Incidental Mutation 'R1824:Cr2'
ID 206635
Institutional Source Beutler Lab
Gene Symbol Cr2
Ensembl Gene ENSMUSG00000026616
Gene Name complement receptor 2
Synonyms C3DR, CD21, Cr-1, Cr1, CD35, Cr-2
MMRRC Submission 039852-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R1824 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 195136811-195176716 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 195157316 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 601 (V601A)
Ref Sequence ENSEMBL: ENSMUSP00000141538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082321] [ENSMUST00000193356] [ENSMUST00000193801] [ENSMUST00000195120] [ENSMUST00000210219]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000082321
AA Change: V601A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080938
Gene: ENSMUSG00000026616
AA Change: V601A

DomainStartEndE-ValueType
CCP 23 82 1.01e-11 SMART
CCP 91 147 9.1e-14 SMART
CCP 155 211 1.9e-16 SMART
CCP 216 272 1.6e-9 SMART
CCP 277 343 1.01e-11 SMART
CCP 352 407 1.2e-13 SMART
CCP 411 467 2.34e-16 SMART
CCP 472 523 1.24e0 SMART
CCP 528 594 4.48e-13 SMART
CCP 603 658 1.95e-13 SMART
CCP 718 778 1.75e-15 SMART
CCP 787 842 2.06e-12 SMART
CCP 850 906 7.92e-14 SMART
CCP 911 967 1.29e-13 SMART
transmembrane domain 975 997 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192604
Predicted Effect probably damaging
Transcript: ENSMUST00000193356
AA Change: V304A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141706
Gene: ENSMUSG00000026616
AA Change: V304A

DomainStartEndE-ValueType
CCP 1 46 1.2e-1 SMART
CCP 55 110 5.9e-16 SMART
CCP 114 170 1.1e-18 SMART
CCP 175 226 6.1e-3 SMART
CCP 231 297 2.2e-15 SMART
CCP 306 361 9.4e-16 SMART
CCP 421 481 8.3e-18 SMART
CCP 490 545 1e-14 SMART
CCP 553 609 4e-16 SMART
CCP 614 670 6.2e-16 SMART
transmembrane domain 678 700 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193801
SMART Domains Protein: ENSMUSP00000141276
Gene: ENSMUSG00000026616

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000195120
AA Change: V601A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141538
Gene: ENSMUSG00000026616
AA Change: V601A

DomainStartEndE-ValueType
CCP 23 82 4.9e-14 SMART
CCP 91 147 4.5e-16 SMART
CCP 155 211 9.1e-19 SMART
CCP 216 272 8e-12 SMART
CCP 277 343 5e-14 SMART
CCP 352 407 5.9e-16 SMART
CCP 411 467 1.1e-18 SMART
CCP 472 523 6.1e-3 SMART
CCP 528 594 2.2e-15 SMART
CCP 603 658 9.4e-16 SMART
CCP 718 778 8.3e-18 SMART
CCP 787 842 1e-14 SMART
CCP 850 906 4e-16 SMART
CCP 911 967 6.2e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195737
Predicted Effect unknown
Transcript: ENSMUST00000210219
AA Change: V977A
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane protein, which functions as a receptor for Epstein-Barr virus (EBV) binding on B and T lymphocytes. Genetic variations in this gene are associated with susceptibility to systemic lupus erythematosus type 9 (SLEB9). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired humoral immune responses to T cell-dependent antigens, with limited affinity maturation, and reduced memory B cell and germinal center formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik T C 10: 70,872,256 (GRCm38) noncoding transcript Het
Aadacl2fm1 C A 3: 59,932,580 (GRCm38) Y24* probably null Het
