Incidental Mutation 'R7414:Cr2'
ID 575262
Institutional Source Beutler Lab
Gene Symbol Cr2
Ensembl Gene ENSMUSG00000026616
Gene Name complement receptor 2
Synonyms C3DR, CD21, Cr-2, Cr1, Cr-1, CD35
MMRRC Submission 045494-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # R7414 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 194819119-194859024 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 194832344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 981 (V981L)
Ref Sequence ENSEMBL: ENSMUSP00000080938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082321] [ENSMUST00000193356] [ENSMUST00000193801] [ENSMUST00000195120] [ENSMUST00000210219]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000082321
AA Change: V981L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000080938
Gene: ENSMUSG00000026616
AA Change: V981L

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 probably benign
Transcript: ENSMUST00000193356
AA Change: V684L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141706
Gene: ENSMUSG00000026616
AA Change: V684L

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 unknown
Transcript: ENSMUST00000193436
AA Change: C17F
Predicted Effect probably benign
Transcript: ENSMUST00000193801
SMART Domains Protein: ENSMUSP00000141276
Gene: ENSMUSG00000026616

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000195120
AA Change: C982F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141538
Gene: ENSMUSG00000026616
AA Change: C982F

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 probably benign
Transcript: ENSMUST00000210219
AA Change: V1357L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (98/101)
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082I17Rik G A 5: 139,349,779 (GRCm39) T90M probably damaging Het
Abca4 T A 3: 121,896,387 (GRCm39) S540T probably benign Het
Adcy4 G A 14: 56,019,090 (GRCm39) L156F probably benign Het
Adcyap1 T A 17: 93,510,256 (GRCm39) L95M probably damaging Het
Ahctf1 T C 1: 179,611,670 (GRCm39) T567A probably benign Het
Ankrd26 T C 6: 118,485,741 (GRCm39) I1378V possibly damaging Het
Ankrd44 T A 1: 54,706,539 (GRCm39) H639L probably damaging Het
Arfrp1 C T 2: 181,001,307 (GRCm39) R189Q possibly damaging Het
Astn2 T C 4: 65,459,193 (GRCm39) D1126G possibly damaging Het
Bap1 G C 14: 30,975,572 (GRCm39) G139R probably benign Het
Bms1 C T 6: 118,360,706 (GRCm39) R1254Q possibly damaging Het
Ceacam15 A G 7: 16,407,235 (GRCm39) V94A probably benign Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Cip2a T C 16: 48,821,998 (GRCm39) F209L probably benign Het
Clec2m T C 6: 129,302,596 (GRCm39) T144A probably benign Het
Clock T C 5: 76,410,611 (GRCm39) T87A probably benign Het
Cntrl A T 2: 35,055,479 (GRCm39) I1706L probably benign Het
Cxcr6 G A 9: 123,639,287 (GRCm39) W103* probably null Het
Dld A T 12: 31,385,525 (GRCm39) F272Y probably damaging Het
Dmrt2 T A 19: 25,650,950 (GRCm39) D45E probably benign Het
Eif2a T A 3: 58,433,502 (GRCm39) L8* probably null Het
