Mutagenetix > Incidental Mutation

Incidental Mutation 'R4208:Ldlrad3'

319009

Institutional Source

Beutler Lab

Gene Symbol

Ldlrad3

Ensembl Gene

ENSMUSG00000048058

Gene Name

low density lipoprotein receptor class A domain containing 3

Synonyms

Lrad3

MMRRC Submission

041037-MU

Accession Numbers

Essential gene?

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

Stock #

R4208 (G1)

Quality Score

225

Status

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.1%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	C	19: 31,910,060 (GRCm39)	L284P	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
Adamts12	A	G	15: 11,071,840 (GRCm39)	H128R	probably benign	Het
Aoc1l2	A	T	6: 48,908,581 (GRCm39)	D527V	probably damaging	Het
Apol9a	G	C	15: 77,288,596 (GRCm39)	T257S	probably benign	Het
B4galnt3	A	G	6: 120,192,063 (GRCm39)	S557P	probably damaging	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Casp12	T	C	9: 5,346,629 (GRCm39)	L52P	probably damaging	Het
Cep126	C	T	9: 8,100,822 (GRCm39)	E571K	probably damaging	Het
Cfhr1	A	G	1: 139,475,616 (GRCm39)		probably benign	Het
Cmah	A	G	13: 24,601,410 (GRCm39)		probably null	Het
Col10a1	C	T	10: 34,271,539 (GRCm39)	P504S	probably damaging	Het
Ctnna3	T	A	10: 64,795,557 (GRCm39)	D758E	probably benign	Het
Cyp2c65	T	C	19: 39,079,099 (GRCm39)	S393P	probably damaging	Het
Dclk2	A	G	3: 86,738,129 (GRCm39)		probably null	Het
Dis3	T	G	14: 99,332,752 (GRCm39)	I227L	probably benign	Het
Efhc2	T	C	X: 17,096,789 (GRCm39)	N186S	possibly damaging	Het
F13b	G	T	1: 139,444,079 (GRCm39)	W471L	probably damaging	Het
Fam181a	A	G	12: 103,282,173 (GRCm39)	D26G	probably damaging	Het
Gabpb2	A	G	3: 95,111,245 (GRCm39)		probably benign	Het
Gm7293	A	G	9: 51,534,879 (GRCm39)		noncoding transcript	Het
H3f3a	C	T	1: 180,630,703 (GRCm39)	R117H	probably benign	Het
Ino80b	G	C	6: 83,099,314 (GRCm39)	P178R	probably damaging	Het
Kif3b	G	A	2: 153,165,477 (GRCm39)	R628Q	probably damaging	Het
Lars1	T	C	18: 42,362,768 (GRCm39)	E557G	probably benign	Het
Lingo2	T	C	4: 35,709,810 (GRCm39)	I57V	probably benign	Het
Lsr	A	G	7: 30,672,519 (GRCm39)	I27T	probably benign	Het
Me2	T	C	18: 73,924,156 (GRCm39)	K352R	probably benign	Het
Met	T	C	6: 17,548,728 (GRCm39)	V924A	possibly damaging	Het
Mpp3	T	C	11: 101,891,426 (GRCm39)	T571A	probably benign	Het
Or4c1	A	T	2: 89,133,270 (GRCm39)	I222N	probably damaging	Het
Or52n3	A	G	7: 104,530,810 (GRCm39)	T299A	probably damaging	Het
Padi1	C	A	4: 140,544,538 (GRCm39)	V552L	possibly damaging	Het
Pfkfb1	A	T	X: 149,405,184 (GRCm39)	D208V	possibly damaging	Het
Rnase4	A	G	14: 51,342,462 (GRCm39)	K62R	probably benign	Het
RP24-126A19.1	C	A	5: 146,832,606 (GRCm39)	R123L	noncoding transcript	Het
Scn10a	T	A	9: 119,445,842 (GRCm39)	E1438V	probably damaging	Het
Sfmbt2	T	A	2: 10,547,793 (GRCm39)	D458E	probably damaging	Het
Slitrk3	T	A	3: 72,958,490 (GRCm39)	Y94F	possibly damaging	Het
Sstr2	A	C	11: 113,515,482 (GRCm39)	T134P	probably damaging	Het
Steap4	A	G	5: 8,030,404 (GRCm39)	Y420C	probably damaging	Het
Tamm41	AGGG	AGG	6: 114,989,320 (GRCm39)		probably benign	Het
Trav7-3	A	G	14: 53,681,203 (GRCm39)	T82A	probably benign	Het
Trbv23	A	T	6: 41,193,022 (GRCm39)	I6F	probably benign	Het
Vmn1r87	A	G	7: 12,866,185 (GRCm39)	V34A	probably benign	Het
Zc3h7a	C	T	16: 10,982,508 (GRCm39)	E6K	possibly damaging	Het
Zfp606	G	A	7: 12,228,102 (GRCm39)	C683Y	probably 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
R4052: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'- ATGGACTTTGGAATCGCTGG -3'
(R):5'- GGTCTCAGAACTGCCGTTGTTC -3'

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

Posted On

2015-06-10