Mutagenetix > Incidental Mutation

Incidental Mutation 'R4052:Ldlrad3'

314185

Institutional Source

Beutler Lab

Gene Symbol

Ldlrad3

Ensembl Gene

ENSMUSG00000048058

Gene Name

low density lipoprotein receptor class A domain containing 3

Synonyms

Lrad3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R4052 ()

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101780548-102016730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101783507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 240 (D240N)

Ref Sequence

ENSEMBL: ENSMUSP00000106853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058790] [ENSMUST00000111222]

AlphaFold

A2AR95

Predicted Effect

probably damaging
Transcript: ENSMUST00000058790
AA Change: D272N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054134
Gene: ENSMUSG00000048058
AA Change: D272N

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
LDLa	28	66	5.18e-12	SMART
LDLa	70	108	2.82e-13	SMART
LDLa	112	149	1.26e-10	SMART
transmembrane domain	172	194	N/A	INTRINSIC
low complexity region	295	318	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111222
AA Change: D240N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106853
Gene: ENSMUSG00000048058
AA Change: D240N

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
LDLa	38	76	2.82e-13	SMART
LDLa	80	117	1.26e-10	SMART
transmembrane domain	140	162	N/A	INTRINSIC
low complexity region	263	286	N/A	INTRINSIC

Meta Mutation Damage Score

0.1294

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	T	G	13: 119,624,738 (GRCm39)		probably benign	Het
Abca8b	G	A	11: 109,872,551 (GRCm39)	Q17*	probably null	Het
Abcc6	A	C	7: 45,635,987 (GRCm39)	L1020R	probably damaging	Het
Ace2	A	G	X: 162,952,581 (GRCm39)	I110V	probably benign	Het
Adam29	T	C	8: 56,325,317 (GRCm39)	Y379C	probably damaging	Het
Apol10a	A	T	15: 77,373,185 (GRCm39)	I274L	probably benign	Het
BC005537	T	A	13: 24,993,881 (GRCm39)	F119I	possibly damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Cts3	T	A	13: 61,716,535 (GRCm39)	I34L	probably benign	Het
Cyp4a30b	A	G	4: 115,311,539 (GRCm39)	D69G	probably benign	Het
Dclk2	A	G	3: 86,738,129 (GRCm39)		probably null	Het
Dhx30	A	G	9: 109,929,889 (GRCm39)	V69A	possibly damaging	Het
Dis3	T	G	14: 99,332,752 (GRCm39)	I227L	probably benign	Het
Dock3	A	G	9: 106,850,995 (GRCm39)	S836P	probably damaging	Het
Efhc2	T	C	X: 17,096,789 (GRCm39)	N186S	possibly damaging	Het
Erap1	A	G	13: 74,823,459 (GRCm39)	N831S	probably benign	Het
Gimap3	T	A	6: 48,743,447 (GRCm39)	T3S	possibly damaging	Het
Gpr82	C	T	X: 13,531,898 (GRCm39)	P149S	probably damaging	Het
H3f3a	C	T	1: 180,630,703 (GRCm39)	R117H	probably benign	Het
Hcn2	A	C	10: 79,569,521 (GRCm39)		probably null	Het
Helz2	A	G	2: 180,882,268 (GRCm39)	L175P	probably damaging	Het
Il36b	T	C	2: 24,049,844 (GRCm39)	F152L	probably damaging	Het
Ino80b	G	C	6: 83,099,314 (GRCm39)	P178R	probably damaging	Het
Lef1	A	G	3: 130,988,338 (GRCm39)	N236D	probably damaging	Het
Macf1	A	G	4: 123,365,810 (GRCm39)	S1419P	probably benign	Het
Me2	T	C	18: 73,924,156 (GRCm39)	K352R	probably benign	Het
Ncapd3	T	A	9: 27,000,679 (GRCm39)		probably null	Het
Or52n3	A	G	7: 104,530,810 (GRCm39)	T299A	probably damaging	Het
P2rx7	T	C	5: 122,804,340 (GRCm39)	F293S	probably damaging	Het
Pabpc1l	T	C	2: 163,885,533 (GRCm39)	W429R	probably benign	Het
Parp14	T	C	16: 35,678,771 (GRCm39)	E399G	probably benign	Het
Pde6h	A	G	6: 136,936,266 (GRCm39)	D3G	unknown	Het
Pfkfb1	A	T	X: 149,405,184 (GRCm39)	D208V	possibly damaging	Het
Rasgrp3	T	C	17: 75,803,963 (GRCm39)	F89L	probably damaging	Het
Rif1	A	T	2: 51,988,483 (GRCm39)	K741*	probably null	Het
Rnase4	A	G	14: 51,342,462 (GRCm39)	K62R	probably benign	Het
Rnf207	C	A	4: 152,395,894 (GRCm39)	Q533H	probably benign	Het
Slc24a2	A	G	4: 87,145,442 (GRCm39)	V204A	probably damaging	Het
Spry2	A	T	14: 106,130,635 (GRCm39)	C184S	probably damaging	Het
Sulf2	T	C	2: 165,936,510 (GRCm39)	Y152C	probably damaging	Het
Thrap3	G	A	4: 126,070,012 (GRCm39)	A625V	probably damaging	Het
Tmem39a	T	A	16: 38,406,650 (GRCm39)	V329D	probably damaging	Het
Trav7-3	A	G	14: 53,681,203 (GRCm39)	T82A	probably benign	Het
Trim30b	T	A	7: 104,006,685 (GRCm39)	Q57L	possibly damaging	Het
Uggt1	A	G	1: 36,203,570 (GRCm39)	V1020A	probably damaging	Het
Zfp941	T	G	7: 140,392,340 (GRCm39)	K340Q	possibly damaging	Het

