Incidental Mutation 'IGL02861:Cd72'
ID 362144
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd72
Ensembl Gene ENSMUSG00000028459
Gene Name CD72 antigen
Synonyms Ly-m19, Ly-19, Ly-32, Lyb-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # IGL02861
Quality Score
Status
Chromosome 4
Chromosomal Location 43447724-43454720 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 43448332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 316 (A316V)
Ref Sequence ENSEMBL: ENSMUSP00000095709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030179] [ENSMUST00000060864] [ENSMUST00000098104] [ENSMUST00000098105] [ENSMUST00000107925] [ENSMUST00000107926] [ENSMUST00000138981]
AlphaFold P21855
Predicted Effect probably benign
Transcript: ENSMUST00000030179
AA Change: A340V

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000030179
Gene: ENSMUSG00000028459
AA Change: A340V

DomainStartEndE-ValueType
low complexity region 44 60 N/A INTRINSIC
transmembrane domain 96 118 N/A INTRINSIC
coiled coil region 137 223 N/A INTRINSIC
CLECT 232 348 2.28e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000060864
SMART Domains Protein: ENSMUSP00000050087
Gene: ENSMUSG00000028458

DomainStartEndE-ValueType
low complexity region 2 33 N/A INTRINSIC
Pfam:Pkinase 52 306 5.4e-46 PFAM
Pfam:Pkinase_Tyr 52 306 3.1e-47 PFAM
low complexity region 316 330 N/A INTRINSIC
low complexity region 345 370 N/A INTRINSIC
low complexity region 403 424 N/A INTRINSIC
low complexity region 472 490 N/A INTRINSIC
low complexity region 513 525 N/A INTRINSIC
low complexity region 549 565 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098104
AA Change: A279V

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000095708
Gene: ENSMUSG00000028459
AA Change: A279V

DomainStartEndE-ValueType
low complexity region 44 60 N/A INTRINSIC
coiled coil region 83 169 N/A INTRINSIC
CLECT 178 287 2.48e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000098105
AA Change: A316V

PolyPhen 2 Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000095709
Gene: ENSMUSG00000028459
AA Change: A316V

DomainStartEndE-ValueType
low complexity region 44 60 N/A INTRINSIC
transmembrane domain 72 94 N/A INTRINSIC
coiled coil region 113 199 N/A INTRINSIC
CLECT 208 324 2.28e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107925
AA Change: A326V

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000103558
Gene: ENSMUSG00000028459
AA Change: A326V

DomainStartEndE-ValueType
low complexity region 44 60 N/A INTRINSIC
transmembrane domain 96 118 N/A INTRINSIC
coiled coil region 137 223 N/A INTRINSIC
CLECT 232 334 2.65e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107926
AA Change: A333V

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000103559
Gene: ENSMUSG00000028459
AA Change: A333V

DomainStartEndE-ValueType
low complexity region 44 60 N/A INTRINSIC
transmembrane domain 96 118 N/A INTRINSIC
coiled coil region 137 223 N/A INTRINSIC
CLECT 232 341 2.48e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141198
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133110
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156810
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140284
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137178
Predicted Effect probably benign
Transcript: ENSMUST00000138981
SMART Domains Protein: ENSMUSP00000121067
Gene: ENSMUSG00000028458

