Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01810:Cr2'

155809

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cr2

Ensembl Gene

ENSMUSG00000026616

Gene Name

complement receptor 2

Synonyms

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

IGL01810

Quality Score

Status

Chromosome

Chromosomal Location

194819119-194859024 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 194841903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 726 (V726A)

Ref Sequence

ENSEMBL: ENSMUSP00000147804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082321] [ENSMUST00000193356] [ENSMUST00000193801] [ENSMUST00000195120] [ENSMUST00000210219]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000082321
AA Change: V350A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000080938
Gene: ENSMUSG00000026616
AA Change: V350A

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: ENSMUST00000193356
AA Change: V53A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000141706
Gene: ENSMUSG00000026616
AA Change: V53A

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

noncoding transcript
Transcript: ENSMUST00000194149

Predicted Effect

probably benign
Transcript: ENSMUST00000195120
AA Change: V350A

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000141538
Gene: ENSMUSG00000026616
AA Change: V350A

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

possibly damaging
Transcript: ENSMUST00000210219
AA Change: V726A

PolyPhen 2 Score 0.494 (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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	G	T	11: 101,308,185 (GRCm39)	Y10*	probably null	Het
Aass	C	A	6: 23,107,633 (GRCm39)	Q383H	probably damaging	Het
Bag1	T	C	4: 40,936,657 (GRCm39)	D333G	probably damaging	Het
Cap2	A	G	13: 46,793,425 (GRCm39)		probably benign	Het
Col27a1	G	T	4: 63,143,868 (GRCm39)	A519S	probably benign	Het
Csmd2	A	G	4: 128,374,638 (GRCm39)		probably benign	Het
Dennd4c	A	G	4: 86,717,788 (GRCm39)	D595G	possibly damaging	Het
Ercc2	G	T	7: 19,127,374 (GRCm39)	R340L	probably damaging	Het
Espl1	A	G	15: 102,206,640 (GRCm39)	T35A	probably benign	Het
Fndc3a	A	G	14: 72,803,581 (GRCm39)	Y525H	probably benign	Het
Gm4922	T	C	10: 18,659,795 (GRCm39)	Q309R	probably benign	Het
Gm5263	T	C	1: 146,296,292 (GRCm39)		noncoding transcript	Het
Gm6563	A	C	19: 23,653,751 (GRCm39)	R180S	probably damaging	Het
Gpr182	C	A	10: 127,586,733 (GRCm39)	V73F	probably damaging	Het
Gramd1b	C	T	9: 40,227,069 (GRCm39)	R179H	probably damaging	Het
Hk1	C	T	10: 62,188,884 (GRCm39)	A10T	probably benign	Het
Hmgn3	C	A	9: 82,992,437 (GRCm39)		probably benign	Het
Il1b	C	T	2: 129,211,649 (GRCm39)	E24K	probably damaging	Het
Itgb6	G	T	2: 60,458,329 (GRCm39)	Q475K	probably benign	Het
Lrrc74b	A	G	16: 17,363,422 (GRCm39)	S368P	probably benign	Het
Mfsd2b	T	C	12: 4,916,469 (GRCm39)	T234A	possibly damaging	Het
Muc6	A	T	7: 141,237,327 (GRCm39)	Y270N	probably damaging	Het
Naip6	A	G	13: 100,424,603 (GRCm39)		probably benign	Het
Or4b13	A	T	2: 90,082,476 (GRCm39)	Y285*	probably null	Het
Pear1	G	A	3: 87,659,608 (GRCm39)	T742I	probably damaging	Het
Peli2	G	A	14: 48,493,491 (GRCm39)	V238I	probably benign	Het
Pira2	A	G	7: 3,847,611 (GRCm39)	L26P	probably damaging	Het
Pot1b	A	G	17: 55,969,521 (GRCm39)	V549A	possibly damaging	Het
Prdm16	T	C	4: 154,432,384 (GRCm39)	Y295C	probably benign	Het
Ptprd	A	T	4: 76,058,744 (GRCm39)		probably benign	Het
Rap1gap	A	T	4: 137,443,466 (GRCm39)	M145L	probably benign	Het
Setd7	A	T	3: 51,440,388 (GRCm39)		probably benign	Het
Ssx2ip	T	C	3: 146,133,765 (GRCm39)	I258T	probably benign	Het
Stard9	T	C	2: 120,529,565 (GRCm39)	Y1941H	possibly damaging	Het
Stxbp3	T	C	3: 108,707,468 (GRCm39)	E420G	probably benign	Het
Tpra1	T	C	6: 88,886,324 (GRCm39)	V101A	probably damaging	Het
Tpx2	G	T	2: 152,726,155 (GRCm39)	Q373H	probably damaging	Het
Ttn	C	T	2: 76,557,352 (GRCm39)	R29914Q	probably damaging	Het
Ubr3	T	C	2: 69,833,809 (GRCm39)		probably null	Het
Usp18	G	A	6: 121,230,730 (GRCm39)	G53D	probably damaging	Het
Vps13c	A	T	9: 67,863,062 (GRCm39)	H3026L	probably benign	Het
Zan	T	C	5: 137,461,888 (GRCm39)	E1097G	unknown	Het

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
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
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

Posted On

2014-02-04