Mutagenetix > Incidental Mutation

Incidental Mutation 'R2000:Cd46'

225809

Institutional Source

Beutler Lab

Gene Symbol

Cd46

Ensembl Gene

ENSMUSG00000016493

Gene Name

CD46 antigen, complement regulatory protein

Synonyms

CD46, Mcp

MMRRC Submission

040010-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2000 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

194719134-194774557 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 194760012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 280 (I280T)

Ref Sequence

ENSEMBL: ENSMUSP00000123901 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159563] [ENSMUST00000162650]

AlphaFold

O88174

Predicted Effect

probably benign
Transcript: ENSMUST00000159563
AA Change: I280T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000123901
Gene: ENSMUSG00000016493
AA Change: I280T

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
CCP	45	104	6.7e-3	SMART
CCP	109	168	3.87e-8	SMART
CCP	173	234	2.14e-10	SMART
CCP	239	294	1.06e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162650
AA Change: I280T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000123931
Gene: ENSMUSG00000016493
AA Change: I280T

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
CCP	45	104	6.7e-3	SMART
CCP	109	168	3.87e-8	SMART
CCP	173	234	2.14e-10	SMART
CCP	239	294	1.06e-14	SMART
transmembrane domain	328	350	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162951

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195553

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type I membrane protein and is a regulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, which protects the host cell from damage by complement. In addition, the encoded protein can act as a receptor for the Edmonston strain of measles virus, human herpesvirus-6, and type IV pili of pathogenic Neisseria. Finally, the protein encoded by this gene may be involved in the fusion of the spermatozoa with the oocyte during fertilization. Mutations at this locus have been associated with susceptibility to hemolytic uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]
PHENOTYPE: Homozygous mutation of this gene results in increased litter sizes sired by mutant males. Another homozygous null mouse shows increased susceptibility to induced choroid neovascularization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atf2	T	C	2: 73,693,584 (GRCm39)		probably null	Het
Atrn	T	C	2: 130,777,508 (GRCm39)	Y186H	probably damaging	Het
Birc6	T	C	17: 74,911,614 (GRCm39)	V1528A	possibly damaging	Het
Brpf3	A	C	17: 29,040,531 (GRCm39)	E984A	probably benign	Het
Btnl9	T	C	11: 49,059,948 (GRCm39)	N600S	probably benign	Het
Camk1d	A	T	2: 5,366,836 (GRCm39)	Y126*	probably null	Het
Casp8ap2	T	A	4: 32,634,874 (GRCm39)	L136H	probably damaging	Het
Cip2a	A	T	16: 48,835,332 (GRCm39)	Q699L	probably damaging	Het
Crebbp	A	T	16: 3,902,116 (GRCm39)	H2374Q	probably damaging	Het
Dock3	A	G	9: 106,870,160 (GRCm39)		probably benign	Het