Abl1 T A 2: 31,800,644 (GRCm38) M706K probably benign Het
Abtb1 T C 6: 88,836,554 (GRCm38) T401A probably benign Het
Acd A G 8: 105,700,490 (GRCm38) L96P probably damaging Het
Arsi G A 18: 60,916,651 (GRCm38) G202E probably benign Het
Arsi T A 18: 60,912,297 (GRCm38) W20R probably damaging Het
Asic3 C T 5: 24,413,751 (GRCm38) Q14* probably null Het
Asxl3 T A 18: 22,522,068 (GRCm38) I1045N probably damaging Het
Atr T C 9: 95,936,421 (GRCm38) I2149T probably damaging Het
Begain A G 12: 109,033,099 (GRCm38) probably null Het
Brca2 C T 5: 150,536,922 (GRCm38) T554I possibly damaging Het
Brd10 T C 19: 29,716,414 (GRCm38) N1960S probably damaging Het
C1s2 C T 6: 124,635,682 (GRCm38) V11I probably benign Het
Cacna1i T C 15: 80,376,789 (GRCm38) F1333L possibly damaging Het
Camsap2 T C 1: 136,273,783 (GRCm38) T662A possibly damaging Het
Cep164 C T 9: 45,778,928 (GRCm38) V1367M probably damaging Het
Cfap46 C A 7: 139,639,602 (GRCm38) A1316S probably benign Het
Cic T C 7: 25,288,266 (GRCm38) S553P probably damaging Het
Cilk1 T A 9: 78,157,862 (GRCm38) D351E probably benign Het
Clcn2 C T 16: 20,715,962 (GRCm38) A12T probably benign Het
Clip2 A G 5: 134,503,227 (GRCm38) Y540H probably benign Het
Coil A G 11: 88,982,097 (GRCm38) N428S possibly damaging Het
Cpxm1 A C 2: 130,395,697 (GRCm38) V196G probably damaging Het
Cyp3a25 T A 5: 145,984,953 (GRCm38) K390N probably damaging Het
Dclre1a T C 19: 56,546,718 (GRCm38) probably null Het
Dennd4a G C 9: 64,859,358 (GRCm38) probably null Het
Dlg5 T C 14: 24,149,444 (GRCm38) H1464R probably benign Het
Dmac2 T G 7: 25,624,792 (GRCm38) M225R probably damaging Het
Dnah8 T C 17: 30,731,180 (GRCm38) V1991A possibly damaging Het
Dscam A C 16: 96,825,581 (GRCm38) V376G probably benign Het
Dync1li1 A G 9: 114,709,184 (GRCm38) D203G probably benign Het
Eva1c A G 16: 90,866,443 (GRCm38) T22A probably benign Het
Fam110b A G 4: 5,799,029 (GRCm38) D149G probably benign Het
Fras1 A T 5: 96,770,688 (GRCm38) I3528F probably damaging Het
Fsip1 T C 2: 118,232,908 (GRCm38) D360G probably damaging Het
Galnt14 T C 17: 73,709,939 (GRCm38) T41A probably benign Het
Gdf3 T A 6: 122,609,962 (GRCm38) Q2L probably benign Het
Glrp1 A G 1: 88,509,789 (GRCm38) probably null Het
Gm3336 C G 8: 70,720,417 (GRCm38) probably null Het
Gm8674 C T 13: 49,900,808 (GRCm38) noncoding transcript Het
Gnat1 A G 9: 107,676,575 (GRCm38) Y226H probably damaging Het
Grk5 T C 19: 61,089,972 (GRCm38) V489A probably damaging Het
H1f8 A G 6: 115,948,758 (GRCm38) Y1C probably null Het
Igfbpl1 C A 4: 45,826,406 (GRCm38) A130S probably benign Het
Impdh1 T A 6: 29,205,088 (GRCm38) D261V probably benign Het
Itgal T A 7: 127,314,060 (GRCm38) S610T probably damaging Het
Jcad A G 18: 4,649,293 (GRCm38) T55A probably benign Het
Jup G A 11: 100,374,137 (GRCm38) R663* probably null Het
Kalrn C T 16: 34,294,215 (GRCm38) G556D probably damaging Het
Krt81 T C 15: 101,460,139 (GRCm38) E411G probably damaging Het
Lcat T C 8: 105,939,888 (GRCm38) E334G probably damaging Het
Lhcgr T C 17: 88,750,157 (GRCm38) E302G probably benign Het
Magi1 A G 6: 93,699,639 (GRCm38) V913A possibly damaging Het
Mrpl19 A T 6: 81,964,079 (GRCm38) probably null Het
Muc4 G T 16: 32,755,933 (GRCm38) probably benign Het
Mycbp2 A G 14: 103,252,509 (GRCm38) V953A possibly damaging Het
Myo3a G A 2: 22,396,243 (GRCm38) V600I probably benign Het
