Mutagenetix > Incidental Mutation

Incidental Mutation 'R3941:Cr2'

307430

Institutional Source

Beutler Lab

Gene Symbol

Cr2

Ensembl Gene

ENSMUSG00000026616

Gene Name

complement receptor 2

Synonyms

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

MMRRC Submission

040923-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R3941 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

195136811-195176716 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 195165814 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 345 (H345Q)

Ref Sequence

ENSEMBL: ENSMUSP00000147804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043104] [ENSMUST00000082321] [ENSMUST00000193801] [ENSMUST00000195120] [ENSMUST00000210219]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043104
AA Change: H325Q

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044261
Gene: ENSMUSG00000026616
AA Change: H325Q

Domain	Start	End	E-Value	Type
CCP	2	58	5.04e-7	SMART
CCP	63	120	3.58e-12	SMART
CCP	125	191	1.2e-13	SMART
CCP	197	252	2.73e-17	SMART
CCP	256	311	1.01e-15	SMART
Blast:CCP	316	347	2e-13	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000082321

SMART Domains

Protein: ENSMUSP00000080938
Gene: ENSMUSG00000026616

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: 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

SMART Domains

Protein: ENSMUSP00000141538
Gene: ENSMUSG00000026616

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: ENSMUST00000195347

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195722

Predicted Effect

probably damaging
Transcript: ENSMUST00000210219
AA Change: H345Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.3802

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

98% (55/56)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610203C20Rik	T	C	9: 41,590,274 (GRCm38)	L143P	probably damaging	Het
Abcc1	A	T	16: 14,396,399 (GRCm38)	T193S	probably benign	Het
Arhgap11a	A	T	2: 113,836,897 (GRCm38)	L435Q	probably damaging	Het
Bin1	T	C	18: 32,406,158 (GRCm38)	V48A	probably damaging	Het
Brinp3	C	A	1: 146,751,861 (GRCm38)	D277E	probably damaging	Het
Btn1a1	T	G	13: 23,459,264 (GRCm38)	R338S	probably benign	Het
Cacnb4	C	A	2: 52,469,489 (GRCm38)	R169L	probably damaging	Het
Ccdc80	A	G	16: 45,096,092 (GRCm38)	T404A	probably benign	Het
Cd2ap	G	C	17: 42,808,799 (GRCm38)	H488D	probably damaging	Het
Cdon	A	G	9: 35,464,171 (GRCm38)	T498A	probably benign	Het
Cngb3	A	G	4: 19,396,786 (GRCm38)	N380D	probably benign	Het
Col6a5	G	A	9: 105,939,834 (GRCm38)	S426F	unknown	Het
Cttnbp2	T	A	6: 18,427,453 (GRCm38)	K743M	probably benign	Het
Depdc1b	T	C	13: 108,368,836 (GRCm38)	S245P	probably damaging	Het
Dync2h1	G	A	9: 7,124,825 (GRCm38)	H2016Y	probably benign	Het
Eif2s3y	G	T	Y: 1,012,079 (GRCm38)	R98L	probably benign	Het
Eml6	C	T	11: 29,803,167 (GRCm38)	G915S	probably damaging	Het
Fcgr1	A	G	3: 96,286,033 (GRCm38)	L216P	probably benign	Het
Fpr-rs3	T	C	17: 20,624,849 (GRCm38)	N10S	probably benign	Het
Frem3	T	C	8: 80,615,020 (GRCm38)	I1314T	possibly damaging	Het
Gabrr3	A	G	16: 59,433,501 (GRCm38)	N194D	probably damaging	Het
Hey1	A	G	3: 8,664,578 (GRCm38)	L273P	probably damaging	Het
Irf6	A	G	1: 193,168,549 (GRCm38)	K365E	probably benign	Het
Kit	A	G	5: 75,609,318 (GRCm38)	D130G	probably benign	Het
Lrp1	G	A	10: 127,553,396 (GRCm38)	A3217V	probably damaging	Het
Mei4	C	T	9: 81,927,283 (GRCm38)	R140C	probably benign	Het
Mpo	A	T	11: 87,797,349 (GRCm38)	K278M	probably benign	Het
Mprip	T	C	11: 59,731,502 (GRCm38)		probably benign	Het
Mug2	G	C	6: 122,063,563 (GRCm38)	G691R	probably benign	Het
Neto2	G	A	8: 85,674,118 (GRCm38)	T16I	probably damaging	Het
Nipal4	C	T	11: 46,150,646 (GRCm38)	V241M	probably damaging	Het
Nlrp2	A	T	7: 5,327,552 (GRCm38)	L615*	probably null	Het
Pcdh1	A	G	18: 38,199,458 (GRCm38)	V164A	probably benign	Het
Phc2	T	C	4: 128,747,244 (GRCm38)		probably null	Het
Plekhg3	A	G	12: 76,573,359 (GRCm38)	E623G	probably damaging	Het
Psors1c2	G	T	17: 35,533,928 (GRCm38)	G29*	probably null	Het
Slc25a54	A	T	3: 109,112,163 (GRCm38)	D361V	probably damaging	Het
Slc39a12	A	T	2: 14,396,181 (GRCm38)	H123L	possibly damaging	Het
Sorl1	T	C	9: 41,989,468 (GRCm38)		probably null	Het
Strn	A	T	17: 78,657,940 (GRCm38)	I641N	probably damaging	Het
Tapbp	A	G	17: 33,920,483 (GRCm38)	E151G	possibly damaging	Het
Ticrr	T	C	7: 79,693,697 (GRCm38)		probably benign	Het
Tnfrsf21	G	A	17: 43,038,010 (GRCm38)	C171Y	probably damaging	Het
Ttyh1	T	A	7: 4,129,318 (GRCm38)	L155H	probably damaging	Het
Utrn	T	A	10: 12,711,585 (GRCm38)		probably null	Het
Vmn1r175	A	G	7: 23,808,968 (GRCm38)	V78A	probably benign	Het
Vmn1r73	T	C	7: 11,756,755 (GRCm38)	Y167H	probably damaging	Het
Washc1	T	C	17: 66,118,128 (GRCm38)	S376P	probably damaging	Het
Wnt10a	T	A	1: 74,803,497 (GRCm38)		probably null	Het
Xrcc4	A	G	13: 90,071,633 (GRCm38)	V16A	probably benign	Het
Zeb1	T	C	18: 5,767,799 (GRCm38)	V770A	probably benign	Het
Zfp410	A	G	12: 84,338,753 (GRCm38)	N90S	probably damaging	Het

Other mutations in Cr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00587:Cr2	APN	1	195,154,251 (GRCm38)	missense	possibly damaging	0.76
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
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

Predicted Primers

PCR Primer
(F):5'- TGGCAGAGTTCTTAGTCAGAAAAGG -3'
(R):5'- AGTCCCGACATGTGAAGGTG -3'

Sequencing Primer
(F):5'- CAATCAGTGCAGGTCCTAT -3'
(R):5'- CCCGACATGTGAAGGTGCTTATAG -3'

Posted On

2015-04-17