Mutagenetix > Incidental Mutation

Incidental Mutation 'R7324:C2'

568785

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000024371

Gene Name

complement C2

Synonyms

classical-complement pathway C3/C5 convertase

MMRRC Submission

045418-MU

Accession Numbers

Essential gene?

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

Stock #

R7324 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35081578-35101076 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35100664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 52 (G52D)

Ref Sequence

ENSEMBL: ENSMUSP00000025230 (fasta)

Gene Model

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

AlphaFold

P21180

Predicted Effect

probably benign
Transcript: ENSMUST00000025230
AA Change: G52D

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000025230
Gene: ENSMUSG00000024371
AA Change: G52D

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 damaging
Transcript: ENSMUST00000146299
AA Change: G52D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117677
Gene: ENSMUSG00000092511
AA Change: G52D

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

SMART Domains

Protein: ENSMUSP00000123536
Gene: ENSMUSG00000024371

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (81/82)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	C	17: 84,983,667 (GRCm39)	D124G	possibly damaging	Het
Ackr3	C	G	1: 90,141,923 (GRCm39)	N127K	probably damaging	Het
AL732309.1	A	C	2: 25,136,151 (GRCm39)	M21R	possibly damaging	Het
Ankrd52	C	A	10: 128,222,032 (GRCm39)	T552K	possibly damaging	Het
Arhgap28	T	C	17: 68,202,879 (GRCm39)		probably null	Het
Arid5b	A	T	10: 67,964,752 (GRCm39)	N306K	probably benign	Het
C1qtnf3	A	C	15: 10,952,707 (GRCm39)	K56N	probably benign	Het
Casz1	C	T	4: 149,031,490 (GRCm39)	T1247M	probably damaging	Het
Cc2d2b	A	G	19: 40,797,552 (GRCm39)	D778G	unknown	Het
Cdh5	A	G	8: 104,869,425 (GRCm39)	D717G	probably damaging	Het
Clca3a2	G	A	3: 144,514,372 (GRCm39)	A445V	probably damaging	Het
Clca3b	T	A	3: 144,547,181 (GRCm39)	M319L	possibly damaging	Het
Csmd1	G	A	8: 16,108,721 (GRCm39)	S1894L	probably damaging	Het
Csnk1g3	A	G	18: 54,052,090 (GRCm39)	T220A	probably damaging	Het
Cyp2d10	T	G	15: 82,287,961 (GRCm39)	T381P	probably damaging	Het
Ddb2	G	A	2: 91,067,229 (GRCm39)		probably benign	Het
Ddx24	C	A	12: 103,382,518 (GRCm39)	L688F	probably damaging	Het
Dennd4c	T	C	4: 86,747,975 (GRCm39)	L1615P	unknown	Het
Dnah8	T	A	17: 31,003,099 (GRCm39)	D3599E	probably benign	Het
Dst	T	C	1: 34,045,305 (GRCm39)	S13P	possibly damaging	Het
Efcab12	T	C	6: 115,800,555 (GRCm39)	D156G	probably benign	Het
Enpp2	A	G	15: 54,741,170 (GRCm39)		probably null	Het
Ephx2	A	G	14: 66,322,803 (GRCm39)	V490A	probably damaging	Het
Etnppl	A	G	3: 130,423,224 (GRCm39)	N308D	probably damaging	Het
F5	TCAGAAGACCTCCTCCCCAGACCTGGGCCAGGTGCCCCTTTCTCCAGATGACAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA	TCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA	1: 164,021,150 (GRCm39)		probably benign	Het
Fam162b	A	T	10: 51,466,282 (GRCm39)		probably null	Het
Fancl	A	G	11: 26,353,362 (GRCm39)	E86G	probably damaging	Het
Flii	G	A	11: 60,609,866 (GRCm39)	T615I	probably benign	Het
Fndc7	G	T	3: 108,779,537 (GRCm39)	Q336K	probably benign	Het