Ndufv3 G A 17: 31,531,245 (GRCm38) R467Q probably damaging Het
Ngef A G 1: 87,503,264 (GRCm38) probably null Het
Nisch A T 14: 31,176,432 (GRCm38) probably benign Het
Nlrp4c G A 7: 6,066,956 (GRCm38) probably null Het
Nup153 A T 13: 46,713,747 (GRCm38) S154T probably damaging Het
Obscn A G 11: 58,994,832 (GRCm38) probably benign Het
Or2t1 T A 14: 14,328,774 (GRCm38) L221Q probably damaging Het
Or4a74 G T 2: 89,609,349 (GRCm38) P251H probably damaging Het
Or6c219 T C 10: 129,945,337 (GRCm38) M242V possibly damaging Het
Otogl T C 10: 107,779,831 (GRCm38) N1869S probably benign Het
Phf24 G T 4: 42,934,661 (GRCm38) C136F probably damaging Het
Phldb2 A T 16: 45,826,011 (GRCm38) V65E probably benign Het
Pkhd1 C A 1: 20,347,457 (GRCm38) G2490V probably damaging Het
Prl8a8 A T 13: 27,508,450 (GRCm38) M186K probably damaging Het
Qars1 T C 9: 108,514,610 (GRCm38) V70A probably damaging Het
Rac1 C T 5: 143,517,225 (GRCm38) V14I probably benign Het
Rapgef5 T A 12: 117,688,684 (GRCm38) probably null Het
Slc16a12 G A 19: 34,670,878 (GRCm38) T405M possibly damaging Het
Slc17a6 A G 7: 51,661,546 (GRCm38) Y336C probably damaging Het
Slc30a9 T C 5: 67,348,052 (GRCm38) L441P probably damaging Het
Slc45a2 T C 15: 11,022,086 (GRCm38) S305P probably damaging Het
Sod3 G T 5: 52,368,162 (GRCm38) V68L probably benign Het
Sp1 T G 15: 102,431,003 (GRCm38) S773A possibly damaging Het
Spen C A 4: 141,472,785 (GRCm38) G2821C probably damaging Het
Tagap1 A G 17: 6,956,026 (GRCm38) S424P probably benign Het
Tbc1d22a T C 15: 86,235,569 (GRCm38) V22A possibly damaging Het
Tfec C T 6: 16,840,468 (GRCm38) probably null Het
Thsd7a A T 6: 12,409,042 (GRCm38) probably null Het
Tnfsf15 C A 4: 63,733,351 (GRCm38) G112V probably benign Het
Tnfsf9 A G 17: 57,105,738 (GRCm38) T103A probably benign Het
Tnxb C T 17: 34,692,333 (GRCm38) R1537* probably null Het
Tpra1 A G 6: 88,911,823 (GRCm38) N329S probably benign Het
Ttc12 A G 9: 49,456,884 (GRCm38) F281S probably damaging Het
Unc79 A G 12: 103,059,320 (GRCm38) N322S probably damaging Het
Unk G T 11: 116,030,442 (GRCm38) probably benign Het
Usp4 G T 9: 108,348,008 (GRCm38) G31W probably damaging Het
Vcan G T 13: 89,705,212 (GRCm38) A543D possibly damaging Het
Vil1 A C 1: 74,418,447 (GRCm38) I80L probably benign Het
Vmn2r27 C T 6: 124,231,634 (GRCm38) G51S probably benign Het
Vpreb1a A G 16: 16,869,071 (GRCm38) probably null Het
Zbtb6 C T 2: 37,429,817 (GRCm38) C33Y probably damaging Het
Zfp330 A T 8: 82,766,015 (GRCm38) C189* probably null Het
Zfp942 T A 17: 21,928,541 (GRCm38) H369L probably damaging Het
Zfp943 T A 17: 21,992,380 (GRCm38) I149K probably benign Het
Zfyve19 G A 2: 119,211,535 (GRCm38) V162M probably benign Het
Other mutations in Cr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:Cr2 APN 1 195,154,251 (GRCm38) missense possibly damaging 0.76
IGL01326:Cr2 APN 1 195,141,221 (GRCm38) missense probably null 1.00
IGL01358:Cr2 APN 1 195,159,820 (GRCm38) missense probably damaging 1.00
IGL01410:Cr2 APN 1 195,163,234 (GRCm38) missense possibly damaging 0.49
IGL01468:Cr2 APN 1 195,168,535 (GRCm38) missense probably damaging 1.00
IGL01608:Cr2 APN 1 195,155,220 (GRCm38) missense possibly damaging 0.50
IGL01810:Cr2 APN 1 195,159,595 (GRCm38) missense possibly damaging 0.49
IGL01843:Cr2 APN 1 195,150,914 (GRCm38) splice site probably benign
