Incidental Mutation 'R0605:Cr2'
ID 55621
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 038794-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R0605 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 195136811-195176716 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 195163596 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043104] [ENSMUST00000082321] [ENSMUST00000193356] [ENSMUST00000193801] [ENSMUST00000195120] [ENSMUST00000210219]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000043104
SMART Domains Protein: ENSMUSP00000044261
Gene: ENSMUSG00000026616

DomainStartEndE-ValueType
CCP 2 58 5.04e-7 SMART
CCP 63 120 3.58e-12 SMART
CCP 125 191 1.2e-13 SMART
CCP 197 252 2.73e-17 SMART
CCP 256 311 1.01e-15 SMART
Blast:CCP 316 347 2e-13 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000082321
SMART Domains Protein: ENSMUSP00000080938
Gene: ENSMUSG00000026616

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
SMART Domains Protein: ENSMUSP00000141706
Gene: ENSMUSG00000026616

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 noncoding transcript
Transcript: ENSMUST00000194149
Predicted Effect probably benign
Transcript: ENSMUST00000195120
SMART Domains Protein: ENSMUSP00000141538
Gene: ENSMUSG00000026616

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: ENSMUST00000195347
Predicted Effect probably benign
Transcript: ENSMUST00000210219
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.4%
Validation Efficiency 100% (85/85)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933406P04Rik G A 10: 20,311,227 (GRCm38) probably benign Het
Adam28 A T 14: 68,606,600 (GRCm38) probably benign Het
Adamts3 A G 5: 89,861,475 (GRCm38) W110R possibly damaging Het
Add1 T C 5: 34,614,224 (GRCm38) V342A possibly damaging Het
Aff3 A G 1: 38,209,987 (GRCm38) S680P probably damaging Het
Ak9 T C 10: 41,345,139 (GRCm38) Y322H probably damaging Het
Als2 A G 1: 59,168,414 (GRCm38) L1528S probably benign Het
Ass1 A T 2: 31,514,819 (GRCm38) N371Y probably damaging Het
Atp6v1a A C 16: 44,111,496 (GRCm38) probably null Het
Bpi T C 2: 158,261,394 (GRCm38) L103P probably damaging Het
Cd80 G A 16: 38,482,694 (GRCm38) V168I probably benign Het
Cfh T C 1: 140,102,358 (GRCm38) S926G probably damaging Het
Chrd A T 16: 20,735,439 (GRCm38) T304S probably damaging Het
Chsy3 A G 18: 59,409,053 (GRCm38) Y421C probably damaging Het
Cmbl T G 15: 31,585,309 (GRCm38) V101G probably damaging Het
Colgalt2 T A 1: 152,495,792 (GRCm38) probably benign Het
Coq4 C T 2: 29,789,998 (GRCm38) Q101* probably null Het
Cry1 T C 10: 85,184,359 (GRCm38) D38G probably damaging Het
Dmxl2 T C 9: 54,419,945 (GRCm38) D758G probably benign Het
Epsti1 C T 14: 77,927,237 (GRCm38) probably benign Het
Fam24b T C 7: 131,327,186 (GRCm38) probably benign Het
Fem1c G A 18: 46,505,160 (GRCm38) R592C probably benign Het
Foxred1 T C 9: 35,204,882 (GRCm38) Y490C possibly damaging Het
Gm14124 A G 2: 150,268,603 (GRCm38) I404M unknown Het
Gm9875 A G 2: 13,557,888 (GRCm38) K9R unknown Het
Grid2ip T C 5: 143,379,362 (GRCm38) S322P probably damaging Het
Gucy1b2 A G 14: 62,403,159 (GRCm38) probably benign Het
Hmcn1 A T 1: 150,657,376 (GRCm38) probably null Het
Hpdl C T 4: 116,820,787 (GRCm38) S159N possibly damaging Het
Hsd17b12 A T 2: 94,033,642 (GRCm38) M285K probably benign Het
Icam5 T C 9: 21,032,197 (GRCm38) I23T probably benign Het
Kat5 A G 19: 5,608,336 (GRCm38) probably benign Het
Lama3 A G 18: 12,506,949 (GRCm38) N67S probably benign Het
