Mutagenetix > Incidental Mutation

Incidental Mutation 'R1716:Cd46'

190981

Institutional Source

Beutler Lab

Gene Symbol

Cd46

Ensembl Gene

ENSMUSG00000016493

Gene Name

CD46 antigen, complement regulatory protein

Synonyms

CD46, Mcp

MMRRC Submission

039749-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1716 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

194719134-194774557 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 194760117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 245 (Q245L)

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: Q245L

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123901
Gene: ENSMUSG00000016493
AA Change: Q245L

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: Q245L

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000123931
Gene: ENSMUSG00000016493
AA Change: Q245L

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 78,731,946 (GRCm39)	T2A	unknown	Het
Adgrf3	T	A	5: 30,402,549 (GRCm39)	Q493L	probably benign	Het
Ak6	T	C	13: 100,792,177 (GRCm39)	S207P	probably benign	Het
Ang	A	G	14: 51,338,937 (GRCm39)	D26G	probably benign	Het
Ang	T	C	14: 51,338,957 (GRCm39)	F33L	probably damaging	Het
Arhgef38	T	A	3: 132,846,598 (GRCm39)	Y389F	probably benign	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Bicd2	C	A	13: 49,531,786 (GRCm39)	H343N	probably benign	Het
Casp4	G	A	9: 5,308,919 (GRCm39)		probably null	Het
Cd22	A	G	7: 30,577,103 (GRCm39)	F68S	probably damaging	Het
Cntnap2	A	T	6: 47,084,826 (GRCm39)	R1096*	probably null	Het
Cntnap3	A	G	13: 64,909,816 (GRCm39)	V763A	probably damaging	Het
Cyp3a11	T	C	5: 145,805,776 (GRCm39)	T171A	probably benign	Het
Defa30	A	G	8: 21,625,431 (GRCm39)	Y65C	probably damaging	Het
Defb18	A	T	1: 18,306,875 (GRCm39)	M27K	probably benign	Het
Dnah17	A	G	11: 117,923,424 (GRCm39)	S4071P	probably benign	Het
Dnah7b	T	A	1: 46,230,943 (GRCm39)	D1400E	probably damaging	Het
Dpysl5	C	T	5: 30,935,338 (GRCm39)	T147I	probably benign	Het
Dsg4	C	T	18: 20,595,518 (GRCm39)	R574*	probably null	Het
Entrep2	A	T	7: 64,426,633 (GRCm39)		probably null	Het
Epm2a	A	G	10: 11,324,580 (GRCm39)	E223G	probably benign	Het
Etl4	T	C	2: 20,748,492 (GRCm39)	S75P	probably damaging	Het
Fbxw15	T	A	9: 109,386,204 (GRCm39)	M312L	probably benign	Het
Fcgr4	C	T	1: 170,847,672 (GRCm39)	T90I	probably damaging	Het
Fras1	T	A	5: 96,700,584 (GRCm39)	D201E	probably benign	Het
Gadl1	A	T	9: 115,835,576 (GRCm39)	K335*	probably null	Het
Gcsam	T	G	16: 45,440,356 (GRCm39)	V133G	probably damaging	Het
Gml	G	T	15: 74,685,665 (GRCm39)	L107I	possibly damaging	Het
Golga2	T	A	2: 32,192,909 (GRCm39)	L409Q	probably damaging	Het
Gtf2a1l	A	T	17: 89,002,008 (GRCm39)	Q241L	probably benign	Het
Gtf3c3	A	G	1: 54,438,419 (GRCm39)	Y799H	probably damaging	Het
Guca1b	T	G	17: 47,702,126 (GRCm39)		probably benign	Het
Igdcc4	C	A	9: 65,034,179 (GRCm39)	H617Q	probably damaging	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Itga2b	A	C	11: 102,351,603 (GRCm39)	I574S	probably benign	Het
Kcnk7	A	T	19: 5,756,859 (GRCm39)	I283F	probably damaging	Het
Kirrel3	T	A	9: 34,934,843 (GRCm39)	L450M	probably damaging	Het
Lmntd1	A	T	6: 145,365,600 (GRCm39)	S176R	probably damaging	Het
Lrrc39	C	T	3: 116,373,216 (GRCm39)	T292I	probably benign	Het
Ltbp1	A	T	17: 75,622,019 (GRCm39)	H801L	probably benign	Het