Gm26661	T	C	14: 7,791,911 (GRCm38)	C109R	unknown	Het
H2-DMb1	T	C	17: 34,378,436 (GRCm39)		probably null	Het
H2-T10	C	T	17: 36,430,189 (GRCm39)	G251R	probably damaging	Het
Harbi1	T	C	2: 91,551,044 (GRCm39)	I339T	probably benign	Het
Hsp90aa1	A	G	12: 110,661,659 (GRCm39)	M119T	unknown	Het
Ighe	T	A	12: 113,235,954 (GRCm39)	Y124F		Het
Ighv7-1	T	C	12: 113,860,149 (GRCm39)	Y81C	probably damaging	Het
Ilkap	A	T	1: 91,313,115 (GRCm39)		probably null	Het
Inpp5a	A	G	7: 139,105,586 (GRCm39)	D179G	probably damaging	Het
Itgad	A	T	7: 127,788,979 (GRCm39)	D510V	probably damaging	Het
Kcnn2	A	T	18: 45,693,138 (GRCm39)	H238L	probably benign	Het
Kctd17	T	A	15: 78,319,842 (GRCm39)	C189S	probably damaging	Het
Larp4b	C	A	13: 9,208,616 (GRCm39)	A423E	probably benign	Het
Llgl2	A	G	11: 115,741,556 (GRCm39)	E562G	possibly damaging	Het
Macf1	T	C	4: 123,268,218 (GRCm39)	T6734A	probably benign	Het
Maz	G	A	7: 126,623,765 (GRCm39)	T377M	probably damaging	Het
Mmrn1	G	T	6: 60,921,917 (GRCm39)	G125*	probably null	Het
Mvp	A	G	7: 126,592,781 (GRCm39)	S377P	probably benign	Het
Nin	C	T	12: 70,090,508 (GRCm39)	R969Q		Het
Nktr	C	T	9: 121,556,427 (GRCm39)	T35I	probably damaging	Het
Nktr	T	A	9: 121,577,357 (GRCm39)	M475K	possibly damaging	Het
Nod2	T	A	8: 89,379,694 (GRCm39)	V65D	probably damaging	Het
Opa1	A	T	16: 29,405,799 (GRCm39)	E121D	probably benign	Het
Or10w3	C	T	19: 13,704,270 (GRCm39)	A215V	probably benign	Het
Or1r1	A	G	11: 73,874,669 (GRCm39)	V255A	probably benign	Het
Or2n1c	T	C	17: 38,519,607 (GRCm39)	V157A	probably benign	Het
Or4a76	A	T	2: 89,460,447 (GRCm39)	I265N	possibly damaging	Het
Or5ac21	T	C	16: 59,123,611 (GRCm39)	F32L	probably benign	Het
Or5b123	A	G	19: 13,596,942 (GRCm39)	I96V	probably benign	Het
Or6c88	T	A	10: 129,406,718 (GRCm39)	S65T	probably damaging	Het
Or7e174	A	T	9: 20,012,726 (GRCm39)	I224F	possibly damaging	Het
Osbpl2	A	G	2: 179,791,994 (GRCm39)	T233A	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Plekhh3	T	A	11: 101,061,600 (GRCm39)	D38V	possibly damaging	Het
Prtg	C	T	9: 72,798,122 (GRCm39)	A696V	probably damaging	Het
Ptpn14	T	G	1: 189,595,621 (GRCm39)	V748G	possibly damaging	Het
Reg2	A	T	6: 78,383,137 (GRCm39)	D28V	probably benign	Het
Rhpn1	A	T	15: 75,576,246 (GRCm39)	I2F	possibly damaging	Het
Rundc3a	A	G	11: 102,290,799 (GRCm39)	E294G	possibly damaging	Het
Scara3	T	A	14: 66,168,865 (GRCm39)	I251L	probably benign	Het
Slc23a2	G	A	2: 131,931,043 (GRCm39)	T152I	probably damaging	Het
Slc39a2	T	G	14: 52,131,650 (GRCm39)	S74A	possibly damaging	Het
Tmprss15	T	C	16: 78,758,907 (GRCm39)	Y937C	probably damaging	Het
Tpp2	T	C	1: 44,017,938 (GRCm39)	L779S	probably damaging	Het
Tssk2	T	C	16: 17,717,227 (GRCm39)	V210A	possibly damaging	Het
Ttn	T	A	2: 76,725,937 (GRCm39)	T6100S	unknown	Het
Tufm	G	A	7: 126,088,759 (GRCm39)	E317K	possibly damaging	Het
Vinac1	T	C	2: 128,879,772 (GRCm39)	D718G	unknown	Het
Wdfy4	A	G	14: 32,769,271 (GRCm39)	S2219P		Het
Wtap	T	C	17: 13,199,833 (GRCm39)	N50S	possibly 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
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'- TCCTGGAGAACCCACTGCTAATAAG -3'
(R):5'- TCCAGTTCACAAGTCAAAGGG -3'

Sequencing Primer
(F):5'- GCTCTGGCTGACACTGGTG -3'
(R):5'- AAGGGACAGATAGCCTCTTCTTGC -3'

Posted On

2019-09-13