Mutagenetix > Incidental Mutation

Incidental Mutation 'R9799:Cr2'

735083

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R9799 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

194819119-194859024 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 194842988 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 218 (H218L)

Ref Sequence

ENSEMBL: ENSMUSP00000080938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082321] [ENSMUST00000193356] [ENSMUST00000193801] [ENSMUST00000195120] [ENSMUST00000210219]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000082321
AA Change: H218L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000080938
Gene: ENSMUSG00000026616
AA Change: H218L

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

probably benign
Transcript: ENSMUST00000195120
AA Change: H218L

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000141538
Gene: ENSMUSG00000026616
AA Change: H218L

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: H594L

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.7%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,132,998 (GRCm39)	Y1309C	probably benign	Het
Adcy2	T	C	13: 68,768,961 (GRCm39)	T1056A	probably benign	Het
Adcy2	T	A	13: 68,805,489 (GRCm39)	R826S	probably damaging	Het
Agxt	T	C	1: 93,063,070 (GRCm39)	W19R	probably benign	Het
Akr1b8	G	A	6: 34,333,278 (GRCm39)	E52K	possibly damaging	Het
Arhgef10	T	C	8: 14,990,268 (GRCm39)	Y248H	probably damaging	Het
Arhgef38	T	C	3: 132,855,391 (GRCm39)	D232G	unknown	Het
Arid4b	T	C	13: 14,358,967 (GRCm39)	S668P	probably benign	Het
Ccdc136	T	A	6: 29,417,505 (GRCm39)	S775R	probably damaging	Het
Ccl25	T	C	8: 4,377,799 (GRCm39)	F20L	unknown	Het
Cimap1a	A	T	7: 140,430,706 (GRCm39)	E254D	probably benign	Het
Csnka2ip	T	C	16: 64,298,672 (GRCm39)	K564R	unknown	Het
Cyp2r1	A	G	7: 114,151,207 (GRCm39)	F371L	probably benign	Het
Ddx50	A	T	10: 62,469,812 (GRCm39)	F392I	probably damaging	Het
Dnah7a	T	C	1: 53,557,968 (GRCm39)	T2149A	probably benign	Het
Emx2	A	G	19: 59,448,036 (GRCm39)	Y130C	possibly damaging	Het
Erbin	T	C	13: 103,971,384 (GRCm39)	D744G	probably benign	Het
Gcm2	T	C	13: 41,258,924 (GRCm39)	N140S	probably damaging	Het
Gnai2	C	T	9: 107,512,380 (GRCm39)	A13T	probably benign	Het
Gpr150	T	C	13: 76,204,636 (GRCm39)	Y103C	possibly damaging	Het
Gstp2	A	G	19: 4,091,901 (GRCm39)		probably null	Het
Kdr	A	G	5: 76,117,752 (GRCm39)	I667T	possibly damaging	Het
Lpin1	A	G	12: 16,612,400 (GRCm39)	I534T		Het
Lrrtm3	T	A	10: 63,925,749 (GRCm39)		probably benign	Het
Meiob	C	T	17: 25,042,574 (GRCm39)	T134I	probably benign	Het
Msh2	G	T	17: 88,024,933 (GRCm39)	A604S	probably damaging	Het
Mterf3	T	C	13: 67,062,780 (GRCm39)	T319A	possibly damaging	Het
Myo3a	C	T	2: 22,490,181 (GRCm39)	T1514I	probably damaging	Het
Ndfip2	T	C	14: 105,496,400 (GRCm39)	M98T	possibly damaging	Het
Nfatc2ip	A	G	7: 125,989,739 (GRCm39)	V215A	probably damaging	Het
Or52e19	A	T	7: 102,959,065 (GRCm39)	T46S	probably damaging	Het
Or8k41	A	T	2: 86,313,732 (GRCm39)	M118K	probably damaging	Het
Pabpc6	C	T	17: 9,888,114 (GRCm39)	E146K	probably damaging	Het
Pde3b	A	G	7: 114,122,613 (GRCm39)	Y727C	probably damaging	Het
Pemt	A	G	11: 59,937,174 (GRCm39)	F30L	possibly damaging	Het
Plch1	A	G	3: 63,605,591 (GRCm39)	S1438P	possibly damaging	Het
Pnma2	T	A	14: 67,154,009 (GRCm39)	H144Q	probably benign	Het
Ppp1r14b	A	G	19: 6,952,825 (GRCm39)	N70S	possibly damaging	Het
Psmd1	T	A	1: 86,054,236 (GRCm39)	M725K	possibly damaging	Het
Rab3gap1	A	G	1: 127,858,489 (GRCm39)	K533E	probably benign	Het
Rb1cc1	C	A	1: 6,315,126 (GRCm39)	H426Q	probably damaging	Het
Rimbp3	A	G	16: 17,027,641 (GRCm39)	E355G	possibly damaging	Het
Rxfp1	A	G	3: 79,578,182 (GRCm39)	F170L	probably damaging	Het
Sema3f	G	T	9: 107,562,562 (GRCm39)	A473E	probably damaging	Het
Serpinb3a	T	G	1: 106,974,892 (GRCm39)	I214L	probably benign	Het
Siglec1	G	T	2: 130,915,941 (GRCm39)	P1307Q	probably damaging	Het
Srd5a2	A	C	17: 74,331,535 (GRCm39)	I154S	possibly damaging	Het
Sugp1	A	G	8: 70,523,068 (GRCm39)	E537G	probably damaging	Het
Tbc1d30	T	C	10: 121,142,074 (GRCm39)	E91G	possibly damaging	Het
Tiparp	A	T	3: 65,454,973 (GRCm39)	N373Y	probably benign	Het
Tmem217	A	C	17: 29,745,232 (GRCm39)	I166S	probably damaging	Het
Top1	T	A	2: 160,563,406 (GRCm39)	Y746N	probably damaging	Het
Tubb2a	C	T	13: 34,260,607 (GRCm39)	D31N	probably benign	Het
Utrn	T	G	10: 12,585,736 (GRCm39)	I1014L	probably benign	Het
Vtn	T	C	11: 78,392,625 (GRCm39)	I401T	probably benign	Het
Wwc2	G	T	8: 48,321,595 (GRCm39)	H506Q	unknown	Het
Xab2	G	T	8: 3,668,182 (GRCm39)	T132N	probably benign	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
R6720:Cr2	UTSW	1	194,837,508 (GRCm39)	missense	probably damaging	0.97
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
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'- GATTCCAGGCTTATCCATGCTC -3'
(R):5'- AGCATGTTGACCAGTTTGTTGC -3'

Sequencing Primer
(F):5'- CTTTCTGTAGGCATCATGGTTCACAG -3'
(R):5'- TGACATACAGTTGTGAACCTGGC -3'

Posted On

2022-11-14