Epg5 G T 18: 78,026,747 (GRCm39) R1246L possibly damaging Het
Ets1 T A 9: 32,664,153 (GRCm39) C350* probably null Het
Fam135b C T 15: 71,350,105 (GRCm39) R345Q probably damaging Het
Fbn2 C T 18: 58,229,122 (GRCm39) R696H probably damaging Het
Gbf1 C A 19: 46,271,797 (GRCm39) Y159* probably null Het
Gcsam T C 16: 45,437,301 (GRCm39) probably null Het
Gmpr2 G T 14: 55,910,259 (GRCm39) probably null Het
H2-T3 C A 17: 36,498,275 (GRCm39) V257L not run Het
Hadha A G 5: 30,331,610 (GRCm39) F449L possibly damaging Het
Haus3 T A 5: 34,323,477 (GRCm39) I378L probably benign Het
Hdac7 T A 15: 97,706,392 (GRCm39) H272L probably benign Het
Icam5 T C 9: 20,948,889 (GRCm39) V747A probably damaging Het
Ifrd2 G A 9: 107,467,370 (GRCm39) V81M possibly damaging Het
Insyn2a G T 7: 134,519,738 (GRCm39) A264D probably benign Het
Ipcef1 G T 10: 6,840,673 (GRCm39) C345* probably null Het
Ipmk T A 10: 71,217,124 (GRCm39) F223I probably damaging Het
Itpr2 A T 6: 146,274,706 (GRCm39) N825K probably benign Het
Itprid2 A G 2: 79,475,072 (GRCm39) K344E possibly damaging Het
Kazn G A 4: 141,836,649 (GRCm39) T530I Het
Kmt2d C T 15: 98,737,737 (GRCm39) V5120M unknown Het
Krt6b T G 15: 101,587,449 (GRCm39) D215A probably benign Het
Lgals12 T C 19: 7,581,335 (GRCm39) K124R probably damaging Het
Lpar6 T A 14: 73,476,240 (GRCm39) V67D probably damaging Het
Lrch3 T C 16: 32,818,883 (GRCm39) Y661H probably damaging Het
Lrrc32 A T 7: 98,149,201 (GRCm39) Q660H probably benign Het
Lurap1l T A 4: 80,871,991 (GRCm39) H161Q probably benign Het
Map3k19 A G 1: 127,766,189 (GRCm39) I245T probably damaging Het
Mcf2l T A 8: 13,069,022 (GRCm39) *1119K probably null Het
Mertk C A 2: 128,571,313 (GRCm39) A89E possibly damaging Het
Mical3 A T 6: 121,011,074 (GRCm39) Y375N probably damaging Het
Myo15a T A 11: 60,374,309 (GRCm39) D121E Het
N4bp2l1 T A 5: 150,499,758 (GRCm39) N116I probably damaging Het
Nbeal1 T C 1: 60,233,756 (GRCm39) probably null Het
Nlrp12 A T 7: 3,289,977 (GRCm39) D178E probably benign Het
Nt5c2 C A 19: 46,878,328 (GRCm39) G444C probably damaging Het
Or10g7 T A 9: 39,905,349 (GRCm39) M81K possibly damaging Het
Or2f1b T A 6: 42,739,762 (GRCm39) Y259N probably damaging Het
Or8b48 T C 9: 38,492,764 (GRCm39) F64L probably benign Het
Pdcl2 A C 5: 76,460,359 (GRCm39) S220A possibly damaging Het
Pip5kl1 T C 2: 32,468,247 (GRCm39) S138P possibly damaging Het
Pkd1l1 A T 11: 8,866,267 (GRCm39) N979K Het
Prkcb A T 7: 122,167,450 (GRCm39) T387S possibly damaging Het
Pxdc1 A G 13: 34,821,135 (GRCm39) probably benign Het
Sbf2 C T 7: 109,913,271 (GRCm39) E1668K possibly damaging Het
Sec16a T G 2: 26,313,643 (GRCm39) T455P Het
Sec24b C A 3: 129,803,514 (GRCm39) V412F probably benign Het
Serpina3b A G 12: 104,099,145 (GRCm39) N220S probably benign Het
Sgip1 C T 4: 102,824,821 (GRCm39) Q581* probably null Het
Shf A T 2: 122,190,063 (GRCm39) I175N possibly damaging Het
Slc16a10 G A 10: 40,017,992 (GRCm39) T14M probably benign Het
Slc22a4 A T 11: 53,888,254 (GRCm39) M258K probably benign Het
