Mutagenetix > Incidental Mutation

Incidental Mutation 'R7943:C2'

649193

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000024371

Gene Name

complement C2

Synonyms

classical-complement pathway C3/C5 convertase

MMRRC Submission

045989-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R7943 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35081578-35101076 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35091354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 380 (L380P)

Ref Sequence

ENSEMBL: ENSMUSP00000025230 (fasta)

Gene Model

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

AlphaFold

P21180

Predicted Effect

probably damaging
Transcript: ENSMUST00000025230
AA Change: L380P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025230
Gene: ENSMUSG00000024371
AA Change: L380P

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

SMART Domains

Protein: ENSMUSP00000120864
Gene: ENSMUSG00000092511
AA Change: L43P

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

unknown
Transcript: ENSMUST00000146299
AA Change: L227P

SMART Domains

Protein: ENSMUSP00000117677
Gene: ENSMUSG00000092511
AA Change: L227P

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 damaging
Transcript: ENSMUST00000148431
AA Change: L103P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120009
Gene: ENSMUSG00000024371
AA Change: L103P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000152417
AA Change: L243P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123536
Gene: ENSMUSG00000024371
AA Change: L243P

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

0.8190

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (68/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	C	T	5: 8,736,222 (GRCm39)	T205I	probably benign	Het
Acsbg1	T	C	9: 54,530,021 (GRCm39)	H225R	probably damaging	Het
Anks1	T	A	17: 28,204,178 (GRCm39)	Y209N	probably damaging	Het
Appl1	T	A	14: 26,667,525 (GRCm39)	I377L	probably benign	Het
Arl9	A	T	5: 77,158,395 (GRCm39)	D159V	probably damaging	Het
Arsa	A	C	15: 89,358,292 (GRCm39)	L339R	probably damaging	Het
Ccdc13	A	G	9: 121,628,196 (GRCm39)	C97R	unknown	Het
Ccdc74a	A	G	16: 17,468,416 (GRCm39)	H346R	probably benign	Het
Ccnl1	T	C	3: 65,864,326 (GRCm39)	I152V	probably benign	Het
Cd4	C	T	6: 124,847,207 (GRCm39)		probably null	Het
Ceacam5	A	T	7: 17,479,491 (GRCm39)	I203L	probably benign	Het
Ckap2	C	A	8: 22,665,090 (GRCm39)	R458L	probably damaging	Het
Cldn10	T	C	14: 119,099,271 (GRCm39)		probably null	Het
Col27a1	C	T	4: 63,236,520 (GRCm39)	R1377C	unknown	Het
Cry1	A	T	10: 84,978,984 (GRCm39)	M514K	probably benign	Het
Crybg2	T	G	4: 133,800,295 (GRCm39)	V176G	probably damaging	Het
Cyp2j5	C	T	4: 96,547,849 (GRCm39)	G131D	possibly damaging	Het
Ddx46	A	G	13: 55,817,535 (GRCm39)	Y720C	probably damaging	Het
Dock10	A	T	1: 80,626,006 (GRCm39)	V44D	probably damaging	Het
Eif1ad8	C	T	12: 87,563,773 (GRCm39)	A36V	probably damaging	Het
Enam	A	T	5: 88,636,410 (GRCm39)		probably null	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fam184a	C	T	10: 53,523,137 (GRCm39)	A956T	probably damaging	Het
Fbxw10	A	T	11: 62,741,487 (GRCm39)	R202*	probably null	Het
