Incidental Mutation 'R7777:Ldlrad4'
ID598973
Institutional Source Beutler Lab
Gene Symbol Ldlrad4
Ensembl Gene ENSMUSG00000024544
Gene Namelow density lipoprotein receptor class A domain containing 4
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7777 (G1)
Quality Score225.009
Status Validated
Chromosome18
Chromosomal Location67933257-68255549 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 68235669 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 66 (A66S)
Ref Sequence ENSEMBL: ENSMUSP00000068471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063775]
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

DomainStartEndE-ValueType
LDLa 14 49 3.69e-8 SMART
transmembrane domain 65 87 N/A INTRINSIC
Meta Mutation Damage Score 0.0953 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik C T 4: 42,970,171 Q53* probably null Het
1700022I11Rik T C 4: 42,971,095 S143P probably benign Het
Adam6b C T 12: 113,490,138 P192S possibly damaging Het
Arhgef10 A G 8: 14,945,373 T353A probably damaging Het
Cabyr A G 18: 12,744,771 D55G probably damaging Het
Dcaf4 T C 12: 83,537,959 V322A probably damaging Het
Ephb2 T A 4: 136,771,636 E44V possibly damaging Het
Fam3c T C 6: 22,328,574 I105V probably benign Het
Fras1 A G 5: 96,752,904 D2994G probably damaging Het
Fryl C T 5: 73,071,298 D1697N probably damaging Het
Gapdh A T 6: 125,162,948 Y164* probably null Het
Gm4353 T G 7: 116,083,763 Q194H possibly damaging Het
Ilvbl T A 10: 78,577,251 probably null Het
Ism2 T A 12: 87,286,884 probably null Het
Jak2 C T 19: 29,276,868 T196I probably benign Het
Lcor T G 19: 41,558,795 Y273D probably benign Het
Lysmd4 T A 7: 67,223,698 M27K possibly damaging Het
Muc3 G A 5: 137,146,716 silent Het
Olfr1023 A G 2: 85,887,607 E269G possibly damaging Het
Olfr539 T A 7: 140,667,941 I211N probably benign Het
Olfr747 A T 14: 50,680,804 Y277N probably damaging Het
Oscp1 T C 4: 126,064,981 probably null Het
Pira2 A T 7: 3,841,697 F445Y probably benign Het
Pkd2l2 C A 18: 34,416,860 P186Q probably damaging Het
Plcb1 G A 2: 135,220,757 G96R possibly damaging Het
Plcd3 G C 11: 103,074,655 R535G probably benign Het
Plcg1 A G 2: 160,754,603 M681V possibly damaging Het
Polr1b C A 2: 129,125,544 F952L probably damaging Het
Polrmt A T 10: 79,739,188 D836E probably benign Het
Pramef8 T C 4: 143,417,761 Y226H possibly damaging Het
Prkag1 A T 15: 98,814,597 I149N probably damaging Het
Prkci A T 3: 31,050,213 Q575L possibly damaging Het
Prss40 C T 1: 34,552,765 W276* probably null Het
Ptprn T C 1: 75,252,302 D823G possibly damaging Het
Radil A C 5: 142,543,548 F131C probably damaging Het
Rif1 A G 2: 52,116,356 I550V probably benign Het
Rmnd1 T C 10: 4,411,713 E320G probably damaging Het
Sec31b T A 19: 44,523,773 K561* probably null Het
Tbx5 A C 5: 119,883,167 T413P probably benign Het
Tmprss7 A G 16: 45,660,600 probably null Het
Tnfaip8l2 T C 3: 95,139,996 *185W probably null Het
Tpst2 A G 5: 112,309,694 E296G possibly damaging Het
Ubn2 T A 6: 38,490,753 S801T probably damaging Het
Usp34 A G 11: 23,382,638 S1141G Het
Uts2r A G 11: 121,161,453 N381S probably benign Het
Vmn2r44 G T 7: 8,378,315 T193K possibly damaging Het
Wdr18 T A 10: 79,966,050 M223K probably benign Het
Wdr64 T C 1: 175,789,998 C715R possibly damaging Het
Zfp672 A G 11: 58,317,255 F80S possibly damaging Het
Other mutations in Ldlrad4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02939:Ldlrad4 APN 18 68254514 missense probably damaging 1.00
IGL03140:Ldlrad4 APN 18 68254514 missense probably damaging 1.00
R1566:Ldlrad4 UTSW 18 68250598 missense probably benign
R1750:Ldlrad4 UTSW 18 68106687 missense probably benign 0.11
R6347:Ldlrad4 UTSW 18 68235780 missense probably benign 0.00
R7774:Ldlrad4 UTSW 18 68235792 nonsense probably null
R7775:Ldlrad4 UTSW 18 68235669 missense possibly damaging 0.50
R7775:Ldlrad4 UTSW 18 68235756 missense probably damaging 1.00
R7778:Ldlrad4 UTSW 18 68235669 missense possibly damaging 0.50
R7812:Ldlrad4 UTSW 18 68106671 missense probably benign 0.07
R7827:Ldlrad4 UTSW 18 68254424 missense probably damaging 0.97
R7977:Ldlrad4 UTSW 18 68235669 missense possibly damaging 0.50
R7983:Ldlrad4 UTSW 18 68235669 missense possibly damaging 0.50
R7984:Ldlrad4 UTSW 18 68235669 missense possibly damaging 0.50
R7986:Ldlrad4 UTSW 18 68235669 missense possibly damaging 0.50
R7987:Ldlrad4 UTSW 18 68235669 missense possibly damaging 0.50
R8017:Ldlrad4 UTSW 18 68235669 missense possibly damaging 0.50
R8018:Ldlrad4 UTSW 18 68235669 missense possibly damaging 0.50
R8019:Ldlrad4 UTSW 18 68235669 missense possibly damaging 0.50
R8020:Ldlrad4 UTSW 18 68235669 missense possibly damaging 0.50
R8151:Ldlrad4 UTSW 18 68250572 missense possibly damaging 0.54
R8154:Ldlrad4 UTSW 18 68254222 nonsense probably null
R8157:Ldlrad4 UTSW 18 68254222 nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCATGCAGCCGTTTTATGAC -3'
(R):5'- AAGTGGGCTATCCTACCCTCTAG -3'

Sequencing Primer
(F):5'- GCAGCCGTTTTATGACTGCATTTTC -3'
(R):5'- TGCCACACCCTGTCTGG -3'
Posted On2019-11-26