Incidental Mutation 'R4924:Ldlrad3'
ID378843
Institutional Source Beutler Lab
Gene Symbol Ldlrad3
Ensembl Gene ENSMUSG00000048058
Gene Namelow density lipoprotein receptor class A domain containing 3
SynonymsLrad3
MMRRC Submission 042526-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #R4924 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location101950203-102186385 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 102069983 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 58 (R58H)
Ref Sequence ENSEMBL: ENSMUSP00000106853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058790] [ENSMUST00000111222]
Predicted Effect possibly damaging
Transcript: ENSMUST00000058790
AA Change: R90H

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000054134
Gene: ENSMUSG00000048058
AA Change: R90H

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000111222
AA Change: R58H

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106853
Gene: ENSMUSG00000048058
AA Change: R58H

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140238
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk G A 11: 120,011,525 H625Y probably damaging Het
Adamts4 C T 1: 171,259,074 R812W probably damaging Het
Ajuba A C 14: 54,571,599 probably null Het
Aox2 T A 1: 58,305,344 V532D probably damaging Het
Arpc1b G A 5: 145,126,815 S295N probably benign Het
Baiap2 A G 11: 119,997,024 S335G probably damaging Het
BC051142 C T 17: 34,459,977 P221L probably damaging Het
Brap T G 5: 121,665,255 N155K probably damaging Het
Btn1a1 A G 13: 23,464,226 probably benign Het
Ccl12 G A 11: 82,102,649 V38I probably benign Het
Cemip T C 7: 83,952,938 Y881C probably damaging Het
Cep128 T C 12: 91,022,400 silent Het
Chd5 A C 4: 152,366,429 D670A possibly damaging Het
Cmip T C 8: 117,257,255 Y52H probably benign Het
Dmtn A G 14: 70,617,959 I30T probably benign Het
Dscaml1 T A 9: 45,745,189 M1609K probably damaging Het
Edar C A 10: 58,629,375 E55D probably damaging Het
Ehmt1 A T 2: 24,839,722 I601N probably damaging Het
Fam120a A T 13: 48,902,096 N705K probably benign Het
Gm21718 G T 14: 51,312,835 noncoding transcript Het
Gnaz A G 10: 74,991,713 D99G probably benign Het
Helz G A 11: 107,602,339 G196D probably damaging Het
Hif1a T C 12: 73,939,557 S341P probably damaging Het
Hivep1 G T 13: 42,158,316 S1344I probably benign Het
Hspa1l T A 17: 34,977,856 Y290* probably null Het
Ift81 A G 5: 122,594,616 L285S possibly damaging Het
Inpp4b T A 8: 82,122,624 N891K probably damaging Het
Irx6 C T 8: 92,678,353 T283M probably benign Het
Kdm5b A G 1: 134,631,351 K1538E probably benign Het
Kif13a A G 13: 46,929,599 V8A probably damaging Het
Krtap15 T A 16: 88,829,148 N34K probably damaging Het
Lama2 T G 10: 27,369,141 I215L probably damaging Het
Lvrn C T 18: 46,894,725 P869L probably damaging Het
Myo1d A G 11: 80,674,678 F411S probably damaging Het
Myo5b T A 18: 74,695,384 H702Q probably benign Het
Nat8f4 G T 6: 85,901,419 Q41K probably benign Het
Nckap5 C A 1: 126,027,028 E596* probably null Het
Nek10 T A 14: 14,846,594 probably null Het
Notch3 T C 17: 32,144,731 Y1145C probably damaging Het
Nr4a2 A T 2: 57,112,023 H76Q probably benign Het