Dph7	T	A	2: 24,861,653 (GRCm39)	D355E	probably benign	Het
Dync1li1	C	A	9: 114,542,631 (GRCm39)	F264L	probably benign	Het
Fer1l6	G	A	15: 58,474,160 (GRCm39)		probably benign	Het
Flt3	T	C	5: 147,278,048 (GRCm39)	D842G	probably damaging	Het
Fosl1	A	G	19: 5,500,383 (GRCm39)		probably benign	Het
Gabrr2	T	A	4: 33,084,400 (GRCm39)	I162N	probably damaging	Het
Gata6	T	C	18: 11,054,113 (GRCm39)	F14S	probably benign	Het
Gm15446	T	C	5: 110,090,677 (GRCm39)	S310P	possibly damaging	Het
Gmppa	A	C	1: 75,418,172 (GRCm39)	D190A	probably damaging	Het
Gpr108	C	T	17: 57,543,712 (GRCm39)	G455S	probably benign	Het
Gstm1	A	G	3: 107,922,127 (GRCm39)	F170S	probably damaging	Het
Gvin-ps6	G	A	7: 106,022,438 (GRCm39)	S188L	probably benign	Het
Gzf1	T	C	2: 148,526,531 (GRCm39)	I334T	probably benign	Het
Hadh	A	T	3: 131,038,888 (GRCm39)	I156K	probably benign	Het
Htr5a	G	A	5: 28,055,887 (GRCm39)	V293M	possibly damaging	Het
Ice1	C	T	13: 70,750,546 (GRCm39)	V47M	possibly damaging	Het
Ifnl3	G	T	7: 28,222,354 (GRCm39)	A32S	possibly damaging	Het
Itsn2	T	A	12: 4,716,176 (GRCm39)	Y978*	probably null	Het
Kif1a	G	T	1: 92,982,051 (GRCm39)	T792N	probably damaging	Het
Lgals9	T	C	11: 78,863,996 (GRCm39)	N50D	probably benign	Het
Lrp2	A	G	2: 69,297,434 (GRCm39)	Y3176H	probably damaging	Het
Lvrn	A	T	18: 47,038,374 (GRCm39)	N976I	probably benign	Het
Magea10	A	T	X: 71,426,379 (GRCm39)	I205K	probably benign	Het
Myo1c	A	T	11: 75,561,405 (GRCm39)	M820L	probably damaging	Het
Neb	A	T	2: 52,102,982 (GRCm39)	C4222*	probably null	Het
Nkain2	T	A	10: 32,766,281 (GRCm39)		probably benign	Het
Or10g6	A	G	9: 39,933,985 (GRCm39)	I99V	probably benign	Het
Or3a1b	A	G	11: 74,012,406 (GRCm39)	Y97C	probably benign	Het
Or5d16	G	A	2: 87,773,490 (GRCm39)	L161F	probably benign	Het
Parp4	C	T	14: 56,851,181 (GRCm39)	T728M	probably damaging	Het
Pnma8a	T	A	7: 16,694,964 (GRCm39)	V273D	probably benign	Het
Ppp1r9b	A	G	11: 94,887,446 (GRCm39)	E486G	probably damaging	Het
Pth2	C	A	7: 44,831,146 (GRCm39)	R98S	possibly damaging	Het
Ramacl	A	T	13: 67,056,214 (GRCm39)	N69I	possibly damaging	Het
Rif1	T	A	2: 51,971,310 (GRCm39)	F263I	probably damaging	Het
Rnf213	A	T	11: 119,326,848 (GRCm39)	I1613F	probably damaging	Het
Rsbn1l	G	A	5: 21,107,368 (GRCm39)	H549Y	probably damaging	Het
Rtl1	C	A	12: 109,560,321 (GRCm39)	W506L	probably damaging	Het
Slc4a4	C	T	5: 89,176,206 (GRCm39)	P59L	probably damaging	Het
Smarcad1	A	G	6: 65,050,200 (GRCm39)	E273G	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Ttf1	T	A	2: 28,955,197 (GRCm39)	L187Q	possibly damaging	Het
Ttn	A	T	2: 76,800,047 (GRCm39)	I387N	probably damaging	Het
Ufsp1	T	C	5: 137,293,166 (GRCm39)		probably null	Het
Uox	A	C	3: 146,316,154 (GRCm39)	K30Q	possibly damaging	Het
Ush1c	A	G	7: 45,870,857 (GRCm39)	S327P	probably damaging	Het
Wwc1	A	T	11: 35,767,374 (GRCm39)	L419Q	probably damaging	Het
Xrn1	C	T	9: 95,927,616 (GRCm39)	Q1463*	probably null	Het
Yeats2	G	A	16: 20,005,141 (GRCm39)	A393T	probably benign	Het
Zfp101	C	T	17: 33,600,491 (GRCm39)	A422T	possibly damaging	Het

