Mutagenetix > Incidental Mutation

Incidental Mutation 'R0626:Cr2'

57457

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

038815-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R0626 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

195136811-195176716 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 195171111 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 20 (S20A)

Ref Sequence

ENSEMBL: ENSMUSP00000044261 (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: S20A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000044261
Gene: ENSMUSG00000026616
AA Change: S20A

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 benign
Transcript: ENSMUST00000210219
AA Change: S40A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,788,721		probably benign	Het
6430571L13Rik	T	A	9: 107,342,508	D53E	possibly damaging	Het
A2ml1	T	A	6: 128,550,773	N1018I	probably damaging	Het
Abi3	C	A	11: 95,837,111	A85S	probably benign	Het
Acsl5	A	T	19: 55,284,472	M340L	probably benign	Het
Adam29	T	A	8: 55,871,577	H614L	probably benign	Het
Adgrg6	A	T	10: 14,436,884	S720T	probably damaging	Het
Adrb2	G	T	18: 62,179,370	A128E	probably damaging	Het
Afap1l1	T	C	18: 61,739,220	E510G	probably benign	Het
Angel1	A	G	12: 86,717,713		probably null	Het
Aox3	T	G	1: 58,172,299	I1005S	possibly damaging	Het
Apc	C	A	18: 34,318,454	P2767Q	probably damaging	Het
Apob	T	G	12: 8,016,193	D4387E	probably benign	Het
Apobr	T	C	7: 126,586,655	V446A	possibly damaging	Het
Arhgap28	A	T	17: 67,896,113		probably null	Het
Aspm	G	T	1: 139,491,601	K3001N	probably damaging	Het
Asxl3	G	T	18: 22,522,880	V1316F	probably benign	Het
Atp2a1	T	A	7: 126,446,990		probably null	Het
Bach1	A	G	16: 87,729,471	D607G	possibly damaging	Het
Batf3	A	G	1: 191,100,738	D27G	probably damaging	Het
Baz1a	G	T	12: 54,975,270	Q76K	probably damaging	Het
Bdnf	G	A	2: 109,723,538	V86M	probably benign	Het
Birc7	A	G	2: 180,931,305	I172V	probably benign	Het
Bod1l	A	C	5: 41,831,537	V409G	probably damaging	Het
Cacna1e	T	A	1: 154,488,817	E337V	probably damaging	Het
Cacna1h	A	G	17: 25,393,546	F287L	possibly damaging	Het
Ces1e	A	G	8: 93,224,043	Y37H	probably benign	Het
Clasrp	A	T	7: 19,584,493		probably benign	Het
Clec2d	T	A	6: 129,183,127	S35T	probably damaging	Het
Cntn4	T	A	6: 106,662,578	D556E	probably benign	Het
Cntnap5c	A	T	17: 58,042,427	D245V	probably benign	Het
Col5a1	T	A	2: 27,928,243	L160*	probably null	Het
Col6a6	T	C	9: 105,777,744	E926G	probably benign	Het
Cpsf2	T	A	12: 101,985,231	H142Q	probably benign	Het
Cyp2j5	A	T	4: 96,659,512	H164Q	probably benign	Het
D430041D05Rik	G	C	2: 104,167,950	P1836R	probably damaging	Het
Dmbt1	G	A	7: 131,102,081	V1124M	probably damaging	Het
Dmxl2	T	C	9: 54,416,554	H1182R	probably damaging	Het
Dnah2	A	T	11: 69,477,683	S1709T	probably benign	Het
Dopey2	T	C	16: 93,763,956	V776A	probably damaging	Het
Emc3	T	C	6: 113,516,031	T220A	probably benign	Het
Entpd1	A	C	19: 40,727,325	N312T	probably benign	Het
Fam8a1	A	T	13: 46,671,223	I229F	probably damaging	Het
Fancc	G	A	13: 63,317,391	P501S	probably damaging	Het
Fasn	T	C	11: 120,811,925	R1704G	probably damaging	Het
Fsip2	A	G	2: 82,988,958	I5012V	probably benign	Het
