Mutagenetix > Incidental Mutation

Incidental Mutation 'R5170:C3'

397528

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000024164

Gene Name

complement component 3

Synonyms

complement factor 3, acylation stimulating protein, Plp

MMRRC Submission

042750-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5170 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57203970-57228136 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 57223938 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 388 (V388M)

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: V388M

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000024988
Gene: ENSMUSG00000024164
AA Change: V388M

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	A	G	5: 35,588,625 (GRCm38)	I51V	probably benign	Het
Agbl2	A	G	2: 90,803,197 (GRCm38)	K559R	probably benign	Het
Arhgap30	A	G	1: 171,408,050 (GRCm38)	D664G	probably benign	Het
BC034090	A	G	1: 155,213,650 (GRCm38)	V798A	probably damaging	Het
Bdp1	A	T	13: 100,030,794 (GRCm38)	C2237*	probably null	Het
Ccdc170	G	A	10: 4,514,200 (GRCm38)	E60K	probably damaging	Het
Cdh8	G	A	8: 99,279,550 (GRCm38)	T135M	probably damaging	Het
Cep131	G	T	11: 120,070,609 (GRCm38)	A572E	probably damaging	Het
Clec16a	A	G	16: 10,741,791 (GRCm38)	Y976C	probably benign	Het
Defa41	A	T	8: 21,201,680 (GRCm38)	D26V	probably damaging	Het
Dmpk	C	G	7: 19,088,019 (GRCm38)	L301V	probably benign	Het
Eno3	A	G	11: 70,662,214 (GRCm38)	I393V	probably benign	Het
Fbxo47	A	G	11: 97,857,694 (GRCm38)	V305A	probably benign	Het
Fry	G	A	5: 150,429,854 (GRCm38)	V1779M	probably benign	Het
Gtse1	T	C	15: 85,864,264 (GRCm38)		probably null	Het
Gucy2e	A	T	11: 69,235,570 (GRCm38)	L328Q	probably damaging	Het
Ifi207	T	C	1: 173,730,498 (GRCm38)	T225A	unknown	Het
Igkv4-80	A	C	6: 69,016,665 (GRCm38)	S81A	probably benign	Het
Lamc3	A	T	2: 31,887,344 (GRCm38)	M1L	probably benign	Het
Lman1l	G	A	9: 57,615,619 (GRCm38)	R153*	probably null	Het
Myo16	A	G	8: 10,569,745 (GRCm38)	D1432G	probably benign	Het
Nwd2	A	T	5: 63,806,037 (GRCm38)	N988I	probably damaging	Het
Otx1	C	A	11: 21,997,037 (GRCm38)	A91S	probably damaging	Het
Parp14	T	C	16: 35,857,279 (GRCm38)	E773G	probably benign	Het
Psen1	T	A	12: 83,714,862 (GRCm38)	M146K	probably damaging	Het
Ptx4	G	A	17: 25,123,178 (GRCm38)	R209Q	probably benign	Het
Slc13a2	T	C	11: 78,400,808 (GRCm38)	T340A	probably damaging	Het
St8sia1	T	C	6: 142,963,708 (GRCm38)	K21E	probably damaging	Het
Stxbp1	T	C	2: 32,794,674 (GRCm38)	D581G	probably benign	Het
Sumo2	G	A	11: 115,534,660 (GRCm38)		probably benign	Het
Supt5	G	A	7: 28,316,083 (GRCm38)	P910S	probably benign	Het
Tbc1d30	T	C	10: 121,306,838 (GRCm38)	Q158R	possibly damaging	Het
Tenm2	T	A	11: 36,024,806 (GRCm38)	H1968L	probably damaging	Het
Trmt1	T	C	8: 84,695,232 (GRCm38)	Y220H	probably damaging	Het
Trp73	C	T	4: 154,104,838 (GRCm38)	E60K	possibly damaging	Het
Ttn	A	G	2: 76,787,069 (GRCm38)	Y8026H	probably damaging	Het
Zar1l	A	G	5: 150,517,585 (GRCm38)		probably null	Het
Zfp740	T	C	15: 102,209,205 (GRCm38)	Y117H	probably damaging	Het
Zfp941	G	A	7: 140,812,957 (GRCm38)		probably benign	Het
Zp1	C	A	19: 10,920,554 (GRCm38)	V8F	possibly damaging	Het

