Mutagenetix > Incidental Mutation

Incidental Mutation 'R8078:Ldlrad1'

629127

Institutional Source

Beutler Lab

Gene Symbol

Ldlrad1

Ensembl Gene

ENSMUSG00000070877

Gene Name

low density lipoprotein receptor class A domain containing 1

Synonyms

OTTMUSG00000008594

MMRRC Submission

067512-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8078 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107066377-107075257 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107066688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 8 (A8T)

Ref Sequence

ENSEMBL: ENSMUSP00000092521 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094916]

AlphaFold

D3YYZ1

Predicted Effect

probably benign
Transcript: ENSMUST00000094916
AA Change: A8T

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

SMART Domains

Protein: ENSMUSP00000092521
Gene: ENSMUSG00000070877
AA Change: A8T

Domain	Start	End	E-Value	Type
transmembrane domain	52	74	N/A	INTRINSIC
LDLa	89	128	1.01e-5	SMART
LDLa	135	172	5.97e-1	SMART
LDLa	175	217	2.85e-1	SMART

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 95.9%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,251,279 (GRCm39)	V2884I	probably benign	Het
Actl10	T	A	2: 154,394,490 (GRCm39)	N147K	probably benign	Het
Agpat2	C	A	2: 26,494,113 (GRCm39)	C37F	possibly damaging	Het
Alb	G	C	5: 90,615,214 (GRCm39)	R242P	probably damaging	Het
Ankrd26	T	A	6: 118,494,854 (GRCm39)		probably null	Het
Bcas1	T	C	2: 170,260,532 (GRCm39)	E49G	possibly damaging	Het
Birc2	A	G	9: 7,858,742 (GRCm39)	V331A	probably damaging	Het
Cadm3	A	G	1: 173,168,626 (GRCm39)	V314A	probably damaging	Het
Cep290	T	C	10: 100,408,749 (GRCm39)	V2407A	probably benign	Het
Chd5	C	A	4: 152,445,448 (GRCm39)	N446K	possibly damaging	Het
Clec9a	A	G	6: 129,385,996 (GRCm39)	S27G	probably benign	Het
Coro1c	G	T	5: 114,020,164 (GRCm39)	A17E	probably damaging	Het
Cspg4	T	C	9: 56,797,543 (GRCm39)	S1336P	possibly damaging	Het
Ddx55	G	A	5: 124,704,451 (GRCm39)	V353M	probably damaging	Het
Farp1	T	A	14: 121,513,712 (GRCm39)	S836T	probably benign	Het
Fbll1	G	T	11: 35,688,728 (GRCm39)	D178E	probably benign	Het
Flg2	T	G	3: 93,107,582 (GRCm39)	D22E	probably damaging	Het
Glis1	T	A	4: 107,425,099 (GRCm39)	C237S	probably damaging	Het
Gm5519	T	C	19: 33,800,357 (GRCm39)	V17A	possibly damaging	Het
Gucy2c	C	A	6: 136,674,919 (GRCm39)	G1055C	probably damaging	Het
Hspg2	T	C	4: 137,235,333 (GRCm39)	Y123H	probably damaging	Het
Idh1	T	A	1: 65,200,225 (GRCm39)	I380F	probably damaging	Het
Il23r	A	T	6: 67,400,577 (GRCm39)	N584K	probably damaging	Het
Irag1	T	C	7: 110,498,942 (GRCm39)	E363G	probably damaging	Het
Lama1	A	T	17: 68,098,289 (GRCm39)	T1829S		Het
Luzp2	T	A	7: 54,702,510 (GRCm39)	Y24*	probably null	Het
Masp2	A	T	4: 148,698,235 (GRCm39)	T439S	probably benign	Het
Meioc	G	A	11: 102,559,226 (GRCm39)	W49*	probably null	Het
Mtor	T	G	4: 148,552,744 (GRCm39)	I749S	probably benign	Het
Myo16	T	A	8: 10,612,078 (GRCm39)	V1241D	unknown	Het
Ncam2	G	T	16: 81,240,136 (GRCm39)	R199L	possibly damaging	Het
Nyap2	A	G	1: 81,218,772 (GRCm39)	S265G	possibly damaging	Het
Or4f15	T	A	2: 111,813,615 (GRCm39)	D268V	probably damaging	Het
Parp8	A	T	13: 117,061,519 (GRCm39)	F175I	probably damaging	Het
Pcnx1	A	G	12: 82,022,054 (GRCm39)	T823A		Het
Phc2	T	A	4: 128,604,855 (GRCm39)	I197N	probably damaging	Het
Plaat3	C	T	19: 7,556,526 (GRCm39)	T109I	probably benign	Het
Pot1a	T	C	6: 25,750,107 (GRCm39)	I518M	probably benign	Het
Prg2	T	A	2: 84,812,604 (GRCm39)	C105S	probably benign	Het
Rab39	A	G	9: 53,617,255 (GRCm39)	L54P	possibly damaging	Het
Rell1	T	A	5: 64,097,064 (GRCm39)		probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Slc4a4	T	C	5: 89,327,566 (GRCm39)	Y668H	probably benign	Het
Sncg	C	A	14: 34,096,727 (GRCm39)		probably benign	Het
Spata31d1b	A	G	13: 59,863,263 (GRCm39)	D137G	probably damaging	Het
Tas1r1	C	T	4: 152,112,803 (GRCm39)	G750D	probably damaging	Het
Tcea3	A	T	4: 135,981,825 (GRCm39)	D61V	probably damaging	Het
Tfap2c	T	A	2: 172,393,392 (GRCm39)	H102Q	probably damaging	Het
Tmem150a	T	A	6: 72,335,306 (GRCm39)	L95H	probably damaging	Het
Tnfrsf11a	A	T	1: 105,745,409 (GRCm39)	D149V	probably damaging	Het
Tsc22d2	C	A	3: 58,323,453 (GRCm39)	A115E	probably benign	Het
Vmn2r101	T	A	17: 19,810,507 (GRCm39)	F431Y	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r85	C	A	10: 130,265,364 (GRCm39)	E40*	probably null	Het
Zfp606	G	A	7: 12,214,942 (GRCm39)	A57T	possibly damaging	Het
Zfp760	T	C	17: 21,942,436 (GRCm39)	V537A	probably benign	Het