Fnip1	A	G	11: 54,393,214 (GRCm39)	E550G	probably damaging	Het
Gpr149	A	G	3: 62,438,132 (GRCm39)	L675P	probably damaging	Het
Hivep3	T	C	4: 119,989,554 (GRCm39)	Y2002H	probably benign	Het
Hp	A	G	8: 110,302,187 (GRCm39)	Y254H	probably damaging	Het
Ighg1	G	T	12: 113,293,957 (GRCm39)	T62N		Het
Jcad	A	G	18: 4,672,700 (GRCm39)	E154G	probably damaging	Het
Kmt2a	A	G	9: 44,760,437 (GRCm39)	S471P	probably damaging	Het
Med13	A	G	11: 86,169,352 (GRCm39)	V1968A	probably damaging	Het
Mknk2	T	A	10: 80,511,701 (GRCm39)	Q3L	probably benign	Het
Nup98	G	A	7: 101,844,029 (GRCm39)	T65I	probably benign	Het
Or10p21	T	A	10: 128,847,934 (GRCm39)	M260K	possibly damaging	Het
Or51f1e	G	A	7: 102,747,153 (GRCm39)	M68I	probably damaging	Het
Or5m11	A	G	2: 85,782,342 (GRCm39)	T312A	probably benign	Het
Or9i14	A	T	19: 13,792,600 (GRCm39)	M118K	probably damaging	Het
Pcdhgb4	C	T	18: 37,855,063 (GRCm39)	T486I	probably benign	Het
Perm1	T	A	4: 156,302,991 (GRCm39)	F512I	probably damaging	Het
Pgap3	A	T	11: 98,281,227 (GRCm39)	L262Q	probably damaging	Het
Pklr	A	C	3: 89,048,814 (GRCm39)	Y126S	probably damaging	Het
Ppl	C	T	16: 4,906,725 (GRCm39)	R1190H	probably damaging	Het
Ppm1k	T	C	6: 57,501,813 (GRCm39)	T117A	probably benign	Het
Prkd2	G	A	7: 16,584,244 (GRCm39)	E366K	probably benign	Het
Psd	C	A	19: 46,313,169 (GRCm39)	C67F	possibly damaging	Het
Ptpra	T	A	2: 30,322,056 (GRCm39)	F100L	probably damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rock1	T	C	18: 10,112,357 (GRCm39)	E466G	probably damaging	Het
Sec16b	A	T	1: 157,382,327 (GRCm39)	M588L	probably benign	Het
Serpina1f	T	A	12: 103,659,949 (GRCm39)	H111L	probably damaging	Het
Sf3a1	T	C	11: 4,116,537 (GRCm39)	I76T	possibly damaging	Het
Shcbp1	A	T	8: 4,798,812 (GRCm39)	L369Q	possibly damaging	Het
Spef2	A	G	15: 9,601,171 (GRCm39)	M1697T	unknown	Het
St7	G	A	6: 17,844,911 (GRCm39)	C133Y	probably damaging	Het
Tdpoz6	A	T	3: 93,600,070 (GRCm39)	C100S	probably benign	Het
Tex19.1	T	A	11: 121,037,986 (GRCm39)	W115R	possibly damaging	Het
Tfrc	T	A	16: 32,449,039 (GRCm39)	I726N	probably benign	Het
Thbs1	A	G	2: 117,950,098 (GRCm39)		probably null	Het
Trim43a	C	T	9: 88,464,238 (GRCm39)	P50S	probably benign	Het
Trpm4	A	T	7: 44,958,105 (GRCm39)	V935E	probably damaging	Het
Ttc12	A	T	9: 49,381,620 (GRCm39)	V117D	possibly damaging	Het
Ulbp1	T	C	10: 7,407,053 (GRCm39)	T82A	probably damaging	Het
Usp13	C	T	3: 32,931,089 (GRCm39)	H288Y	probably damaging	Het
Vmn2r82	A	G	10: 79,232,079 (GRCm39)	K693E	possibly damaging	Het
Vmn2r90	A	G	17: 17,932,566 (GRCm39)	T158A	probably damaging	Het
Vps8	A	G	16: 21,296,622 (GRCm39)	K540R	possibly damaging	Het
Zfp143	T	A	7: 109,671,681 (GRCm39)		probably null	Het
Zfp709	G	T	8: 72,643,933 (GRCm39)	C454F	probably damaging	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
R0142:C2	UTSW	17	35,092,504 (GRCm39)	missense	possibly damaging	0.53
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
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'- GGTCTACACAGTGAGTTGCAGG -3'
(R):5'- GTTTCCCATTCCCAGGTGAC -3'

Sequencing Primer
(F):5'- TGCAGGCCAGAGAAACCTTGTATAC -3'
(R):5'- ACAGGGAGAGCGTTTTTGTTTTCAAG -3'

Posted On

2020-09-15