Incidental Mutation 'R3971:Cd72'
ID 310959
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 040839-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R3971 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 43447724-43454720 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 43449491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 275 (R275H)
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 damaging
Transcript: ENSMUST00000030179
AA Change: R299H

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030179
Gene: ENSMUSG00000028459
AA Change: R299H

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: R238H

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095708
Gene: ENSMUSG00000028459
AA Change: R238H

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: R275H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095709
Gene: ENSMUSG00000028459
AA Change: R275H

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: R292H

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103558
Gene: ENSMUSG00000028459
AA Change: R292H

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: R292H

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103559
Gene: ENSMUSG00000028459
AA Change: R292H

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: ENSMUST00000134850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140284
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137178
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133110
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141198
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156810
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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 95% (38/40)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat C T 8: 60,971,615 (GRCm39) P147L probably damaging Het
Apbb1ip T A 2: 22,713,506 (GRCm39) D120E unknown Het
Atp10b A G 11: 43,107,339 (GRCm39) D791G probably damaging Het
Aunip A G 4: 134,250,780 (GRCm39) K242E possibly damaging Het
Ccdc80 A G 16: 44,916,183 (GRCm39) E313G probably benign Het
Chrnb1 A G 11: 69,683,742 (GRCm39) probably benign Het
Coro2b C T 9: 62,336,522 (GRCm39) A251T possibly damaging Het
Cspg4b A G 13: 113,453,660 (GRCm39) E41G probably damaging Het
Ddr2 A G 1: 169,815,986 (GRCm39) F574L probably damaging Het
Dock1 G A 7: 134,348,637 (GRCm39) D284N probably damaging Het
Dync1h1 A G 12: 110,632,399 (GRCm39) H4506R probably benign Het
Fam174b T C 7: 73,416,348 (GRCm39) V147A probably damaging Het
Glp2r T A 11: 67,637,641 (GRCm39) D130V possibly damaging Het
Gm18856 A T 13: 14,139,433 (GRCm39) probably benign Het
Gm7247 A G 14: 51,602,841 (GRCm39) Y59C probably damaging Het
Hecw1 T C 13: 14,411,514 (GRCm39) D1062G probably damaging Het
Ifit2 A G 19: 34,551,441 (GRCm39) E327G probably benign Het
Ighv1-37 A T 12: 114,860,079 (GRCm39) S43T probably damaging Het
Man2b1 A G 8: 85,812,020 (GRCm39) N158S probably damaging Het
Mcoln1 T A 8: 3,557,408 (GRCm39) I138K probably benign Het
Mki67 A C 7: 135,297,859 (GRCm39) S2392A probably benign Het
Mrc2 G A 11: 105,218,857 (GRCm39) D193N possibly damaging Het
Myo5b C T 18: 74,873,598 (GRCm39) L1501F probably damaging Het
Nckap1l A G 15: 103,370,987 (GRCm39) K189E probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or6c69 T C 10: 129,747,742 (GRCm39) N135S probably benign Het
Otop1 A G 5: 38,457,533 (GRCm39) I431V probably benign Het
Psma8 A G 18: 14,890,444 (GRCm39) K195E possibly damaging Het
Rbm25 A G 12: 83,721,982 (GRCm39) T723A probably benign Het
Sema3b A G 9: 107,477,567 (GRCm39) S485P probably benign Het
Slc12a2 T A 18: 58,063,268 (GRCm39) L916Q possibly damaging Het
Spata31d1a T A 13: 59,849,971 (GRCm39) D719V possibly damaging Het
Synj1 A G 16: 90,788,491 (GRCm39) S86P probably damaging Het
Tmem130 T A 5: 144,692,131 (GRCm39) H91L probably benign Het
Tsc2 T C 17: 24,842,562 (GRCm39) D288G probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vps35l T C 7: 118,433,022 (GRCm39) I585T probably damaging Het
Wac T C 18: 7,916,175 (GRCm39) V303A probably damaging Het
Zfhx2 A G 14: 55,311,932 (GRCm39) V254A probably benign Het
Zfp993 A G 4: 146,742,089 (GRCm39) T138A 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
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
Predicted Primers PCR Primer
(F):5'- AGGCACTGTGGATGTAATATGG -3'
(R):5'- CACTGGAAGGATTTGGGAGC -3'

Sequencing Primer
(F):5'- CTAGCAGGTAGGACTACAGCCTG -3'
(R):5'- TGGAAGGATTTGGGAGCAATTAATTC -3'
Posted On 2015-04-29