Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00587:Cr2'

7286

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 #

IGL00587

Quality Score

Status

Chromosome

Chromosomal Location

195136811-195176716 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 195154251 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 868 (R868Q)

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: R868Q

PolyPhen 2 Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000080938
Gene: ENSMUSG00000026616
AA Change: R868Q

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

noncoding transcript
Transcript: ENSMUST00000192604

Predicted Effect

probably benign
Transcript: ENSMUST00000193356
AA Change: R571Q

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141706
Gene: ENSMUSG00000026616
AA Change: R571Q

Domain	Start	End	E-Value	Type
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: ENSMUST00000193436

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

possibly damaging
Transcript: ENSMUST00000195120
AA Change: R868Q

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000141538
Gene: ENSMUSG00000026616
AA Change: R868Q

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: ENSMUST00000195737

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210219
AA Change: R1244Q

PolyPhen 2 Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amigo2	A	C	15: 97,245,446 (GRCm38)	M365R	possibly damaging	Het
Atat1	T	C	17: 35,897,883 (GRCm38)	D352G	probably benign	Het
Bbs12	A	G	3: 37,320,197 (GRCm38)	T265A	probably damaging	Het
Cd300c	A	T	11: 114,959,790 (GRCm38)	N62K	probably benign	Het
Cdk5rap3	A	G	11: 96,913,399 (GRCm38)	S43P	probably damaging	Het
Chchd6	A	T	6: 89,569,417 (GRCm38)		probably null	Het
Cyp2d9	T	C	15: 82,455,143 (GRCm38)	S126P	possibly damaging	Het
Dsg3	T	A	18: 20,539,654 (GRCm38)	I794N	probably damaging	Het
Fga	A	T	3: 83,030,289 (GRCm38)	S158C	possibly damaging	Het
Gm14240	T	C	2: 156,052,950 (GRCm38)		probably null	Het
Itga1	C	A	13: 115,012,249 (GRCm38)	V279L	probably damaging	Het
Kdm1b	T	C	13: 47,068,540 (GRCm38)	V485A	probably benign	Het
Mfap3l	T	C	8: 60,671,909 (GRCm38)	V395A	probably benign	Het
Nlrp14	T	A	7: 107,181,767 (GRCm38)	V57E	probably benign	Het
P2ry12	A	T	3: 59,217,882 (GRCm38)	I124K	probably damaging	Het
Paxip1	A	G	5: 27,772,552 (GRCm38)		probably benign	Het
Prkdc	T	C	16: 15,652,358 (GRCm38)		probably benign	Het
Rab28	T	C	5: 41,703,456 (GRCm38)	R52G	probably benign	Het
Rrp15	T	C	1: 186,721,548 (GRCm38)		probably null	Het
Sel1l2	G	A	2: 140,243,944 (GRCm38)	L539F	possibly damaging	Het
Ticam2	T	C	18: 46,560,813 (GRCm38)	E69G	probably benign	Het
Zcchc2	T	A	1: 106,030,263 (GRCm38)	S821R	probably benign	Het
Zcchc4	T	A	5: 52,816,169 (GRCm38)	S379T	probably benign	Het
Zfp53	T	C	17: 21,508,338 (GRCm38)	V211A	probably benign	Het
Zmym2	T	G	14: 56,903,360 (GRCm38)	S219A	possibly damaging	Het

Other mutations in Cr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-04-20