Mutagenetix > Incidental Mutation

Incidental Mutation 'R2153:Cd46'

234466

Institutional Source

Beutler Lab

Gene Symbol

Cd46

Ensembl Gene

ENSMUSG00000016493

Gene Name

CD46 antigen, complement regulatory protein

Synonyms

CD46, Mcp

MMRRC Submission

040156-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2153 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

194719134-194774557 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 194744721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 339 (I339T)

Ref Sequence

ENSEMBL: ENSMUSP00000123931 (fasta)

Gene Model

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

AlphaFold

O88174

Predicted Effect

probably benign
Transcript: ENSMUST00000159563

SMART Domains

Protein: ENSMUSP00000123901
Gene: ENSMUSG00000016493

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

noncoding transcript
Transcript: ENSMUST00000161772

Predicted Effect

probably benign
Transcript: ENSMUST00000162650
AA Change: I339T

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123931
Gene: ENSMUSG00000016493
AA Change: I339T

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,208,959 (GRCm39)	E363G	probably benign	Het
Abcg2	T	A	6: 58,661,307 (GRCm39)		probably null	Het
Adgrg7	T	G	16: 56,572,791 (GRCm39)	I342L	possibly damaging	Het
Akap6	A	C	12: 53,188,187 (GRCm39)	D1867A	probably benign	Het
Ankrd17	A	T	5: 90,381,918 (GRCm39)	V2416D	probably damaging	Het
Apaf1	A	G	10: 90,883,952 (GRCm39)	V670A	probably damaging	Het
Art5	A	G	7: 101,747,407 (GRCm39)	L124P	possibly damaging	Het
Atad5	T	A	11: 79,997,203 (GRCm39)	D842E	probably benign	Het
Brd10	T	C	19: 29,694,229 (GRCm39)	M1755V	probably benign	Het
Capns1	A	G	7: 29,891,765 (GRCm39)	L124P	probably damaging	Het
Carmil1	A	G	13: 24,325,656 (GRCm39)	S225P	probably damaging	Het
Cars2	C	T	8: 11,580,299 (GRCm39)	A247T	possibly damaging	Het
Ceacam14	C	A	7: 17,548,153 (GRCm39)	T81N	probably benign	Het
Ceacam16	G	A	7: 19,595,066 (GRCm39)	P4L	probably benign	Het
Chek1	C	A	9: 36,635,279 (GRCm39)	V35F	probably damaging	Het
Cntnap5c	A	T	17: 58,362,666 (GRCm39)	I340L	possibly damaging	Het
Col2a1	C	A	15: 97,885,461 (GRCm39)	A461S	unknown	Het
Comtd1	T	C	14: 21,898,340 (GRCm39)	E27G	possibly damaging	Het
Cyp2a12	A	G	7: 26,732,042 (GRCm39)	N261S	probably benign	Het
Dclk1	A	G	3: 55,154,633 (GRCm39)	Y21C	probably damaging	Het
Dis3l	T	A	9: 64,214,545 (GRCm39)	N981I	probably benign	Het
Dlg5	A	T	14: 24,187,225 (GRCm39)	I1819N	probably damaging	Het
Elp1	T	A	4: 56,779,636 (GRCm39)		probably null	Het
Enpep	T	C	3: 129,074,231 (GRCm39)	N772S	probably damaging	Het
Erich1	T	C	8: 14,128,773 (GRCm39)	T56A	probably benign	Het
Ermp1	T	C	19: 29,614,798 (GRCm39)		probably null	Het
Etl4	A	G	2: 20,803,545 (GRCm39)	E807G	probably benign	Het
Fat4	A	T	3: 39,037,544 (GRCm39)	Y3732F	probably damaging	Het
Fbxw18	T	G	9: 109,522,438 (GRCm39)	T144P	probably damaging	Het
Flywch1	A	T	17: 23,974,624 (GRCm39)	I672K	probably benign	Het
Foxk2	C	A	11: 121,151,213 (GRCm39)	A86E	probably benign	Het
Garem2	T	C	5: 30,313,297 (GRCm39)	S54P	probably damaging	Het
Gda	A	G	19: 21,374,869 (GRCm39)		probably null	Het
Gna15	T	C	10: 81,338,738 (GRCm39)	Y367C	probably damaging	Het
Golga3	A	G	5: 110,335,856 (GRCm39)		probably null	Het
Greb1	T	C	12: 16,749,533 (GRCm39)	S1098G	probably damaging	Het
Hook3	C	A	8: 26,560,225 (GRCm39)	L333F	probably damaging	Het
Il6	C	T	5: 30,218,502 (GRCm39)	Q33*	probably null	Het
Iqgap1	T	C	7: 80,401,701 (GRCm39)	E468G	probably benign	Het
Iqgap1	A	G	7: 80,409,651 (GRCm39)	I228T	possibly damaging	Het
Kat6b	A	T	14: 21,718,735 (GRCm39)	H1138L	probably benign	Het
Kcnab1	A	T	3: 65,278,861 (GRCm39)	I371F	probably damaging	Het
Kcnj10	A	T	1: 172,197,455 (GRCm39)	Y323F	possibly damaging	Het
Klk1b5	T	C	7: 43,869,322 (GRCm39)		probably null	Het
Lmo7	A	G	14: 102,157,951 (GRCm39)		probably benign	Het
Loxhd1	A	T	18: 77,443,862 (GRCm39)	T277S	possibly damaging	Het
