Mutagenetix > Incidental Mutation

Incidental Mutation 'R5700:Cr2'

450827

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

043328-MU

Accession Numbers

Essential gene?

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

Stock #

R5700 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

195136811-195176716 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 195159757 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 296 (V296A)

Ref Sequence

ENSEMBL: ENSMUSP00000141538 (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: V296A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080938
Gene: ENSMUSG00000026616
AA Change: V296A

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

SMART Domains

Protein: ENSMUSP00000141706
Gene: ENSMUSG00000026616

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: 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 damaging
Transcript: ENSMUST00000195120
AA Change: V296A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141538
Gene: ENSMUSG00000026616
AA Change: V296A

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

possibly damaging
Transcript: ENSMUST00000210219
AA Change: V672A

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.5846

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,798,194 (GRCm38)	Q155L	probably benign	Het
Acadvl	A	C	11: 70,013,203 (GRCm38)	Y242D	probably damaging	Het
Armc8	A	G	9: 99,496,149 (GRCm38)		probably null	Het
Barx2	A	T	9: 31,858,765 (GRCm38)	F156I	probably damaging	Het
Best1	T	C	19: 9,997,199 (GRCm38)		probably benign	Het
Btbd8	T	C	5: 107,503,648 (GRCm38)	S136P	possibly damaging	Het
Btla	T	A	16: 45,250,573 (GRCm38)	Y298*	probably null	Het
Casr	T	A	16: 36,509,617 (GRCm38)	I452F	probably damaging	Het
Ccser1	C	A	6: 61,311,276 (GRCm38)	P141H	probably benign	Het
Csl	T	A	10: 99,759,015 (GRCm38)	I63F	probably damaging	Het
Dbt	G	A	3: 116,520,303 (GRCm38)	V40M	probably damaging	Het
Fam53b	A	T	7: 132,760,020 (GRCm38)	L93Q	probably damaging	Het
Fdps	T	C	3: 89,095,649 (GRCm38)	I105V	probably damaging	Het
Gm4884	A	G	7: 41,043,219 (GRCm38)	D204G	probably benign	Het
Gm5592	A	G	7: 41,158,579 (GRCm38)		probably benign	Het
Gm7367	A	T	7: 60,155,762 (GRCm38)		noncoding transcript	Het
Grid2	T	A	6: 64,094,432 (GRCm38)	V413D	possibly damaging	Het
Hgf	C	T	5: 16,610,124 (GRCm38)	P471L	probably damaging	Het
Hoxc9	T	C	15: 102,981,881 (GRCm38)	Y77H	possibly damaging	Het
Hs6st3	C	T	14: 119,138,787 (GRCm38)	R125*	probably null	Het
Kdm4b	T	C	17: 56,351,700 (GRCm38)	I15T	possibly damaging	Het
Klhl1	T	C	14: 96,518,040 (GRCm38)	N93S	probably benign	Het
Klhl6	G	A	16: 19,957,218 (GRCm38)	Q197*	probably null	Het
Medag	T	C	5: 149,422,217 (GRCm38)	V7A	probably benign	Het
Mptx2	G	A	1: 173,274,847 (GRCm38)	L92F	probably benign	Het
Nckap5	C	T	1: 125,976,925 (GRCm38)		probably null	Het
Obscn	T	C	11: 59,133,194 (GRCm38)	K550R	probably benign	Het
Olfr1369-ps1	T	A	13: 21,116,001 (GRCm38)	V103E	probably damaging	Het
Olfr193	T	A	16: 59,109,993 (GRCm38)	I206F	probably damaging	Het
Olfr716	A	G	7: 107,147,541 (GRCm38)	N75S	probably benign	Het
Olfr8	T	C	10: 78,955,484 (GRCm38)	I93T	probably damaging	Het
Parp6	T	C	9: 59,624,727 (GRCm38)	S101P	probably damaging	Het
Plcd3	T	C	11: 103,073,763 (GRCm38)	N594S	probably benign	Het
Plscr5	A	T	9: 92,205,511 (GRCm38)	K178*	probably null	Het
Ppp2r1b	T	C	9: 50,878,157 (GRCm38)	Y443H	probably damaging	Het
Pqlc2	C	T	4: 139,300,254 (GRCm38)	S259N	probably damaging	Het
Prnd	G	A	2: 131,953,343 (GRCm38)	V128I	probably benign	Het
Rftn1	G	T	17: 50,002,669 (GRCm38)	P156Q	probably damaging	Het
Scmh1	T	C	4: 120,516,946 (GRCm38)	V445A	probably benign	Het
Serpinb6c	A	T	13: 33,899,308 (GRCm38)	M41K	probably damaging	Het
Spns1	A	G	7: 126,372,469 (GRCm38)	V303A	possibly damaging	Het
Ston1	T	A	17: 88,644,339 (GRCm38)	S639R	probably damaging	Het
Thbs4	T	C	13: 92,776,953 (GRCm38)	D153G	probably benign	Het
Timm44	T	C	8: 4,274,171 (GRCm38)	Y36C	probably damaging	Het
Trim34b	G	T	7: 104,336,411 (GRCm38)	V418F	probably damaging	Het
Vmn1r72	C	T	7: 11,670,423 (GRCm38)	V33M	probably damaging	Het
Zcchc7	T	C	4: 44,931,084 (GRCm38)	V412A	probably benign	Het
Zfand1	T	A	3: 10,341,019 (GRCm38)	N210I	probably damaging	Het
Zfhx3	A	G	8: 108,933,867 (GRCm38)	H1251R	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
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
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'- TCTTCGGTTGTAAACACAGAACTG -3'
(R):5'- GGGAACTTGACCCAATGTGTATAAAG -3'

Sequencing Primer
(F):5'- TTGTAAACACAGAACTGCAGAAG -3'
(R):5'- ACCCAATGTGTATAAAGAAGATTGTG -3'

Posted On

2017-01-03