Mutagenetix > Incidental Mutation

Incidental Mutation 'R6618:Cr2'

524191

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

044741-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R6618 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

194819119-194859024 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 194839687 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 580 (D580G)

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: D580G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080938
Gene: ENSMUSG00000026616
AA Change: D580G

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

possibly damaging
Transcript: ENSMUST00000193356
AA Change: D283G

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141706
Gene: ENSMUSG00000026616
AA Change: D283G

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: ENSMUST00000193801

SMART Domains

Protein: ENSMUSP00000141276
Gene: ENSMUSG00000026616

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000195120
AA Change: D580G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141538
Gene: ENSMUSG00000026616
AA Change: D580G

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

probably benign
Transcript: ENSMUST00000210219
AA Change: D956G

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.4%

Validation Efficiency

100% (37/37)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp1b2	T	C	11: 69,494,289 (GRCm39)	D68G	probably damaging	Het
Barx2	G	A	9: 31,758,168 (GRCm39)	L257F	probably benign	Het
Bbx	C	G	16: 50,086,626 (GRCm39)	W90S	probably damaging	Het
Bmp1	T	A	14: 70,728,808 (GRCm39)	D588V	probably damaging	Het
Caskin2	C	T	11: 115,690,855 (GRCm39)	M1188I	possibly damaging	Het
Ccdc180	T	A	4: 45,950,708 (GRCm39)	I1651N	probably damaging	Het
Cimip2a	C	A	2: 25,110,635 (GRCm39)	L148M	probably benign	Het
Crebbp	C	T	16: 3,937,670 (GRCm39)	A698T	possibly damaging	Het
Fam204a	T	C	19: 60,209,069 (GRCm39)		probably null	Het
Fam83h	T	C	15: 75,875,360 (GRCm39)	D659G	probably damaging	Het
Garin3	A	G	11: 46,298,126 (GRCm39)	T477A	probably damaging	Het
Hells	G	T	19: 38,945,528 (GRCm39)	R589L	probably benign	Het
Helz	A	G	11: 107,489,976 (GRCm39)	T144A	probably benign	Het
Il1r1	T	A	1: 40,339,971 (GRCm39)	V258D	probably damaging	Het
Isoc2a	A	T	7: 4,898,325 (GRCm39)	I183F	probably benign	Het
Kat2a	G	T	11: 100,603,196 (GRCm39)		probably benign	Het
Klf9	A	G	19: 23,142,235 (GRCm39)	M232V	probably benign	Het
Lars1	G	T	18: 42,377,973 (GRCm39)	S147R	possibly damaging	Het
Mkrn3	A	G	7: 62,068,781 (GRCm39)	F337L	probably benign	Het
Mrc2	A	T	11: 105,240,708 (GRCm39)	N1466I	probably damaging	Het
Myo5c	G	A	9: 75,182,919 (GRCm39)		probably null	Het
Pigs	T	C	11: 78,232,056 (GRCm39)	L396P	probably damaging	Het
Prkcb	G	A	7: 122,226,886 (GRCm39)	R624Q	probably benign	Het
R3hdm1	T	C	1: 128,121,302 (GRCm39)	S269P	probably benign	Het
Racgap1	A	T	15: 99,521,875 (GRCm39)	I505K	probably damaging	Het
Ralgds	T	A	2: 28,440,523 (GRCm39)	D777E	probably benign	Het
Rdh14	A	G	12: 10,445,123 (GRCm39)	I325V	probably benign	Het
Rpn2	T	A	2: 157,163,781 (GRCm39)	H624Q	probably benign	Het
Scarb1	C	T	5: 125,381,394 (GRCm39)	S50N	probably damaging	Het
Shmt1	T	C	11: 60,683,772 (GRCm39)		probably null	Het
Slc49a3	G	T	5: 108,590,964 (GRCm39)	T400K	probably benign	Het
Smim24	A	G	10: 81,229,966 (GRCm39)	N27S	possibly damaging	Het
Snx13	A	G	12: 35,162,444 (GRCm39)	D550G	probably damaging	Het
Tnfsf18	T	A	1: 161,322,349 (GRCm39)	L23*	probably null	Het
Trpc3	T	A	3: 36,694,844 (GRCm39)	K703N	possibly damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Zfy2	A	G	Y: 2,121,477 (GRCm39)	S139P	probably benign	Homo

Other mutations in Cr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R8896:Cr2	UTSW	1	194,851,581 (GRCm39)	missense	possibly damaging	0.58
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'- GGATCTGACTGCTTCCACTC -3'
(R):5'- ACTTCAAACCCTTGGTCAGATG -3'

Sequencing Primer
(F):5'- TGACTGCTTCCACTCAAAATATATCC -3'
(R):5'- AACCCTTGGTCAGATGTCTACAG -3'

Posted On

2018-06-22