Incidental Mutation 'R5700:Cr2'
ID 450827
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 043328-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R5700 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 195136811-195176716 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 195159757 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 296 (V296A)
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 possibly damaging
Transcript: ENSMUST00000082321
AA Change: V296A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000080938
Gene: ENSMUSG00000026616
AA Change: V296A

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 damaging
Transcript: ENSMUST00000195120
AA Change: V296A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141538
Gene: ENSMUSG00000026616
AA Change: V296A

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 possibly damaging
Transcript: ENSMUST00000210219
AA Change: V672A

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
Meta Mutation Damage Score 0.5846 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (50/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,798,194 (GRCm38) Q155L probably benign Het
Acadvl A C 11: 70,013,203 (GRCm38) Y242D probably damaging Het
Armc8 A G 9: 99,496,149 (GRCm38) probably null Het
Barx2 A T 9: 31,858,765 (GRCm38) F156I probably damaging Het
Best1 T C 19: 9,997,199 (GRCm38) probably benign Het
Btbd8 T C 5: 107,503,648 (GRCm38) S136P possibly damaging Het
Btla T A 16: 45,250,573 (GRCm38) Y298* probably null Het
Casr T A 16: 36,509,617 (GRCm38) I452F probably damaging Het
Ccser1 C A 6: 61,311,276 (GRCm38) P141H probably benign Het
Csl T A 10: 99,759,015 (GRCm38) I63F probably damaging Het
Dbt G A 3: 116,520,303 (GRCm38) V40M probably damaging Het
Fam53b A T 7: 132,760,020 (GRCm38) L93Q probably damaging Het
Fdps T C 3: 89,095,649 (GRCm38) I105V probably damaging Het
Gm4884 A G 7: 41,043,219 (GRCm38) D204G probably benign Het
Gm5592 A G 7: 41,158,579 (GRCm38) probably benign Het
Gm7367 A T 7: 60,155,762 (GRCm38) noncoding transcript Het
Grid2 T A 6: 64,094,432 (GRCm38) V413D possibly damaging Het
Hgf C T 5: 16,610,124 (GRCm38) P471L probably damaging Het
Hoxc9 T C 15: 102,981,881 (GRCm38) Y77H possibly damaging Het
Hs6st3 C T 14: 119,138,787 (GRCm38) R125* probably null Het
Kdm4b T C 17: 56,351,700 (GRCm38) I15T possibly damaging Het
Klhl1 T C 14: 96,518,040 (GRCm38) N93S probably benign Het
Klhl6 G A 16: 19,957,218 (GRCm38) Q197* probably null Het
Medag T C 5: 149,422,217 (GRCm38) V7A probably benign Het
Mptx2 G A 1: 173,274,847 (GRCm38) L92F probably benign Het
Nckap5 C T 1: 125,976,925 (GRCm38) probably null Het
Obscn T C 11: 59,133,194 (GRCm38) K550R probably benign Het
Olfr1369-ps1 T A 13: 21,116,001 (GRCm38) V103E probably damaging Het
Olfr193 T A 16: 59,109,993 (GRCm38) I206F probably damaging Het
Olfr716 A G 7: 107,147,541 (GRCm38) N75S probably benign Het
Olfr8 T C 10: 78,955,484 (GRCm38) I93T probably damaging Het
Parp6 T C 9: 59,624,727 (GRCm38) S101P probably damaging Het
Plcd3 T C 11: 103,073,763 (GRCm38) N594S probably benign Het
Plscr5 A T 9: 92,205,511 (GRCm38) K178* probably null Het
Ppp2r1b T C 9: 50,878,157 (GRCm38) Y443H probably damaging Het
Pqlc2 C T 4: 139,300,254 (GRCm38) S259N probably damaging Het
Prnd G A 2: 131,953,343 (GRCm38) V128I probably benign Het
Rftn1 G T 17: 50,002,669 (GRCm38) P156Q probably damaging Het
Scmh1 T C 4: 120,516,946 (GRCm38) V445A probably benign Het
Serpinb6c A T 13: 33,899,308 (GRCm38) M41K probably damaging Het
Spns1 A G 7: 126,372,469 (GRCm38) V303A possibly damaging Het
Ston1 T A 17: 88,644,339 (GRCm38) S639R probably damaging Het
Thbs4 T C 13: 92,776,953 (GRCm38) D153G probably benign Het
Timm44 T C 8: 4,274,171 (GRCm38) Y36C probably damaging Het
Trim34b G T 7: 104,336,411 (GRCm38) V418F probably damaging Het
Vmn1r72 C T 7: 11,670,423 (GRCm38) V33M probably damaging Het
Zcchc7 T C 4: 44,931,084 (GRCm38) V412A probably benign Het
Zfand1 T A 3: 10,341,019 (GRCm38) N210I probably damaging Het
Zfhx3 A G 8: 108,933,867 (GRCm38) H1251R probably damaging 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
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
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'- TCTTCGGTTGTAAACACAGAACTG -3'
(R):5'- GGGAACTTGACCCAATGTGTATAAAG -3'

Sequencing Primer
(F):5'- TTGTAAACACAGAACTGCAGAAG -3'
(R):5'- ACCCAATGTGTATAAAGAAGATTGTG -3'
Posted On 2017-01-03