Mutagenetix > Incidental Mutation

Incidental Mutation 'R5412:C3'

427562

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000024164

Gene Name

complement component 3

Synonyms

Plp, acylation stimulating protein, complement factor 3

MMRRC Submission

042981-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5412 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57510970-57535136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57527187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 754 (D754G)

Ref Sequence

ENSEMBL: ENSMUSP00000024988 (fasta)

Gene Model

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

AlphaFold

P01027

Predicted Effect

probably benign
Transcript: ENSMUST00000024988
AA Change: D754G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000024988
Gene: ENSMUSG00000024164
AA Change: D754G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184453

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	A	9: 55,886,036 (GRCm39)	N36Y	probably damaging	Het
Ankfn1	T	A	11: 89,396,007 (GRCm39)	E246D	probably benign	Het
Arid1a	T	C	4: 133,446,913 (GRCm39)		probably benign	Het
Bbs7	A	T	3: 36,653,522 (GRCm39)	D300E	probably benign	Het
Ccpg1	A	T	9: 72,917,588 (GRCm39)	Q240L	probably damaging	Het
Cdk13	G	A	13: 17,941,115 (GRCm39)	P650S	probably damaging	Het
Celsr2	G	T	3: 108,307,311 (GRCm39)	S1933Y	probably damaging	Het
Cep135	T	A	5: 76,764,709 (GRCm39)	H562Q	probably benign	Het
Cyp26a1	G	T	19: 37,689,630 (GRCm39)	C442F	probably damaging	Het
Dnah7a	T	C	1: 53,674,503 (GRCm39)	S425G	probably benign	Het
Espn	C	T	4: 152,212,582 (GRCm39)	V752M	probably damaging	Het
Glyr1	A	G	16: 4,854,297 (GRCm39)	S113P	possibly damaging	Het
Grk4	A	T	5: 34,902,612 (GRCm39)	Y388F	probably benign	Het
H2-T15	C	T	17: 36,366,936 (GRCm39)	C369Y	probably benign	Het
Heca	C	A	10: 17,778,044 (GRCm39)	V518F	probably damaging	Het
Hmcn2	C	T	2: 31,236,629 (GRCm39)	P391S	possibly damaging	Het
Hnrnpl	A	G	7: 28,510,529 (GRCm39)		probably benign	Het
Hsd3b2	A	G	3: 98,619,208 (GRCm39)	S246P	possibly damaging	Het
Ifna11	C	T	4: 88,738,380 (GRCm39)	P62L	probably damaging	Het
Katnal2	A	T	18: 77,090,131 (GRCm39)	V292D	probably damaging	Het
Krt16	T	A	11: 100,137,593 (GRCm39)	I371F	probably damaging	Het
Ly6g2	A	T	15: 75,089,669 (GRCm39)	E59V	probably damaging	Het
Map10	A	T	8: 126,397,724 (GRCm39)	L372F	probably damaging	Het
Megf10	A	T	18: 57,324,219 (GRCm39)	M87L	probably damaging	Het
Ncoa6	T	C	2: 155,249,701 (GRCm39)	H1201R	possibly damaging	Het
Ndc80	C	A	17: 71,821,226 (GRCm39)	D241Y	probably damaging	Het
Ndufs1	T	C	1: 63,205,508 (GRCm39)	M94V	possibly damaging	Het
Nkx2-6	G	T	14: 69,412,195 (GRCm39)	R121L	probably damaging	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Or6a2	A	G	7: 106,600,842 (GRCm39)	V75A	probably damaging	Het
Otop1	A	G	5: 38,455,328 (GRCm39)	I241V	probably benign	Het
Panx2	C	A	15: 88,953,135 (GRCm39)	P542H	possibly damaging	Het
Pcdha5	C	A	18: 37,095,510 (GRCm39)	P673Q	probably benign	Het
Pon1	A	G	6: 5,185,314 (GRCm39)	L62P	probably damaging	Het
Prdx6	A	T	1: 161,071,860 (GRCm39)	I102N	probably damaging	Het
Prkd3	T	A	17: 79,262,140 (GRCm39)	I725F	possibly damaging	Het
Selenon	T	C	4: 134,269,749 (GRCm39)	N395S	probably benign	Het
Serpinb8	G	A	1: 107,533,616 (GRCm39)	E224K	probably benign	Het
Serpinb9b	A	G	13: 33,213,496 (GRCm39)	M18V	probably benign	Het
Smc6	A	G	12: 11,335,400 (GRCm39)	E318G	possibly damaging	Het
Srrt	A	T	5: 137,294,549 (GRCm39)	Y786N	probably damaging	Het
Stk36	G	T	1: 74,644,615 (GRCm39)		probably null	Het
Stpg1	T	A	4: 135,252,786 (GRCm39)	L179Q	possibly damaging	Het
Stra8	G	A	6: 34,907,885 (GRCm39)	M1I	probably null	Het
Tiam1	G	T	16: 89,681,753 (GRCm39)	H408Q	possibly damaging	Het
Tm2d1	G	A	4: 98,253,855 (GRCm39)	T106I	probably damaging	Het
Tmem150b	A	C	7: 4,719,368 (GRCm39)	I184S	probably null	Het
Vmn1r216	A	G	13: 23,284,081 (GRCm39)	I255V	probably benign	Het
Vps13b	G	A	15: 35,533,531 (GRCm39)	A868T	probably damaging	Het
Wdr81	C	T	11: 75,341,620 (GRCm39)	D1216N	probably null	Het
Zfp26	T	C	9: 20,349,535 (GRCm39)	Y343C	possibly damaging	Het
Zfp276	A	T	8: 123,982,520 (GRCm39)	I95F	probably damaging	Het
Zfp330	T	C	8: 83,490,865 (GRCm39)	E315G	probably benign	Het
Zfp683	C	A	4: 133,781,862 (GRCm39)	P56Q	probably damaging	Het
Zpld1	T	A	16: 55,052,646 (GRCm39)	S323C	possibly 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
R0318:C3	UTSW	17	57,531,709 (GRCm39)	missense	probably damaging	0.99
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
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'- CCTCAGGCAAGGATGTAGAATG -3'
(R):5'- CGTCTTGATAGCAATACATCTGTAG -3'

Sequencing Primer
(F):5'- GCCAGAACCTTCGTGTGAAAGTC -3'
(R):5'- TGATAGCAATACATCTGTAGAACATG -3'

Posted On

2016-09-01