Mutagenetix > Incidental Mutation

Incidental Mutation 'R1401:C2'

160167

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

039463-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R1401 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34862604-34898265 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34872481 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 69 (T69A)

Ref Sequence

ENSEMBL: ENSMUSP00000120009 (fasta)

Gene Model

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

AlphaFold

P21180

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025230
AA Change: T346A

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000025230
Gene: ENSMUSG00000024371
AA Change: T346A

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

unknown
Transcript: ENSMUST00000129891
AA Change: T9A

SMART Domains

Protein: ENSMUSP00000120864
Gene: ENSMUSG00000092511
AA Change: T9A

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: T193A

SMART Domains

Protein: ENSMUSP00000117677
Gene: ENSMUSG00000092511
AA Change: T193A

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

possibly damaging
Transcript: ENSMUST00000148431
AA Change: T69A

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000120009
Gene: ENSMUSG00000024371
AA Change: T69A

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: T209A

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000123536
Gene: ENSMUSG00000024371
AA Change: T209A

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

Meta Mutation Damage Score

0.3536

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.4%

Validation Efficiency

98% (87/89)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,993,056	T141S	probably benign	Het
Abcg1	T	A	17: 31,114,158	I625N	possibly damaging	Het
Adam33	C	A	2: 131,051,471		probably benign	Het
Adgrl2	A	T	3: 148,822,981	I1185N	probably damaging	Het
Afp	A	T	5: 90,501,627		probably benign	Het
Aggf1	A	G	13: 95,364,848	V342A	probably benign	Het
Ankrd11	A	T	8: 122,893,050	S1333R	probably benign	Het
Arhgef11	C	A	3: 87,733,469	S1311*	probably null	Het
Atp6v1g1	T	C	4: 63,548,641	Y47H	probably benign	Het
Atp8b4	T	C	2: 126,323,093		probably null	Het
Barx2	A	G	9: 31,859,031	L67P	probably damaging	Het
Bbs7	G	A	3: 36,573,557	P694S	probably benign	Het
Btbd10	A	T	7: 113,347,059	V33E	probably benign	Het
C8b	T	G	4: 104,784,482	L205R	possibly damaging	Het
Cct4	T	G	11: 22,994,333	N72K	probably damaging	Het
Cd300lg	C	A	11: 102,054,155	P353H	possibly damaging	Het
Cdh20	A	T	1: 104,947,497	I335L	possibly damaging	Het
Cfhr2	T	A	1: 139,811,019	H268L	probably benign	Het
Chia1	T	A	3: 106,128,939	D278E	probably benign	Het
Cntn6	A	G	6: 104,804,398	T482A	possibly damaging	Het
Cst13	T	A	2: 148,823,096	F4I	probably benign	Het
Ctsc	T	A	7: 88,281,498	V95E	probably damaging	Het
Ddhd1	A	T	14: 45,605,051		probably null	Het
Dmxl2	A	T	9: 54,415,428		probably null	Het
Dnah5	A	C	15: 28,401,913	T3407P	probably damaging	Het
Dock1	T	A	7: 135,133,936	Y1344*	probably null	Het
Eif4g3	T	C	4: 138,206,084	V1740A	probably damaging	Het
Epb41l5	A	G	1: 119,578,904		probably benign	Het
Fam159b	A	T	13: 104,863,605	C37S	probably damaging	Het
Flt4	C	T	11: 49,636,339		probably benign	Het
Fnbp1l	C	T	3: 122,546,306	R499Q	probably damaging	Het
Gm12790	A	G	4: 101,968,199	L6P	probably benign	Het