Slfn8 A T 11: 82,907,618 (GRCm39) Y308* probably null Het
Slfnl1 T C 4: 120,392,451 (GRCm39) Y249H probably damaging Het
Smchd1 T C 17: 71,782,074 (GRCm39) Y29C probably damaging Het
Snai1 C A 2: 167,380,588 (GRCm39) probably null Het
Sntg1 T C 1: 8,518,289 (GRCm39) Y368C probably damaging Het
Snx33 C T 9: 56,833,151 (GRCm39) R306H probably damaging Het
Spop G A 11: 95,365,334 (GRCm39) V126M probably damaging Het
Taar3 A T 10: 23,825,715 (GRCm39) Y87F probably damaging Het
Tarm1 C A 7: 3,545,318 (GRCm39) M177I probably benign Het
Tcerg1l A G 7: 137,819,786 (GRCm39) F485L probably damaging Het
Thsd7b A T 1: 129,556,717 (GRCm39) I435F probably damaging Het
Tiam2 A G 17: 3,464,388 (GRCm39) D39G possibly damaging Het
Tigd4 T C 3: 84,501,128 (GRCm39) V15A probably benign Het
Tll2 T C 19: 41,092,268 (GRCm39) D523G probably damaging Het
Tmem117 A G 15: 94,612,776 (GRCm39) D104G probably damaging Het
Tmem132b T C 5: 125,864,555 (GRCm39) L887P probably damaging Het
Tnfrsf26 A T 7: 143,168,642 (GRCm39) V132D probably damaging Het
Tomt T A 7: 101,549,715 (GRCm39) D191V probably damaging Het
Ttc39b T C 4: 83,160,459 (GRCm39) M373V probably damaging Het
Ttn G A 2: 76,568,493 (GRCm39) P27467S possibly damaging Het
Ttn A C 2: 76,573,130 (GRCm39) V25921G probably damaging Het
Ubxn2a A C 12: 4,941,381 (GRCm39) V75G probably damaging Het
Uchl5 A T 1: 143,682,433 (GRCm39) K319N unknown Het
Ugt2b1 T C 5: 87,073,693 (GRCm39) D222G probably damaging Het
Vmn1r213 A G 13: 23,195,446 (GRCm39) I10V unknown Het
Vps13b T C 15: 35,910,973 (GRCm39) I3579T probably damaging Het
Xpo5 T A 17: 46,532,295 (GRCm39) H443Q probably benign Het
Zfp316 A G 5: 143,250,407 (GRCm39) M2T unknown Het
Zscan4-ps2 A G 7: 11,251,359 (GRCm39) T160A possibly damaging Het
Other mutations in Cr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:Cr2 APN 1 194,836,559 (GRCm39) missense possibly damaging 0.76
IGL01326:Cr2 APN 1 194,823,529 (GRCm39) missense probably null 1.00
IGL01358:Cr2 APN 1 194,842,128 (GRCm39) missense probably damaging 1.00
IGL01410:Cr2 APN 1 194,845,542 (GRCm39) missense possibly damaging 0.49
IGL01468:Cr2 APN 1 194,850,843 (GRCm39) missense probably damaging 1.00
IGL01608:Cr2 APN 1 194,837,528 (GRCm39) missense possibly damaging 0.50
IGL01810:Cr2 APN 1 194,841,903 (GRCm39) missense possibly damaging 0.49
IGL01843:Cr2 APN 1 194,833,222 (GRCm39) splice site probably benign
IGL02332:Cr2 APN 1 194,842,630 (GRCm39) missense probably benign 0.19
IGL02934:Cr2 APN 1 194,836,633 (GRCm39) splice site probably benign
IGL02938:Cr2 APN 1 194,848,696 (GRCm39) missense probably damaging 1.00
IGL03149:Cr2 APN 1 194,848,674 (GRCm39) missense probably damaging 1.00
IGL03327:Cr2 APN 1 194,852,067 (GRCm39) missense probably damaging 1.00
IGL03346:Cr2 APN 1 194,852,067 (GRCm39) missense probably damaging 1.00
Pillar UTSW 1 194,838,196 (GRCm39) nonsense probably null
PIT4354001:Cr2 UTSW 1 194,848,617 (GRCm39) missense probably damaging 1.00
PIT4418001:Cr2 UTSW 1 194,839,760 (GRCm39) missense probably benign 0.08
