Mutagenetix > Incidental Mutation

Incidental Mutation 'R0318:C3'

25560

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000024164

Gene Name

complement component 3

Synonyms

Plp, acylation stimulating protein, complement factor 3

MMRRC Submission

038528-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0318 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57510970-57535136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 57531709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 272 (V272M)

Ref Sequence

ENSEMBL: ENSMUSP00000024988 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024988] [ENSMUST00000177425]

AlphaFold

P01027

Predicted Effect

probably damaging
Transcript: ENSMUST00000024988
AA Change: V272M

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000024988
Gene: ENSMUSG00000024164
AA Change: V272M

Domain	Start	End	E-Value	Type
low complexity region	4	23	N/A	INTRINSIC
Pfam:A2M_N	130	225	3.8e-17	PFAM
A2M_N_2	456	604	5.22e-38	SMART
ANATO	693	728	5.69e-15	SMART
low complexity region	752	762	N/A	INTRINSIC
A2M	770	866	5.47e-32	SMART
Pfam:Thiol-ester_cl	1000	1028	4.6e-15	PFAM
Pfam:A2M_comp	1051	1284	7.3e-60	PFAM
A2M_recep	1398	1493	3.98e-43	SMART
C345C	1533	1645	1.85e-48	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176457

Predicted Effect

probably benign
Transcript: ENSMUST00000177046

Predicted Effect

probably benign
Transcript: ENSMUST00000177425

SMART Domains

Protein: ENSMUSP00000135663
Gene: ENSMUSG00000024164

Domain	Start	End	E-Value	Type
Pfam:A2M_N_2	1	55	1.6e-10	PFAM
PDB:3L5N\|B	74	102	1e-9	PDB

