Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03346:Cr2'

417433

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cr2

Ensembl Gene

ENSMUSG00000026616

Gene Name

complement receptor 2

Synonyms

C3DR, CD21, Cr-1, Cr1, CD35, Cr-2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

IGL03346

Quality Score

Status

Chromosome

Chromosomal Location

195136811-195176716 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 195169759 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 94 (V94E)

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 damaging
Transcript: ENSMUST00000043104
AA Change: V74E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044261
Gene: ENSMUSG00000026616
AA Change: V74E

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: V94E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

Validation Efficiency

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a5	C	T	16: 29,314,604 (GRCm38)	V410M	probably benign	Het
Cdkn2aip	G	T	8: 47,713,618 (GRCm38)	D51E	probably benign	Het
Chd6	A	G	2: 160,960,362 (GRCm38)	V2184A	probably benign	Het
Clcn1	C	T	6: 42,311,219 (GRCm38)	T797I	probably benign	Het
Cldn23	G	A	8: 35,825,440 (GRCm38)		probably benign	Het
Cntnap4	A	G	8: 112,773,576 (GRCm38)	D500G	probably benign	Het
Cog5	A	T	12: 31,894,038 (GRCm38)	I641F	possibly damaging	Het
Creg2	T	G	1: 39,650,747 (GRCm38)	D65A	probably damaging	Het
Dennd4a	A	G	9: 64,888,526 (GRCm38)	R711G	possibly damaging	Het
Efr3b	A	G	12: 3,984,648 (GRCm38)	V58A	probably damaging	Het
Fbxo3	A	G	2: 104,050,294 (GRCm38)	T250A	probably damaging	Het
Fzr1	T	C	10: 81,369,184 (GRCm38)	T300A	probably benign	Het
Gabrg1	A	T	5: 70,778,131 (GRCm38)	Y227N	possibly damaging	Het
Gins3	A	G	8: 95,643,275 (GRCm38)	I197V	probably benign	Het
Gm17079	T	C	14: 51,692,963 (GRCm38)	T142A	possibly damaging	Het
Gm8909	C	A	17: 36,168,109 (GRCm38)	D83Y	probably damaging	Het
Gna15	T	C	10: 81,503,045 (GRCm38)	Y320C	probably damaging	Het
Hibch	G	A	1: 52,920,380 (GRCm38)		probably benign	Het
Kif5b	G	A	18: 6,222,767 (GRCm38)	R355W	probably damaging	Het
Klf1	T	C	8: 84,902,932 (GRCm38)	S129P	probably benign	Het
Lyl1	C	T	8: 84,702,671 (GRCm38)	P3L	possibly damaging	Het
Nat8f5	A	G	6: 85,817,658 (GRCm38)	S107P	probably damaging	Het
Olfr331	A	G	11: 58,501,755 (GRCm38)	L267P	possibly damaging	Het
Olfr938	T	A	9: 39,077,962 (GRCm38)	Q261L	probably damaging	Het
Olfr938	C	A	9: 39,077,961 (GRCm38)	Q261H	probably benign	Het
Pcdhb18	G	A	18: 37,489,621 (GRCm38)	M1I	probably null	Het
Plcb3	A	G	19: 6,955,052 (GRCm38)	F1080L	probably benign	Het
Polr2g	T	C	19: 8,798,305 (GRCm38)	H14R	probably damaging	Het
Rp1l1	A	G	14: 64,029,440 (GRCm38)	D825G	probably benign	Het
Scn3a	G	A	2: 65,536,672 (GRCm38)	A2V	probably damaging	Het
Slc25a54	T	C	3: 109,085,730 (GRCm38)		probably benign	Het
Smad9	C	A	3: 54,789,215 (GRCm38)	Q234K	probably benign	Het
Tie1	T	C	4: 118,472,828 (GRCm38)	Y1066C	probably damaging	Het
Traf1	T	C	2: 34,948,472 (GRCm38)	E118G	probably benign	Het
Ttc21b	T	C	2: 66,237,848 (GRCm38)	D278G	possibly damaging	Het
Uaca	C	A	9: 60,854,318 (GRCm38)	T204K	probably damaging	Het
Utrn	A	T	10: 12,525,352 (GRCm38)	Y154N	probably benign	Het
Virma	A	G	4: 11,518,984 (GRCm38)	T694A	probably benign	Het
Vmn2r50	T	C	7: 10,046,002 (GRCm38)	D500G	probably damaging	Het
Vmn2r59	T	A	7: 42,043,829 (GRCm38)	H449L	probably benign	Het

Other mutations in Cr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2016-08-02