Mutagenetix > Incidental Mutation

Incidental Mutation 'R0142:C2'

22408

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000024371

Gene Name

complement C2

Synonyms

classical-complement pathway C3/C5 convertase

MMRRC Submission

038427-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R0142 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35081578-35101076 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35092504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 178 (I178F)

Ref Sequence

ENSEMBL: ENSMUSP00000123536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025230] [ENSMUST00000146299] [ENSMUST00000148431] [ENSMUST00000152417]

AlphaFold

P21180

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025230
AA Change: I315F

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000025230
Gene: ENSMUSG00000024371
AA Change: I315F

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Blast:CCP	22	71	8e-24	BLAST
low complexity region	72	83	N/A	INTRINSIC
CCP	94	149	1.34e-11	SMART
CCP	156	210	1.89e-11	SMART
Blast:VWA	219	245	1e-7	BLAST
VWA	259	464	1.32e-31	SMART
Tryp_SPc	468	747	4.43e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129891

SMART Domains

Protein: ENSMUSP00000120864
Gene: ENSMUSG00000092511

Domain	Start	End	E-Value	Type
Blast:VWA	2	77	8e-7	BLAST
Tryp_SPc	85	365	5.69e-8	SMART
CCP	310	365	4.62e-15	SMART
CCP	372	425	2.06e-12	SMART
VWA	475	680	1.07e-40	SMART
Tryp_SPc	688	959	2.53e-30	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130728

Predicted Effect

probably benign
Transcript: ENSMUST00000146299

SMART Domains

Protein: ENSMUSP00000117677
Gene: ENSMUSG00000092511

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	72	83	N/A	INTRINSIC
CCP	94	148	1.89e-11	SMART
VWA	103	311	1.74e-1	SMART
Tryp_SPc	315	547	1.49e-7	SMART
CCP	549	601	5.15e-1	SMART
CCP	615	670	4.62e-15	SMART
CCP	677	730	2.06e-12	SMART
VWA	780	985	1.07e-40	SMART
Tryp_SPc	993	1264	2.53e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148431

SMART Domains

Protein: ENSMUSP00000120009
Gene: ENSMUSG00000024371

Domain	Start	End	E-Value	Type
VWA	33	187	2.33e0	SMART
Tryp_SPc	191	470	4.43e-26	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152417
AA Change: I178F

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123536
Gene: ENSMUSG00000024371
AA Change: I178F

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
CCP	19	73	1.89e-11	SMART
Blast:VWA	82	108	2e-7	BLAST
VWA	122	327	1.32e-31	SMART
Tryp_SPc	331	610	4.43e-26	SMART

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.6%

Validation Efficiency

92% (61/66)

