Incidental Mutation 'R8159:Cd72'
ID 633420
Institutional Source Beutler Lab
Gene Symbol Cd72
Ensembl Gene ENSMUSG00000028459
Gene Name CD72 antigen
Synonyms Ly-m19, Ly-19, Ly-32, Lyb-2
MMRRC Submission 067585-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R8159 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 43447724-43454720 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43450174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 245 (Y245H)
Ref Sequence ENSEMBL: ENSMUSP00000030179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030179] [ENSMUST00000060864] [ENSMUST00000098104] [ENSMUST00000098105] [ENSMUST00000107925] [ENSMUST00000107926] [ENSMUST00000138981]
AlphaFold P21855
Predicted Effect probably damaging
Transcript: ENSMUST00000030179
AA Change: Y245H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030179
Gene: ENSMUSG00000028459
AA Change: Y245H

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 damaging
Transcript: ENSMUST00000098104
AA Change: Y191H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095708
Gene: ENSMUSG00000028459
AA Change: Y191H

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 damaging
Transcript: ENSMUST00000098105
AA Change: Y221H

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095709
Gene: ENSMUSG00000028459
AA Change: Y221H

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 damaging
Transcript: ENSMUST00000107925
AA Change: Y245H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103558
Gene: ENSMUSG00000028459
AA Change: Y245H

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 damaging
Transcript: ENSMUST00000107926
AA Change: Y245H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103559
Gene: ENSMUSG00000028459
AA Change: Y245H

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 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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency 100% (49/49)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 C A 3: 59,843,843 (GRCm39) P179Q probably damaging Het
Abcc1 C T 16: 14,290,794 (GRCm39) T1468I probably damaging Het
Adrb3 A C 8: 27,718,099 (GRCm39) C117G probably benign Het
Aff4 A T 11: 53,302,721 (GRCm39) S1065C possibly damaging Het
Agrn G A 4: 156,256,825 (GRCm39) A1260V probably benign Het
Auts2 A G 5: 131,488,963 (GRCm39) probably null Het
BC005537 T A 13: 24,993,916 (GRCm39) H159Q probably benign Het
Cacna2d4 A G 6: 119,274,488 (GRCm39) D625G probably benign Het
Ceacam20 G T 7: 19,710,109 (GRCm39) V378L probably damaging Het
Chpf C T 1: 75,455,436 (GRCm39) R105K probably null Het
Chst9 A T 18: 15,585,365 (GRCm39) Y399* probably null Het
Cntn5 A G 9: 10,145,386 (GRCm39) I108T possibly damaging Het
Col14a1 A G 15: 55,291,324 (GRCm39) T931A unknown Het
D630045J12Rik T C 6: 38,105,410 (GRCm39) H1890R probably damaging Het
Dkk2 T C 3: 131,880,739 (GRCm39) I128T probably benign Het
Ece2 C T 16: 20,430,534 (GRCm39) P54S probably damaging Het
Fhip2a T C 19: 57,372,697 (GRCm39) probably null Het
Fry A T 5: 150,322,998 (GRCm39) T1050S probably benign Het
Gfra2 A G 14: 71,133,397 (GRCm39) K76E probably damaging Het
Gigyf1 A T 5: 137,520,457 (GRCm39) D423V unknown Het
Gpr180 G A 14: 118,391,302 (GRCm39) G235R probably damaging Het
Herc1 A G 9: 66,369,003 (GRCm39) Q403R probably null Het
Hes5 A G 4: 155,045,502 (GRCm39) N17S probably benign Het
Insrr T A 3: 87,707,735 (GRCm39) L59H probably damaging Het
Irs1 A C 1: 82,266,290 (GRCm39) I642S probably damaging Het
Mettl22 T C 16: 8,306,633 (GRCm39) V363A probably benign Het
Notch2 A G 3: 98,028,238 (GRCm39) H983R possibly damaging Het
Nynrin T G 14: 56,100,587 (GRCm39) S126A probably damaging Het
Nynrin A T 14: 56,102,517 (GRCm39) M729L probably benign Het
Or51v14 G A 7: 103,261,347 (GRCm39) T71I possibly damaging Het
Or7e178 A C 9: 20,226,015 (GRCm39) I67S possibly damaging Het
Otof C T 5: 30,537,538 (GRCm39) G1257D probably benign Het
Pals2 A T 6: 50,171,527 (GRCm39) E392V probably benign Het
Pcdhgc5 A G 18: 37,954,175 (GRCm39) E483G probably benign Het
Phldb2 T C 16: 45,680,747 (GRCm39) E20G possibly damaging Het
Ptprz1 A G 6: 23,001,662 (GRCm39) I1251V probably benign Het
Rfx2 A T 17: 57,110,605 (GRCm39) M127K probably benign Het
Slc9a3 A G 13: 74,312,407 (GRCm39) N668S probably benign Het
Smg6 G A 11: 74,929,465 (GRCm39) V965M probably damaging Het
Spen A T 4: 141,202,314 (GRCm39) H2104Q possibly damaging Het
Svep1 C T 4: 58,069,396 (GRCm39) E2797K possibly damaging Het
Svep1 T C 4: 58,087,815 (GRCm39) S1755G probably benign Het
Sycp2 A C 2: 177,996,770 (GRCm39) S1144R probably damaging Het
Tsen54 T A 11: 115,711,804 (GRCm39) L407* probably null Het
Uba1y T A Y: 828,806 (GRCm39) I538K possibly damaging Het
Vil1 C A 1: 74,463,136 (GRCm39) H440N probably benign Het
Other mutations in Cd72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00777:Cd72 APN 4 43,448,365 (GRCm39) missense possibly damaging 0.79
IGL02861:Cd72 APN 4 43,448,332 (GRCm39) missense probably benign 0.33
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
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
Predicted Primers PCR Primer
(F):5'- CGTATCTGTTCTGGGGAAGC -3'
(R):5'- TCAAGGGCTAAAGCTGATGG -3'

Sequencing Primer
(F):5'- TGCAAACCATGGCATGTGTG -3'
(R):5'- GCTAAAGCTGATGGAGACATGATG -3'
Posted On 2020-07-13