Mutagenetix > Incidental Mutation

Incidental Mutation 'R7983:Ldlrad4'

651341

Institutional Source

Beutler Lab

Gene Symbol

Ldlrad4

Ensembl Gene

ENSMUSG00000024544

Gene Name

low density lipoprotein receptor class A domain containing 4

Synonyms

8230401C20Rik, A430108L08Rik, D18Ertd653e, D330030L18Rik

MMRRC Submission

046024-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7983 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68065345-68393621 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 68368740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 66 (A66S)

Ref Sequence

ENSEMBL: ENSMUSP00000068471 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063775]

AlphaFold

Q8BWJ4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063775
AA Change: A66S

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000068471
Gene: ENSMUSG00000024544
AA Change: A66S

Domain	Start	End	E-Value	Type
LDLa	14	49	3.69e-8	SMART
transmembrane domain	65	87	N/A	INTRINSIC

Meta Mutation Damage Score

0.0953

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

95% (39/41)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Casd1	G	T	6: 4,624,472 (GRCm39)	E422*	probably null	Het
Ccdc7a	T	C	8: 129,607,559 (GRCm39)	T1007A	possibly damaging	Het
Cdr1	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	X: 60,228,130 (GRCm39)		probably benign	Het
Cds2	T	G	2: 132,105,430 (GRCm39)		probably null	Het
Cfap100	G	A	6: 90,392,687 (GRCm39)	T141I		Het
Chd7	T	A	4: 8,752,628 (GRCm39)	M375K	unknown	Het
Chd7	T	A	4: 8,844,609 (GRCm39)	S1573T	possibly damaging	Het
Cplane1	T	A	15: 8,251,299 (GRCm39)	V1857E	probably benign	Het
Crybb2	T	C	5: 113,209,946 (GRCm39)	E139G	probably benign	Het
Csn2	T	C	5: 87,842,356 (GRCm39)	T224A	probably benign	Het
Csnk2b	T	C	17: 35,335,304 (GRCm39)	H231R	possibly damaging	Het
Cthrc1	A	G	15: 38,940,550 (GRCm39)	D51G	probably benign	Het
Cyp2a5	A	T	7: 26,539,866 (GRCm39)	T305S	probably benign	Het
Cyp4a29	A	T	4: 115,108,099 (GRCm39)	D307V	probably damaging	Het
Dhrs7b	T	C	11: 60,743,287 (GRCm39)	V188A	possibly damaging	Het
Dna2	A	G	10: 62,791,173 (GRCm39)	D224G	probably benign	Het
Dnah7b	T	A	1: 46,282,584 (GRCm39)	L2906M	probably damaging	Het
Eif4g3	A	T	4: 137,878,904 (GRCm39)	E545D	probably benign	Het
Foxq1	T	C	13: 31,743,972 (GRCm39)	F358S	possibly damaging	Het
Galnt16	C	T	12: 80,648,598 (GRCm39)	H557Y	probably benign	Het
Kcnb2	T	C	1: 15,383,004 (GRCm39)	M110T	probably damaging	Het
Nalcn	T	C	14: 123,830,409 (GRCm39)	I144V	probably benign	Het
Napsa	T	A	7: 44,234,751 (GRCm39)	N295K	possibly damaging	Het
Nup50l	C	A	6: 96,142,888 (GRCm39)	G52V	probably damaging	Het
Or2ag20	T	C	7: 106,464,958 (GRCm39)	V257A	probably benign	Het
Or5k1b	G	A	16: 58,581,377 (GRCm39)	S54F	probably benign	Het
Plch1	T	C	3: 63,615,164 (GRCm39)	D778G	probably damaging	Het
Pnlip	G	A	19: 58,668,491 (GRCm39)	V361I	probably benign	Het
Pou4f2	G	T	8: 79,161,568 (GRCm39)	A345E	probably benign	Het
Prr11	C	T	11: 86,982,637 (GRCm39)	D365N	possibly damaging	Het
Ptprq	G	T	10: 107,444,272 (GRCm39)	S1444*	probably null	Het
R3hdm4	A	T	10: 79,748,557 (GRCm39)	V129E	probably damaging	Het
Retnlg	T	C	16: 48,693,261 (GRCm39)	S13P	probably damaging	Het
Rgmb	T	C	17: 16,041,189 (GRCm39)	T133A	possibly damaging	Het
Rin3	A	C	12: 102,335,418 (GRCm39)	H443P	probably benign	Het
Rnf152	T	C	1: 105,212,089 (GRCm39)	D156G	probably benign	Het
Sfmbt1	A	G	14: 30,519,673 (GRCm39)		probably null	Het
Slc25a46	G	A	18: 31,716,483 (GRCm39)	R340C	probably damaging	Het
Sp4	A	T	12: 118,264,967 (GRCm39)	M1K	probably null	Het
Ss18l2	T	C	9: 121,541,675 (GRCm39)	I64T	probably damaging	Het
Sult2a4	G	A	7: 13,649,152 (GRCm39)	S219F	probably damaging	Het
Tnip3	A	C	6: 65,515,630 (GRCm39)	D25A	probably damaging	Het
Trac	A	G	14: 54,458,214 (GRCm39)	T79A		Het
Vmn2r36	A	G	7: 7,905,415 (GRCm39)	L16P	probably damaging	Het
Zswim2	A	G	2: 83,753,911 (GRCm39)		probably null	Het