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.4%
20x: 86.5%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes complement protein C3 which plays a central role in the classical, alternative and lectin activation pathways of the complement system. The encoded preproprotein undergoes a multi-step processing to generate various functional peptides. Mice deficient in the encoded protein fail to clear bacteria from the blood stream upon infection, display diminished airway hyperresponsiveness and lung eosinophilia upon allergen-induced pulmonary allergy, and develop severe lung injury after deposition of IgG immune complexes. Deficiency of the homolog of the encoded protein in humans was found to be associated with increased susceptibility to infections, age-related macular degeneration, and atypical hemolytic uremic syndrome. [provided by RefSeq, Mar 2015]
PHENOTYPE: Homozygous mutant mice exhibit abnormal immune responses, including increased mortality upon bacterial infection and decreased inflammatory response. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 57,892,370 (GRCm39)	L79Q	probably damaging	Het
Add1	T	C	5: 34,782,684 (GRCm39)	V130A	probably damaging	Het
Ankrd23	G	T	1: 36,573,153 (GRCm39)	T73K	probably benign	Het
Blk	A	G	14: 63,611,646 (GRCm39)	Y430H	probably damaging	Het
Cerk	C	T	15: 86,035,766 (GRCm39)	A254T	possibly damaging	Het
Ces2a	G	A	8: 105,467,456 (GRCm39)	A494T	probably damaging	Het
Cfap46	T	C	7: 139,234,482 (GRCm39)	Y258C	probably damaging	Het
Chaf1a	C	T	17: 56,369,227 (GRCm39)	T486I	possibly damaging	Het
Colec12	A	G	18: 9,848,446 (GRCm39)	N208S	possibly damaging	Het
Coro7	T	A	16: 4,493,671 (GRCm39)	H63L	probably benign	Het
Cps1	T	A	1: 67,216,173 (GRCm39)	W833R	probably damaging	Het
Csmd3	A	T	15: 47,522,549 (GRCm39)	W2707R	probably damaging	Het
Dbn1	C	T	13: 55,622,729 (GRCm39)	E585K	probably damaging	Het
Ddx50	A	T	10: 62,478,616 (GRCm39)	I190K	probably damaging	Het
Dnmt3l	G	A	10: 77,890,889 (GRCm39)	V264M	probably damaging	Het
Dnpep	A	G	1: 75,293,270 (GRCm39)	V33A	probably damaging	Het
Fam163a	A	G	1: 155,955,715 (GRCm39)	C26R	probably damaging	Het
Fam83h	A	G	15: 75,875,478 (GRCm39)	S620P	probably benign	Het
Fcna	A	G	2: 25,515,071 (GRCm39)	S263P	probably benign	Het
Fnip2	A	T	3: 79,419,685 (GRCm39)	S165R	probably damaging	Het
Fpr-rs3	T	C	17: 20,844,410 (GRCm39)	T244A	probably benign	Het
Gpr152	T	C	19: 4,193,541 (GRCm39)	S361P	possibly damaging	Het
Grm5	A	T	7: 87,252,175 (GRCm39)	I142L	probably damaging	Het
Gucy2g	A	G	19: 55,226,230 (GRCm39)	S229P	probably benign	Het
Htr7	C	T	19: 35,946,886 (GRCm39)	G376D	probably damaging	Het
Irgc	T	C	7: 24,131,896 (GRCm39)	D307G	probably benign	Het
Irs1	A	T	1: 82,266,381 (GRCm39)	S612T	probably benign	Het
Maml2	C	T	9: 13,531,890 (GRCm39)	T368I	probably damaging	Het
Mapkapk2	A	G	1: 131,025,072 (GRCm39)	V64A	probably damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Nptx1	C	T	11: 119,433,367 (GRCm39)	E411K	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5ak25	C	A	2: 85,268,581 (GRCm39)	R307M	possibly damaging	Het
Pcgf5	A	T	19: 36,389,590 (GRCm39)	K22N	possibly damaging	Het
Psmd9	C	A	5: 123,372,712 (GRCm39)	A65E	possibly damaging	Het
Sh3bp1	A	G	15: 78,795,907 (GRCm39)	T679A	probably damaging	Het
Sipa1l2	G	A	8: 126,174,436 (GRCm39)	P1281S	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc25a24	A	G	3: 109,064,316 (GRCm39)	M222V	probably benign	Het
Smg9	T	C	7: 24,120,313 (GRCm39)	F429S	possibly damaging	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Sorl1	T	A	9: 41,993,250 (GRCm39)	Y258F	probably damaging	Het
Srp72	C	T	5: 77,132,047 (GRCm39)	T242I	probably benign	Het
Stc1	A	T	14: 69,275,867 (GRCm39)	Q220L	probably damaging	Het
Tas2r122	T	C	6: 132,688,795 (GRCm39)	T33A	possibly damaging	Het
Tbc1d10b	A	G	7: 126,798,206 (GRCm39)	L645P	probably damaging	Het
Thoc2l	T	C	5: 104,665,619 (GRCm39)	F47S	probably benign	Het
Timd4	T	A	11: 46,727,898 (GRCm39)	H272Q	probably benign	Het
Ttll5	T	G	12: 85,923,368 (GRCm39)		probably null	Het
Veph1	G	T	3: 65,964,680 (GRCm39)	S783Y	probably damaging	Het
Vmn1r230	T	C	17: 21,067,078 (GRCm39)	L89S	possibly damaging	Het
Xcr1	A	G	9: 123,685,219 (GRCm39)	V165A	possibly damaging	Het
Zfp286	T	C	11: 62,675,788 (GRCm39)	D58G	probably damaging	Het
Zfyve26	C	T	12: 79,323,055 (GRCm39)	R897H	probably damaging	Het

