Incidental Mutation 'R1651:Cd47'
ID 186422
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 039687-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1651 (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 49714591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 147 (V147A)
Ref Sequence ENSEMBL: ENSMUSP00000155856 (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 possibly damaging
Transcript: ENSMUST00000084838
AA Change: V200A

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099853
Gene: ENSMUSG00000055447
AA Change: V200A

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: V147A

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000110140
Gene: ENSMUSG00000055447
AA Change: V147A

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: V147A

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000229104
AA Change: V126A

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000229206
AA Change: V179A

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000229640
AA Change: V147A

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect possibly damaging
Transcript: ENSMUST00000230281
AA Change: V126A

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000230641
AA Change: V200A

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000230836
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231187
Meta Mutation Damage Score 0.1491 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 97% (66/68)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 T A 2: 150,690,341 (GRCm39) Q118L probably benign Het
Acss1 A T 2: 150,480,357 (GRCm39) V238D possibly damaging Het
Adgrv1 T C 13: 81,635,972 (GRCm39) I3512M probably benign Het
Arhgap32 A G 9: 32,171,096 (GRCm39) Q1292R probably damaging Het
Bpnt2 A G 4: 4,792,737 (GRCm39) F123L probably damaging Het
Caskin1 C T 17: 24,721,186 (GRCm39) R509C possibly damaging Het
Cdc20b T A 13: 113,215,258 (GRCm39) Y275* probably null Het
Chd4 A G 6: 125,100,547 (GRCm39) D1745G possibly damaging Het
Crmp1 T A 5: 37,430,783 (GRCm39) S250T probably damaging Het
Crybg2 A G 4: 133,802,214 (GRCm39) K1125E probably benign Het
Crybg2 C A 4: 133,802,136 (GRCm39) P1099T possibly damaging Het
Csf1r T A 18: 61,243,473 (GRCm39) I163N possibly damaging Het
Dicer1 T C 12: 104,675,064 (GRCm39) T733A probably damaging Het
Edar A G 10: 58,441,875 (GRCm39) V339A possibly damaging Het
Efcab3 A G 11: 104,611,492 (GRCm39) R445G probably benign Het
Efcab6 A G 15: 83,755,194 (GRCm39) I1374T possibly damaging Het
Erbb2 G A 11: 98,324,283 (GRCm39) R757K probably damaging Het
Fam98a A G 17: 75,854,710 (GRCm39) V33A probably benign Het
Farp2 T C 1: 93,531,191 (GRCm39) probably null Het
Fcmr A G 1: 130,805,988 (GRCm39) T315A probably benign Het
Gdf9 G A 11: 53,324,576 (GRCm39) R115Q probably damaging Het
Gm22697+Rbm27 AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC AGGTCCCGGCCCAGGCCC 18: 42,434,948 (GRCm39) probably benign Het
H2-M10.1 A G 17: 36,636,648 (GRCm39) V52A probably damaging Het
Hspg2 T A 4: 137,260,748 (GRCm39) C1582* probably null Het
Icam2 C T 11: 106,268,782 (GRCm39) V229M probably damaging Het
Itga7 C T 10: 128,784,693 (GRCm39) P735L probably benign Het
Kbtbd3 C A 9: 4,330,589 (GRCm39) P321Q possibly damaging Het
Kcnma1 T A 14: 23,364,262 (GRCm39) T997S probably damaging Het
Kifc5b T C 17: 27,144,504 (GRCm39) F541S probably damaging Het
Klhdc9 C A 1: 171,188,016 (GRCm39) V72L probably benign Het
Krt84 G A 15: 101,434,398 (GRCm39) S523F possibly damaging Het
Lrrtm4 A G 6: 79,999,511 (GRCm39) T308A probably benign Het
Map1b T C 13: 99,569,091 (GRCm39) E1210G unknown Het
Mocs3 A G 2: 168,073,489 (GRCm39) Y312C probably damaging Het
Mrps7 G T 11: 115,495,581 (GRCm39) E40* probably null Het
Msantd5f1 A T 4: 73,605,621 (GRCm39) N344I possibly damaging Het
Msln T C 17: 25,972,382 (GRCm39) H50R probably benign Het
Myb A G 10: 21,002,097 (GRCm39) F748S probably damaging Het
Myo10 C A 15: 25,742,455 (GRCm39) H590N probably damaging Het
Naip5 T C 13: 100,358,419 (GRCm39) E939G probably benign Het
Nbeal1 T A 1: 60,239,278 (GRCm39) V107E probably damaging Het
Nrcam A T 12: 44,623,462 (GRCm39) N1011I probably damaging Het
Or14c44 A G 7: 86,057,078 (GRCm39) probably benign Het
Or1ak2 T C 2: 36,827,335 (GRCm39) L68P probably damaging Het
Or4c118 A C 2: 88,975,346 (GRCm39) V7G probably damaging Het
Pcgf6 A T 19: 47,037,441 (GRCm39) C153S probably damaging Het
Phrf1 T C 7: 140,817,434 (GRCm39) V81A probably benign Het
Ppp4r4 A G 12: 103,550,331 (GRCm39) N36D probably benign Het
Prkch A G 12: 73,805,775 (GRCm39) T517A possibly damaging Het
Rasal1 A T 5: 120,790,910 (GRCm39) K33* probably null Het
Rp1l1 G A 14: 64,268,442 (GRCm39) E1343K probably damaging Het
Serpinb6e T C 13: 34,020,406 (GRCm39) D234G probably benign Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Smyd3 T G 1: 178,871,441 (GRCm39) I313L probably benign Het
Tdrd9 C A 12: 111,991,140 (GRCm39) D543E probably damaging Het
Tet1 A G 10: 62,715,453 (GRCm39) L114P probably damaging Het
Tmprss11c G A 5: 86,387,283 (GRCm39) P212S probably damaging Het
Tmx2 A T 2: 84,506,461 (GRCm39) M77K probably damaging Het
Traf3 T G 12: 111,228,470 (GRCm39) D560E probably damaging Het
Trappc12 C T 12: 28,741,776 (GRCm39) M711I probably benign Het
Trim2 A G 3: 84,074,957 (GRCm39) probably null Het
Vmn2r18 A G 5: 151,485,464 (GRCm39) S677P probably damaging Het
Wdr7 T A 18: 63,853,847 (GRCm39) L60* probably null Het
Wdr93 T C 7: 79,399,830 (GRCm39) F140L probably benign Het
Zfp638 A G 6: 83,931,719 (GRCm39) T802A probably benign 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
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
Predicted Primers PCR Primer
(F):5'- AGGCAATAGAGTATCACCTACCCCTTC -3'
(R):5'- CTGCATCACTTGCCACAAGCTG -3'

Sequencing Primer
(F):5'- TGGCTTATAAAAACGCATGGGG -3'
(R):5'- AGCTGTCACAGCAGCCC -3'
Posted On 2014-05-09