Glce	T	C	9: 62,061,000	T290A	probably benign	Het
Gm648	G	A	X: 56,545,039	P134L	probably benign	Het
Gns	G	A	10: 121,383,444		probably null	Het
Gsdma2	A	G	11: 98,651,984	N190S	probably damaging	Het
Hectd4	T	A	5: 121,277,824	S563T	probably benign	Het
Hmcn1	T	C	1: 150,798,719		probably null	Het
Jup	A	T	11: 100,376,763	M578K	probably benign	Het
Kir3dl1	G	A	X: 136,533,845		probably null	Het
Krt75	A	G	15: 101,573,590	F81S	probably benign	Het
Lrp1	G	T	10: 127,567,364	D2113E	probably damaging	Het
Maged2	T	A	X: 150,811,834	N176Y	probably damaging	Het
Mrc1	T	A	2: 14,328,571	C1354*	probably null	Het
Mup7	A	C	4: 60,069,742	V74G	possibly damaging	Het
Naca	A	G	10: 128,041,162		probably benign	Het
Nav3	T	G	10: 109,823,464	Y764S	probably damaging	Het
Nkpd1	A	T	7: 19,523,174	T293S	probably benign	Het
Numb	A	G	12: 83,795,840	Y510H	probably damaging	Het
Nynrin	T	G	14: 55,868,035	L834R	probably damaging	Het
Olfr1537	T	A	9: 39,237,866	N186I	possibly damaging	Het
Olfr318	G	T	11: 58,720,521	H176N	probably benign	Het
Olfr743	T	C	14: 50,533,702	S97P	possibly damaging	Het
Otog	T	C	7: 46,271,373	V1000A	possibly damaging	Het
Pafah1b3	A	G	7: 25,297,129	V43A	possibly damaging	Het
Pcnx	A	G	12: 81,983,676	Y1775C	possibly damaging	Het
Phka1	G	A	X: 102,520,831	R1074C	probably damaging	Het
Pi4ka	T	A	16: 17,293,901	Y1570F	probably benign	Het
Piezo2	T	C	18: 63,019,258	K2588E	probably damaging	Het
Pkd1	A	G	17: 24,575,575	T2079A	probably damaging	Het
Plekhd1	G	T	12: 80,717,301	Q212H	probably damaging	Het
Plekhh1	C	T	12: 79,040,585	R16*	probably null	Het
Polm	C	A	11: 5,836,207	R120L	probably damaging	Het
Ptpn22	T	C	3: 103,860,405	M1T	probably null	Het
Ptprh	G	A	7: 4,564,272	L534F	probably benign	Het
Rabl6	C	T	2: 25,592,766		probably null	Het
Rap2a	A	G	14: 120,478,991	S89G	probably damaging	Het
Rara	A	T	11: 98,971,580		probably null	Het
Reck	A	G	4: 43,930,295	D623G	probably benign	Het
Relt	A	T	7: 100,848,816	L237Q	probably damaging	Het
Rngtt	A	G	4: 33,329,598		probably null	Het
Rtn4rl2	T	G	2: 84,880,419	Y167S	probably damaging	Het
Sec24c	C	T	14: 20,688,437	R353C	probably damaging	Het
Slc35g2	T	C	9: 100,553,442	S59G	probably benign	Het
Smarcd2	A	T	11: 106,267,415	M107K	probably benign	Het
Smg1	T	C	7: 118,182,383	N1227S	possibly damaging	Het
Snrnp200	A	G	2: 127,221,814	N638D	possibly damaging	Het
Sntb1	A	G	15: 55,642,783	S465P	probably benign	Het
Sp4	A	G	12: 118,299,579	L244P	probably damaging	Het
Sulf1	A	G	1: 12,817,492		probably null	Het
Tbc1d17	T	C	7: 44,843,085	T385A	probably benign	Het
Tbx10	C	A	19: 3,997,873	D206E	probably benign	Het
Tcea2	C	T	2: 181,687,638	P275S	probably damaging	Het
Tns3	C	A	11: 8,493,121	R414L	probably benign	Het
Trip11	T	C	12: 101,885,976	R610G	possibly damaging	Het
Ugt2b1	T	C	5: 86,925,861	K213R	probably null	Het
Unc80	A	G	1: 66,608,442	S1514G	probably benign	Het
Usp7	G	T	16: 8,693,914	Q867K	possibly damaging	Het
Vim	T	C	2: 13,574,652	V74A	probably benign	Het
Vmn1r234	A	G	17: 21,229,745	Y307C	probably benign	Het
Vmn2r74	A	T	7: 85,961,309	Y58*	probably null	Het
Wdr36	C	A	18: 32,850,531	A445E	probably damaging	Het
Xpo5	T	A	17: 46,221,433	W465R	probably damaging	Het
Zscan4d	T	A	7: 11,165,019	R110S	probably damaging	Het