Other mutations in Ldlrad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00793:Ldlrad1	APN	4	107,075,086 (GRCm39)	missense	probably damaging	1.00
IGL03180:Ldlrad1	APN	4	107,075,032 (GRCm39)	missense	probably damaging	1.00
IGL03356:Ldlrad1	APN	4	107,072,035 (GRCm39)	missense	possibly damaging	0.93
R0458:Ldlrad1	UTSW	4	107,073,387 (GRCm39)	missense	probably damaging	1.00
R1556:Ldlrad1	UTSW	4	107,075,010 (GRCm39)	missense	probably benign	0.24
R1610:Ldlrad1	UTSW	4	107,072,072 (GRCm39)	missense	probably damaging	1.00
R1996:Ldlrad1	UTSW	4	107,072,158 (GRCm39)	nonsense	probably null
R4510:Ldlrad1	UTSW	4	107,066,715 (GRCm39)	missense	probably benign	0.00
R4511:Ldlrad1	UTSW	4	107,066,715 (GRCm39)	missense	probably benign	0.00
R7000:Ldlrad1	UTSW	4	107,066,777 (GRCm39)	missense	probably benign	0.14
R7795:Ldlrad1	UTSW	4	107,066,688 (GRCm39)	missense	probably benign	0.00
R7797:Ldlrad1	UTSW	4	107,066,688 (GRCm39)	missense	probably benign	0.00
R7964:Ldlrad1	UTSW	4	107,066,688 (GRCm39)	missense	probably benign	0.00
R7965:Ldlrad1	UTSW	4	107,066,688 (GRCm39)	missense	probably benign	0.00
R7990:Ldlrad1	UTSW	4	107,066,688 (GRCm39)	missense	probably benign	0.00
R8004:Ldlrad1	UTSW	4	107,066,688 (GRCm39)	missense	probably benign	0.00
R8005:Ldlrad1	UTSW	4	107,066,688 (GRCm39)	missense	probably benign	0.00
R8007:Ldlrad1	UTSW	4	107,066,688 (GRCm39)	missense	probably benign	0.00
R8077:Ldlrad1	UTSW	4	107,066,688 (GRCm39)	missense	probably benign	0.00
R8088:Ldlrad1	UTSW	4	107,066,688 (GRCm39)	missense	probably benign	0.00
R8089:Ldlrad1	UTSW	4	107,066,688 (GRCm39)	missense	probably benign	0.00
R8130:Ldlrad1	UTSW	4	107,066,688 (GRCm39)	missense	probably benign	0.00
R8883:Ldlrad1	UTSW	4	107,073,412 (GRCm39)	missense	probably damaging	1.00
X0066:Ldlrad1	UTSW	4	107,072,086 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCCACCTGAGATCCATGAGTACTG -3'
(R):5'- CAAGCAGCTGTCAGTATGGC -3'

Sequencing Primer
(F):5'- CCTGAGATCCATGAGTACTGAGAAGC -3'
(R):5'- TGAGTAGCCTCAGACACTCTC -3'

Posted On

2020-06-30