Other mutations in C3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:C3	APN	17	57,226,004 (GRCm38)	missense	probably benign	0.01
IGL00741:C3	APN	17	57,220,206 (GRCm38)	intron	probably benign
IGL01093:C3	APN	17	57,223,949 (GRCm38)	missense	probably damaging	1.00
IGL01309:C3	APN	17	57,209,652 (GRCm38)	intron	probably benign
IGL01312:C3	APN	17	57,225,993 (GRCm38)	unclassified	probably benign
IGL01344:C3	APN	17	57,224,880 (GRCm38)	missense	probably benign
IGL01514:C3	APN	17	57,215,866 (GRCm38)	missense	probably benign	0.04
IGL01913:C3	APN	17	57,213,767 (GRCm38)	missense	probably null	0.01
IGL02165:C3	APN	17	57,225,092 (GRCm38)	missense	probably benign	0.17
IGL02176:C3	APN	17	57,226,337 (GRCm38)	unclassified	probably benign
IGL02189:C3	APN	17	57,220,113 (GRCm38)	missense	probably benign	0.01
IGL02378:C3	APN	17	57,212,698 (GRCm38)	missense	probably benign	0.19
IGL02422:C3	APN	17	57,226,823 (GRCm38)	missense	probably damaging	0.98
IGL02715:C3	APN	17	57,204,158 (GRCm38)	intron	probably benign
IGL02737:C3	APN	17	57,204,281 (GRCm38)	missense	probably benign	0.08
IGL03201:C3	APN	17	57,222,249 (GRCm38)	missense	probably damaging	1.00
IGL03210:C3	APN	17	57,215,846 (GRCm38)	nonsense	probably null
IGL03345:C3	APN	17	57,219,585 (GRCm38)	missense	probably damaging	1.00
PIT4431001:C3	UTSW	17	57,206,242 (GRCm38)	missense	probably benign	0.00
PIT4494001:C3	UTSW	17	57,209,263 (GRCm38)	missense	probably benign	0.01
R0158:C3	UTSW	17	57,224,851 (GRCm38)	critical splice donor site	probably null
R0318:C3	UTSW	17	57,224,709 (GRCm38)	missense	probably damaging	0.99
R1132:C3	UTSW	17	57,207,531 (GRCm38)	critical splice donor site	probably null
R1765:C3	UTSW	17	57,224,401 (GRCm38)	splice site	probably null
R1793:C3	UTSW	17	57,219,592 (GRCm38)	missense	possibly damaging	0.93
R1852:C3	UTSW	17	57,222,823 (GRCm38)	missense	probably damaging	0.98
R1908:C3	UTSW	17	57,209,489 (GRCm38)	missense	probably damaging	1.00
R1919:C3	UTSW	17	57,220,135 (GRCm38)	missense	probably damaging	1.00
R1935:C3	UTSW	17	57,218,829 (GRCm38)	missense	probably damaging	1.00
R2026:C3	UTSW	17	57,218,562 (GRCm38)	missense	probably damaging	1.00
R2108:C3	UTSW	17	57,223,974 (GRCm38)	splice site	probably null
R2197:C3	UTSW	17	57,219,623 (GRCm38)	missense	probably benign	0.32
R2394:C3	UTSW	17	57,222,303 (GRCm38)	nonsense	probably null
R2998:C3	UTSW	17	57,210,284 (GRCm38)	missense	probably benign	0.00
R3727:C3	UTSW	17	57,207,379 (GRCm38)	missense	possibly damaging	0.50
R3767:C3	UTSW	17	57,205,303 (GRCm38)	missense	possibly damaging	0.96
R3768:C3	UTSW	17	57,205,303 (GRCm38)	missense	possibly damaging	0.96
R3769:C3	UTSW	17	57,205,303 (GRCm38)	missense	possibly damaging	0.96
R3770:C3	UTSW	17	57,205,303 (GRCm38)	missense	possibly damaging	0.96
R3784:C3	UTSW	17	57,226,067 (GRCm38)	missense	probably damaging	0.99
R3883:C3	UTSW	17	57,217,173 (GRCm38)	critical splice acceptor site	probably null
R3884:C3	UTSW	17	57,217,173 (GRCm38)	critical splice acceptor site	probably null
R3950:C3	UTSW	17	57,225,286 (GRCm38)	missense	probably benign	0.02
R3966:C3	UTSW	17	57,218,664 (GRCm38)	missense	probably damaging	0.99
R4077:C3	UTSW	17	57,205,303 (GRCm38)	missense	possibly damaging	0.96
R4078:C3	UTSW	17	57,205,303 (GRCm38)	missense	possibly damaging	0.96
R4079:C3	UTSW	17	57,205,303 (GRCm38)	missense	possibly damaging	0.96
R4168:C3	UTSW	17	57,218,608 (GRCm38)	missense	probably benign	0.00
R4208:C3	UTSW	17	57,205,303 (GRCm38)	missense	possibly damaging	0.96
R4695:C3	UTSW	17	57,221,057 (GRCm38)	missense	probably benign
R4909:C3	UTSW	17	57,226,830 (GRCm38)	critical splice donor site	probably null
R5011:C3	UTSW	17	57,223,236 (GRCm38)	missense	probably benign	0.06
