Incidental Mutation 'R8788:Cd72'
ID 670743
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 068607-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R8788 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 43447724-43454720 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43450185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 241 (E241G)
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 benign
Transcript: ENSMUST00000030179
AA Change: E241G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030179
Gene: ENSMUSG00000028459
AA Change: E241G

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: E187G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095708
Gene: ENSMUSG00000028459
AA Change: E187G

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: E217G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095709
Gene: ENSMUSG00000028459
AA Change: E217G

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: E241G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103558
Gene: ENSMUSG00000028459
AA Change: E241G

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: E241G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103559
Gene: ENSMUSG00000028459
AA Change: E241G

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (53/53)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 A T 10: 69,718,256 (GRCm39) L502F unknown Het
Btbd8 A G 5: 107,618,853 (GRCm39) *252W probably null Het
Btnl9 T A 11: 49,066,614 (GRCm39) M336L probably benign Het
Cdh23 T A 10: 60,324,372 (GRCm39) N296I probably damaging Het
Celf6 C A 9: 59,485,750 (GRCm39) S30R possibly damaging Het
Crxos T C 7: 15,632,499 (GRCm39) Y102H probably benign Het
Csmd3 A T 15: 47,470,513 (GRCm39) S2477T Het
Evi2a T A 11: 79,418,531 (GRCm39) R26S probably benign Het
Ezr T C 17: 7,021,392 (GRCm39) M182V probably benign Het
Fat2 G T 11: 55,171,929 (GRCm39) A2928D possibly damaging Het
Fetub A T 16: 22,758,182 (GRCm39) K322* probably null Het
Fscb T C 12: 64,518,395 (GRCm39) T1024A unknown Het
Gdpd1 A G 11: 86,950,318 (GRCm39) V85A probably damaging Het
Gm38119 G T 3: 92,645,537 (GRCm39) P19H unknown Het
Gpr182 T C 10: 127,586,529 (GRCm39) T141A probably benign Het
Inpp5d G A 1: 87,611,484 (GRCm39) G312D probably damaging Het
Kif26b G A 1: 178,357,090 (GRCm39) probably benign Het
Krtap5-1 ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG 7: 141,850,333 (GRCm39) probably benign Het
Lcor C T 19: 41,573,698 (GRCm39) R818W probably damaging Het
Maf T A 8: 116,432,612 (GRCm39) I331F probably damaging Het
Mark3 C A 12: 111,613,124 (GRCm39) S529R probably benign Het
Mmp10 A G 9: 7,502,687 (GRCm39) probably benign Het
Mrps30 T C 13: 118,523,538 (GRCm39) E78G possibly damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Nhsl3 A G 4: 129,119,743 (GRCm39) V97A probably benign Het
Or4c116 T C 2: 88,942,626 (GRCm39) T77A probably benign Het
Pcdh12 G A 18: 38,416,109 (GRCm39) L339F probably benign Het
Pdgfd A G 9: 6,377,000 (GRCm39) S365G probably benign Het
Piezo1 T C 8: 123,228,533 (GRCm39) M281V Het
Prkg2 C T 5: 99,117,839 (GRCm39) E501K probably damaging Het
Recql5 T C 11: 115,786,628 (GRCm39) I563V probably benign Het
Rfx7 T C 9: 72,524,795 (GRCm39) S662P probably benign Het
Ric8a A G 7: 140,438,806 (GRCm39) T252A probably benign Het
Sbf1 C T 15: 89,186,062 (GRCm39) R984H probably damaging Het
Sel1l3 G T 5: 53,332,148 (GRCm39) Y412* probably null Het
Slc17a6 G A 7: 51,298,908 (GRCm39) A224T probably damaging Het
Slco1a8 A T 6: 141,933,570 (GRCm39) V425D probably benign Het
Smarca4 T C 9: 21,550,024 (GRCm39) I378T probably damaging Het
Tatdn1 T C 15: 58,762,543 (GRCm39) *265W probably null Het
Tcaf2 A G 6: 42,606,472 (GRCm39) L494P probably damaging Het
Tcl1b2 T C 12: 105,113,380 (GRCm39) L11P probably benign Het
Thrb A G 14: 18,002,558 (GRCm38) E119G probably damaging Het
Tll2 T C 19: 41,109,814 (GRCm39) T317A probably benign Het
Tob2 AGATGATGA AGATGA 15: 81,735,928 (GRCm39) probably benign Het
Upk1b A G 16: 38,607,463 (GRCm39) L88P probably damaging Het
Uri1 T C 7: 37,661,003 (GRCm39) I30V Het
Ush2a A T 1: 188,475,816 (GRCm39) R2918* probably null Het
Vax1 T C 19: 59,158,247 (GRCm39) D72G unknown Het
Vmn2r38 C A 7: 9,078,482 (GRCm39) M633I probably benign Het
Vmn2r95 A G 17: 18,671,790 (GRCm39) D581G probably benign Het
Vps13d A G 4: 144,813,305 (GRCm39) F3324L Het
Xrcc6 C T 15: 81,911,583 (GRCm39) L309F probably damaging Het
Xrra1 A G 7: 99,555,761 (GRCm39) Y376C probably benign Het
Zfp329 T C 7: 12,544,490 (GRCm39) T345A possibly damaging Het
Zfp574 T A 7: 24,779,816 (GRCm39) N279K unknown Het
Zfp804b T C 5: 6,822,635 (GRCm39) M143V 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
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
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'- TGCAAACCATGGCATGTGTG -3'
(R):5'- CAAGGTTGCCTAGTGTTAGGGC -3'

Sequencing Primer
(F):5'- AGATGTGCACCGCCAGTC -3'
(R):5'- CCTAGTGTTAGGGCAGATTTTAATC -3'
Posted On 2021-04-30