Mutagenetix > Incidental Mutations

Incidental Mutation 'R5767:C2'

446351

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000024371

Gene Name

complement component 2 (within H-2S)

Synonyms

classical-complement pathway C3/C5 convertase

MMRRC Submission

043367-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R5767 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34862604-34898265 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34876456 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 171 (N171I)

Ref Sequence

ENSEMBL: ENSMUSP00000025230 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025230] [ENSMUST00000146299] [ENSMUST00000148431] [ENSMUST00000152417] [ENSMUST00000173093]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025230
AA Change: N171I

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000025230
Gene: ENSMUSG00000024371
AA Change: N171I

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

unknown
Transcript: ENSMUST00000146299
AA Change: N109I

SMART Domains

Protein: ENSMUSP00000117677
Gene: ENSMUSG00000092511
AA Change: N109I

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

probably benign
Transcript: ENSMUST00000152417
AA Change: N34I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000123536
Gene: ENSMUSG00000024371
AA Change: N34I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000173093

SMART Domains

Protein: ENSMUSP00000133903
Gene: ENSMUSG00000049823

Domain	Start	End	E-Value	Type
Pfam:BTB	23	68	2e-13	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

98% (52/53)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr6	A	T	10: 89,726,755	D87E	probably damaging	Het
AI429214	TCCCTGATGAAC	TC	8: 36,994,229		probably null	Het
Ano3	A	T	2: 110,661,271	Y887N	probably damaging	Het
Arid4a	A	G	12: 71,060,093	D313G	probably damaging	Het
Armc2	A	G	10: 42,011,927	V20A	probably benign	Het
Cdh1	C	A	8: 106,668,555	N865K	probably damaging	Het
Cep89	T	A	7: 35,417,645	V224E	probably damaging	Het
Dennd2d	C	T	3: 106,487,815		probably benign	Het
Diaph1	T	A	18: 37,853,355	K1157N	probably damaging	Het
Dsg4	T	A	18: 20,462,492	L584*	probably null	Het
Exoc4	G	A	6: 33,918,432	A795T	probably benign	Het
Fbln5	A	T	12: 101,765,209	I242N	probably damaging	Het
Gls2	A	G	10: 128,205,221	H394R	probably damaging	Het
Gm27013	C	T	6: 130,675,958	C847Y	possibly damaging	Het
Ifna5	C	A	4: 88,835,799	T92K	possibly damaging	Het
Ireb2	A	G	9: 54,900,516	M674V	probably benign	Het
Itga2	C	T	13: 114,839,570	V1089M	possibly damaging	Het
Kctd16	A	T	18: 40,258,869	Y170F	probably benign	Het
Kif15	A	G	9: 123,013,974	N45D	possibly damaging	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Mink1	A	G	11: 70,606,075	K420E	possibly damaging	Het
Ms4a14	G	T	19: 11,302,027	Q1056K	probably benign	Het
Olfr1053	T	A	2: 86,314,398	E296V	probably damaging	Het
Olfr175-ps1	T	C	16: 58,823,953	Y252C	probably benign	Het
Olfr738	T	C	14: 50,413,778	V78A	possibly damaging	Het
Ovch2	T	C	7: 107,781,978	E571G	probably benign	Het
Pmel	T	C	10: 128,714,381	V95A	probably damaging	Het
Ptger2	G	T	14: 44,989,142	G60C	probably benign	Het
Ranbp2	T	G	10: 58,476,825	S1122R	probably benign	Het
Rasal2	T	C	1: 157,176,162	D309G	probably damaging	Het
Rcc2	T	A	4: 140,715,919	C303S	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Serpini1	C	T	3: 75,613,081		probably benign	Het
Sgo2a	G	T	1: 58,019,660	E1133*	probably null	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Smarcc1	G	A	9: 110,132,183		probably benign	Het
Tbcd	A	G	11: 121,592,692	E749G	probably benign	Het
Tmc3	G	A	7: 83,599,982	A260T	probably benign	Het
Tnfrsf21	A	G	17: 43,037,659	Y54C	probably damaging	Het
Uhrf1bp1l	A	G	10: 89,787,199	D312G	possibly damaging	Het
Urb1	T	A	16: 90,776,163	M994L	probably benign	Het
Usp14	A	T	18: 10,009,935		probably benign	Het
Vps13a	T	C	19: 16,664,564	Y2233C	probably damaging	Het
Wdr66	G	A	5: 123,298,521	V1038I	probably benign	Het
Wnt2	G	T	6: 17,990,028	A290E	probably damaging	Het
Zc3h8	A	T	2: 128,930,892	C225*	probably null	Het

Other mutations in C2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02191:C2	APN	17	34866563	missense	probably damaging	1.00
IGL02249:C2	APN	17	34864508	unclassified	probably benign
IGL02568:C2	APN	17	34864349	missense	possibly damaging	0.50
IGL03013:C2	APN	17	34872459	missense	probably damaging	0.98
R0142:C2	UTSW	17	34873528	missense	possibly damaging	0.53
R0619:C2	UTSW	17	34872503	missense	probably damaging	1.00
R1401:C2	UTSW	17	34872481	missense	possibly damaging	0.71
R1639:C2	UTSW	17	34872403	missense	probably benign	0.02
R1808:C2	UTSW	17	34864532	missense	probably damaging	1.00
R2133:C2	UTSW	17	34879902	missense	probably damaging	1.00
R2860:C2	UTSW	17	34863878	missense	possibly damaging	0.94
R2861:C2	UTSW	17	34863878	missense	possibly damaging	0.94
R3882:C2	UTSW	17	34873489	missense	probably benign	0.00
R4571:C2	UTSW	17	34863659	missense	probably benign	0.00
R4622:C2	UTSW	17	34863674	missense	probably damaging	0.99
R5611:C2	UTSW	17	34872384	missense	probably damaging	0.99
R6327:C2	UTSW	17	34864103	missense	probably benign	0.41
R6448:C2	UTSW	17	34863359	missense	possibly damaging	0.67
R6518:C2	UTSW	17	34864118	missense	probably damaging	1.00
R6929:C2	UTSW	17	34864347	missense	possibly damaging	0.68
R7324:C2	UTSW	17	34881688	missense	probably benign	0.13
R7446:C2	UTSW	17	34876010	missense	probably damaging	1.00
R7456:C2	UTSW	17	34864582	missense	probably damaging	1.00
R7479:C2	UTSW	17	34863465	missense	probably damaging	1.00
R7807:C2	UTSW	17	34876371	missense	possibly damaging	0.79
R7943:C2	UTSW	17	34872378	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTACATCCTCAGGGAAGTC -3'
(R):5'- TCTCCAGCCTGATGGTTCTG -3'

Sequencing Primer
(F):5'- CTACATCCTCAGGGAAGTCGTAAG -3'
(R):5'- GGTGGCTTAGGGGGTCTAGAATAAG -3'

Posted On

2016-11-21