MGI Phenotype

FUNCTION: This gene encodes component C2 of the classical pathway of the complement system. The encoded protein undergoes proteolytic processing mediated by component C1 resulting in C2a and C2b fragments. C2a fragment, in turn, selectively cleaves components C3 and C5 of the complement system. Mice lacking the encoded protein are found to be more susceptible to bacterial infections. Mutations in the human homolog of this gene are associated with disorders such as systemic lupus erythematosus, Henoch-Schonlein purpura, or polymyositis. [provided by RefSeq, Mar 2015]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	G	11: 110,079,467 (GRCm39)	D1229A	probably damaging	Het
Abhd8	A	C	8: 71,914,506 (GRCm39)	F41V	probably damaging	Het
Ago4	T	G	4: 126,410,725 (GRCm39)	E222A	probably benign	Het
Ap3b2	T	C	7: 81,122,828 (GRCm39)	I470V	probably damaging	Het
Bcl9l	C	T	9: 44,418,409 (GRCm39)	T749M	probably benign	Het
Bicc1	T	C	10: 70,761,200 (GRCm39)	K937E	probably damaging	Het
Bmi1	G	A	2: 18,688,095 (GRCm39)		probably null	Het
Boc	A	C	16: 44,310,604 (GRCm39)	I772S	probably damaging	Het
Brd10	A	G	19: 29,695,654 (GRCm39)	S1347P	possibly damaging	Het
Cacna1c	G	T	6: 118,580,843 (GRCm39)	A1416E	probably damaging	Het
Chst10	A	G	1: 38,910,810 (GRCm39)	L118P	probably damaging	Het
Crybg1	G	A	10: 43,875,059 (GRCm39)	T683I	possibly damaging	Het
Cul5	C	T	9: 53,546,350 (GRCm39)	V314I	probably damaging	Het
Dnajc17	C	A	2: 119,010,415 (GRCm39)	R211I	probably benign	Het
Emilin1	A	G	5: 31,071,264 (GRCm39)	T16A	probably benign	Het
Ercc6l2	A	C	13: 64,020,320 (GRCm39)		probably benign	Het
Fsd2	T	A	7: 81,209,683 (GRCm39)	D53V	probably damaging	Het
Galnt13	A	G	2: 54,988,615 (GRCm39)	D479G	probably damaging	Het
Grk3	A	T	5: 113,062,919 (GRCm39)	W643R	probably damaging	Het
Hdgf	G	A	3: 87,820,416 (GRCm39)	A4T	possibly damaging	Het
Hnrnpr	T	A	4: 136,054,593 (GRCm39)	V182E	probably damaging	Het
Ipo13	A	C	4: 117,762,766 (GRCm39)	L279R	probably damaging	Het
Itga9	C	A	9: 118,465,654 (GRCm39)	N169K	probably damaging	Het
Jph3	A	G	8: 122,480,110 (GRCm39)	T263A	possibly damaging	Het
Jph4	G	T	14: 55,345,783 (GRCm39)	Q625K	probably benign	Het
Kctd3	A	C	1: 188,728,595 (GRCm39)		probably null	Het
Kif26b	A	T	1: 178,742,954 (GRCm39)	S570C	probably damaging	Het
Klhl5	G	A	5: 65,300,693 (GRCm39)	W164*	probably null	Het
Lacc1	A	T	14: 77,268,239 (GRCm39)	H357Q	probably benign	Het
Lama2	A	G	10: 27,063,841 (GRCm39)	I1316T	probably benign	Het
Lcp2	C	T	11: 34,032,418 (GRCm39)	P332L	probably damaging	Het
Map3k6	A	T	4: 132,978,257 (GRCm39)	H1033L	probably benign	Het
Mfsd2b	A	G	12: 4,916,234 (GRCm39)	V252A	probably benign	Het
Myo16	T	A	8: 10,619,790 (GRCm39)	I1447N	probably benign	Het
Myo19	G	A	11: 84,785,429 (GRCm39)	R224H	probably damaging	Het
Myo5a	C	T	9: 75,067,856 (GRCm39)	H637Y	probably benign	Het
Nek10	C	T	14: 14,861,560 (GRCm38)	R539C	possibly damaging	Het
Nfix	A	T	8: 85,448,315 (GRCm39)	V404E	probably damaging	Het
Nr1i2	T	C	16: 38,073,368 (GRCm39)	R203G	probably benign	Het
Nup210l	G	A	3: 90,079,420 (GRCm39)	G968D	probably damaging	Het
Or10q1	A	T	19: 13,726,619 (GRCm39)	I50F	probably benign	Het
Or2ag15	G	T	7: 106,340,972 (GRCm39)	H56Q	probably benign	Het
Or8b37	A	T	9: 37,959,406 (GRCm39)	H296L	probably benign	Het
Phlpp2	C	T	8: 110,634,145 (GRCm39)	R242W	probably damaging	Het
Plcz1	A	G	6: 139,953,423 (GRCm39)	F398S	probably damaging	Het
Ppfibp2	C	A	7: 107,343,384 (GRCm39)	P808T	probably damaging	Het
Srpk2	T	C	5: 23,732,928 (GRCm39)	K239E	probably damaging	Het
Svep1	A	G	4: 58,118,232 (GRCm39)	V830A	probably benign	Het
Tesc	A	T	5: 118,194,635 (GRCm39)	I149F	possibly damaging	Het
Thsd7a	A	G	6: 12,418,334 (GRCm39)	W632R	probably damaging	Het
Tmprss9	A	G	10: 80,730,212 (GRCm39)	D704G	possibly damaging	Het
Tob1	T	C	11: 94,105,423 (GRCm39)	Y320H	probably damaging	Het
Trpm3	G	T	19: 22,965,280 (GRCm39)	D1582Y	probably damaging	Het
Ttc28	A	G	5: 111,425,323 (GRCm39)	K1716R	probably benign	Het
Uqcrfs1	A	G	13: 30,724,925 (GRCm39)	V205A	probably benign	Het
Usp29	G	A	7: 6,965,334 (GRCm39)	M392I	probably benign	Het
Uspl1	A	T	5: 149,125,159 (GRCm39)	Y22F	possibly damaging	Het
Virma	C	A	4: 11,548,783 (GRCm39)	N1780K	probably benign	Het
Vmn1r56	C	T	7: 5,199,372 (GRCm39)	A82T	probably benign	Het
Vmn2r5	A	T	3: 64,400,009 (GRCm39)	C553S	probably damaging	Het
Vwce	A	T	19: 10,641,976 (GRCm39)	R901W	probably damaging	Het
Wdpcp	C	A	11: 21,807,444 (GRCm39)		probably null	Het
Zfp423	A	T	8: 88,506,968 (GRCm39)	C1000*	probably null	Het
Zscan20	A	G	4: 128,479,630 (GRCm39)	F954L	probably benign	Het

