Incidental Mutation 'R9447:Cd47'
ID 714027
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9447 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 49671691-49732799 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 49715822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 196 (T196K)
Ref Sequence ENSEMBL: ENSMUSP00000110140 (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 damaging
Transcript: ENSMUST00000084838
AA Change: T249K

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099853
Gene: ENSMUSG00000055447
AA Change: T249K

DomainStartEndE-ValueType
Pfam:V-set_CD47 8 137 2.2e-46 PFAM
Pfam:CD47 163 317 4.7e-62 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000110140
Gene: ENSMUSG00000055447
AA Change: T196K

DomainStartEndE-ValueType
Pfam:V-set_CD47 1 41 1.8e-15 PFAM
Pfam:CD47 42 199 6.8e-59 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000229101
AA Change: T196K

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000229104
AA Change: T175K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000229206
AA Change: T228K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect
Predicted Effect probably damaging
Transcript: ENSMUST00000230281
AA Change: T175K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000230641
AA Change: T249K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000230836
AA Change: T192K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.3%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 T A 3: 59,651,051 (GRCm39) Y58N probably damaging Het
Ago4 G A 4: 126,402,151 (GRCm39) P572S probably benign Het
Akr1c19 A G 13: 4,296,838 (GRCm39) I295V probably benign Het
Cadps2 A T 6: 23,323,297 (GRCm39) I1007K probably damaging Het
Cdrt4 T G 11: 62,883,418 (GRCm39) L40R probably damaging Het
Cox16 A T 12: 81,406,109 (GRCm39) C72S probably benign Het
Cyp2t4 G A 7: 26,854,717 (GRCm39) V66M possibly damaging Het
Daxx A T 17: 34,132,247 (GRCm39) D497V unknown Het
Ddt A G 10: 75,608,671 (GRCm39) V62A possibly damaging Het
Dhx57 A G 17: 80,549,523 (GRCm39) V1294A probably damaging Het
Dnaaf5 A G 5: 139,163,743 (GRCm39) T667A probably damaging Het
Dnase2a A C 8: 85,635,786 (GRCm39) S90R probably damaging Het
Dytn A G 1: 63,700,302 (GRCm39) V276A Het
Efcab8 G C 2: 153,646,861 (GRCm39) V397L unknown Het
Enpp6 A T 8: 47,483,600 (GRCm39) R131W probably damaging Het
Epm2a C T 10: 11,324,432 (GRCm39) H174Y possibly damaging Het
Fcho1 A G 8: 72,169,913 (GRCm39) L70P probably damaging Het
Fhip1b G T 7: 105,034,155 (GRCm39) T492K probably benign Het
Fstl4 G T 11: 53,077,166 (GRCm39) C641F probably damaging Het
Ganab C T 19: 8,886,894 (GRCm39) H327Y probably damaging Het
Gkn1 A G 6: 87,323,322 (GRCm39) Y164H probably benign Het
Gm57858 A G 3: 36,074,195 (GRCm39) V318A possibly damaging Het
Hpf1 A G 8: 61,348,618 (GRCm39) D111G probably damaging Het
Hs3st2 C T 7: 120,992,289 (GRCm39) R113W probably damaging Het
Ighm A T 12: 113,384,794 (GRCm39) L353Q Het
Krbox5 A G 13: 67,981,953 (GRCm39) E55G probably damaging Het
Ksr1 T C 11: 78,909,159 (GRCm39) D782G unknown Het
Lpin2 A G 17: 71,539,087 (GRCm39) K392E unknown Het
Lrrc4 A G 6: 28,830,650 (GRCm39) S322P probably benign Het
Man2a1 T C 17: 64,966,001 (GRCm39) V313A possibly damaging Het
Mctp1 A G 13: 76,727,904 (GRCm39) S9G probably benign Het
Morn5 A T 2: 35,969,525 (GRCm39) probably null Het
Mroh2b C T 15: 4,960,823 (GRCm39) A795V probably damaging Het
Ncf4 G T 15: 78,146,499 (GRCm39) A310S probably benign Het
Nedd4 T C 9: 72,577,381 (GRCm39) Y69H probably benign Het
Nras T C 3: 102,967,673 (GRCm39) F90L possibly damaging Het
Nrxn3 T C 12: 89,221,678 (GRCm39) F113L probably benign Het
Ntsr1 C T 2: 180,180,540 (GRCm39) T282I probably benign Het
Or1e1d-ps1 G T 11: 73,819,617 (GRCm39) C189F probably benign Het
Osbpl3 T A 6: 50,321,857 (GRCm39) K310* probably null Het
Pcca T C 14: 122,854,290 (GRCm39) V194A probably damaging Het
Plekha5 A G 6: 140,525,192 (GRCm39) Y900C probably damaging Het
Prss22 T C 17: 24,212,837 (GRCm39) D300G probably benign Het
Rad17 A T 13: 100,764,119 (GRCm39) Y451N probably damaging Het
Rnf181 G T 6: 72,337,570 (GRCm39) T97K probably damaging Het
Sec24d T C 3: 123,084,162 (GRCm39) S114P probably benign Het
Siae C A 9: 37,557,743 (GRCm39) Q517K probably benign Het
Smurf2 A T 11: 106,715,548 (GRCm39) V653D probably damaging Het
Sqor C A 2: 122,649,520 (GRCm39) T359K possibly damaging Het
Taf6 A T 5: 138,176,970 (GRCm39) *637R probably null Het
Tas2r109 A C 6: 132,957,270 (GRCm39) M220R probably damaging Het
Tlr2 T A 3: 83,748,445 (GRCm39) probably null Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tmem8b T G 4: 43,685,766 (GRCm39) L179R probably damaging Het
Tnfrsf10b T A 14: 70,013,608 (GRCm39) H179Q probably damaging Het
Trip11 T A 12: 101,850,148 (GRCm39) K1305N probably damaging Het
Ttn C A 2: 76,582,862 (GRCm39) W22677L probably damaging Het
Ube2r2 T C 4: 41,190,655 (GRCm39) V183A probably damaging Het
Ubqln4 T A 3: 88,464,124 (GRCm39) D208E probably benign Het
Ugt2a3 T A 5: 87,473,330 (GRCm39) N529I probably benign Het
Vmn1r125 A G 7: 21,006,627 (GRCm39) N175S probably benign Het
Xirp2 T A 2: 67,338,950 (GRCm39) I397K probably damaging Het
Zfp821 G A 8: 110,450,816 (GRCm39) V270I probably damaging Het
Zfp935 A G 13: 62,602,842 (GRCm39) V99A possibly 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
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
Predicted Primers PCR Primer
(F):5'- ATGGATCCTTTCATTTGGCCCTAG -3'
(R):5'- TTTGAGAAGTCCTAGCAACCTC -3'

Sequencing Primer
(F):5'- TCACGGTTTACAAGGTAGCACTG -3'
(R):5'- GCAACCTCAAAATTAATCTGAATGGG -3'
Posted On 2022-06-15