Mutagenetix > Incidental Mutation

Incidental Mutation 'R8396:C3'

647628

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000024164

Gene Name

complement component 3

Synonyms

Plp, acylation stimulating protein, complement factor 3

MMRRC Submission

067812-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8396 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57510970-57535136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57528029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 730 (H730R)

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: H730R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000024988
Gene: ENSMUSG00000024164
AA Change: H730R

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

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

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
Arfgef3	A	G	10: 18,528,280 (GRCm39)		probably null	Het
Arid1a	T	C	4: 133,479,973 (GRCm39)	Y317C	probably damaging	Het
Asxl2	A	G	12: 3,552,220 (GRCm39)	T1321A	probably benign	Het
Bckdk	A	G	7: 127,504,931 (GRCm39)	Y129C	probably damaging	Het
Birc2	A	G	9: 7,834,301 (GRCm39)	V60A	probably benign	Het
Bmp8a	T	C	4: 123,218,952 (GRCm39)	H152R	probably benign	Het
Ccser1	T	A	6: 61,289,088 (GRCm39)	V417E	probably benign	Het
Cfap58	T	A	19: 48,017,540 (GRCm39)	M800K	probably damaging	Het
Clip1	A	G	5: 123,780,627 (GRCm39)	L352P	probably damaging	Het
Cr2	A	G	1: 194,840,376 (GRCm39)	L522P	probably damaging	Het
Ctcf	T	A	8: 106,393,379 (GRCm39)	H347Q	possibly damaging	Het
Gm13271	A	T	4: 88,673,318 (GRCm39)	M72L	probably benign	Het
Gpat4	GTGTT	GT	8: 23,669,498 (GRCm39)		probably benign	Het
Ighv5-8	C	T	12: 113,618,813 (GRCm39)	A76V	unknown	Het
Irx5	G	A	8: 93,086,962 (GRCm39)	G298D	probably benign	Het
Klf5	T	C	14: 99,539,670 (GRCm39)	I361T	possibly damaging	Het
Lsm11	G	A	11: 45,835,591 (GRCm39)	A50V	probably benign	Het
Map1b	T	C	13: 99,570,621 (GRCm39)	K700R	unknown	Het
Muc5b	A	T	7: 141,405,552 (GRCm39)	T954S	unknown	Het
Nhsl1	A	G	10: 18,400,910 (GRCm39)	N678S	probably benign	Het
Npsr1	T	A	9: 24,221,377 (GRCm39)	I277N	possibly damaging	Het
Ntsr2	A	G	12: 16,706,821 (GRCm39)	H283R	probably damaging	Het
Obscn	A	T	11: 58,893,829 (GRCm39)	I6746N	probably benign	Het
Obsl1	T	C	1: 75,480,350 (GRCm39)	T425A	probably benign	Het
Pag1	T	A	3: 9,759,112 (GRCm39)	E335D	probably benign	Het
Parp3	T	A	9: 106,351,447 (GRCm39)	Q223L	probably benign	Het
Pogz	T	C	3: 94,786,061 (GRCm39)	V883A	probably benign	Het
Rsbn1l	A	T	5: 21,132,665 (GRCm39)	M198K	probably benign	Het
Sh3bgr	A	G	16: 96,007,680 (GRCm39)		probably null	Het
Shc4	A	G	2: 125,471,617 (GRCm39)	I600T	probably damaging	Het
Slc26a1	T	C	5: 108,821,715 (GRCm39)	H74R	probably benign	Het
Slc7a11	A	C	3: 50,338,578 (GRCm39)	I277S	possibly damaging	Het
Tep1	G	T	14: 51,074,529 (GRCm39)	T1832N	probably benign	Het
Terf2	A	G	8: 107,809,613 (GRCm39)		probably null	Het
Tle4	G	A	19: 14,432,323 (GRCm39)	Q458*	probably null	Het
Trim34b	A	T	7: 103,979,083 (GRCm39)	D110V	probably damaging	Het
Usp9y	A	T	Y: 1,308,034 (GRCm39)	N2267K	possibly damaging	Het
Vmn2r50	G	A	7: 9,781,639 (GRCm39)	Q369*	probably null	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zfp229	T	C	17: 21,965,077 (GRCm39)	S436P	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
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
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
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'- AAGCCACCACTCATTCCTGG -3'
(R):5'- ATGGCTAAGGCTGACATCAG -3'

Sequencing Primer
(F):5'- TGGCCAGGTCCAGCACTG -3'
(R):5'- GGCTAAGGCTGACATCAGGTCTG -3'

Posted On

2020-09-02