R0128:Cr2 UTSW 1 194,848,539 (GRCm39) missense probably damaging 0.99
R0130:Cr2 UTSW 1 194,848,539 (GRCm39) missense probably damaging 0.99
R0380:Cr2 UTSW 1 194,839,715 (GRCm39) missense probably damaging 1.00
R0538:Cr2 UTSW 1 194,842,667 (GRCm39) splice site probably benign
R0605:Cr2 UTSW 1 194,845,904 (GRCm39) splice site probably benign
R0626:Cr2 UTSW 1 194,853,419 (GRCm39) missense possibly damaging 0.95
R1135:Cr2 UTSW 1 194,839,498 (GRCm39) missense probably damaging 1.00
R1396:Cr2 UTSW 1 194,851,561 (GRCm39) splice site probably null
R1422:Cr2 UTSW 1 194,853,433 (GRCm39) missense probably benign 0.01
R1467:Cr2 UTSW 1 194,839,817 (GRCm39) missense probably damaging 1.00
R1467:Cr2 UTSW 1 194,839,817 (GRCm39) missense probably damaging 1.00
R1511:Cr2 UTSW 1 194,837,580 (GRCm39) missense possibly damaging 0.92
R1572:Cr2 UTSW 1 194,845,622 (GRCm39) missense probably damaging 1.00
R1714:Cr2 UTSW 1 194,833,994 (GRCm39) missense possibly damaging 0.46
R1748:Cr2 UTSW 1 194,838,213 (GRCm39) nonsense probably null
R1761:Cr2 UTSW 1 194,837,431 (GRCm39) critical splice donor site probably null
R1824:Cr2 UTSW 1 194,839,624 (GRCm39) missense probably damaging 1.00
R1893:Cr2 UTSW 1 194,837,495 (GRCm39) missense probably benign 0.03
R1990:Cr2 UTSW 1 194,836,458 (GRCm39) missense possibly damaging 0.63
R1991:Cr2 UTSW 1 194,836,458 (GRCm39) missense possibly damaging 0.63
R1992:Cr2 UTSW 1 194,836,458 (GRCm39) missense possibly damaging 0.63
R2191:Cr2 UTSW 1 194,845,689 (GRCm39) missense possibly damaging 0.94
R2276:Cr2 UTSW 1 194,839,676 (GRCm39) missense possibly damaging 0.94
R2277:Cr2 UTSW 1 194,839,676 (GRCm39) missense possibly damaging 0.94
R3548:Cr2 UTSW 1 194,838,196 (GRCm39) nonsense probably null
R3743:Cr2 UTSW 1 194,832,274 (GRCm39) splice site probably benign
R3941:Cr2 UTSW 1 194,848,122 (GRCm39) missense probably damaging 0.97
R3963:Cr2 UTSW 1 194,842,047 (GRCm39) missense probably damaging 1.00
R4211:Cr2 UTSW 1 194,838,636 (GRCm39) missense probably damaging 0.96
R4484:Cr2 UTSW 1 194,836,482 (GRCm39) missense probably damaging 1.00
R4546:Cr2 UTSW 1 194,853,349 (GRCm39) missense possibly damaging 0.94
R4791:Cr2 UTSW 1 194,838,243 (GRCm39) missense probably damaging 1.00
R4801:Cr2 UTSW 1 194,845,619 (GRCm39) missense probably damaging 1.00
R4802:Cr2 UTSW 1 194,845,619 (GRCm39) missense probably damaging 1.00
R4874:Cr2 UTSW 1 194,858,878 (GRCm39) missense possibly damaging 0.82
R4885:Cr2 UTSW 1 194,841,039 (GRCm39) missense possibly damaging 0.92
R4889:Cr2 UTSW 1 194,858,893 (GRCm39) missense possibly damaging 0.70
R5154:Cr2 UTSW 1 194,841,754 (GRCm39) missense probably damaging 1.00
R5574:Cr2 UTSW 1 194,823,544 (GRCm39) missense probably damaging 1.00
R5594:Cr2 UTSW 1 194,839,498 (GRCm39) missense probably damaging 1.00
R5645:Cr2 UTSW 1 194,836,581 (GRCm39) missense probably damaging 1.00
R5700:Cr2 UTSW 1 194,842,065 (GRCm39) missense probably damaging 0.96
R5929:Cr2 UTSW 1 194,853,419 (GRCm39) missense possibly damaging 0.91