Nup98 T C 7: 102,134,978 Q1049R probably damaging Het
Olfr1080 A T 2: 86,553,509 F205Y probably damaging Het
Olfr1298 A T 2: 111,645,776 S74T possibly damaging Het
Olfr172 T A 16: 58,760,619 R186* probably null Het
Pepd T C 7: 35,020,984 Y231H probably benign Het
Plagl1 G T 10: 13,127,557 A190S possibly damaging Het
Plat T A 8: 22,778,253 I345N probably damaging Het
Pnmt A G 11: 98,387,460 E120G probably damaging Het
Prkrip1 C A 5: 136,198,943 probably null Het
Pygm G A 19: 6,393,724 A572T probably damaging Het
Rbm4b T C 19: 4,757,372 F39L probably damaging Het
Rpe65 A G 3: 159,622,631 H388R probably benign Het
Scn4a G T 11: 106,320,088 A1701E possibly damaging Het
Sdk2 C A 11: 113,857,758 W616L probably damaging Het
Serpina3m T A 12: 104,391,470 S218T probably benign Het
Siglece C T 7: 43,659,873 R87H probably damaging Het
Sim1 C A 10: 50,909,902 L284M probably damaging Het
Smok3c G T 5: 138,065,582 E444* probably null Het
Snx4 T C 16: 33,294,730 V427A probably benign Het
Srp68 A T 11: 116,260,858 V304E probably damaging Het
Stag1 A T 9: 100,796,755 H243L possibly damaging Het
Stx6 T C 1: 155,173,991 V14A probably damaging Het
Sv2b T A 7: 75,136,421 Y417F probably benign Het
Tas2r103 A G 6: 133,036,198 Y302H probably benign Het
Thop1 T C 10: 81,080,194 S404P probably benign Het
Trp53bp1 G T 2: 121,221,220 C988* probably null Het
Ube3c A G 5: 29,631,271 E630G possibly damaging Het
Usf3 T C 16: 44,217,355 S733P probably benign Het
Vmn1r195 A G 13: 22,279,019 T220A probably benign Het
Vmn1r201 A T 13: 22,474,712 H32L probably benign Het
Wnt2 A G 6: 18,023,240 C137R probably damaging Het
Ythdc2 T C 18: 44,847,804 S489P probably damaging Het
Zfp248 A G 6: 118,429,072 C418R probably damaging Het
Zfp946 T G 17: 22,455,521 F419V probably damaging Het
Zfp994 C T 17: 22,200,757 E404K probably damaging Het
Zfpm1 T C 8: 122,334,608 V304A possibly damaging Het
Other mutations in Ldlrad3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03210:Ldlrad3 APN 2 102069926 splice site probably benign
R4051:Ldlrad3 UTSW 2 101953162 missense probably damaging 1.00
R4052:Ldlrad3 UTSW 2 101953162 missense probably damaging 1.00
R4208:Ldlrad3 UTSW 2 101953162 missense probably damaging 1.00
R4709:Ldlrad3 UTSW 2 102069998 missense probably damaging 1.00
R4887:Ldlrad3 UTSW 2 102113536 missense probably damaging 1.00
R4894:Ldlrad3 UTSW 2 102057948 missense probably damaging 1.00
R5084:Ldlrad3 UTSW 2 102069984 missense probably damaging 1.00
R5224:Ldlrad3 UTSW 2 102113609 missense probably damaging 0.96
R5631:Ldlrad3 UTSW 2 102069956 missense probably damaging 1.00
R6714:Ldlrad3 UTSW 2 101952952 missense probably benign
R6803:Ldlrad3 UTSW 2 102113547 missense possibly damaging 0.89
R7200:Ldlrad3 UTSW 2 102113558 missense probably damaging 0.98
R7200:Ldlrad3 UTSW 2 102113560 missense probably damaging 0.98
R7340:Ldlrad3 UTSW 2 102066839 intron probably null
R7456:Ldlrad3 UTSW 2 101954925 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGACTGTCCAGCCTGATTAG -3'
(R):5'- GCCTGCAAGGACTCACTCATAC -3'

Sequencing Primer
(F):5'- TCCAGCCTGATTAGATGCAG -3'
(R):5'- TCACTCATACATTCAGAGCGAGTGG -3'
Posted On2016-04-15