Mutagenetix > Incidental Mutation

Incidental Mutation 'R0784:Cd46'

76746

Institutional Source

Beutler Lab

Gene Symbol

Cd46

Ensembl Gene

ENSMUSG00000016493

Gene Name

CD46 antigen, complement regulatory protein

Synonyms

CD46, Mcp

MMRRC Submission

038964-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0784 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

194719134-194774557 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 194774502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 11 (T11M)

Ref Sequence

ENSEMBL: ENSMUSP00000123901 (fasta)

Gene Model

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

AlphaFold

O88174

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159563
AA Change: T11M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123901
Gene: ENSMUSG00000016493
AA Change: T11M

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

possibly damaging
Transcript: ENSMUST00000162650
AA Change: T11M

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123931
Gene: ENSMUSG00000016493
AA Change: T11M

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 96.9%
20x: 92.1%

Validation Efficiency

97% (59/61)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	T	C	14: 54,890,985 (GRCm39)		probably benign	Het
Adamts2	C	T	11: 50,558,830 (GRCm39)	R182W	probably damaging	Het
Ahr	C	T	12: 35,558,141 (GRCm39)	G293D	possibly damaging	Het
Akna	G	T	4: 63,295,125 (GRCm39)	T1028K	probably benign	Het
Akp3	G	A	1: 87,055,593 (GRCm39)	G547R	unknown	Het
Aoc1l3	T	A	6: 48,964,235 (GRCm39)	M81K	possibly damaging	Het
Asic2	T	A	11: 80,784,815 (GRCm39)	M324L	possibly damaging	Het
Atf6	A	G	1: 170,537,516 (GRCm39)	F635L	probably benign	Het
Atp8b2	A	T	3: 89,864,380 (GRCm39)	V195E	probably damaging	Het
Bicd1	T	A	6: 149,414,861 (GRCm39)	C525S	probably damaging	Het
Cbfa2t3	A	G	8: 123,377,226 (GRCm39)		probably benign	Het
Cecr2	A	G	6: 120,735,110 (GRCm39)	H754R	possibly damaging	Het
Clcn3	G	T	8: 61,382,237 (GRCm39)	D450E	probably benign	Het
Cobl	T	G	11: 12,216,843 (GRCm39)		probably benign	Het
Cyba	T	A	8: 123,154,422 (GRCm39)	T34S	probably benign	Het
Dennd1a	A	G	2: 37,911,426 (GRCm39)	L187P	probably damaging	Het
Dennd4c	A	T	4: 86,763,145 (GRCm39)	Q1817L	probably benign	Het
Drosha	T	C	15: 12,867,764 (GRCm39)		probably benign	Het
Dync1li2	A	G	8: 105,169,130 (GRCm39)	S34P	probably damaging	Het
Emilin2	T	A	17: 71,582,282 (GRCm39)	D148V	possibly damaging	Het
Galnt11	A	G	5: 25,463,907 (GRCm39)	D393G	probably damaging	Het
Gm5435	T	A	12: 82,542,954 (GRCm39)		noncoding transcript	Het
Gpr176	C	T	2: 118,203,533 (GRCm39)	V46M	possibly damaging	Het
Gpr85	T	A	6: 13,836,748 (GRCm39)	H52L	probably benign	Het
Grn	T	C	11: 102,325,328 (GRCm39)	M246T	possibly damaging	Het
Hnrnpul2	T	C	19: 8,802,416 (GRCm39)	F428L	possibly damaging	Het
Hoxa13	G	C	6: 52,236,917 (GRCm39)	N278K	probably damaging	Het
Irx5	A	G	8: 93,087,118 (GRCm39)	D350G	probably benign	Het
Kat2a	C	T	11: 100,601,667 (GRCm39)	M249I	probably benign	Het
Klhl29	T	C	12: 5,131,251 (GRCm39)	Y782C	probably damaging	Het
Kmt2c	A	T	5: 25,515,893 (GRCm39)	F2650Y	probably benign	Het
Lrp2	A	G	2: 69,348,709 (GRCm39)	I754T	probably benign	Het
LTO1	A	T	7: 144,473,014 (GRCm39)	Y108F	probably benign	Het
Mpl	G	A	4: 118,303,603 (GRCm39)	P472S	possibly damaging	Het
Mtnr1b	A	G	9: 15,774,081 (GRCm39)	I326T	probably benign	Het
Myh9	A	G	15: 77,661,209 (GRCm39)		probably benign	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Myo9a	A	G	9: 59,803,828 (GRCm39)		probably benign	Het
Or2z2	T	A	11: 58,346,131 (GRCm39)	I215F	possibly damaging	Het
Or4ac1-ps1	T	A	2: 88,370,511 (GRCm39)		noncoding transcript	Het
Pcsk5	T	C	19: 17,692,133 (GRCm39)	M184V	probably benign	Het
Piezo2	T	A	18: 63,216,306 (GRCm39)	D1143V	probably damaging	Het
Prr36	G	T	8: 4,263,771 (GRCm39)		probably benign	Het
Rnf220	C	A	4: 117,135,195 (GRCm39)		probably benign	Het
Senp3	A	G	11: 69,571,274 (GRCm39)	L131P	probably damaging	Het
Shc4	A	C	2: 125,499,416 (GRCm39)	W354G	probably benign	Het
Slc6a15	A	G	10: 103,252,661 (GRCm39)		probably benign	Het
Smtnl2	T	C	11: 72,290,763 (GRCm39)	D394G	probably damaging	Het
Sry	G	T	Y: 2,662,731 (GRCm39)	Q310K	unknown	Het
St7l	A	G	3: 104,778,240 (GRCm39)	M126V	probably benign	Het
St8sia3	T	C	18: 64,404,772 (GRCm39)	W350R	probably damaging	Het
Stk35	A	T	2: 129,652,722 (GRCm39)	K408*	probably null	Het
Thsd7b	T	C	1: 129,523,096 (GRCm39)		probably benign	Het
Tmem106b	T	C	6: 13,084,252 (GRCm39)	V252A	probably damaging	Het
Trpm7	A	G	2: 126,687,992 (GRCm39)		probably null	Het
Ttf2	T	C	3: 100,870,026 (GRCm39)	D349G	probably benign	Het
Zfp386	T	A	12: 116,023,540 (GRCm39)	C419*	probably null	Het
Zfp541	A	G	7: 15,816,917 (GRCm39)		probably benign	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
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
R2000:Cd46	UTSW	1	194,760,012 (GRCm39)	missense	probably benign	0.00
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'- AGCCGTGCAATCTGCTACTGAC -3'
(R):5'- TTGAACTGAGGCCCCACCTTACTG -3'

Sequencing Primer
(F):5'- GAGGACTGAATGATCTCCATAGTCAC -3'
(R):5'- GCTACCAGTCACCAGCCTG -3'

Posted On

2013-10-16