Incidental Mutation 'R7200:Ldlrad3'
ID 560219
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 045278-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R7200 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 101780548-102016730 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 101943903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 56 (F56L)
Ref Sequence ENSEMBL: ENSMUSP00000054134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058790] [ENSMUST00000111222]
AlphaFold A2AR95
Predicted Effect probably damaging
Transcript: ENSMUST00000058790
AA Change: F56L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000054134
Gene: ENSMUSG00000048058
AA Change: F56L

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 probably benign
Transcript: ENSMUST00000111222
SMART Domains Protein: ENSMUSP00000106853
Gene: ENSMUSG00000048058

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
Meta Mutation Damage Score 0.0749 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700086D15Rik A G 11: 65,043,836 (GRCm39) M75T unknown Het
2700049A03Rik T G 12: 71,187,680 (GRCm39) N105K probably damaging Het
Acvr1c A T 2: 58,205,867 (GRCm39) V31E probably damaging Het
Adra1d T A 2: 131,403,170 (GRCm39) T307S probably benign Het
Akr1c14 T C 13: 4,131,051 (GRCm39) Y248H probably benign Het
Ankub1 T C 3: 57,580,406 (GRCm39) T84A probably benign Het
Asb3 C A 11: 30,948,348 (GRCm39) S8* probably null Het
AU041133 G A 10: 81,986,935 (GRCm39) G196D possibly damaging Het
B4galt7 T C 13: 55,756,155 (GRCm39) C214R probably damaging Het
Chd3 A G 11: 69,254,921 (GRCm39) S140P possibly damaging Het
Ciz1 T C 2: 32,254,299 (GRCm39) L80P probably damaging Het
Col6a4 G A 9: 105,949,448 (GRCm39) P729L possibly damaging Het
Cr2 A G 1: 194,845,557 (GRCm39) C133R probably damaging Het
Dmgdh T C 13: 93,828,393 (GRCm39) L178P probably damaging Het
Dock5 C A 14: 68,009,151 (GRCm39) E1448* probably null Het
Elavl1 A G 8: 4,361,767 (GRCm39) S2P probably benign Het
Flywch1 T C 17: 23,980,033 (GRCm39) H247R possibly damaging Het
Gabpb1 A T 2: 126,481,222 (GRCm39) I309N possibly damaging Het
Glrx3 T C 7: 137,066,165 (GRCm39) F298L possibly damaging Het
Gpc6 G A 14: 118,202,268 (GRCm39) V493I probably benign Het
H2-T13 A T 17: 36,391,938 (GRCm39) I45N possibly damaging Het
Hadha C T 5: 30,350,315 (GRCm39) E78K probably benign Het
Hjurp TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT TCT 1: 88,194,000 (GRCm39) probably benign Het
Mapk4 A T 18: 74,063,990 (GRCm39) S411T possibly damaging Het
Mcm9 A G 10: 53,492,019 (GRCm39) M382T Het
Muc21 TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT TCCTGAGGCAGTGCTGGAT 17: 35,933,525 (GRCm39) probably benign Het
Or2t6 A T 14: 14,175,477 (GRCm38) C202S probably damaging Het
Or5b104 T C 19: 13,072,596 (GRCm39) T139A probably benign Het
Pacs1 A C 19: 5,206,441 (GRCm39) I248S possibly damaging Het
Pi16 C A 17: 29,538,208 (GRCm39) P7Q possibly damaging Het
Plekhg1 T C 10: 3,906,810 (GRCm39) S631P Het
Rars2 A T 4: 34,645,747 (GRCm39) K221N probably benign Het
Retsat T C 6: 72,583,002 (GRCm39) S388P possibly damaging Het
Rft1 G A 14: 30,404,814 (GRCm39) probably null Het
Rgsl1 A G 1: 153,660,945 (GRCm39) V345A probably benign Het
Rnf38 A T 4: 44,137,620 (GRCm39) S320R probably benign Het
Sel1l3 T A 5: 53,301,451 (GRCm39) Y722F probably benign Het
Slc13a4 T C 6: 35,264,285 (GRCm39) E194G possibly damaging Het
Spata17 G A 1: 186,844,700 (GRCm39) R300C probably benign Het
Tacc1 G A 8: 25,731,656 (GRCm39) probably benign Het
Tc2n T G 12: 101,655,314 (GRCm39) I214L probably damaging Het
Tet2 T C 3: 133,192,953 (GRCm39) S494G probably benign Het
Tmco5b A T 2: 113,121,722 (GRCm39) I179L probably damaging Het
Triobp AGGGACAATCCCAGGGCCTCCTCTCCCAACAGAACTACTCAGCGGGACAA AGGGACAA 15: 78,851,042 (GRCm39) probably benign Het
Trpv1 A G 11: 73,130,412 (GRCm39) T173A probably damaging Het
Vmn2r56 C T 7: 12,444,259 (GRCm39) G458R probably damaging Het
Vmn2r81 T G 10: 79,106,570 (GRCm39) probably null Het
Wfdc15b T A 2: 164,057,037 (GRCm39) E80D probably benign Het
Wrn A T 8: 33,812,376 (GRCm39) D423E probably benign Het
Zfp775 T A 6: 48,597,415 (GRCm39) C430S possibly damaging Het
Other mutations in Ldlrad3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGGGAGTCACTTCTACTCATCC -3'
(R):5'- GGACTGTGACCACTATGCTTG -3'

Sequencing Primer
(F):5'- GAGTCACTTCTACTCATCCAAGCATG -3'
(R):5'- GACTGTGACCACTATGCTTGCTTTC -3'
Posted On 2019-06-26