Mutagenetix > Incidental Mutation

Incidental Mutation 'R8517:Cr2'

656184

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

067849-MU

Accession Numbers

Essential gene?

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

Stock #

R8517 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

194819119-194859024 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 194838207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 710 (I710V)

Ref Sequence

ENSEMBL: ENSMUSP00000080938 (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: I710V

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000080938
Gene: ENSMUSG00000026616
AA Change: I710V

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: I413V

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000141706
Gene: ENSMUSG00000026616
AA Change: I413V

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

probably benign
Transcript: ENSMUST00000195120
AA Change: I710V

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000141538
Gene: ENSMUSG00000026616
AA Change: I710V

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

unknown
Transcript: ENSMUST00000210219
AA Change: I1086V

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,861,206 (GRCm39)	D131E	probably damaging	Het
Abca17	C	A	17: 24,536,207 (GRCm39)	V487F	probably benign	Het
Anapc5	T	C	5: 122,959,093 (GRCm39)	S41G	probably benign	Het
Aoc1	C	T	6: 48,883,644 (GRCm39)	Q507*	probably null	Het
Ccdc171	G	A	4: 83,661,298 (GRCm39)	R1136H	probably damaging	Het
Clspn	A	G	4: 126,460,012 (GRCm39)	D413G	probably benign	Het
Copz2	A	G	11: 96,744,309 (GRCm39)	K74E	possibly damaging	Het
Cpsf4l	C	A	11: 113,599,651 (GRCm39)	A45S	probably benign	Het
Csmd2	G	A	4: 128,446,479 (GRCm39)	R3348Q		Het
Dchs2	A	G	3: 83,178,419 (GRCm39)	I1157M	probably damaging	Het
Dcst1	A	G	3: 89,272,455 (GRCm39)	F3L	probably benign	Het
Dennd5b	A	C	6: 148,930,619 (GRCm39)	C743G	probably damaging	Het
Dnah6	T	C	6: 73,155,440 (GRCm39)	E725G	probably benign	Het
Dnajc3	G	T	14: 119,190,589 (GRCm39)	G51*	probably null	Het
Dyrk2	T	C	10: 118,696,926 (GRCm39)	T111A	probably benign	Het
F5	T	A	1: 164,003,822 (GRCm39)	F206I	probably damaging	Het
Fam217b	T	A	2: 178,062,565 (GRCm39)	S176R	probably benign	Het
Farsb	A	T	1: 78,439,933 (GRCm39)	L313*	probably null	Het
Fbh1	A	G	2: 11,782,241 (GRCm39)		probably null	Het
Fgd4	G	A	16: 16,240,509 (GRCm39)	T740I	probably benign	Het
Gprc6a	G	T	10: 51,507,337 (GRCm39)	A64D	probably benign	Het
Gtf3c1	A	T	7: 125,253,723 (GRCm39)	V1365E	probably damaging	Het
Hdc	C	G	2: 126,439,890 (GRCm39)		probably null	Het
Igkv5-39	T	G	6: 69,877,553 (GRCm39)	I68L	possibly damaging	Het
Kcnh2	A	T	5: 24,531,636 (GRCm39)	V425D	probably damaging	Het
Kcnj12	T	C	11: 60,960,199 (GRCm39)	S166P	probably benign	Het
Krtap16-1	A	T	11: 99,876,524 (GRCm39)	C293*	probably null	Het
Map7	T	C	10: 20,137,581 (GRCm39)	V251A	probably damaging	Het
Myo7b	G	T	18: 32,100,244 (GRCm39)	L1597M	possibly damaging	Het
Nmu	T	C	5: 76,493,326 (GRCm39)	E82G	possibly damaging	Het
Nup85	T	C	11: 115,455,390 (GRCm39)		probably null	Het
Nwd2	A	G	5: 63,948,925 (GRCm39)	N166D	probably damaging	Het
Or52n2b	T	A	7: 104,565,681 (GRCm39)	H274L	possibly damaging	Het
Pbrm1	C	A	14: 30,789,739 (GRCm39)	D784E	probably benign	Het
Pcdhgb1	T	A	18: 37,815,117 (GRCm39)	M536K	possibly damaging	Het
Pml	T	A	9: 58,127,651 (GRCm39)	Q698L	possibly damaging	Het
Pon1	T	C	6: 5,171,769 (GRCm39)	Y294C	probably benign	Het
Rasal2	T	C	1: 156,973,849 (GRCm39)		probably null	Het
Rims1	T	A	1: 22,522,246 (GRCm39)	H484L	probably damaging	Het
Rpia	C	A	6: 70,743,630 (GRCm39)	V274L	possibly damaging	Het
Sart1	A	G	19: 5,433,225 (GRCm39)	L424P	probably damaging	Het
Scnm1	A	C	3: 95,040,134 (GRCm39)		probably null	Het
Slfn8	T	A	11: 82,894,968 (GRCm39)	M613L	possibly damaging	Het
Snph	A	G	2: 151,435,641 (GRCm39)	V429A	probably damaging	Het
Tarbp1	T	A	8: 127,170,934 (GRCm39)	D1022V	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Ttc8	A	G	12: 98,909,594 (GRCm39)	N100D	probably benign	Het
Zbtb49	T	A	5: 38,357,997 (GRCm39)	H752L	probably benign	Het
Zfp1005	A	T	2: 150,110,043 (GRCm39)	E244D	probably benign	Het
Zfp263	T	C	16: 3,564,760 (GRCm39)		probably null	Het
Zfp46	A	G	4: 136,018,458 (GRCm39)	T431A	probably benign	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
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
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'- GGAAACTAGAGCATGCTTTCG -3'
(R):5'- AAGTTTCTCTGTGCCAAGGG -3'

Sequencing Primer
(F):5'- CTAGAGCATGCTTTCGGTTAAATAAC -3'
(R):5'- CCAAGGGGCTCATTTAGAAATATCTC -3'

Posted On

2020-10-20