Other mutations in C3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:C3	APN	17	57,533,004 (GRCm39)	missense	probably benign	0.01
IGL00741:C3	APN	17	57,527,206 (GRCm39)	intron	probably benign
IGL01093:C3	APN	17	57,530,949 (GRCm39)	missense	probably damaging	1.00
IGL01309:C3	APN	17	57,516,652 (GRCm39)	intron	probably benign
IGL01312:C3	APN	17	57,532,993 (GRCm39)	unclassified	probably benign
IGL01344:C3	APN	17	57,531,880 (GRCm39)	missense	probably benign
IGL01514:C3	APN	17	57,522,866 (GRCm39)	missense	probably benign	0.04
IGL01913:C3	APN	17	57,520,767 (GRCm39)	missense	probably null	0.01
IGL02165:C3	APN	17	57,532,092 (GRCm39)	missense	probably benign	0.17
IGL02176:C3	APN	17	57,533,337 (GRCm39)	unclassified	probably benign
IGL02189:C3	APN	17	57,527,113 (GRCm39)	missense	probably benign	0.01
IGL02378:C3	APN	17	57,519,698 (GRCm39)	missense	probably benign	0.19
IGL02422:C3	APN	17	57,533,823 (GRCm39)	missense	probably damaging	0.98
IGL02715:C3	APN	17	57,511,158 (GRCm39)	intron	probably benign
IGL02737:C3	APN	17	57,511,281 (GRCm39)	missense	probably benign	0.08
IGL03201:C3	APN	17	57,529,249 (GRCm39)	missense	probably damaging	1.00
IGL03210:C3	APN	17	57,522,846 (GRCm39)	nonsense	probably null
IGL03345:C3	APN	17	57,526,585 (GRCm39)	missense	probably damaging	1.00
PIT4431001:C3	UTSW	17	57,513,242 (GRCm39)	missense	probably benign	0.00
PIT4494001:C3	UTSW	17	57,516,263 (GRCm39)	missense	probably benign	0.01
R0158:C3	UTSW	17	57,531,851 (GRCm39)	critical splice donor site	probably null
R1132:C3	UTSW	17	57,514,531 (GRCm39)	critical splice donor site	probably null
R1765:C3	UTSW	17	57,531,401 (GRCm39)	splice site	probably null
R1793:C3	UTSW	17	57,526,592 (GRCm39)	missense	possibly damaging	0.93
R1852:C3	UTSW	17	57,529,823 (GRCm39)	missense	probably damaging	0.98
R1908:C3	UTSW	17	57,516,489 (GRCm39)	missense	probably damaging	1.00
R1919:C3	UTSW	17	57,527,135 (GRCm39)	missense	probably damaging	1.00
R1935:C3	UTSW	17	57,525,829 (GRCm39)	missense	probably damaging	1.00
R2026:C3	UTSW	17	57,525,562 (GRCm39)	missense	probably damaging	1.00
R2108:C3	UTSW	17	57,530,974 (GRCm39)	splice site	probably null
R2197:C3	UTSW	17	57,526,623 (GRCm39)	missense	probably benign	0.32
R2394:C3	UTSW	17	57,529,303 (GRCm39)	nonsense	probably null
R2998:C3	UTSW	17	57,517,284 (GRCm39)	missense	probably benign	0.00
R3727:C3	UTSW	17	57,514,379 (GRCm39)	missense	possibly damaging	0.50
R3767:C3	UTSW	17	57,512,303 (GRCm39)	missense	possibly damaging	0.96
R3768:C3	UTSW	17	57,512,303 (GRCm39)	missense	possibly damaging	0.96
R3769:C3	UTSW	17	57,512,303 (GRCm39)	missense	possibly damaging	0.96
R3770:C3	UTSW	17	57,512,303 (GRCm39)	missense	possibly damaging	0.96
R3784:C3	UTSW	17	57,533,067 (GRCm39)	missense	probably damaging	0.99
R3883:C3	UTSW	17	57,524,173 (GRCm39)	critical splice acceptor site	probably null
R3884:C3	UTSW	17	57,524,173 (GRCm39)	critical splice acceptor site	probably null
R3950:C3	UTSW	17	57,532,286 (GRCm39)	missense	probably benign	0.02
R3966:C3	UTSW	17	57,525,664 (GRCm39)	missense	probably damaging	0.99
R4077:C3	UTSW	17	57,512,303 (GRCm39)	missense	possibly damaging	0.96
R4078:C3	UTSW	17	57,512,303 (GRCm39)	missense	possibly damaging	0.96
R4079:C3	UTSW	17	57,512,303 (GRCm39)	missense	possibly damaging	0.96
R4168:C3	UTSW	17	57,525,608 (GRCm39)	missense	probably benign	0.00
R4208:C3	UTSW	17	57,512,303 (GRCm39)	missense	possibly damaging	0.96
R4695:C3	UTSW	17	57,528,057 (GRCm39)	missense	probably benign
R4909:C3	UTSW	17	57,533,830 (GRCm39)	critical splice donor site	probably null
R5011:C3	UTSW	17	57,530,236 (GRCm39)	missense	probably benign	0.06
R5094:C3	UTSW	17	57,532,033 (GRCm39)	critical splice donor site	probably null