IGL02332:Cr2 APN 1 195,160,322 (GRCm38) missense probably benign 0.19
IGL02934:Cr2 APN 1 195,154,325 (GRCm38) splice site probably benign
IGL02938:Cr2 APN 1 195,166,388 (GRCm38) missense probably damaging 1.00
IGL03149:Cr2 APN 1 195,166,366 (GRCm38) missense probably damaging 1.00
IGL03327:Cr2 APN 1 195,169,759 (GRCm38) missense probably damaging 1.00
IGL03346:Cr2 APN 1 195,169,759 (GRCm38) missense probably damaging 1.00
Pillar UTSW 1 195,155,888 (GRCm38) nonsense probably null
PIT4354001:Cr2 UTSW 1 195,166,309 (GRCm38) missense probably damaging 1.00
PIT4418001:Cr2 UTSW 1 195,157,452 (GRCm38) missense probably benign 0.08
R0128:Cr2 UTSW 1 195,166,231 (GRCm38) missense probably damaging 0.99
R0130:Cr2 UTSW 1 195,166,231 (GRCm38) missense probably damaging 0.99
R0380:Cr2 UTSW 1 195,157,407 (GRCm38) missense probably damaging 1.00
R0538:Cr2 UTSW 1 195,160,359 (GRCm38) splice site probably benign
R0605:Cr2 UTSW 1 195,163,596 (GRCm38) splice site probably benign
R0626:Cr2 UTSW 1 195,171,111 (GRCm38) missense possibly damaging 0.95
R1135:Cr2 UTSW 1 195,157,190 (GRCm38) missense probably damaging 1.00
R1396:Cr2 UTSW 1 195,169,253 (GRCm38) splice site probably null
R1422:Cr2 UTSW 1 195,171,125 (GRCm38) missense probably benign 0.01
R1467:Cr2 UTSW 1 195,157,509 (GRCm38) missense probably damaging 1.00
R1467:Cr2 UTSW 1 195,157,509 (GRCm38) missense probably damaging 1.00
R1511:Cr2 UTSW 1 195,155,272 (GRCm38) missense possibly damaging 0.92
R1572:Cr2 UTSW 1 195,163,314 (GRCm38) missense probably damaging 1.00
R1714:Cr2 UTSW 1 195,151,686 (GRCm38) missense possibly damaging 0.46
R1748:Cr2 UTSW 1 195,155,905 (GRCm38) nonsense probably null
R1761:Cr2 UTSW 1 195,155,123 (GRCm38) critical splice donor site probably null
R1893:Cr2 UTSW 1 195,155,187 (GRCm38) missense probably benign 0.03
R1990:Cr2 UTSW 1 195,154,150 (GRCm38) missense possibly damaging 0.63
R1991:Cr2 UTSW 1 195,154,150 (GRCm38) missense possibly damaging 0.63
R1992:Cr2 UTSW 1 195,154,150 (GRCm38) missense possibly damaging 0.63
R2191:Cr2 UTSW 1 195,163,381 (GRCm38) missense possibly damaging 0.94
R2276:Cr2 UTSW 1 195,157,368 (GRCm38) missense possibly damaging 0.94
R2277:Cr2 UTSW 1 195,157,368 (GRCm38) missense possibly damaging 0.94
R3548:Cr2 UTSW 1 195,155,888 (GRCm38) nonsense probably null
R3743:Cr2 UTSW 1 195,149,966 (GRCm38) splice site probably benign
R3941:Cr2 UTSW 1 195,165,814 (GRCm38) missense probably damaging 0.97
R3963:Cr2 UTSW 1 195,159,739 (GRCm38) missense probably damaging 1.00
R4211:Cr2 UTSW 1 195,156,328 (GRCm38) missense probably damaging 0.96
R4484:Cr2 UTSW 1 195,154,174 (GRCm38) missense probably damaging 1.00
R4546:Cr2 UTSW 1 195,171,041 (GRCm38) missense possibly damaging 0.94
R4791:Cr2 UTSW 1 195,155,935 (GRCm38) missense probably damaging 1.00
R4801:Cr2 UTSW 1 195,163,311 (GRCm38) missense probably damaging 1.00
R4802:Cr2 UTSW 1 195,163,311 (GRCm38) missense probably damaging 1.00
R4874:Cr2 UTSW 1 195,176,570 (GRCm38) missense possibly damaging 0.82
R4885:Cr2 UTSW 1 195,158,731 (GRCm38) missense possibly damaging 0.92
R4889:Cr2 UTSW 1 195,176,585 (GRCm38) missense possibly damaging 0.70
R5154:Cr2 UTSW 1 195,159,446 (GRCm38) missense probably damaging 1.00
R5574:Cr2 UTSW 1 195,141,236 (GRCm38) missense probably damaging 1.00
