Mutagenetix > Incidental Mutation

Incidental Mutation 'R7778:Ldlrad4'

599037

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

045834-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7778 (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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,569,855 (GRCm39)	S524P	possibly damaging	Het
Aplf	A	C	6: 87,635,184 (GRCm39)		probably null	Het
Asb5	A	C	8: 55,037,827 (GRCm39)	H173P		Het
Atp6v0a2	A	G	5: 124,779,443 (GRCm39)	E186G	probably damaging	Het
Bbs2	A	T	8: 94,816,388 (GRCm39)		probably null	Het
Chrm5	A	G	2: 112,310,301 (GRCm39)	S272P	probably benign	Het
Chrna6	T	C	8: 27,897,392 (GRCm39)	I162V	probably damaging	Het
Cldn6	T	A	17: 23,900,581 (GRCm39)	C182S	probably damaging	Het
Cysltr2	A	G	14: 73,267,203 (GRCm39)	I169T	probably benign	Het
Ddx11	T	C	17: 66,437,543 (GRCm39)		probably null	Het
Efhc1	A	T	1: 21,049,685 (GRCm39)	Y515F	probably damaging	Het
Elmo1	A	G	13: 20,773,812 (GRCm39)		probably null	Het
Ep300	T	C	15: 81,470,887 (GRCm39)	S20P	unknown	Het
Gfpt2	T	G	11: 49,715,268 (GRCm39)	I421R	probably damaging	Het
Gm14226	T	A	2: 154,866,630 (GRCm39)	C196S	possibly damaging	Het
Grm8	T	C	6: 27,363,671 (GRCm39)	R615G	possibly damaging	Het
Hic1	C	T	11: 75,057,042 (GRCm39)	V616M	possibly damaging	Het
Ing1	A	G	8: 11,611,814 (GRCm39)	E178G	probably benign	Het
Kansl3	A	T	1: 36,387,758 (GRCm39)	L530H	probably damaging	Het
Kcna5	A	T	6: 126,511,768 (GRCm39)	L120*	probably null	Het
Kcnt1	T	G	2: 25,791,901 (GRCm39)	I617S	probably benign	Het
Lama1	T	A	17: 68,111,468 (GRCm39)	S2240T		Het
Lcn2	T	C	2: 32,277,927 (GRCm39)	D55G	probably benign	Het
Matn2	A	T	15: 34,399,223 (GRCm39)	H370L	possibly damaging	Het
Mettl23	T	G	11: 116,740,096 (GRCm39)	V189G	probably benign	Het
Mpp4	G	A	1: 59,162,672 (GRCm39)	T543M	not run	Het
Odf4	A	T	11: 68,812,898 (GRCm39)	S253R	probably benign	Het
Or10d4	C	A	9: 39,580,534 (GRCm39)	F60L	possibly damaging	Het
Or11h23	G	T	14: 50,947,928 (GRCm39)	C47F	possibly damaging	Het
Or7d9	A	G	9: 20,193,708 (GRCm39)		probably benign	Het
Or8b36	T	A	9: 37,937,963 (GRCm39)	I287N	probably damaging	Het
Or8g21	T	A	9: 38,906,203 (GRCm39)	H176L	probably damaging	Het
Pcdha11	A	T	18: 37,145,733 (GRCm39)	Y608F	possibly damaging	Het
Pcdhga5	A	G	18: 37,828,578 (GRCm39)	D342G	probably damaging	Het
Pde6d	A	G	1: 86,471,250 (GRCm39)	S143P	probably damaging	Het
Plec	A	T	15: 76,061,135 (GRCm39)	I2934N	probably damaging	Het
Primpol	G	T	8: 47,039,459 (GRCm39)	P387Q	probably damaging	Het
Prkcd	C	T	14: 30,327,772 (GRCm39)		probably null	Het
Prph2	T	C	17: 47,221,732 (GRCm39)	L37S	possibly damaging	Het
Prrt4	A	G	6: 29,177,718 (GRCm39)	L17P	probably damaging	Het
Pycr3	T	C	15: 75,790,138 (GRCm39)	D171G	probably damaging	Het
Rapsn	A	G	2: 90,875,293 (GRCm39)	T359A	probably benign	Het
Setd6	A	T	8: 96,442,866 (GRCm39)	H101L	probably benign	Het
Sez6	T	C	11: 77,865,375 (GRCm39)	S671P	probably damaging	Het
Son	T	C	16: 91,453,416 (GRCm39)	L721S	probably damaging	Het
Spata31d1b	A	T	13: 59,865,047 (GRCm39)	R732W	possibly damaging	Het
Srd5a3	T	A	5: 76,302,618 (GRCm39)	F328I	probably damaging	Het
Tfap2b	G	A	1: 19,304,531 (GRCm39)	G447D	probably damaging	Het
Thoc3	A	C	13: 54,611,591 (GRCm39)	F232C	probably damaging	Het
Tmem69	A	G	4: 116,410,595 (GRCm39)	L125P	probably damaging	Het
Tnfsf13	C	T	11: 69,575,989 (GRCm39)	V33M	probably damaging	Het
Togaram2	T	A	17: 72,011,746 (GRCm39)	M476K	probably benign	Het
Tube1	A	G	10: 39,018,294 (GRCm39)	I124V	probably benign	Het
Uevld	A	T	7: 46,576,100 (GRCm39)	I462N	probably damaging	Het
Utrn	G	A	10: 12,362,354 (GRCm39)	R2660C	probably damaging	Het
Vcan	T	C	13: 89,836,773 (GRCm39)	T2924A	probably damaging	Het
Vmn2r120	T	C	17: 57,832,942 (GRCm39)	Y79C	probably damaging	Het
Vwa8	T	C	14: 79,275,587 (GRCm39)	V790A	probably benign	Het
Zfp874b	A	G	13: 67,622,093 (GRCm39)	F402L	probably benign	Het
Zfp936	A	G	7: 42,839,720 (GRCm39)	T396A	possibly damaging	Het
Zfp978	T	C	4: 147,469,760 (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
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
R7983: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'- CCATGCAGCCGTTTTATGACTG -3'
(R):5'- AGTGGGCTATCCTACCCTCTAG -3'

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

Posted On

2019-11-26