R5141:C3	UTSW	17	57,526,570 (GRCm39)	missense	probably damaging	0.98
R5170:C3	UTSW	17	57,530,938 (GRCm39)	missense	probably damaging	0.96
R5339:C3	UTSW	17	57,531,308 (GRCm39)	missense	probably damaging	0.99
R5369:C3	UTSW	17	57,528,159 (GRCm39)	missense	probably benign	0.45
R5412:C3	UTSW	17	57,527,187 (GRCm39)	missense	probably benign	0.01
R5439:C3	UTSW	17	57,511,502 (GRCm39)	missense	probably benign	0.28
R5463:C3	UTSW	17	57,518,720 (GRCm39)	missense	probably benign	0.08
R5546:C3	UTSW	17	57,529,976 (GRCm39)	missense	probably damaging	0.99
R5572:C3	UTSW	17	57,531,673 (GRCm39)	missense	probably damaging	0.99
R5851:C3	UTSW	17	57,518,612 (GRCm39)	missense	probably null	0.14
R5863:C3	UTSW	17	57,530,141 (GRCm39)	missense	probably benign	0.06
R5888:C3	UTSW	17	57,521,831 (GRCm39)	missense	probably damaging	1.00
R5940:C3	UTSW	17	57,517,244 (GRCm39)	missense	possibly damaging	0.64
R6073:C3	UTSW	17	57,513,223 (GRCm39)	missense	probably null
R6091:C3	UTSW	17	57,528,967 (GRCm39)	nonsense	probably null
R6286:C3	UTSW	17	57,531,118 (GRCm39)	missense	probably damaging	1.00
R6524:C3	UTSW	17	57,524,264 (GRCm39)	critical splice donor site	probably null
R6868:C3	UTSW	17	57,511,029 (GRCm39)	missense	possibly damaging	0.55
R6896:C3	UTSW	17	57,527,864 (GRCm39)	splice site	probably null
R7007:C3	UTSW	17	57,525,809 (GRCm39)	missense	probably benign	0.00
R7022:C3	UTSW	17	57,524,286 (GRCm39)	missense	probably damaging	1.00
R7099:C3	UTSW	17	57,513,276 (GRCm39)	missense	probably benign	0.28
R7117:C3	UTSW	17	57,519,655 (GRCm39)	missense	probably benign	0.01
R7347:C3	UTSW	17	57,530,215 (GRCm39)	missense	probably benign	0.09
R7366:C3	UTSW	17	57,528,162 (GRCm39)	missense	probably benign	0.00
R7423:C3	UTSW	17	57,521,767 (GRCm39)	missense	probably damaging	1.00
R7425:C3	UTSW	17	57,511,039 (GRCm39)	missense	possibly damaging	0.81
R7481:C3	UTSW	17	57,527,136 (GRCm39)	missense	probably damaging	1.00
R7540:C3	UTSW	17	57,513,220 (GRCm39)	missense	probably benign	0.01
R7746:C3	UTSW	17	57,525,859 (GRCm39)	missense	probably damaging	1.00
R7771:C3	UTSW	17	57,522,797 (GRCm39)	missense	probably damaging	1.00
R7884:C3	UTSW	17	57,533,264 (GRCm39)	missense	probably benign	0.05
R8144:C3	UTSW	17	57,533,276 (GRCm39)	missense	probably damaging	0.98
R8279:C3	UTSW	17	57,522,809 (GRCm39)	missense	probably benign	0.28
R8284:C3	UTSW	17	57,530,938 (GRCm39)	missense	probably benign	0.39
R8328:C3	UTSW	17	57,527,973 (GRCm39)	missense	probably benign	0.00
R8353:C3	UTSW	17	57,519,643 (GRCm39)	missense	probably benign	0.00
R8396:C3	UTSW	17	57,528,029 (GRCm39)	missense	probably benign
R8429:C3	UTSW	17	57,529,811 (GRCm39)	missense	probably damaging	1.00
R8453:C3	UTSW	17	57,519,643 (GRCm39)	missense	probably benign	0.00
R8557:C3	UTSW	17	57,531,383 (GRCm39)	missense	probably benign	0.00
R8738:C3	UTSW	17	57,511,015 (GRCm39)	makesense	probably null
R8794:C3	UTSW	17	57,528,011 (GRCm39)	missense	probably benign
R9130:C3	UTSW	17	57,518,678 (GRCm39)	missense	probably damaging	1.00
R9296:C3	UTSW	17	57,511,291 (GRCm39)	missense	probably benign
R9432:C3	UTSW	17	57,530,950 (GRCm39)	missense	probably damaging	1.00
R9451:C3	UTSW	17	57,531,169 (GRCm39)	missense	probably benign	0.03
R9542:C3	UTSW	17	57,532,037 (GRCm39)	missense	probably damaging	1.00
R9615:C3	UTSW	17	57,518,669 (GRCm39)	missense	probably damaging	1.00
R9624:C3	UTSW	17	57,527,189 (GRCm39)	missense	probably benign	0.00
Z1177:C3	UTSW	17	57,533,171 (GRCm39)	missense	probably damaging	0.99
Z1177:C3	UTSW	17	57,524,144 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- GTTCAGCAAGGTGAGTGACTGGTAG -3'
(R):5'- TCTCCGCAGAGTTTGAGGTGAAGG -3'

Sequencing Primer
(F):5'- TGACTGGTAGGGGCACTAAG -3'
(R):5'- AGCCACACCCAGAGAAGTCT -3'

Posted On

2013-04-16