Lrp5	A	T	19: 3,664,339 (GRCm39)	M796K	probably benign	Het
Med15	A	T	16: 17,503,315 (GRCm39)		probably null	Het
Mfn1	T	A	3: 32,596,975 (GRCm39)	H144Q	probably damaging	Het
Mmp25	T	A	17: 23,850,048 (GRCm39)	Y504F	probably damaging	Het
Nmi	T	C	2: 51,842,555 (GRCm39)	E179G	probably damaging	Het
Nrxn2	T	C	19: 6,554,944 (GRCm39)	I1141T	probably damaging	Het
Olah	T	C	2: 3,366,306 (GRCm39)	S9G	probably benign	Het
Or1m1	T	C	9: 18,666,391 (GRCm39)	D180G	probably damaging	Het
Or4c106	C	A	2: 88,683,128 (GRCm39)	P278H	probably damaging	Het
Or5b120	T	G	19: 13,479,852 (GRCm39)	I48M	probably damaging	Het
Or8b49	G	T	9: 38,505,707 (GRCm39)	L63F	probably damaging	Het
Or8k22	A	C	2: 86,162,872 (GRCm39)	F276C	probably damaging	Het
Otog	T	A	7: 45,952,328 (GRCm39)	C2591S	probably damaging	Het
Pdgfrb	G	T	18: 61,205,828 (GRCm39)	V605F	probably damaging	Het
Pik3cb	T	A	9: 98,983,297 (GRCm39)	K104*	probably null	Het
Plb1	T	A	5: 32,471,433 (GRCm39)	I580N	probably damaging	Het
Plekha2	T	C	8: 25,578,413 (GRCm39)	Y29C	probably damaging	Het
Plekha7	T	A	7: 115,775,002 (GRCm39)	Y213F	probably damaging	Het
Plin5	T	C	17: 56,423,836 (GRCm39)	D33G	probably benign	Het
Pnpla2	C	A	7: 141,039,132 (GRCm39)	Q371K	probably damaging	Het
Ppm1n	A	G	7: 19,012,110 (GRCm39)	Y348H	probably damaging	Het
Ppp2r1b	T	A	9: 50,777,854 (GRCm39)	D266E	probably damaging	Het
Prss23	A	G	7: 89,159,119 (GRCm39)	S317P	probably damaging	Het
Prss33	C	T	17: 24,053,817 (GRCm39)	V87M	probably damaging	Het
Ptpn12	C	A	5: 21,207,466 (GRCm39)	Q297H	probably damaging	Het
Pum1	G	T	4: 130,478,802 (GRCm39)	A571S	probably damaging	Het
Rexo1	G	T	10: 80,379,943 (GRCm39)	C13*	probably null	Het
Rhpn1	A	T	15: 75,576,243 (GRCm39)	M1L	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ripk2	A	G	4: 16,132,775 (GRCm39)		probably null	Het
Rps6kc1	T	C	1: 190,530,920 (GRCm39)	Y937C	probably damaging	Het
Rrbp1	A	G	2: 143,796,118 (GRCm39)	L1200P	possibly damaging	Het
Ryr2	A	G	13: 11,592,759 (GRCm39)	I4665T	possibly damaging	Het
Sbno1	C	A	5: 124,516,606 (GRCm39)	V1256F	probably benign	Het
Senp5	T	C	16: 31,787,692 (GRCm39)	I644V	probably damaging	Het
Serpinb9e	T	A	13: 33,436,961 (GRCm39)	F94I	probably damaging	Het
Sidt2	T	C	9: 45,856,638 (GRCm39)	D477G	probably damaging	Het
Slc30a5	A	T	13: 100,940,457 (GRCm39)	H619Q	probably damaging	Het
Slmap	A	G	14: 26,139,402 (GRCm39)	Y771H	probably damaging	Het
Sned1	T	A	1: 93,202,379 (GRCm39)	D674E	probably benign	Het
Sorl1	T	C	9: 41,895,788 (GRCm39)	H1789R	probably benign	Het
Sp2	T	C	11: 96,852,834 (GRCm39)	D30G	possibly damaging	Het
Stk33	T	A	7: 108,940,527 (GRCm39)	N61I	probably benign	Het
Stxbp1	T	A	2: 32,692,868 (GRCm39)	I383F	probably damaging	Het
Tbcd	A	G	11: 121,494,457 (GRCm39)	Q1006R	possibly damaging	Het
Tln2	T	C	9: 67,209,842 (GRCm39)	T432A	probably damaging	Het
Tnfrsf21	A	G	17: 43,398,763 (GRCm39)	D623G	probably damaging	Het
Trib2	A	G	12: 15,843,830 (GRCm39)	F271L	probably damaging	Het
Ttn	A	G	2: 76,810,477 (GRCm39)	V17A	probably benign	Het
Ubqlnl	A	T	7: 103,797,890 (GRCm39)	C536S	probably benign	Het
Vmn1r230	T	A	17: 21,067,063 (GRCm39)	M84K	probably damaging	Het
Vmn2r97	A	T	17: 19,167,584 (GRCm39)	R613*	probably null	Het
Yeats2	T	A	16: 19,972,916 (GRCm39)	D23E	probably damaging	Het
Zan	T	A	5: 137,434,662 (GRCm39)	I2214F	unknown	Het
Zbtb40	T	C	4: 136,718,946 (GRCm39)	D917G	probably damaging	Het
Zcchc2	C	A	1: 105,949,453 (GRCm39)		probably null	Het
Zdhhc23	G	T	16: 43,794,282 (GRCm39)	Q131K	probably benign	Het
Zfp345	T	C	2: 150,314,578 (GRCm39)	T320A	probably benign	Het
Zfp532	A	G	18: 65,757,998 (GRCm39)	T644A	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
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
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'- TCACACAGATCCTTATGCTGC -3'
(R):5'- CTGTAGTTCCAGCTACACAGAGAAAC -3'

Sequencing Primer
(F):5'- CAGATCCTTATGCTGCAATGATGTC -3'
(R):5'- GCTACACAGAGAAACCCTGTCTTG -3'

Posted On

2014-10-01