Incidental Mutation 'R0130:Cr2'
ID 50092
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 038415-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R0130 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 1
Chromosomal Location 195136811-195176716 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 195166231 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 328 (V328D)
Ref Sequence ENSEMBL: ENSMUSP00000147804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043104] [ENSMUST00000082321] [ENSMUST00000193801] [ENSMUST00000195120] [ENSMUST00000210219]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000043104
AA Change: V308D

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000044261
Gene: ENSMUSG00000026616
AA Change: V308D

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: 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 noncoding transcript
Transcript: ENSMUST00000195722
Predicted Effect probably damaging
Transcript: ENSMUST00000210219
AA Change: V328D

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.7%
  • 10x: 93.4%
  • 20x: 80.2%
Validation Efficiency 99% (84/85)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 A T 17: 84,686,666 (GRCm38) Y37F probably damaging Het
Ablim2 G A 5: 35,809,176 (GRCm38) probably benign Het
Anxa9 A G 3: 95,302,422 (GRCm38) S129P probably benign Het
Apol7c A G 15: 77,526,362 (GRCm38) I128T possibly damaging Het
Arfgef2 T G 2: 166,835,719 (GRCm38) I88S probably damaging Het
Arfip2 A G 7: 105,638,998 (GRCm38) probably benign Het
Atp5j2 A T 5: 145,188,182 (GRCm38) probably benign Het
Atp7b C T 8: 22,028,172 (GRCm38) E205K possibly damaging Het
Atp8b5 T A 4: 43,369,715 (GRCm38) probably null Het
Cd22 A G 7: 30,869,964 (GRCm38) Y402H possibly damaging Het
Cd248 A G 19: 5,069,962 (GRCm38) T613A probably benign Het
Cdcp2 C T 4: 107,106,707 (GRCm38) probably benign Het
Cenpc1 A T 5: 86,046,546 (GRCm38) D120E probably benign Het
Chd3 T A 11: 69,359,830 (GRCm38) H691L probably damaging Het
Colec12 C T 18: 9,858,921 (GRCm38) P568L unknown Het
Cped1 T A 6: 22,121,039 (GRCm38) Y373N probably benign Het
Ctnnd2 A T 15: 30,921,913 (GRCm38) E895V probably damaging Het
D630045J12Rik A T 6: 38,149,771 (GRCm38) probably benign Het
Dcdc2a A T 13: 25,187,672 (GRCm38) probably benign Het
Dync1h1 C A 12: 110,618,674 (GRCm38) T837K probably benign Het
Eif2ak3 C A 6: 70,881,732 (GRCm38) probably benign Het
Epb41l5 A C 1: 119,549,902 (GRCm38) V705G possibly damaging Het
Fat2 T A 11: 55,252,118 (GRCm38) M4302L probably benign Het
Flnb T C 14: 7,901,951 (GRCm38) V938A probably damaging Het
Frmd4a T C 2: 4,604,092 (GRCm38) Y928H probably damaging Het
Fyn C T 10: 39,511,982 (GRCm38) T78M probably benign Het
Gdap2 A G 3: 100,201,995 (GRCm38) T443A probably damaging Het
Gde1 A T 7: 118,695,060 (GRCm38) F63L probably benign Het
Gjc3 A G 5: 137,957,940 (GRCm38) S28P probably benign Het
Gm10250 G A 15: 5,120,991 (GRCm38) probably null Het
Gm1141 T C X: 71,939,555 (GRCm38) C378R possibly damaging Het
Hp1bp3 C T 4: 138,237,209 (GRCm38) S348F probably damaging Het
Klhl23 T C 2: 69,833,966 (GRCm38) V553A probably damaging Het
Lman2l G T 1: 36,424,864 (GRCm38) S171* probably null Het
Lrp1b T C 2: 41,511,508 (GRCm38) D378G probably damaging Het
Map3k11 T C 19: 5,690,815 (GRCm38) L190P probably damaging Het
Mki67 T A 7: 135,696,459 (GRCm38) Q2282L probably damaging Het
Mthfd2 T A 6: 83,309,008 (GRCm38) I272F probably damaging Het
Myom1 A T 17: 71,045,755 (GRCm38) D358V probably damaging Het
Nebl T A 2: 17,393,023 (GRCm38) Q487H possibly damaging Het
Nebl T C 2: 17,390,926 (GRCm38) probably benign Het
Nlrp2 T A 7: 5,322,418 (GRCm38) N14Y possibly damaging Het
Olfr1090 T C 2: 86,753,887 (GRCm38) M284V probably benign Het
Olfr304 T C 7: 86,386,306 (GRCm38) Y118C probably damaging Het
Olfr339 T A 2: 36,422,287 (GRCm38) D296E probably benign Het
Olfr372 C T 8: 72,058,400 (GRCm38) T240M probably damaging Het
Olfr992 T A 2: 85,399,961 (GRCm38) S191C probably damaging Het
Paxip1 C T 5: 27,744,185 (GRCm38) probably benign Het
Pclo A G 5: 14,679,797 (GRCm38) probably benign Het
Pld2 T G 11: 70,554,348 (GRCm38) N591K probably benign Het
Plekha7 A G 7: 116,170,704 (GRCm38) M276T probably damaging Het
Prss39 T A 1: 34,502,200 (GRCm38) probably benign Het
Prtg A G 9: 72,809,716 (GRCm38) Y113C probably damaging Het
Rab38 T A 7: 88,450,541 (GRCm38) I88N probably damaging Het
Rbfox2 A G 15: 77,091,857 (GRCm38) probably benign Het
Samd5 A G 10: 9,674,939 (GRCm38) W9R probably damaging Het
Sec14l1 A T 11: 117,156,407 (GRCm38) K637I possibly damaging Het
Sh2b1 A T 7: 126,471,448 (GRCm38) D360E possibly damaging Het
Sh3bp4 A G 1: 89,145,314 (GRCm38) N628S possibly damaging Het
Sim1 A T 10: 50,907,961 (GRCm38) I104F probably damaging Het
Smcp T A 3: 92,584,520 (GRCm38) T7S unknown Het
Sp4 A G 12: 118,300,816 (GRCm38) probably benign Het
Tectb G T 19: 55,181,961 (GRCm38) K81N probably damaging Het
Thbs4 G T 13: 92,754,410 (GRCm38) H850N probably benign Het
Tiam1 T C 16: 89,897,754 (GRCm38) M272V probably benign Het
Trav13-3 T A 14: 53,729,776 (GRCm38) noncoding transcript Het
Ubap2l A T 3: 90,021,373 (GRCm38) S478T possibly damaging Het
Vmn2r85 A G 10: 130,419,185 (GRCm38) 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
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
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'- GCTTGCACATGAAGAGTCAGGAAACTG -3'
(R):5'- TGGCCTTCCAAAGTGTGACACATTG -3'

Sequencing Primer
(F):5'- actgctccctctccacc -3'
(R):5'- CATTGGAGAAGGATACATTAATCCC -3'
Posted On 2013-06-12