Incidental Mutation 'R8896:Cr2'
ID 678002
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 068698-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # R8896 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 194819119-194859024 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 194851581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 137 (M137K)
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 probably benign
Transcript: ENSMUST00000043104
AA Change: M117K

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000044261
Gene: ENSMUSG00000026616
AA Change: M117K

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 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 possibly damaging
Transcript: ENSMUST00000210219
AA Change: M137K

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (73/73)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox4 T G 1: 58,291,233 (GRCm39) S784A probably benign Het
Ap3d1 T A 10: 80,552,425 (GRCm39) H581L probably benign Het
Atp11a T C 8: 12,899,781 (GRCm39) Y915H probably damaging Het
Atp4b T C 8: 13,437,514 (GRCm39) D213G probably benign Het
Bcl11a A G 11: 24,113,640 (GRCm39) S328G probably benign Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Cadps2 T A 6: 23,410,876 (GRCm39) Y685F probably damaging Het
Ccdc88b C T 19: 6,831,203 (GRCm39) A580T probably benign Het
Cdc42bpa GACAACA GACA 1: 179,958,373 (GRCm39) probably benign Het
Cep152 A T 2: 125,408,155 (GRCm39) V1396D possibly damaging Het
Ces1c T C 8: 93,833,254 (GRCm39) I404V probably benign Het
Cyp2d40 T C 15: 82,644,454 (GRCm39) Y257C unknown Het
Dennd1c T A 17: 57,381,512 (GRCm39) D116V probably damaging Het
Dph2 G A 4: 117,747,575 (GRCm39) R270* probably null Het
Dpp8 A C 9: 64,985,318 (GRCm39) H792P possibly damaging Het
Dusp29 T C 14: 21,736,763 (GRCm39) D113G probably benign Het
Efs T C 14: 55,157,756 (GRCm39) E185G possibly damaging Het
Eml3 A G 19: 8,914,056 (GRCm39) E480G probably damaging Het
Fam193a A G 5: 34,583,828 (GRCm39) T336A probably benign Het
Fermt1 C T 2: 132,783,852 (GRCm39) probably benign Het
Galnt4 T A 10: 98,945,955 (GRCm39) V560D probably damaging Het
Gbp2b C A 3: 142,309,327 (GRCm39) T146K probably damaging Het
Gbp5 C T 3: 142,211,308 (GRCm39) T346I probably damaging Het
Glrx G T 13: 75,995,317 (GRCm39) C79F probably damaging Het
Glt8d2 T A 10: 82,490,616 (GRCm39) T225S probably damaging Het
Grm3 A G 5: 9,562,483 (GRCm39) F456L possibly damaging Het
Gse1 T G 8: 121,303,185 (GRCm39) S1109A unknown Het
Gstp3 A T 19: 4,108,573 (GRCm39) L63Q probably damaging Het
Hapln3 G A 7: 78,767,239 (GRCm39) R267W probably benign Het
Herc4 T A 10: 63,147,286 (GRCm39) I801N possibly damaging Het
Ido1 G T 8: 25,077,880 (GRCm39) D153E probably benign Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kcnj9 T A 1: 172,153,360 (GRCm39) S255C probably damaging Het
Kpna3 T C 14: 61,629,294 (GRCm39) N39D probably benign Het
Krt39 A T 11: 99,409,095 (GRCm39) S269T probably damaging Het
Lfng G A 5: 140,598,978 (GRCm39) V296I probably benign Het
Lrit3 T A 3: 129,585,132 (GRCm39) I209F probably damaging Het
Map4k5 T A 12: 69,870,275 (GRCm39) D523V possibly damaging Het
Mdn1 C T 4: 32,678,328 (GRCm39) P652L probably benign Het
Med30 G A 15: 52,584,516 (GRCm39) V145I possibly damaging Het
Megf6 T A 4: 154,326,860 (GRCm39) D163E probably damaging Het
Meltf T A 16: 31,709,522 (GRCm39) probably benign Het
Mindy4 T C 6: 55,255,223 (GRCm39) L567P probably benign Het
Mppe1 T C 18: 67,370,472 (GRCm39) D75G probably damaging Het
Muc4 C T 16: 32,754,673 (GRCm38) P1516S probably benign Het
Myo3b C A 2: 70,069,160 (GRCm39) F494L probably damaging Het
Nedd4l A G 18: 65,298,688 (GRCm39) T226A probably benign Het
Nod1 A G 6: 54,921,277 (GRCm39) V347A probably benign Het
Nup210 A T 6: 91,019,235 (GRCm39) probably null Het
Nup210l A G 3: 90,025,932 (GRCm39) R185G probably damaging Het
Oma1 T C 4: 103,210,829 (GRCm39) L445S probably damaging Het
Or13p10 A T 4: 118,523,502 (GRCm39) M263L probably benign Het
Or5ac20 A T 16: 59,104,452 (GRCm39) M136K probably damaging Het
Or8g36 A G 9: 39,422,770 (GRCm39) L82P probably damaging Het
Oxsm A T 14: 16,242,677 (GRCm38) F31I probably benign Het
Pdcd5 A T 7: 35,346,795 (GRCm39) M1K probably null Het
Pkd1l2 T C 8: 117,740,615 (GRCm39) T2161A possibly damaging Het
Pla2g3 A T 11: 3,442,151 (GRCm39) S404C probably null Het
Plec A G 15: 76,078,560 (GRCm39) V60A unknown Het
Prpsap2 A G 11: 61,643,736 (GRCm39) S66P possibly damaging Het
Rarb A G 14: 16,436,804 (GRCm38) L239P probably damaging Het
Ryr3 A T 2: 112,583,395 (GRCm39) Y2845* probably null Het
Spta1 T C 1: 174,045,548 (GRCm39) C1569R probably damaging Het
Stard13 G A 5: 150,986,115 (GRCm39) S465L probably damaging Het
Tmub1 A T 5: 24,651,680 (GRCm39) S80T probably benign Het
Trpv5 A G 6: 41,647,847 (GRCm39) F322S probably damaging Het
Vmn2r5 G A 3: 64,411,203 (GRCm39) A455V probably benign Het
Washc4 T A 10: 83,405,882 (GRCm39) N459K probably damaging Het
Wdr11 C T 7: 129,207,437 (GRCm39) R300* probably null Het
Zer1 A G 2: 29,993,430 (GRCm39) F559L probably damaging Het
Zfat A T 15: 68,052,519 (GRCm39) V425D probably damaging Het
Zfp738 G A 13: 67,817,910 (GRCm39) L694F Het
Zfp839 C T 12: 110,835,277 (GRCm39) A844V probably 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
R7414:Cr2 UTSW 1 194,832,344 (GRCm39) missense probably benign
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
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'- GGCTTCTTGGGGTGAACTAC -3'
(R):5'- CCAGTGCTATTAACTAGGAAGTCAGG -3'

Sequencing Primer
(F):5'- GGGTGAACTACTTTTGAATGGTTAC -3'
(R):5'- GGATATGATGAGTCACCTCT -3'
Posted On 2021-08-02