Other mutations in Ldlrad4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02939:Ldlrad4	APN	18	68,387,585 (GRCm39)	missense	probably damaging	1.00
IGL03140:Ldlrad4	APN	18	68,387,585 (GRCm39)	missense	probably damaging	1.00
R1566:Ldlrad4	UTSW	18	68,383,669 (GRCm39)	missense	probably benign
R1750:Ldlrad4	UTSW	18	68,239,758 (GRCm39)	missense	probably benign	0.11
R6347:Ldlrad4	UTSW	18	68,368,851 (GRCm39)	missense	probably benign	0.00
R7774:Ldlrad4	UTSW	18	68,368,863 (GRCm39)	nonsense	probably null
R7775:Ldlrad4	UTSW	18	68,368,827 (GRCm39)	missense	probably damaging	1.00
R7775:Ldlrad4	UTSW	18	68,368,740 (GRCm39)	missense	possibly damaging	0.50
R7777:Ldlrad4	UTSW	18	68,368,740 (GRCm39)	missense	possibly damaging	0.50
R7778:Ldlrad4	UTSW	18	68,368,740 (GRCm39)	missense	possibly damaging	0.50
R7812:Ldlrad4	UTSW	18	68,239,742 (GRCm39)	missense	probably benign	0.07
R7827:Ldlrad4	UTSW	18	68,387,495 (GRCm39)	missense	probably damaging	0.97
R7977:Ldlrad4	UTSW	18	68,368,740 (GRCm39)	missense	possibly damaging	0.50
R7984:Ldlrad4	UTSW	18	68,368,740 (GRCm39)	missense	possibly damaging	0.50
R7986:Ldlrad4	UTSW	18	68,368,740 (GRCm39)	missense	possibly damaging	0.50
R7987:Ldlrad4	UTSW	18	68,368,740 (GRCm39)	missense	possibly damaging	0.50
R8017:Ldlrad4	UTSW	18	68,368,740 (GRCm39)	missense	possibly damaging	0.50
R8018:Ldlrad4	UTSW	18	68,368,740 (GRCm39)	missense	possibly damaging	0.50
R8019:Ldlrad4	UTSW	18	68,368,740 (GRCm39)	missense	possibly damaging	0.50
R8020:Ldlrad4	UTSW	18	68,368,740 (GRCm39)	missense	possibly damaging	0.50
R8151:Ldlrad4	UTSW	18	68,383,643 (GRCm39)	missense	possibly damaging	0.54
R8154:Ldlrad4	UTSW	18	68,387,293 (GRCm39)	nonsense	probably null
R8157:Ldlrad4	UTSW	18	68,387,293 (GRCm39)	nonsense	probably null
R9083:Ldlrad4	UTSW	18	68,197,746 (GRCm39)	missense	probably benign	0.34
R9563:Ldlrad4	UTSW	18	68,387,551 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CATGCAGCCGTTTTATGACTGC -3'
(R):5'- AGTGGGCTATCCTACCCTCTAG -3'

Sequencing Primer
(F):5'- GCAGCCGTTTTATGACTGCATTTTC -3'
(R):5'- TGCCACACCCTGTCTGG -3'

Posted On

2020-09-15