Macf1	T	A	4: 123,295,196 (GRCm39)	Q3318L	probably damaging	Het
Man1b1	T	A	2: 25,235,032 (GRCm39)	N282K	probably benign	Het
Map2k6	A	T	11: 110,388,727 (GRCm39)	E223V	probably damaging	Het
Marf1	C	A	16: 13,960,450 (GRCm39)	R531S	possibly damaging	Het
Mfge8	G	A	7: 78,792,191 (GRCm39)	R245C	probably damaging	Het
Mogat1	T	G	1: 78,514,681 (GRCm39)	N318K	probably benign	Het
Myh4	T	A	11: 67,141,135 (GRCm39)	S732R	possibly damaging	Het
Myt1l	T	A	12: 29,861,537 (GRCm39)	D106E	unknown	Het
Ndc1	T	C	4: 107,241,992 (GRCm39)	F302L	probably damaging	Het
Ndrg4	C	T	8: 96,438,956 (GRCm39)	A290V	probably benign	Het
Nfia	A	T	4: 97,951,365 (GRCm39)	K397N	probably damaging	Het
Nlrp4e	A	T	7: 23,020,458 (GRCm39)	Q315L	possibly damaging	Het
Oga	C	A	19: 45,740,613 (GRCm39)	K907N	probably benign	Het
Or10p22	A	C	10: 128,826,721 (GRCm39)	*313C	probably null	Het
Or1ad8	T	A	11: 50,898,679 (GRCm39)	N293K	probably damaging	Het
Peg3	T	C	7: 6,710,780 (GRCm39)	I1481V	possibly damaging	Het
Phldb2	C	T	16: 45,595,413 (GRCm39)	G883D	probably benign	Het
Pik3c2b	T	A	1: 133,022,564 (GRCm39)	Y1169N	probably damaging	Het
Plcl1	A	T	1: 55,734,997 (GRCm39)	I113F	probably damaging	Het
Pomt2	T	C	12: 87,171,610 (GRCm39)	I457V	probably benign	Het
Ppil1	T	C	17: 29,480,809 (GRCm39)	N38S	possibly damaging	Het
Prf1	A	G	10: 61,136,231 (GRCm39)	N169S	probably benign	Het
Prmt8	A	C	6: 127,703,486 (GRCm39)		probably null	Het
Ptprg	T	A	14: 12,154,360 (GRCm38)	S694T	probably benign	Het
Rab12	A	T	17: 66,807,315 (GRCm39)	M138K	possibly damaging	Het
Reln	T	C	5: 22,160,093 (GRCm39)	T2159A	probably damaging	Het
Retsat	A	T	6: 72,583,063 (GRCm39)	Y36F	probably damaging	Het
Rgs14	A	T	13: 55,526,696 (GRCm39)	Q116L	probably damaging	Het
Rlbp1	A	T	7: 79,025,684 (GRCm39)	N252K	probably damaging	Het
Rtraf	A	G	14: 19,862,242 (GRCm39)	L215P	probably damaging	Het
Sec1	A	T	7: 45,328,789 (GRCm39)	M86K	probably benign	Het
Sec24b	A	T	3: 129,834,665 (GRCm39)	S42T	possibly damaging	Het
Serpinb9d	T	C	13: 33,380,500 (GRCm39)	S129P	probably damaging	Het
Slc35f5	T	G	1: 125,512,269 (GRCm39)	D356E	possibly damaging	Het
Smpd4	T	C	16: 17,460,365 (GRCm39)	S694P	probably damaging	Het
Spag6	G	T	2: 18,750,420 (GRCm39)		probably null	Het
Spata31d1c	T	C	13: 65,181,030 (GRCm39)	I43T	possibly damaging	Het
Ssh1	T	C	5: 114,090,081 (GRCm39)	D314G	possibly damaging	Het
Tnfrsf17	G	A	16: 11,137,595 (GRCm39)	D111N	probably benign	Het
Ttn	A	G	2: 76,553,635 (GRCm39)	I30994T	probably damaging	Het
Ttn	A	T	2: 76,614,320 (GRCm39)	F8737L	probably damaging	Het
Ush1c	G	T	7: 45,845,152 (GRCm39)	F890L	probably benign	Het
Usp36	C	T	11: 118,162,957 (GRCm39)		probably null	Het
Vmn2r115	T	C	17: 23,566,795 (GRCm39)	Y436H	probably benign	Het
Vmn2r94	T	A	17: 18,477,635 (GRCm39)	M259L	probably benign	Het
Wwp1	T	C	4: 19,659,698 (GRCm39)	T197A	probably benign	Het
Zbtb37	T	A	1: 160,847,814 (GRCm39)	M398L	probably benign	Het
Zfp804b	C	T	5: 6,819,673 (GRCm39)	C1130Y	probably benign	Het
Zfp9	A	G	6: 118,441,712 (GRCm39)	C317R	probably damaging	Het
Zscan20	T	C	4: 128,480,334 (GRCm39)	H719R	probably 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
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'- CTGAAAGCTTGCTGCATCCTCTTACTAT -3'
(R):5'- TCCACAGTGCCTAGCCTAGCAAT -3'

Sequencing Primer
(F):5'- gtgctcttaatcactaagccatc -3'
(R):5'- TGGAAAATACCCTGTGTACTGG -3'

Posted On

2014-05-14