Mutagenetix > Incidental Mutation

Incidental Mutation 'R7807:C2'

600896

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000024371

Gene Name

complement C2

Synonyms

classical-complement pathway C3/C5 convertase

MMRRC Submission

045862-MU

Accession Numbers

Essential gene?

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

Stock #

R7807 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35081578-35101076 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 35095347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 199 (S199R)

Ref Sequence

ENSEMBL: ENSMUSP00000025230 (fasta)

Gene Model

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

AlphaFold

P21180

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025230
AA Change: S199R

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025230
Gene: ENSMUSG00000024371
AA Change: S199R

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

unknown
Transcript: ENSMUST00000146299
AA Change: S137R

SMART Domains

Protein: ENSMUSP00000117677
Gene: ENSMUSG00000092511
AA Change: S137R

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
AA Change: S13R

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000120009
Gene: ENSMUSG00000024371
AA Change: S13R

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: S62R

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123536
Gene: ENSMUSG00000024371
AA Change: S62R

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: 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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	C	A	9: 21,447,276 (GRCm39)	T146K	probably benign	Het
Alms1	T	A	6: 85,599,958 (GRCm39)	S1595T	possibly damaging	Het
Ankrd44	A	T	1: 54,831,635 (GRCm39)	I56N	probably damaging	Het
Anln	C	A	9: 22,272,176 (GRCm39)	V648F	probably damaging	Het
Arhgap29	A	G	3: 121,807,981 (GRCm39)	D1053G	probably benign	Het
Baalc	T	C	15: 38,797,412 (GRCm39)	S68P	probably benign	Het
Begain	T	C	12: 109,004,856 (GRCm39)	D52G	probably damaging	Het
Blmh	A	G	11: 76,837,040 (GRCm39)	I41V	probably benign	Het
Bpifc	T	A	10: 85,812,114 (GRCm39)	I365F	possibly damaging	Het
Ccbe1	T	A	18: 66,199,828 (GRCm39)	H298L	probably damaging	Het
Ccdc112	T	A	18: 46,423,826 (GRCm39)	K304I	probably damaging	Het
Ccdc15	T	C	9: 37,226,678 (GRCm39)	E432G	probably benign	Het
Cdh13	T	A	8: 119,010,594 (GRCm39)	M1K	probably null	Het
Cipc	T	C	12: 87,008,899 (GRCm39)	S253P	possibly damaging	Het
Clcn1	A	G	6: 42,287,282 (GRCm39)		probably null	Het
Clock	A	T	5: 76,390,982 (GRCm39)	N273K	probably benign	Het
Cyp19a1	T	C	9: 54,074,126 (GRCm39)	D476G	probably benign	Het
Dnaaf9	T	C	2: 130,552,785 (GRCm39)	K1092E	probably damaging	Het
Dnah7b	A	G	1: 46,253,527 (GRCm39)	I1811V	probably benign	Het
Fat1	C	A	8: 45,495,010 (GRCm39)	T4091K	probably damaging	Het
Gm10340	T	A	14: 14,826,724 (GRCm39)	N64K	probably damaging	Het
Hectd1	G	A	12: 51,792,171 (GRCm39)	R2523C	probably damaging	Het
Hgf	A	G	5: 16,782,009 (GRCm39)	H244R	probably damaging	Het
Hgs	G	T	11: 120,370,760 (GRCm39)	A567S	probably damaging	Het
Igdcc4	T	C	9: 65,041,077 (GRCm39)	V1036A	probably benign	Het
