca2 T A 3: 145,071,563 H849L probably benign Het
Cmya5 G A 13: 93,091,270 Q2437* probably null Het
Depdc5 T C 5: 32,868,813 probably benign Het
Erp44 T A 4: 48,208,750 I237F probably benign Het
Gm8394 A G 10: 85,313,692 noncoding transcript Het
Gramd1a C T 7: 31,139,846 W8* probably null Het
Gucy2d C T 7: 98,451,664 A398V probably benign Het
Hecw2 T C 1: 53,832,716 E1357G possibly damaging Het
Ighv1-11 T C 12: 114,615,848 probably benign Het
Itih3 A C 14: 30,911,923 probably null Het
Kcnk5 A G 14: 20,142,337 V252A probably benign Het
Kif14 A G 1: 136,487,460 E771G probably damaging Het
Klc1 T C 12: 111,781,644 probably benign Het
Myom3 A G 4: 135,783,097 E567G possibly damaging Het
Olfr1242 A G 2: 89,493,799 V171A possibly damaging Het
Pfpl A G 19: 12,430,029 D548G probably damaging Het
Rad54l2 A G 9: 106,704,223 V833A probably damaging Het
Scnn1g A T 7: 121,737,933 K6* probably null Het
Sun1 T C 5: 139,223,586 probably benign Het
Synj2 A G 17: 6,003,159 probably null Het
Ttc1 T A 11: 43,738,823 E172V probably benign Het
Ttn A G 2: 76,769,020 V19215A probably damaging Het
Vwa3a A G 7: 120,778,869 I461V probably benign Het
Wdr73 A G 7: 80,897,946 M110T probably benign Het
Zfand4 A T 6: 116,284,809 D111V probably damaging Het
Zscan4f T A 7: 11,401,343 N225K probably benign Het
Other mutations in Cd47
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0675:Cd47 UTSW 16 49906799 missense possibly damaging 0.61
R1374:Cd47 UTSW 16 49894180 missense probably damaging 1.00
R1651:Cd47 UTSW 16 49894228 missense possibly damaging 0.93
R1712:Cd47 UTSW 16 49894180 missense probably damaging 1.00
R1803:Cd47 UTSW 16 49867806 missense possibly damaging 0.87
R3720:Cd47 UTSW 16 49867842 missense probably benign 0.09
R3722:Cd47 UTSW 16 49867842 missense probably benign 0.09
R4525:Cd47 UTSW 16 49867792 missense probably benign 0.15
R5366:Cd47 UTSW 16 49896373 missense probably damaging 1.00
R6878:Cd47 UTSW 16 49910869 missense possibly damaging 0.82
R7219:Cd47 UTSW 16 49908077 missense possibly damaging 0.50
R7470:Cd47 UTSW 16 49884222 missense
R8068:Cd47 UTSW 16 49895416 missense
R8554:Cd47 UTSW 16 49867941 missense probably benign 0.00
R8772:Cd47 UTSW 16 49884212 missense
Posted On2016-08-02