Mutagenetix > Incidental Mutation

Incidental Mutation 'R7777:Ldlrad4'

598973

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

045833-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7777 (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: 99.2%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	C	T	12: 113,453,758 (GRCm39)	P192S	possibly damaging	Het
Arhgef10	A	G	8: 14,995,373 (GRCm39)	T353A	probably damaging	Het
Cabyr	A	G	18: 12,877,828 (GRCm39)	D55G	probably damaging	Het
Dcaf4	T	C	12: 83,584,733 (GRCm39)	V322A	probably damaging	Het
Ephb2	T	A	4: 136,498,947 (GRCm39)	E44V	possibly damaging	Het
Fam3c	T	C	6: 22,328,573 (GRCm39)	I105V	probably benign	Het
Fras1	A	G	5: 96,900,763 (GRCm39)	D2994G	probably damaging	Het
Fryl	C	T	5: 73,228,641 (GRCm39)	D1697N	probably damaging	Het
Gapdh	A	T	6: 125,139,911 (GRCm39)	Y164*	probably null	Het
Gm4353	T	G	7: 115,682,998 (GRCm39)	Q194H	possibly damaging	Het
Ilvbl	T	A	10: 78,413,085 (GRCm39)		probably null	Het
Ism2	T	A	12: 87,333,658 (GRCm39)		probably null	Het
Jak2	C	T	19: 29,254,268 (GRCm39)	T196I	probably benign	Het
Lcor	T	G	19: 41,547,234 (GRCm39)	Y273D	probably benign	Het
Lysmd4	T	A	7: 66,873,446 (GRCm39)	M27K	possibly damaging	Het
Muc17	G	A	5: 137,175,564 (GRCm39)		silent	Het
Or11h4b	A	T	14: 50,918,261 (GRCm39)	Y277N	probably damaging	Het
Or13a25	T	A	7: 140,247,854 (GRCm39)	I211N	probably benign	Het
Or5m10	A	G	2: 85,717,951 (GRCm39)	E269G	possibly damaging	Het
Oscp1	T	C	4: 125,958,774 (GRCm39)		probably null	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Pkd2l2	C	A	18: 34,549,913 (GRCm39)	P186Q	probably damaging	Het
Plcb1	G	A	2: 135,062,677 (GRCm39)	G96R	possibly damaging	Het
Plcd3	G	C	11: 102,965,481 (GRCm39)	R535G	probably benign	Het
Plcg1	A	G	2: 160,596,523 (GRCm39)	M681V	possibly damaging	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Polrmt	A	T	10: 79,575,022 (GRCm39)	D836E	probably benign	Het
Pramel12	T	C	4: 143,144,331 (GRCm39)	Y226H	possibly damaging	Het
Prkag1	A	T	15: 98,712,478 (GRCm39)	I149N	probably damaging	Het
Prkci	A	T	3: 31,104,362 (GRCm39)	Q575L	possibly damaging	Het
Prss40	C	T	1: 34,591,846 (GRCm39)	W276*	probably null	Het
Ptprn	T	C	1: 75,228,946 (GRCm39)	D823G	possibly damaging	Het
Radil	A	C	5: 142,529,303 (GRCm39)	F131C	probably damaging	Het
Rif1	A	G	2: 52,006,368 (GRCm39)	I550V	probably benign	Het
Rmnd1	T	C	10: 4,361,713 (GRCm39)	E320G	probably damaging	Het
Sec31b	T	A	19: 44,512,212 (GRCm39)	K561*	probably null	Het
Spata31g1	C	T	4: 42,970,171 (GRCm39)	Q53*	probably null	Het
Spata31g1	T	C	4: 42,971,095 (GRCm39)	S143P	probably benign	Het
Tbx5	A	C	5: 120,021,232 (GRCm39)	T413P	probably benign	Het
Tmprss7	A	G	16: 45,480,963 (GRCm39)		probably null	Het
Tnfaip8l2	T	C	3: 95,047,307 (GRCm39)	*185W	probably null	Het
Tpst2	A	G	5: 112,457,560 (GRCm39)	E296G	possibly damaging	Het
Ubn2	T	A	6: 38,467,688 (GRCm39)	S801T	probably damaging	Het
Usp34	A	G	11: 23,332,638 (GRCm39)	S1141G		Het
Uts2r	A	G	11: 121,052,279 (GRCm39)	N381S	probably benign	Het
Vmn2r44	G	T	7: 8,381,314 (GRCm39)	T193K	possibly damaging	Het
Wdr18	T	A	10: 79,801,884 (GRCm39)	M223K	probably benign	Het
Wdr64	T	C	1: 175,617,564 (GRCm39)	C715R	possibly damaging	Het
Zfp672	A	G	11: 58,208,081 (GRCm39)	F80S	possibly damaging	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
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
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'- CCATGCAGCCGTTTTATGAC -3'
(R):5'- AAGTGGGCTATCCTACCCTCTAG -3'

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

Posted On

2019-11-26