Other mutations in Cr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00587:Cr2	APN	1	195154251	missense	possibly damaging	0.76
IGL01326:Cr2	APN	1	195141221	missense	probably null	1.00
IGL01358:Cr2	APN	1	195159820	missense	probably damaging	1.00
IGL01410:Cr2	APN	1	195163234	missense	possibly damaging	0.49
IGL01468:Cr2	APN	1	195168535	missense	probably damaging	1.00
IGL01608:Cr2	APN	1	195155220	missense	possibly damaging	0.50
IGL01810:Cr2	APN	1	195159595	missense	possibly damaging	0.49
IGL01843:Cr2	APN	1	195150914	splice site	probably benign
IGL02332:Cr2	APN	1	195160322	missense	probably benign	0.19
IGL02934:Cr2	APN	1	195154325	splice site	probably benign
IGL02938:Cr2	APN	1	195166388	missense	probably damaging	1.00
IGL03149:Cr2	APN	1	195166366	missense	probably damaging	1.00
IGL03327:Cr2	APN	1	195169759	missense	probably damaging	1.00
IGL03346:Cr2	APN	1	195169759	missense	probably damaging	1.00
Pillar	UTSW	1	195155888	nonsense	probably null
PIT4354001:Cr2	UTSW	1	195166309	missense	probably damaging	1.00
PIT4418001:Cr2	UTSW	1	195157452	missense	probably benign	0.08
R0128:Cr2	UTSW	1	195166231	missense	probably damaging	0.99
R0130:Cr2	UTSW	1	195166231	missense	probably damaging	0.99
R0380:Cr2	UTSW	1	195157407	missense	probably damaging	1.00
R0538:Cr2	UTSW	1	195160359	splice site	probably benign
R0605:Cr2	UTSW	1	195163596	splice site	probably benign
R1135:Cr2	UTSW	1	195157190	missense	probably damaging	1.00
R1396:Cr2	UTSW	1	195169253	splice site	probably null
R1422:Cr2	UTSW	1	195171125	missense	probably benign	0.01
R1467:Cr2	UTSW	1	195157509	missense	probably damaging	1.00
R1467:Cr2	UTSW	1	195157509	missense	probably damaging	1.00
R1511:Cr2	UTSW	1	195155272	missense	possibly damaging	0.92
R1572:Cr2	UTSW	1	195163314	missense	probably damaging	1.00
R1714:Cr2	UTSW	1	195151686	missense	possibly damaging	0.46
R1748:Cr2	UTSW	1	195155905	nonsense	probably null
R1761:Cr2	UTSW	1	195155123	critical splice donor site	probably null
R1824:Cr2	UTSW	1	195157316	missense	probably damaging	1.00
R1893:Cr2	UTSW	1	195155187	missense	probably benign	0.03
R1990:Cr2	UTSW	1	195154150	missense	possibly damaging	0.63
R1991:Cr2	UTSW	1	195154150	missense	possibly damaging	0.63
R1992:Cr2	UTSW	1	195154150	missense	possibly damaging	0.63
R2191:Cr2	UTSW	1	195163381	missense	possibly damaging	0.94
R2276:Cr2	UTSW	1	195157368	missense	possibly damaging	0.94
R2277:Cr2	UTSW	1	195157368	missense	possibly damaging	0.94
R3548:Cr2	UTSW	1	195155888	nonsense	probably null
R3743:Cr2	UTSW	1	195149966	splice site	probably benign
R3941:Cr2	UTSW	1	195165814	missense	probably damaging	0.97
R3963:Cr2	UTSW	1	195159739	missense	probably damaging	1.00
R4211:Cr2	UTSW	1	195156328	missense	probably damaging	0.96
R4484:Cr2	UTSW	1	195154174	missense	probably damaging	1.00
R4546:Cr2	UTSW	1	195171041	missense	possibly damaging	0.94
R4791:Cr2	UTSW	1	195155935	missense	probably damaging	1.00
R4801:Cr2	UTSW	1	195163311	missense	probably damaging	1.00
R4802:Cr2	UTSW	1	195163311	missense	probably damaging	1.00
R4874:Cr2	UTSW	1	195176570	missense	possibly damaging	0.82
