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-1, Cr1, CD35, Cr-2

MMRRC Submission

044838-MU

Accession Numbers

Essential gene?

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

Stock #

R6720 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

195136811-195176716 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 195155200 bp (GRCm38)

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: 137,454,686 (GRCm38)	E51K	possibly damaging	Het
Abca1	A	C	4: 53,083,733 (GRCm38)	L700R	probably damaging	Het
Arpc1a	C	A	5: 145,101,222 (GRCm38)		probably null	Het
Baz2b	G	T	2: 59,924,890 (GRCm38)	P241Q	probably damaging	Het
Cd6	T	A	19: 10,794,609 (GRCm38)	T414S	probably benign	Het
Ces2b	A	T	8: 104,836,869 (GRCm38)	E409D	probably benign	Het
Cfap54	A	G	10: 92,821,119 (GRCm38)	Y3024H	probably benign	Het
Chrm1	A	G	19: 8,678,548 (GRCm38)	T206A	probably benign	Het
Clptm1l	T	C	13: 73,618,516 (GRCm38)	W512R	probably damaging	Het
Col15a1	T	A	4: 47,247,552 (GRCm38)		probably null	Het
Cox15	A	G	19: 43,736,789 (GRCm38)	S392P	probably damaging	Het
Ddx60	A	G	8: 62,000,689 (GRCm38)	K1281E	probably benign	Het
Dnah11	A	G	12: 118,045,646 (GRCm38)	F2094L	probably damaging	Het
Ear2	T	A	14: 44,102,959 (GRCm38)	C25S	probably damaging	Het
Ect2l	T	C	10: 18,140,264 (GRCm38)	D802G	probably damaging	Het
Eftud2	G	A	11: 102,838,623 (GRCm38)	Q84*	probably null	Het
Eif4g3	T	A	4: 138,175,832 (GRCm38)		probably null	Het
Ephb2	T	C	4: 136,657,502 (GRCm38)	D866G	probably damaging	Het
Farsb	A	G	1: 78,472,497 (GRCm38)	M99T	probably damaging	Het
Foxs1	T	A	2: 152,932,720 (GRCm38)	S138C	probably damaging	Het
Frem1	T	G	4: 83,013,832 (GRCm38)	S211R	probably damaging	Het
Gm19410	G	A	8: 35,807,576 (GRCm38)	R1517Q	probably benign	Het
Gria2	T	C	3: 80,802,304 (GRCm38)	I27M	probably benign	Het
H2-Q7	A	G	17: 35,442,678 (GRCm38)	E299G	probably benign	Het
Hao2	T	G	3: 98,877,135 (GRCm38)	I305L	probably benign	Het
Hectd4	C	T	5: 121,307,381 (GRCm38)	Q122*	probably null	Het
Hivep1	T	A	13: 42,164,284 (GRCm38)	C2079S	probably damaging	Het
Hoxb1	C	A	11: 96,366,987 (GRCm38)	Q248K	probably damaging	Het
Hspb6	A	G	7: 30,554,347 (GRCm38)	D95G	probably benign	Het
Ighv5-2	T	A	12: 113,578,506 (GRCm38)	R117S	probably damaging	Het
Ino80d	A	C	1: 63,058,610 (GRCm38)	S708R	probably damaging	Het
Lman1l	A	G	9: 57,614,072 (GRCm38)		probably null	Het
Mmp15	A	G	8: 95,365,314 (GRCm38)	N51D	probably benign	Het
Naip1	T	C	13: 100,423,077 (GRCm38)	M1140V	probably benign	Het
Niban2	T	A	2: 32,905,826 (GRCm38)	V22D	probably damaging	Het
Or1e1f	A	G	11: 73,965,465 (GRCm38)	N286D	probably damaging	Het
Or2y8	A	G	11: 52,144,693 (GRCm38)	V279A	probably benign	Het
Or8b41	T	A	9: 38,143,153 (GRCm38)	M1K	probably null	Het
Or8k21	A	G	2: 86,315,065 (GRCm38)	S74P	probably damaging	Het
Pard3b	A	T	1: 62,159,470 (GRCm38)	N239I	probably damaging	Het
Parvb	C	T	15: 84,297,979 (GRCm38)	R237W	probably damaging	Het
Pcdha9	T	C	18: 36,998,069 (GRCm38)	S64P	probably damaging	Het
Pdcd1	T	C	1: 94,041,389 (GRCm38)	N68S	probably benign	Het
Pi4ka	G	T	16: 17,326,052 (GRCm38)		probably null	Het
Plekha4	A	T	7: 45,540,886 (GRCm38)	D359V	possibly damaging	Het
Serpinb13	A	G	1: 106,994,062 (GRCm38)	I78V	probably benign	Het
Slc39a7	T	A	17: 34,030,108 (GRCm38)	T269S	probably benign	Het
Sltm	T	G	9: 70,573,710 (GRCm38)	D281E	probably damaging	Het
Zfp708	T	C	13: 67,071,432 (GRCm38)	Y76C	probably damaging	Het
Zfp990	T	A	4: 145,536,927 (GRCm38)	V165D	possibly 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
R3941:Cr2	UTSW	1	195,165,814 (GRCm38)	missense	probably damaging	0.97
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
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'- ATCACCATTTCAGGTAATCTTGCTC -3'
(R):5'- TGATTCTAAAGGTCATGGCTCTTG -3'

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

Posted On

2018-08-01