Other mutations in Cd46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02429:Cd46	APN	1	194,767,732 (GRCm39)	missense	probably benign	0.01
IGL03029:Cd46	APN	1	194,768,451 (GRCm39)	missense	probably benign	0.43
R0269:Cd46	UTSW	1	194,746,996 (GRCm39)	missense	probably benign	0.00
R0375:Cd46	UTSW	1	194,768,472 (GRCm39)	missense	probably benign	0.00
R0627:Cd46	UTSW	1	194,774,494 (GRCm39)	missense	probably benign	0.03
R0784:Cd46	UTSW	1	194,774,502 (GRCm39)	missense	possibly damaging	0.96
R0892:Cd46	UTSW	1	194,764,920 (GRCm39)	missense	possibly damaging	0.78
R0973:Cd46	UTSW	1	194,724,300 (GRCm39)	makesense	probably null
R0973:Cd46	UTSW	1	194,724,300 (GRCm39)	makesense	probably null
R0974:Cd46	UTSW	1	194,724,300 (GRCm39)	makesense	probably null
R1224:Cd46	UTSW	1	194,744,706 (GRCm39)	missense	possibly damaging	0.66
R1716:Cd46	UTSW	1	194,760,117 (GRCm39)	missense	probably benign	0.21
R1863:Cd46	UTSW	1	194,765,931 (GRCm39)	missense	probably damaging	1.00
R2152:Cd46	UTSW	1	194,744,721 (GRCm39)	missense	probably benign	0.42
R2153:Cd46	UTSW	1	194,744,721 (GRCm39)	missense	probably benign	0.42
R4452:Cd46	UTSW	1	194,767,668 (GRCm39)	missense	possibly damaging	0.84
R4860:Cd46	UTSW	1	194,744,704 (GRCm39)	missense	possibly damaging	0.94
R4860:Cd46	UTSW	1	194,744,704 (GRCm39)	missense	possibly damaging	0.94
R4934:Cd46	UTSW	1	194,765,107 (GRCm39)	intron	probably benign
R5156:Cd46	UTSW	1	194,767,693 (GRCm39)	missense	possibly damaging	0.90
R5287:Cd46	UTSW	1	194,744,719 (GRCm39)	missense	possibly damaging	0.65
R5303:Cd46	UTSW	1	194,744,707 (GRCm39)	missense	probably benign
R5403:Cd46	UTSW	1	194,744,719 (GRCm39)	missense	possibly damaging	0.65
R5487:Cd46	UTSW	1	194,750,478 (GRCm39)	critical splice acceptor site	probably null
R5505:Cd46	UTSW	1	194,767,688 (GRCm39)	missense	possibly damaging	0.88
R5538:Cd46	UTSW	1	194,750,478 (GRCm39)	critical splice acceptor site	probably null
R6721:Cd46	UTSW	1	194,765,939 (GRCm39)	missense	probably damaging	1.00
R6731:Cd46	UTSW	1	194,765,775 (GRCm39)	splice site	probably null
R7226:Cd46	UTSW	1	194,724,314 (GRCm39)	missense	possibly damaging	0.84
R7633:Cd46	UTSW	1	194,765,927 (GRCm39)	missense	probably null	0.01
R8277:Cd46	UTSW	1	194,747,030 (GRCm39)	missense	probably damaging	0.96
R8672:Cd46	UTSW	1	194,764,949 (GRCm39)	missense	probably benign	0.09
R9153:Cd46	UTSW	1	194,774,479 (GRCm39)	missense	possibly damaging	0.88
R9435:Cd46	UTSW	1	194,767,720 (GRCm39)	missense	probably damaging	0.99
R9455:Cd46	UTSW	1	194,744,704 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CACAGGCCTGAGGTAAGTAC -3'
(R):5'- AAAATACCCTGTGTACTGGTGTAGG -3'

Sequencing Primer
(F):5'- GGCCTGAGGTAAGTACTAAATTATTG -3'
(R):5'- AGGGAGTCATGTGCTCATATATTTAG -3'

Posted On

2014-08-25