DomainStartEndE-ValueType
low complexity region 2 33 N/A INTRINSIC
Pfam:Pkinase 52 174 7.6e-29 PFAM
Pfam:Pkinase_Tyr 52 175 1.5e-26 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in impaired B cell development and delayed maturation, resulting in reduced numbers of mature B cells and an expansion of pre-B cells. Mice have fewer peripheral mature B-2 cells and more B-1 cells. B cells are hyperproliferative in response to stimuli. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A T 13: 61,001,146 (GRCm39) probably benign Het
6430548M08Rik G A 8: 120,876,863 (GRCm39) R157H probably damaging Het
Amer3 A G 1: 34,627,206 (GRCm39) K482E probably damaging Het
Ankrd11 A T 8: 123,622,566 (GRCm39) S429T probably damaging Het
Ano3 T A 2: 110,569,157 (GRCm39) N125I probably damaging Het
BC106179 T A 16: 23,042,746 (GRCm39) probably benign Het
Bclaf3 T C X: 158,338,524 (GRCm39) I457T possibly damaging Het
Cbr3 T G 16: 93,482,007 (GRCm39) V121G probably damaging Het
Cd44 A G 2: 102,662,826 (GRCm39) probably null Het
Cdc27 A T 11: 104,413,657 (GRCm39) probably benign Het
Cdon A T 9: 35,398,253 (GRCm39) Q990L probably damaging Het
Clk2 T C 3: 89,080,706 (GRCm39) W231R probably damaging Het
Cpsf2 G A 12: 101,965,825 (GRCm39) V597I probably benign Het
D630003M21Rik A G 2: 158,042,918 (GRCm39) V874A probably benign Het
Daam2 A G 17: 49,776,455 (GRCm39) F811L probably damaging Het
Ddx54 T C 5: 120,756,195 (GRCm39) probably benign Het
Dysf T A 6: 84,016,519 (GRCm39) L59Q probably damaging Het
Eps8 A G 6: 137,476,597 (GRCm39) Y601H probably damaging Het
Faf2 T C 13: 54,796,235 (GRCm39) Y131H probably damaging Het
Hectd4 T A 5: 121,445,067 (GRCm39) D101E possibly damaging Het
Hk2 T C 6: 82,737,139 (GRCm39) T30A possibly damaging Het
Il27 A T 7: 126,191,821 (GRCm39) L77Q probably damaging Het
Klhdc1 T A 12: 69,298,225 (GRCm39) V83D possibly damaging Het
Manba T G 3: 135,276,024 (GRCm39) S822A probably benign Het
Mterf2 A C 10: 84,956,195 (GRCm39) V143G probably damaging Het
Ncapd3 A G 9: 26,981,195 (GRCm39) D895G probably benign Het
Or4c115 T A 2: 88,927,801 (GRCm39) I157L probably benign Het
Or6n1 T A 1: 173,916,602 (GRCm39) probably benign Het
Panx1 T C 9: 14,919,101 (GRCm39) K253E probably benign Het
Phc1 T A 6: 122,300,748 (GRCm39) probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Ptchd4 A G 17: 42,688,208 (GRCm39) E250G probably damaging Het
Rp1 G T 1: 4,416,375 (GRCm39) S1579* probably null Het
Rrp1 A G 10: 78,245,056 (GRCm39) probably benign Het
Ryr3 A G 2: 112,483,186 (GRCm39) L4187P possibly damaging Het
Serpinc1 A T 1: 160,827,561 (GRCm39) I387F probably damaging Het
Slc2a7 G A 4: 150,252,836 (GRCm39) C492Y probably benign Het
Slf1 A G 13: 77,274,478 (GRCm39) probably benign Het
Spta1 T A 1: 174,039,164 (GRCm39) L1169Q probably damaging Het
Stap1 T A 5: 86,219,824 (GRCm39) probably benign Het
Taf6 A G 5: 138,182,147 (GRCm39) L66P probably damaging Het
Ttn T C 2: 76,632,841 (GRCm39) E14071G probably damaging Het
Unk A G 11: 115,947,125 (GRCm39) H586R possibly damaging Het
Zfpm2 A C 15: 40,966,662 (GRCm39) K917T probably damaging Het
Other mutations in Cd72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00777:Cd72 APN 4 43,448,365 (GRCm39) missense possibly damaging 0.79
IGL03208:Cd72 APN 4 43,452,337 (GRCm39) missense probably damaging 0.99
grovel UTSW 4 43,454,515 (GRCm39) missense possibly damaging 0.46
scrape UTSW 4 43,452,628 (GRCm39) missense probably damaging 0.96
R0239:Cd72 UTSW 4 43,453,163 (GRCm39) missense probably benign 0.06
R0239:Cd72 UTSW 4 43,453,163 (GRCm39) missense probably benign 0.06
R3848:Cd72 UTSW 4 43,452,525 (GRCm39) missense possibly damaging 0.69
R3971:Cd72 UTSW 4 43,449,491 (GRCm39) missense probably damaging 0.99
R4872:Cd72 UTSW 4 43,449,563 (GRCm39) unclassified probably benign
R5098:Cd72 UTSW 4 43,452,610 (GRCm39) missense probably damaging 0.97
R5471:Cd72 UTSW 4 43,448,345 (GRCm39) missense probably benign 0.00
R5890:Cd72 UTSW 4 43,454,475 (GRCm39) missense probably damaging 0.98
R7132:Cd72 UTSW 4 43,452,444 (GRCm39) missense possibly damaging 0.82
R7478:Cd72 UTSW 4 43,454,515 (GRCm39) missense possibly damaging 0.46
R8152:Cd72 UTSW 4 43,452,601 (GRCm39) missense possibly damaging 0.92
R8159:Cd72 UTSW 4 43,450,174 (GRCm39) missense probably damaging 0.99
R8442:Cd72 UTSW 4 43,450,109 (GRCm39) missense possibly damaging 0.77
R8788:Cd72 UTSW 4 43,450,185 (GRCm39) missense probably benign
R8789:Cd72 UTSW 4 43,452,628 (GRCm39) missense probably damaging 0.96
R8964:Cd72 UTSW 4 43,450,218 (GRCm39) missense probably damaging 0.99
R9331:Cd72 UTSW 4 43,454,320 (GRCm39) missense possibly damaging 0.94
R9373:Cd72 UTSW 4 43,450,141 (GRCm39) missense possibly damaging 0.90
R9726:Cd72 UTSW 4 43,452,641 (GRCm39) critical splice acceptor site probably null
Posted On 2015-12-18