R6237:Cr2 UTSW 1 194,839,810 (GRCm39) missense probably damaging 1.00
R6299:Cr2 UTSW 1 194,850,954 (GRCm39) missense probably damaging 1.00
R6368:Cr2 UTSW 1 194,850,780 (GRCm39) missense probably damaging 1.00
R6406:Cr2 UTSW 1 194,852,079 (GRCm39) missense probably damaging 1.00
R6618:Cr2 UTSW 1 194,839,687 (GRCm39) missense probably damaging 0.98
R6684:Cr2 UTSW 1 194,853,329 (GRCm39) nonsense probably null
R6720:Cr2 UTSW 1 194,837,508 (GRCm39) missense probably damaging 0.97
R6866:Cr2 UTSW 1 194,833,999 (GRCm39) missense probably damaging 1.00
R6915:Cr2 UTSW 1 194,853,454 (GRCm39) missense probably benign 0.06
R7057:Cr2 UTSW 1 194,833,918 (GRCm39) missense possibly damaging 0.83
R7117:Cr2 UTSW 1 194,842,909 (GRCm39) missense possibly damaging 0.79
R7200:Cr2 UTSW 1 194,845,557 (GRCm39) missense probably damaging 1.00
R7209:Cr2 UTSW 1 194,851,032 (GRCm39) missense probably damaging 1.00
R7350:Cr2 UTSW 1 194,837,594 (GRCm39) missense probably benign 0.21
R7453:Cr2 UTSW 1 194,847,565 (GRCm39) splice site probably null
R7479:Cr2 UTSW 1 194,840,718 (GRCm39) critical splice donor site probably null
R7480:Cr2 UTSW 1 194,836,484 (GRCm39) missense probably damaging 1.00
R7570:Cr2 UTSW 1 194,851,648 (GRCm39) nonsense probably null
R7666:Cr2 UTSW 1 194,836,533 (GRCm39) missense probably damaging 1.00
R7921:Cr2 UTSW 1 194,833,975 (GRCm39) missense possibly damaging 0.94
R7923:Cr2 UTSW 1 194,850,995 (GRCm39) missense probably benign 0.03
R8396:Cr2 UTSW 1 194,840,376 (GRCm39) missense probably damaging 1.00
R8503:Cr2 UTSW 1 194,845,850 (GRCm39) missense probably benign
R8517:Cr2 UTSW 1 194,838,207 (GRCm39) missense probably benign 0.03
R8773:Cr2 UTSW 1 194,840,913 (GRCm39) missense probably damaging 1.00
R8849:Cr2 UTSW 1 194,839,547 (GRCm39) missense probably damaging 1.00
R8896:Cr2 UTSW 1 194,851,581 (GRCm39) missense possibly damaging 0.58
R8938:Cr2 UTSW 1 194,853,424 (GRCm39) missense probably damaging 0.99
R9027:Cr2 UTSW 1 194,834,029 (GRCm39) missense probably benign 0.08
R9045:Cr2 UTSW 1 194,837,680 (GRCm39) missense possibly damaging 0.61
R9116:Cr2 UTSW 1 194,840,977 (GRCm39) nonsense probably null
R9137:Cr2 UTSW 1 194,850,640 (GRCm39) critical splice donor site probably null
R9476:Cr2 UTSW 1 194,840,416 (GRCm39) missense probably damaging 0.97
R9497:Cr2 UTSW 1 194,850,743 (GRCm39) missense probably damaging 0.99
R9510:Cr2 UTSW 1 194,840,416 (GRCm39) missense probably damaging 0.97
R9752:Cr2 UTSW 1 194,823,575 (GRCm39) missense probably benign 0.37
R9799:Cr2 UTSW 1 194,842,988 (GRCm39) missense probably benign 0.02
X0028:Cr2 UTSW 1 194,832,290 (GRCm39) missense probably benign 0.09
X0066:Cr2 UTSW 1 194,848,629 (GRCm39) missense probably damaging 0.99
Z1176:Cr2 UTSW 1 194,836,461 (GRCm39) missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- AAATGTCTTCCGGTGTTATCATTGG -3'
(R):5'- TGGTGCTGCAAATAAAACATGG -3'

Sequencing Primer
(F):5'- CGATCTGTCCTTTATAACAACAAAGC -3'
(R):5'- GTGCTGCAAATAAAACATGGATTAG -3'
Posted On 2019-10-07