Incidental Mutation 'R5098:Cd72'
ID 388121
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 042687-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R5098 (G1)
Quality Score 214
Status Validated
Chromosome 4
Chromosomal Location 43447724-43454720 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 43452610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 74 (G74R)
Ref Sequence ENSEMBL: ENSMUSP00000095708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030179] [ENSMUST00000060864] [ENSMUST00000098104] [ENSMUST00000098105] [ENSMUST00000107925] [ENSMUST00000107926] [ENSMUST00000138981]
AlphaFold P21855
Predicted Effect possibly damaging
Transcript: ENSMUST00000030179
AA Change: G128R

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030179
Gene: ENSMUSG00000028459
AA Change: G128R

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: G74R

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095708
Gene: ENSMUSG00000028459
AA Change: G74R

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 possibly damaging
Transcript: ENSMUST00000098105
AA Change: G104R

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095709
Gene: ENSMUSG00000028459
AA Change: G104R

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 possibly damaging
Transcript: ENSMUST00000107925
AA Change: G128R

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103558
Gene: ENSMUSG00000028459
AA Change: G128R

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 possibly damaging
Transcript: ENSMUST00000107926
AA Change: G128R

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103559
Gene: ENSMUSG00000028459
AA Change: G128R

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: ENSMUST00000133110
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140284
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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 100% (54/54)
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
Abca8b T C 11: 109,847,944 (GRCm39) I784V probably benign Het
Agxt A G 1: 93,065,029 (GRCm39) H146R probably benign Het
Art5 A G 7: 101,747,177 (GRCm39) F201L probably damaging Het
Bcl2a1b T A 9: 89,081,432 (GRCm39) M7K probably benign Het
Card10 G A 15: 78,660,917 (GRCm39) A1030V probably benign Het
Ccdc66 G A 14: 27,220,750 (GRCm39) T58M probably damaging Het
Cdc27 T C 11: 104,398,113 (GRCm39) K749R probably damaging Het
Commd3 A T 2: 18,678,988 (GRCm39) T102S possibly damaging Het
Cyp2f2 A G 7: 26,829,304 (GRCm39) T270A possibly damaging Het
Dclre1b A G 3: 103,716,452 (GRCm39) probably benign Het
Dennd1b T A 1: 139,061,459 (GRCm39) D380E probably damaging Het
Dhx58 T C 11: 100,585,999 (GRCm39) E674G probably benign Het
Dnaaf9 A G 2: 130,640,101 (GRCm39) S128P probably damaging Het
Ecpas T C 4: 58,877,048 (GRCm39) D129G probably damaging Het
Exoc5 T C 14: 49,286,304 (GRCm39) T108A possibly damaging Het
Fat4 T C 3: 38,942,438 (GRCm39) S444P probably benign Het
Gm3327 A T 14: 44,362,292 (GRCm39) I64F unknown Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gpr15 T A 16: 58,538,890 (GRCm39) R66S probably damaging Het
Hmga1b T C 11: 120,654,018 (GRCm39) S102P probably benign Het
Kat6b G A 14: 21,669,083 (GRCm39) probably benign Het
Kdm1b A G 13: 47,216,467 (GRCm39) Y279C probably damaging Het
Krtap9-3 C A 11: 99,488,816 (GRCm39) C22F probably benign Het
Map3k14 T A 11: 103,115,185 (GRCm39) D817V probably damaging Het
Mybpc1 T C 10: 88,381,926 (GRCm39) D588G probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2t6 A G 14: 14,175,683 (GRCm38) V133A probably benign Het
Or5g29 A G 2: 85,420,976 (GRCm39) I31V probably benign Het
Pcdhb20 A G 18: 37,637,858 (GRCm39) D128G probably damaging Het
Pgap6 A T 17: 26,337,902 (GRCm39) N429Y probably damaging Het
Ppil6 A G 10: 41,366,616 (GRCm39) E47G probably null Het
Rad17 A T 13: 100,754,154 (GRCm39) *689K probably null Het
Scin A T 12: 40,127,541 (GRCm39) Y416* probably null Het
Serf1 A G 13: 100,245,575 (GRCm39) T18A probably benign Het
Sik2 T C 9: 50,906,891 (GRCm39) probably benign Het
Slc39a8 C A 3: 135,563,918 (GRCm39) N254K probably benign Het
Spint3 A G 2: 164,411,821 (GRCm39) F63L probably damaging Het
Suox A T 10: 128,507,027 (GRCm39) S334T probably damaging Het
Tas2r119 A G 15: 32,178,228 (GRCm39) M265V probably benign Het
Tmem126b A G 7: 90,118,850 (GRCm39) L146P probably damaging Het
Trpc3 G T 3: 36,717,047 (GRCm39) D330E probably benign Het
Ugt2a2 T C 5: 87,612,040 (GRCm39) E290G possibly damaging Het
Ugt2b37 T A 5: 87,390,812 (GRCm39) T352S probably damaging Het
Vmn1r40 T C 6: 89,691,930 (GRCm39) V249A probably damaging Het
Zc3h18 A G 8: 123,113,608 (GRCm39) D200G probably damaging Het
Zfp652 T C 11: 95,643,762 (GRCm39) V140A probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- CAGGCTTGTAGTTGCTGCTC -3'
(R):5'- TGAAGTCTTAGAGCACCGGG -3'

Sequencing Primer
(F):5'- TCAGCGTCCTCGTGAGTC -3'
(R):5'- CTGGAGGAAGTGCACTCAAGTCTC -3'
Posted On 2016-06-06