Other mutations in Ldlrad3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03210:Ldlrad3	APN	2	101,900,271 (GRCm39)	splice site	probably benign
R4051:Ldlrad3	UTSW	2	101,783,507 (GRCm39)	missense	probably damaging	1.00
R4208:Ldlrad3	UTSW	2	101,783,507 (GRCm39)	missense	probably damaging	1.00
R4709:Ldlrad3	UTSW	2	101,900,343 (GRCm39)	missense	probably damaging	1.00
R4887:Ldlrad3	UTSW	2	101,943,881 (GRCm39)	missense	probably damaging	1.00
R4894:Ldlrad3	UTSW	2	101,888,293 (GRCm39)	missense	probably damaging	1.00
R4924:Ldlrad3	UTSW	2	101,900,328 (GRCm39)	missense	possibly damaging	0.91
R5084:Ldlrad3	UTSW	2	101,900,329 (GRCm39)	missense	probably damaging	1.00
R5224:Ldlrad3	UTSW	2	101,943,954 (GRCm39)	missense	probably damaging	0.96
R5631:Ldlrad3	UTSW	2	101,900,301 (GRCm39)	missense	probably damaging	1.00
R6714:Ldlrad3	UTSW	2	101,783,297 (GRCm39)	missense	probably benign
R6803:Ldlrad3	UTSW	2	101,943,892 (GRCm39)	missense	possibly damaging	0.89
R7200:Ldlrad3	UTSW	2	101,943,905 (GRCm39)	missense	probably damaging	0.98
R7200:Ldlrad3	UTSW	2	101,943,903 (GRCm39)	missense	probably damaging	0.98
R7340:Ldlrad3	UTSW	2	101,897,184 (GRCm39)	splice site	probably null
R7456:Ldlrad3	UTSW	2	101,785,270 (GRCm39)	missense	probably damaging	1.00
R9094:Ldlrad3	UTSW	2	101,888,326 (GRCm39)	missense	probably damaging	1.00
R9627:Ldlrad3	UTSW	2	101,785,423 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATATGGACTTTGGAATCGCTGG -3'
(R):5'- TCTCAGAACTGCCGTTGTTC -3'

Sequencing Primer
(F):5'- AGTCTCTGGGCTCAGCAGAG -3'
(R):5'- AACTGCCGTTGTTCTTGGC -3'

Posted On

2015-04-30