R5594:Cr2 UTSW 1 195,157,190 (GRCm38) missense probably damaging 1.00
R5645:Cr2 UTSW 1 195,154,273 (GRCm38) missense probably damaging 1.00
R5700:Cr2 UTSW 1 195,159,757 (GRCm38) missense probably damaging 0.96
R5929:Cr2 UTSW 1 195,171,111 (GRCm38) missense possibly damaging 0.91
R6237:Cr2 UTSW 1 195,157,502 (GRCm38) missense probably damaging 1.00
R6299:Cr2 UTSW 1 195,168,646 (GRCm38) missense probably damaging 1.00
R6368:Cr2 UTSW 1 195,168,472 (GRCm38) missense probably damaging 1.00
R6406:Cr2 UTSW 1 195,169,771 (GRCm38) missense probably damaging 1.00
R6618:Cr2 UTSW 1 195,157,379 (GRCm38) missense probably damaging 0.98
R6684:Cr2 UTSW 1 195,171,021 (GRCm38) nonsense probably null
R6720:Cr2 UTSW 1 195,155,200 (GRCm38) missense probably damaging 0.97
R6866:Cr2 UTSW 1 195,151,691 (GRCm38) missense probably damaging 1.00
R6915:Cr2 UTSW 1 195,171,146 (GRCm38) missense probably benign 0.06
R7057:Cr2 UTSW 1 195,151,610 (GRCm38) missense possibly damaging 0.83
R7117:Cr2 UTSW 1 195,160,601 (GRCm38) missense possibly damaging 0.79
R7200:Cr2 UTSW 1 195,163,249 (GRCm38) missense probably damaging 1.00
R7209:Cr2 UTSW 1 195,168,724 (GRCm38) missense probably damaging 1.00
R7350:Cr2 UTSW 1 195,155,286 (GRCm38) missense probably benign 0.21
R7414:Cr2 UTSW 1 195,150,036 (GRCm38) missense probably benign
R7453:Cr2 UTSW 1 195,165,257 (GRCm38) splice site probably null
R7479:Cr2 UTSW 1 195,158,410 (GRCm38) critical splice donor site probably null
R7480:Cr2 UTSW 1 195,154,176 (GRCm38) missense probably damaging 1.00
R7570:Cr2 UTSW 1 195,169,340 (GRCm38) nonsense probably null
R7666:Cr2 UTSW 1 195,154,225 (GRCm38) missense probably damaging 1.00
R7921:Cr2 UTSW 1 195,151,667 (GRCm38) missense possibly damaging 0.94
R7923:Cr2 UTSW 1 195,168,687 (GRCm38) missense probably benign 0.03
R8396:Cr2 UTSW 1 195,158,068 (GRCm38) missense probably damaging 1.00
R8503:Cr2 UTSW 1 195,163,542 (GRCm38) missense probably benign
R8517:Cr2 UTSW 1 195,155,899 (GRCm38) missense probably benign 0.03
R8773:Cr2 UTSW 1 195,158,605 (GRCm38) missense probably damaging 1.00
R8849:Cr2 UTSW 1 195,157,239 (GRCm38) missense probably damaging 1.00
R8896:Cr2 UTSW 1 195,169,273 (GRCm38) missense possibly damaging 0.58
R8938:Cr2 UTSW 1 195,171,116 (GRCm38) missense probably damaging 0.99
R9027:Cr2 UTSW 1 195,151,721 (GRCm38) missense probably benign 0.08
R9045:Cr2 UTSW 1 195,155,372 (GRCm38) missense possibly damaging 0.61
R9116:Cr2 UTSW 1 195,158,669 (GRCm38) nonsense probably null
R9137:Cr2 UTSW 1 195,168,332 (GRCm38) critical splice donor site probably null
R9476:Cr2 UTSW 1 195,158,108 (GRCm38) missense probably damaging 0.97
R9497:Cr2 UTSW 1 195,168,435 (GRCm38) missense probably damaging 0.99
R9510:Cr2 UTSW 1 195,158,108 (GRCm38) missense probably damaging 0.97
R9752:Cr2 UTSW 1 195,141,267 (GRCm38) missense probably benign 0.37
R9799:Cr2 UTSW 1 195,160,680 (GRCm38) missense probably benign 0.02
X0028:Cr2 UTSW 1 195,149,982 (GRCm38) missense probably benign 0.09
X0066:Cr2 UTSW 1 195,166,321 (GRCm38) missense probably damaging 0.99
Z1176:Cr2 UTSW 1 195,154,153 (GRCm38) missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- GGCACCAAATTTTATCTCCAGC -3'
(R):5'- GGAGTTCCTCAGAAGATGTCCC -3'

Sequencing Primer
(F):5'- AAATTTTATCTCCAGCCCCTCAATTC -3'
(R):5'- GTTCCTCAGAAGATGTCCCATATGG -3'
Posted On 2014-06-23