Mutagenetix > Incidental Mutation

Incidental Mutation 'R8328:C3'

644223

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000024164

Gene Name

complement component 3

Synonyms

Plp, acylation stimulating protein, complement factor 3

MMRRC Submission

067727-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8328 (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 57527973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 749 (S749G)

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: S749G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000024988
Gene: ENSMUSG00000024164
AA Change: S749G

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: 99.6%
20x: 98.8%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	A	T	6: 92,866,993 (GRCm39)	M682K	probably benign	Het
Ankdd1b	T	A	13: 96,591,374 (GRCm39)	I42F	possibly damaging	Het
Ankrd6	C	T	4: 32,810,215 (GRCm39)	E489K	probably benign	Het
Arhgef28	A	T	13: 98,187,517 (GRCm39)	H259Q	possibly damaging	Het
Atosb	T	C	4: 43,034,751 (GRCm39)	T323A	probably benign	Het
Celsr1	A	G	15: 85,806,445 (GRCm39)	S2338P	probably benign	Het
Ces2a	A	T	8: 105,463,998 (GRCm39)	N210I	probably damaging	Het
Cuzd1	A	T	7: 130,913,345 (GRCm39)	V424D	probably damaging	Het
Cyp2j11	T	A	4: 96,236,605 (GRCm39)	H67L	probably benign	Het
Dennd5b	A	G	6: 148,922,115 (GRCm39)	S800P	probably damaging	Het
Dmrta2	G	T	4: 109,837,206 (GRCm39)	L49F	unknown	Het
Dpy19l1	T	A	9: 24,386,686 (GRCm39)	K9*	probably null	Het
Dsc2	T	C	18: 20,165,576 (GRCm39)	H843R	possibly damaging	Het
Dsg1b	T	A	18: 20,510,007 (GRCm39)	F6I	probably benign	Het
Hck	C	T	2: 152,970,987 (GRCm39)	A83V	probably damaging	Het
Hdc	T	C	2: 126,443,803 (GRCm39)	E292G	probably damaging	Het
Ighv1-23	A	G	12: 114,728,116 (GRCm39)	L102P	probably damaging	Het
Kdm3b	G	A	18: 34,926,123 (GRCm39)	V88M	probably damaging	Het
Kremen2	A	G	17: 23,961,745 (GRCm39)	V254A	probably benign	Het
Lrrc8e	T	A	8: 4,285,641 (GRCm39)	I622N	probably damaging	Het
Megf8	A	G	7: 25,046,917 (GRCm39)	N1600S	probably benign	Het
Mical3	A	G	6: 120,912,138 (GRCm39)	I1907T	probably damaging	Het
Nr4a3	T	A	4: 48,051,323 (GRCm39)	Y26N	probably damaging	Het
Nrl	T	C	14: 55,758,163 (GRCm39)	E188G	probably damaging	Het
Or4d1	A	G	11: 87,804,985 (GRCm39)	M249T	possibly damaging	Het
Or9e1	T	A	11: 58,732,460 (GRCm39)	D173E	probably benign	Het
Polr1a	G	A	6: 71,897,718 (GRCm39)	E238K	probably benign	Het
Pramel26	A	G	4: 143,537,380 (GRCm39)	L317P	probably damaging	Het
Prr5	G	C	15: 84,587,387 (GRCm39)	*388S	probably null	Het
Rptor	A	G	11: 119,783,473 (GRCm39)	T1156A	probably benign	Het
Slc9c1	T	A	16: 45,398,227 (GRCm39)	I664K	probably damaging	Het
Stn1	C	A	19: 47,505,498 (GRCm39)	R152L	probably damaging	Het
Syde2	T	C	3: 145,721,496 (GRCm39)	V1121A	probably benign	Het
Vmn1r158	T	C	7: 22,489,487 (GRCm39)	T241A	probably damaging	Het
Vmn1r209	C	A	13: 22,990,643 (GRCm39)	V16L	probably benign	Het
Wdr19	A	G	5: 65,382,638 (GRCm39)	E454G	probably damaging	Het
Zan	C	T	5: 137,392,726 (GRCm39)	E4590K	unknown	Het
Zfp579	T	G	7: 4,997,866 (GRCm39)	H15P	unknown	Het
Zfp628	A	G	7: 4,922,813 (GRCm39)	N345S	probably benign	Het
Zfp944	T	A	17: 22,558,705 (GRCm39)	K181*	probably null	Het
Zscan5b	C	T	7: 6,236,946 (GRCm39)	P232S	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
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
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'- ACTCTTCTAGCAAACAGGTGC -3'
(R):5'- TGACAAGGGTCTTCGGAAGTG -3'

Sequencing Primer
(F):5'- CCATCACTGGGCAGTTGTG -3'
(R):5'- CAAGGGTCTTCGGAAGTGTTGTG -3'

Posted On

2020-09-02