Keg1	G	A	19: 12,691,998 (GRCm39)		probably null	Het
Klhl8	A	T	5: 104,023,932 (GRCm39)	L156Q	probably damaging	Het
Lmln	T	C	16: 32,927,501 (GRCm39)	Y521H	probably benign	Het
Lrrc7	A	G	3: 157,866,124 (GRCm39)	S1206P	probably damaging	Het
Mad1l1	T	A	5: 140,074,541 (GRCm39)	I550F	probably benign	Het
Marf1	C	T	16: 13,971,753 (GRCm39)	W28*	probably null	Het
Mfsd11	T	G	11: 116,754,733 (GRCm39)	S215A	probably benign	Het
Mpped2	C	A	2: 106,575,085 (GRCm39)	H57N	possibly damaging	Het
Mslnl	A	G	17: 25,965,751 (GRCm39)	M542V	probably benign	Het
Myh6	G	T	14: 55,179,897 (GRCm39)	H1903Q	probably damaging	Het
Neo1	T	C	9: 58,897,777 (GRCm39)	T60A	probably benign	Het
Npm2	T	A	14: 70,889,947 (GRCm39)		probably null	Het
Or5b123	C	A	19: 13,597,285 (GRCm39)	T210K	probably damaging	Het
Or5d20-ps1	T	C	2: 87,931,909 (GRCm39)	S141G	probably benign	Het
Or7a39	T	A	10: 78,715,043 (GRCm39)	S12R	probably benign	Het
Pax9	A	T	12: 56,743,850 (GRCm39)	I166F	possibly damaging	Het
Pcsk9	A	G	4: 106,321,092 (GRCm39)	S6P	possibly damaging	Het
Pikfyve	A	G	1: 65,309,101 (GRCm39)	Y1893C	probably damaging	Het
Pirb	T	C	7: 3,722,864 (GRCm39)	T43A	possibly damaging	Het
Pou3f1	A	G	4: 124,552,074 (GRCm39)	D192G	possibly damaging	Het
Pus3	C	G	9: 35,478,021 (GRCm39)	R418G	probably damaging	Het
Rexo1	C	T	10: 80,385,970 (GRCm39)	V363I	probably benign	Het
Sdcbp	A	G	4: 6,393,688 (GRCm39)	T269A	probably damaging	Het
Sele	T	C	1: 163,881,462 (GRCm39)	V523A	probably benign	Het
Serpinb8	T	A	1: 107,532,457 (GRCm39)	M183K	probably damaging	Het
Sh2d4a	T	G	8: 68,735,033 (GRCm39)	S51A	probably benign	Het
Siglec15	A	G	18: 78,090,696 (GRCm39)	S201P	probably damaging	Het
Slc10a5	C	T	3: 10,400,529 (GRCm39)	V44I	probably benign	Het
Slc16a13	A	G	11: 70,111,388 (GRCm39)	V39A	probably damaging	Het
Slc25a13	G	A	6: 6,117,164 (GRCm39)	R184W	probably damaging	Het
Slc35f5	T	A	1: 125,512,278 (GRCm39)	D359E	probably damaging	Het
Slc3a1	A	G	17: 85,371,371 (GRCm39)	E641G	probably benign	Het
Slf1	T	C	13: 77,194,823 (GRCm39)	D834G	probably damaging	Het
Spata31f1e	A	C	4: 42,793,885 (GRCm39)	H82Q	probably benign	Het
Stim1	T	C	7: 102,076,348 (GRCm39)	I433T	probably damaging	Het
Stra6	T	A	9: 58,057,444 (GRCm39)	I418K	probably damaging	Het
Tanc2	A	G	11: 105,758,480 (GRCm39)	N747S	probably benign	Het
Tet2	T	C	3: 133,192,302 (GRCm39)	T711A	possibly damaging	Het
Trpm6	T	C	19: 18,807,220 (GRCm39)	I988T	probably benign	Het
Ttc41	T	A	10: 86,612,495 (GRCm39)	I1256N	probably benign	Het
Uba2	T	C	7: 33,862,638 (GRCm39)	D100G	possibly damaging	Het
Vmn1r43	A	G	6: 89,847,219 (GRCm39)	I89T	probably benign	Het
Vmn2r58	T	A	7: 41,521,910 (GRCm39)	Y62F	probably benign	Het
Ylpm1	C	T	12: 85,060,855 (GRCm39)	Q428*	probably null	Het
Zcrb1	T	C	15: 93,289,002 (GRCm39)	D88G	probably damaging	Het
Zmym1	A	C	4: 126,941,667 (GRCm39)	I907S	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
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'- AGTACCCAGGTATCTTGCCTC -3'
(R):5'- AGCAGACATTTCCAGGTCCTG -3'

Sequencing Primer
(F):5'- CCAATACTCACTTGTCAGAAGGTTC -3'
(R):5'- AGACATTTCCAGGTCCTGTCTAC -3'

Posted On

2019-11-26