Other mutations in C2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02191:C2	APN	17	35,085,539 (GRCm39)	missense	probably damaging	1.00
IGL02249:C2	APN	17	35,083,484 (GRCm39)	unclassified	probably benign
IGL02568:C2	APN	17	35,083,325 (GRCm39)	missense	possibly damaging	0.50
IGL03013:C2	APN	17	35,091,435 (GRCm39)	missense	probably damaging	0.98
R0619:C2	UTSW	17	35,091,479 (GRCm39)	missense	probably damaging	1.00
R1401:C2	UTSW	17	35,091,457 (GRCm39)	missense	possibly damaging	0.71
R1639:C2	UTSW	17	35,091,379 (GRCm39)	missense	probably benign	0.02
R1808:C2	UTSW	17	35,083,508 (GRCm39)	missense	probably damaging	1.00
R2133:C2	UTSW	17	35,098,878 (GRCm39)	missense	probably damaging	1.00
R2860:C2	UTSW	17	35,082,854 (GRCm39)	missense	possibly damaging	0.94
R2861:C2	UTSW	17	35,082,854 (GRCm39)	missense	possibly damaging	0.94
R3882:C2	UTSW	17	35,092,465 (GRCm39)	missense	probably benign	0.00
R4571:C2	UTSW	17	35,082,635 (GRCm39)	missense	probably benign	0.00
R4622:C2	UTSW	17	35,082,650 (GRCm39)	missense	probably damaging	0.99
R5611:C2	UTSW	17	35,091,360 (GRCm39)	missense	probably damaging	0.99
R5767:C2	UTSW	17	35,095,432 (GRCm39)	missense	possibly damaging	0.58
R6327:C2	UTSW	17	35,083,079 (GRCm39)	missense	probably benign	0.41
R6448:C2	UTSW	17	35,082,335 (GRCm39)	missense	possibly damaging	0.67
R6518:C2	UTSW	17	35,083,094 (GRCm39)	missense	probably damaging	1.00
R6929:C2	UTSW	17	35,083,323 (GRCm39)	missense	possibly damaging	0.68
R7324:C2	UTSW	17	35,100,664 (GRCm39)	missense	probably benign	0.13
R7446:C2	UTSW	17	35,094,986 (GRCm39)	missense	probably damaging	1.00
R7456:C2	UTSW	17	35,083,558 (GRCm39)	missense	probably damaging	1.00
R7479:C2	UTSW	17	35,082,441 (GRCm39)	missense	probably damaging	1.00
R7807:C2	UTSW	17	35,095,347 (GRCm39)	missense	possibly damaging	0.79
R7943:C2	UTSW	17	35,091,354 (GRCm39)	missense	probably damaging	1.00
R9235:C2	UTSW	17	35,083,845 (GRCm39)	missense	probably damaging	1.00
R9397:C2	UTSW	17	35,094,965 (GRCm39)	missense	probably damaging	1.00
R9452:C2	UTSW	17	35,095,319 (GRCm39)	missense	probably benign	0.01
R9605:C2	UTSW	17	35,081,958 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- GGAAACTGGAATCCTACTGATGCCC -3'
(R):5'- TTCAAGGCTGCTCTCCTCACGAAG -3'

Sequencing Primer
(F):5'- tctctccctccctccctc -3'
(R):5'- GGGTCTTTCCTGTCAGGTTCAG -3'

Posted On

2013-04-16