R4885:Cr2	UTSW	1	195158731	missense	possibly damaging	0.92
R4889:Cr2	UTSW	1	195176585	missense	possibly damaging	0.70
R5154:Cr2	UTSW	1	195159446	missense	probably damaging	1.00
R5574:Cr2	UTSW	1	195141236	missense	probably damaging	1.00
R5594:Cr2	UTSW	1	195157190	missense	probably damaging	1.00
R5645:Cr2	UTSW	1	195154273	missense	probably damaging	1.00
R5700:Cr2	UTSW	1	195159757	missense	probably damaging	0.96
R5929:Cr2	UTSW	1	195171111	missense	possibly damaging	0.91
R6237:Cr2	UTSW	1	195157502	missense	probably damaging	1.00
R6299:Cr2	UTSW	1	195168646	missense	probably damaging	1.00
R6368:Cr2	UTSW	1	195168472	missense	probably damaging	1.00
R6406:Cr2	UTSW	1	195169771	missense	probably damaging	1.00
R6618:Cr2	UTSW	1	195157379	missense	probably damaging	0.98
R6684:Cr2	UTSW	1	195171021	nonsense	probably null
R6720:Cr2	UTSW	1	195155200	missense	probably damaging	0.97
R6866:Cr2	UTSW	1	195151691	missense	probably damaging	1.00
R6915:Cr2	UTSW	1	195171146	missense	probably benign	0.06
R7057:Cr2	UTSW	1	195151610	missense	possibly damaging	0.83
R7117:Cr2	UTSW	1	195160601	missense	possibly damaging	0.79
R7200:Cr2	UTSW	1	195163249	missense	probably damaging	1.00
R7209:Cr2	UTSW	1	195168724	missense	probably damaging	1.00
R7350:Cr2	UTSW	1	195155286	missense	probably benign	0.21
R7414:Cr2	UTSW	1	195150036	missense	probably benign
R7453:Cr2	UTSW	1	195165257	splice site	probably null
R7479:Cr2	UTSW	1	195158410	critical splice donor site	probably null
R7480:Cr2	UTSW	1	195154176	missense	probably damaging	1.00
R7570:Cr2	UTSW	1	195169340	nonsense	probably null
R7666:Cr2	UTSW	1	195154225	missense	probably damaging	1.00
R7921:Cr2	UTSW	1	195151667	missense	possibly damaging	0.94
R7923:Cr2	UTSW	1	195168687	missense	probably benign	0.03
R8396:Cr2	UTSW	1	195158068	missense	probably damaging	1.00
R8503:Cr2	UTSW	1	195163542	missense	probably benign
R8517:Cr2	UTSW	1	195155899	missense	probably benign	0.03
R8773:Cr2	UTSW	1	195158605	missense	probably damaging	1.00
R8849:Cr2	UTSW	1	195157239	missense	probably damaging	1.00
R8896:Cr2	UTSW	1	195169273	missense	possibly damaging	0.58
R8938:Cr2	UTSW	1	195171116	missense	probably damaging	0.99
R9027:Cr2	UTSW	1	195151721	missense	probably benign	0.08
R9045:Cr2	UTSW	1	195155372	missense	possibly damaging	0.61
R9116:Cr2	UTSW	1	195158669	nonsense	probably null
R9137:Cr2	UTSW	1	195168332	critical splice donor site	probably null
R9476:Cr2	UTSW	1	195158108	missense	probably damaging	0.97
R9497:Cr2	UTSW	1	195168435	missense	probably damaging	0.99
R9510:Cr2	UTSW	1	195158108	missense	probably damaging	0.97
R9752:Cr2	UTSW	1	195141267	missense	probably benign	0.37
R9799:Cr2	UTSW	1	195160680	missense	probably benign	0.02
X0028:Cr2	UTSW	1	195149982	missense	probably benign	0.09
X0066:Cr2	UTSW	1	195166321	missense	probably damaging	0.99
Z1176:Cr2	UTSW	1	195154153	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- AGCATAAACTGTGGTGGTGACTTACAC -3'
(R):5'- TAGAGAGTGCTGCTGTCTCACAGG -3'

Sequencing Primer
(F):5'- GGTGGTGACTTACACACTAGTACTC -3'
(R):5'- CCAGATCCTCCTCTGAAGTATG -3'

Posted On

2013-07-11