R5094:C3	UTSW	17	57,225,033 (GRCm38)	critical splice donor site	probably null
R5141:C3	UTSW	17	57,219,570 (GRCm38)	missense	probably damaging	0.98
R5339:C3	UTSW	17	57,224,308 (GRCm38)	missense	probably damaging	0.99
R5369:C3	UTSW	17	57,221,159 (GRCm38)	missense	probably benign	0.45
R5412:C3	UTSW	17	57,220,187 (GRCm38)	missense	probably benign	0.01
R5439:C3	UTSW	17	57,204,502 (GRCm38)	missense	probably benign	0.28
R5463:C3	UTSW	17	57,211,720 (GRCm38)	missense	probably benign	0.08
R5546:C3	UTSW	17	57,222,976 (GRCm38)	missense	probably damaging	0.99
R5572:C3	UTSW	17	57,224,673 (GRCm38)	missense	probably damaging	0.99
R5851:C3	UTSW	17	57,211,612 (GRCm38)	missense	probably null	0.14
R5863:C3	UTSW	17	57,223,141 (GRCm38)	missense	probably benign	0.06
R5888:C3	UTSW	17	57,214,831 (GRCm38)	missense	probably damaging	1.00
R5940:C3	UTSW	17	57,210,244 (GRCm38)	missense	possibly damaging	0.64
R6073:C3	UTSW	17	57,206,223 (GRCm38)	missense	probably null
R6091:C3	UTSW	17	57,221,967 (GRCm38)	nonsense	probably null
R6286:C3	UTSW	17	57,224,118 (GRCm38)	missense	probably damaging	1.00
R6524:C3	UTSW	17	57,217,264 (GRCm38)	critical splice donor site	probably null
R6868:C3	UTSW	17	57,204,029 (GRCm38)	missense	possibly damaging	0.55
R6896:C3	UTSW	17	57,220,864 (GRCm38)	splice site	probably null
R7007:C3	UTSW	17	57,218,809 (GRCm38)	missense	probably benign	0.00
R7022:C3	UTSW	17	57,217,286 (GRCm38)	missense	probably damaging	1.00
R7099:C3	UTSW	17	57,206,276 (GRCm38)	missense	probably benign	0.28
R7117:C3	UTSW	17	57,212,655 (GRCm38)	missense	probably benign	0.01
R7347:C3	UTSW	17	57,223,215 (GRCm38)	missense	probably benign	0.09
R7366:C3	UTSW	17	57,221,162 (GRCm38)	missense	probably benign	0.00
R7423:C3	UTSW	17	57,214,767 (GRCm38)	missense	probably damaging	1.00
R7425:C3	UTSW	17	57,204,039 (GRCm38)	missense	possibly damaging	0.81
R7481:C3	UTSW	17	57,220,136 (GRCm38)	missense	probably damaging	1.00
R7540:C3	UTSW	17	57,206,220 (GRCm38)	missense	probably benign	0.01
R7746:C3	UTSW	17	57,218,859 (GRCm38)	missense	probably damaging	1.00
R7771:C3	UTSW	17	57,215,797 (GRCm38)	missense	probably damaging	1.00
R7884:C3	UTSW	17	57,226,264 (GRCm38)	missense	probably benign	0.05
R8144:C3	UTSW	17	57,226,276 (GRCm38)	missense	probably damaging	0.98
R8279:C3	UTSW	17	57,215,809 (GRCm38)	missense	probably benign	0.28
R8284:C3	UTSW	17	57,223,938 (GRCm38)	missense	probably benign	0.39
R8328:C3	UTSW	17	57,220,973 (GRCm38)	missense	probably benign	0.00
R8353:C3	UTSW	17	57,212,643 (GRCm38)	missense	probably benign	0.00
R8396:C3	UTSW	17	57,221,029 (GRCm38)	missense	probably benign
R8429:C3	UTSW	17	57,222,811 (GRCm38)	missense	probably damaging	1.00
R8453:C3	UTSW	17	57,212,643 (GRCm38)	missense	probably benign	0.00
R8557:C3	UTSW	17	57,224,383 (GRCm38)	missense	probably benign	0.00
R8738:C3	UTSW	17	57,204,015 (GRCm38)	makesense	probably null
R8794:C3	UTSW	17	57,221,011 (GRCm38)	missense	probably benign
R9130:C3	UTSW	17	57,211,678 (GRCm38)	missense	probably damaging	1.00
R9296:C3	UTSW	17	57,204,291 (GRCm38)	missense	probably benign
R9432:C3	UTSW	17	57,223,950 (GRCm38)	missense	probably damaging	1.00
R9451:C3	UTSW	17	57,224,169 (GRCm38)	missense	probably benign	0.03
R9542:C3	UTSW	17	57,225,037 (GRCm38)	missense	probably damaging	1.00
R9615:C3	UTSW	17	57,211,669 (GRCm38)	missense	probably damaging	1.00
R9624:C3	UTSW	17	57,220,189 (GRCm38)	missense	probably benign	0.00
Z1177:C3	UTSW	17	57,226,171 (GRCm38)	missense	probably damaging	0.99
Z1177:C3	UTSW	17	57,217,144 (GRCm38)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- CCACGGAGGTGTCATGAAAAC -3'
(R):5'- GTGGGATCCCGATTGTCACTTC -3'

Sequencing Primer
(F):5'- TCATGAAAACAGCAGAGCTCTGTG -3'
(R):5'- GATTGTCACTTCCCCGTACCAG -3'

Posted On

2016-07-06