Incidental Mutation 'R4525:Cd47'
ID 334424
Institutional Source Beutler Lab
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
MMRRC Submission 041767-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4525 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 49671691-49732799 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 49688155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 25 (V25A)
Ref Sequence ENSEMBL: ENSMUSP00000099853 (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: V25A

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000099853
Gene: ENSMUSG00000055447
AA Change: V25A

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
SMART Domains Protein: ENSMUSP00000110140
Gene: ENSMUSG00000055447

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
Predicted Effect probably benign
Transcript: ENSMUST00000229104
Predicted Effect probably benign
Transcript: ENSMUST00000229206
AA Change: V25A

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000229640
Predicted Effect probably benign
Transcript: ENSMUST00000230281
Predicted Effect probably benign
Transcript: ENSMUST00000230641
AA Change: V25A

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000230836
AA Change: V25A

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231187
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 97% (32/33)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik A G 2: 32,464,388 (GRCm39) probably benign Het
Ampd1 T C 3: 103,002,049 (GRCm39) V510A probably damaging Het
Aoc1 A G 6: 48,883,609 (GRCm39) Y495C probably damaging Het
Asap2 G A 12: 21,279,293 (GRCm39) probably null Het
Cer1 A G 4: 82,802,906 (GRCm39) F139L possibly damaging Het
Cpne3 G T 4: 19,523,206 (GRCm39) P527H probably damaging Het
Erbin T C 13: 103,993,600 (GRCm39) I347V probably benign Het
Gm17542 T C 10: 58,549,435 (GRCm39) D31G probably null Het
Hivep1 T A 13: 42,309,289 (GRCm39) C510S probably benign Het
Hnrnpk A G 13: 58,541,696 (GRCm39) probably benign Het
Iqcf4 T A 9: 106,447,827 (GRCm39) Q27H possibly damaging Het
Kcna4 C A 2: 107,125,410 (GRCm39) T48K possibly damaging Het
Loxhd1 T A 18: 77,444,608 (GRCm39) C336S probably damaging Het
Ltbp3 A G 19: 5,796,387 (GRCm39) T306A probably benign Het
Oplah G T 15: 76,189,709 (GRCm39) L176M probably damaging Het
Pon1 T C 6: 5,177,412 (GRCm39) probably null Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,133 (GRCm39) probably benign Het
Ryr3 A G 2: 112,483,966 (GRCm39) I3932T probably damaging Het
Shank1 A T 7: 44,004,014 (GRCm39) H1902L possibly damaging Het
Sipa1 T A 19: 5,701,985 (GRCm39) Q947L probably benign Het
Slit2 G T 5: 48,407,215 (GRCm39) C882F probably damaging Het
Speer4a1 A T 5: 26,244,341 (GRCm39) probably null Het
Spta1 A G 1: 174,034,676 (GRCm39) D1035G probably null Het
Tas2r140 T C 6: 133,032,207 (GRCm39) T184A possibly damaging Het
Timm10b A G 7: 105,332,013 (GRCm39) N828S probably benign Het
Tmem161b T C 13: 84,405,921 (GRCm39) I50T probably benign Het
Tnpo3 T C 6: 29,561,397 (GRCm39) N628D probably benign Het
Tnrc6a A G 7: 122,779,005 (GRCm39) T102A probably benign Het
Vmn2r70 A T 7: 85,208,787 (GRCm39) N563K probably damaging Het
Other mutations in Cd47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03253:Cd47 APN 16 49,714,561 (GRCm39) missense probably benign 0.11
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
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
Predicted Primers PCR Primer
(F):5'- ACTGGCTGGTGTGCAAATAATTTG -3'
(R):5'- GCCATTGATTAAGTCTGAGACTGAG -3'

Sequencing Primer
(F):5'- GTTGCTATTTTTCACCTTGTTCCTG -3'
(R):5'- AGTCTGAGACTGAGATTTTTGCAC -3'
Posted On 2015-08-18