Lamb2 T C 9: 108,486,105 (GRCm38) probably benign Het
Lgals3bp A G 11: 118,393,394 (GRCm38) F453S probably damaging Het
Lypd4 A G 7: 24,865,375 (GRCm38) Y113H probably damaging Het
Mdm1 C T 10: 118,146,601 (GRCm38) T47M probably damaging Het
Mei1 C A 15: 82,070,150 (GRCm38) T52K probably benign Het
Meiob G A 17: 24,818,262 (GRCm38) probably benign Het
Ndufaf6 A G 4: 11,051,224 (GRCm38) V292A probably damaging Het
Neb T A 2: 52,264,026 (GRCm38) M2358L possibly damaging Het
Nlrp1b A G 11: 71,156,179 (GRCm38) S1119P possibly damaging Het
Nsmaf A G 4: 6,418,470 (GRCm38) probably null Het
Ogfod1 T C 8: 94,047,267 (GRCm38) probably benign Het
Olfr1097 T C 2: 86,890,419 (GRCm38) Y252C possibly damaging Het
Olfr1410 G T 1: 92,607,896 (GRCm38) V20L probably benign Het
Olfr291 T C 7: 84,857,137 (GRCm38) I256T probably damaging Het
Osbpl1a T A 18: 12,882,279 (GRCm38) probably null Het
Otud7b T A 3: 96,144,959 (GRCm38) probably benign Het
P3h3 T A 6: 124,856,035 (GRCm38) H185L probably damaging Het
P4htm G A 9: 108,583,724 (GRCm38) A183V probably null Het
Peak1 C T 9: 56,227,098 (GRCm38) probably benign Het
Phf20l1 A G 15: 66,595,122 (GRCm38) K88R probably damaging Het
Phlpp2 A G 8: 109,933,211 (GRCm38) N721S probably benign Het
Plagl2 T C 2: 153,235,944 (GRCm38) K39R probably benign Het
Plppr1 A T 4: 49,323,466 (GRCm38) N252I probably damaging Het
Pom121l2 C T 13: 21,982,036 (GRCm38) A159V probably damaging Het
Prom2 C A 2: 127,539,995 (GRCm38) probably null Het
Prrc2c T C 1: 162,682,426 (GRCm38) T1017A probably damaging Het
Rimbp3 G T 16: 17,211,699 (GRCm38) A996S probably damaging Het
Rnf213 A G 11: 119,431,717 (GRCm38) T1387A probably benign Het
Scaper A T 9: 55,815,518 (GRCm38) probably benign Het
Scara5 A G 14: 65,759,648 (GRCm38) E403G possibly damaging Het
Scrib T C 15: 76,067,553 (GRCm38) I94V possibly damaging Het
Shank3 T C 15: 89,524,147 (GRCm38) F67L possibly damaging Het
Shprh T C 10: 11,207,112 (GRCm38) F1562L probably damaging Het
Src C T 2: 157,469,921 (GRCm38) T529M probably damaging Het
Sycp2l T A 13: 41,143,466 (GRCm38) M341K probably benign Het
Syde1 T C 10: 78,589,095 (GRCm38) probably benign Het
Tarsl2 A T 7: 65,678,071 (GRCm38) R509S probably damaging Het
Tle6 T A 10: 81,594,346 (GRCm38) H324L probably damaging Het
Tnfaip8 ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 18: 50,046,845 (GRCm38) probably benign Het
Tnfrsf14 T A 4: 154,925,380 (GRCm38) K115* probably null Het
Trappc10 T C 10: 78,201,497 (GRCm38) N824S possibly damaging Het
Tsc1 C T 2: 28,671,778 (GRCm38) S309F probably damaging Het
Ttc21a A G 9: 119,961,842 (GRCm38) I885V possibly damaging Het
Ttn T C 2: 76,948,371 (GRCm38) Y1262C unknown Het
Ttn C T 2: 76,740,453 (GRCm38) A26699T probably damaging Het
Usp49 T C 17: 47,674,926 (GRCm38) probably null Het
Vmn1r226 A T 17: 20,687,871 (GRCm38) T122S probably benign Het
Vps8 A T 16: 21,559,337 (GRCm38) T1033S probably benign Het
Vwf C A 6: 125,685,837 (GRCm38) T2728K probably benign Het
Wdr5b T C 16: 36,041,996 (GRCm38) S162P probably benign Het
Xrn1 C T 9: 96,026,877 (GRCm38) Q1235* probably null 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
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
R1824:Cr2 UTSW 1 195,157,316 (GRCm38) missense probably damaging 1.00
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'- ATAGGAGGAGCTTTATCCCAGGTGG -3'
(R):5'- TGTGTGTTTCCAACAGGCACTGAG -3'

Sequencing Primer
(F):5'- CTTTTCTCCAATGAGGCGGT -3'
(R):5'- ctgaggctgaaggaggatac -3'
Posted On 2013-07-11