Gramd4	A	G	15: 86,125,196	D210G	probably damaging	Het
Hectd3	T	C	4: 117,002,269	S697P	possibly damaging	Het
Hsf4	T	C	8: 105,275,603	V399A	probably benign	Het
Hyal6	T	A	6: 24,743,435	C377S	probably damaging	Het
Myb	C	T	10: 21,152,945	V85M	probably damaging	Het
Mypn	A	G	10: 63,152,857	V463A	probably damaging	Het
Nav1	T	A	1: 135,460,425	I1144L	probably benign	Het
Nckap5	A	G	1: 126,014,661		probably benign	Het
Nipbl	A	T	15: 8,372,173	S30T	probably damaging	Het
Nmt1	T	C	11: 103,057,481	F277S	probably damaging	Het
Nploc4	A	C	11: 120,383,289		probably benign	Het
Nup54	C	A	5: 92,428,221	R137I	probably damaging	Het
Olfr667	T	C	7: 104,916,756	Y180C	probably damaging	Het
Oxtr	C	T	6: 112,477,177	R42Q	probably benign	Het
Pkd1l1	G	T	11: 8,854,487	Y1701*	probably null	Het
Plekhg6	T	C	6: 125,363,109	T763A	probably damaging	Het
Pmepa1	C	T	2: 173,228,575		probably null	Het
Ppfia2	A	G	10: 106,830,657	E408G	possibly damaging	Het
Pramef12	G	A	4: 144,395,088	T122M	probably benign	Het
Prl8a2	G	A	13: 27,353,996	V218I	possibly damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rims4	C	T	2: 163,863,929	V262M	possibly damaging	Het
RP23-114B10.6	T	C	8: 69,373,370		noncoding transcript	Het
Slc13a1	A	T	6: 24,118,083		probably null	Het
Slc17a8	T	A	10: 89,591,214	T342S	probably damaging	Het
Slc30a9	A	G	5: 67,352,662	E519G	probably benign	Het
Slc35e1	T	C	8: 72,492,571		probably benign	Het
Slc39a5	G	A	10: 128,397,741	L296F	probably damaging	Het
Slco6b1	A	C	1: 96,929,885		noncoding transcript	Het
Slco6d1	G	A	1: 98,490,616	G509D	probably damaging	Het
Spen	A	G	4: 141,471,821	V3142A	probably damaging	Het
Spta1	T	A	1: 174,222,684	H1763Q	probably damaging	Het
Srcap	T	C	7: 127,559,952		probably benign	Het
Stard9	T	C	2: 120,712,847		probably benign	Het
Stat4	A	G	1: 52,071,947		probably benign	Het
Svbp	T	A	4: 119,196,028		probably benign	Het
Tm2d1	A	T	4: 98,370,596		probably benign	Het
Trpv1	C	A	11: 73,240,126		probably null	Het
Trrap	A	G	5: 144,857,422	D3713G	possibly damaging	Het
Ubr1	T	A	2: 120,955,644	D165V	probably benign	Het
Utrn	C	A	10: 12,649,153	M2195I	probably benign	Het
Vmn1r229	G	A	17: 20,814,642	V50I	possibly damaging	Het
Vmn1r44	A	T	6: 89,893,650	H126L	probably benign	Het
Vmn2r116	T	C	17: 23,386,596		probably benign	Het
Vmn2r27	A	C	6: 124,191,632	Y846*	probably null	Het
Vmn2r84	T	A	10: 130,391,990	S126C	possibly damaging	Het
Xylb	T	A	9: 119,368,067		probably benign	Het
Zfp282	A	T	6: 47,890,174	K232*	probably null	Het
Zfp39	C	A	11: 58,890,323	V538L	probably benign	Het
Zfp560	T	C	9: 20,351,853	N76D	possibly damaging	Het
Zmym4	C	T	4: 126,911,169	V433I	probably benign	Het
Zscan5b	A	G	7: 6,230,426	E83G	probably damaging	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
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
R5767:C2	UTSW	17	34876456	missense	possibly damaging	0.58
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
R9235:C2	UTSW	17	34864869	missense	probably damaging	1.00
R9397:C2	UTSW	17	34875989	missense	probably damaging	1.00
R9452:C2	UTSW	17	34876343	missense	probably benign	0.01
R9605:C2	UTSW	17	34862982	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- TCAGAACCTATCCTGGCACTCTGC -3'
(R):5'- AGGTCCACGTTCAAATGCACCTG -3'

Sequencing Primer
(F):5'- GGCACTCTGCCACTGTTG -3'
(R):5'- atcctcctgcctctgcc -3'

Posted On

2014-03-14