Mutagenetix > Incidental Mutation

Incidental Mutation 'R6720:Cr2'

529521

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

044838-MU

Accession Numbers

Essential gene?

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

Stock #

R6720 (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 194837508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1197 (M1197V)

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

possibly damaging
Transcript: ENSMUST00000082321
AA Change: M821V

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080938
Gene: ENSMUSG00000026616
AA Change: M821V

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: M524V

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141706
Gene: ENSMUSG00000026616
AA Change: M524V

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: M821V

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141538
Gene: ENSMUSG00000026616
AA Change: M821V

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 damaging
Transcript: ENSMUST00000210219
AA Change: M1197V

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

Meta Mutation Damage Score

0.4748

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.6%

Validation Efficiency

98% (50/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	G	A	4: 137,181,997 (GRCm39)	E51K	possibly damaging	Het
Abca1	A	C	4: 53,083,733 (GRCm39)	L700R	probably damaging	Het
Arpc1a	C	A	5: 145,038,032 (GRCm39)		probably null	Het
Baz2b	G	T	2: 59,755,234 (GRCm39)	P241Q	probably damaging	Het
Cd6	T	A	19: 10,771,973 (GRCm39)	T414S	probably benign	Het
Ces2b	A	T	8: 105,563,501 (GRCm39)	E409D	probably benign	Het
Cfap54	A	G	10: 92,656,981 (GRCm39)	Y3024H	probably benign	Het
Chrm1	A	G	19: 8,655,912 (GRCm39)	T206A	probably benign	Het
Clptm1l	T	C	13: 73,766,635 (GRCm39)	W512R	probably damaging	Het
Col15a1	T	A	4: 47,247,552 (GRCm39)		probably null	Het
Cox15	A	G	19: 43,725,228 (GRCm39)	S392P	probably damaging	Het
Cplx3	A	G	9: 57,521,355 (GRCm39)		probably null	Het
Ddx60	A	G	8: 62,453,723 (GRCm39)	K1281E	probably benign	Het
Dnah11	A	G	12: 118,009,381 (GRCm39)	F2094L	probably damaging	Het
Ear2	T	A	14: 44,340,416 (GRCm39)	C25S	probably damaging	Het
Ect2l	T	C	10: 18,016,012 (GRCm39)	D802G	probably damaging	Het
Eftud2	G	A	11: 102,729,449 (GRCm39)	Q84*	probably null	Het
Eif4g3	T	A	4: 137,903,143 (GRCm39)		probably null	Het
Ephb2	T	C	4: 136,384,813 (GRCm39)	D866G	probably damaging	Het
Farsb	A	G	1: 78,449,134 (GRCm39)	M99T	probably damaging	Het
Foxs1	T	A	2: 152,774,640 (GRCm39)	S138C	probably damaging	Het
Frem1	T	G	4: 82,932,069 (GRCm39)	S211R	probably damaging	Het
Gm19410	G	A	8: 36,274,730 (GRCm39)	R1517Q	probably benign	Het
Gria2	T	C	3: 80,709,611 (GRCm39)	I27M	probably benign	Het
H2-Q7	A	G	17: 35,661,654 (GRCm39)	E299G	probably benign	Het
Hao2	T	G	3: 98,784,451 (GRCm39)	I305L	probably benign	Het
Hectd4	C	T	5: 121,445,444 (GRCm39)	Q122*	probably null	Het
Hivep1	T	A	13: 42,317,760 (GRCm39)	C2079S	probably damaging	Het
Hoxb1	C	A	11: 96,257,813 (GRCm39)	Q248K	probably damaging	Het
Hspb6	A	G	7: 30,253,772 (GRCm39)	D95G	probably benign	Het
Ighv5-2	T	A	12: 113,542,126 (GRCm39)	R117S	probably damaging	Het
Ino80d	A	C	1: 63,097,769 (GRCm39)	S708R	probably damaging	Het
Mmp15	A	G	8: 96,091,942 (GRCm39)	N51D	probably benign	Het
Naip1	T	C	13: 100,559,585 (GRCm39)	M1140V	probably benign	Het
Niban2	T	A	2: 32,795,838 (GRCm39)	V22D	probably damaging	Het
Or1e1f	A	G	11: 73,856,291 (GRCm39)	N286D	probably damaging	Het
Or2y8	A	G	11: 52,035,520 (GRCm39)	V279A	probably benign	Het
Or8b41	T	A	9: 38,054,449 (GRCm39)	M1K	probably null	Het
Or8k21	A	G	2: 86,145,409 (GRCm39)	S74P	probably damaging	Het
Pard3b	A	T	1: 62,198,629 (GRCm39)	N239I	probably damaging	Het
Parvb	C	T	15: 84,182,180 (GRCm39)	R237W	probably damaging	Het
Pcdha9	T	C	18: 37,131,122 (GRCm39)	S64P	probably damaging	Het
Pdcd1	T	C	1: 93,969,114 (GRCm39)	N68S	probably benign	Het
Pi4ka	G	T	16: 17,143,916 (GRCm39)		probably null	Het
Plekha4	A	T	7: 45,190,310 (GRCm39)	D359V	possibly damaging	Het
Serpinb13	A	G	1: 106,921,792 (GRCm39)	I78V	probably benign	Het
Slc39a7	T	A	17: 34,249,082 (GRCm39)	T269S	probably benign	Het
Sltm	T	G	9: 70,480,992 (GRCm39)	D281E	probably damaging	Het
Zfp708	T	C	13: 67,219,496 (GRCm39)	Y76C	probably damaging	Het
Zfp990	T	A	4: 145,263,497 (GRCm39)	V165D	possibly damaging	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
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'- ATCACCATTTCAGGTAATCTTGCTC -3'
(R):5'- TGATTCTAAAGGTCATGGCTCTTG -3'

Sequencing Primer
(F):5'- CACTAACTGCTTTAGCTTTTAGATGC -3'
(R):5'- CATGGCTCTTGGAGTGGACCTC -3'

Posted On

2018-08-01