Incidental Mutation 'R7387:Ldlrad2'
ID 573161
Institutional Source Beutler Lab
Gene Symbol Ldlrad2
Ensembl Gene ENSMUSG00000094035
Gene Name low density lipoprotein receptor class A domain containing 2
Synonyms
MMRRC Submission 045469-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R7387 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 137298187-137309415 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 137301828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 18 (C18Y)
Ref Sequence ENSEMBL: ENSMUSP00000136854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030547] [ENSMUST00000171332] [ENSMUST00000178923]
AlphaFold A0A5F8MPH1
Predicted Effect probably benign
Transcript: ENSMUST00000030547
SMART Domains Protein: ENSMUSP00000030547
Gene: ENSMUSG00000028763

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 53 78 N/A INTRINSIC
SEA 80 194 4.94e-18 SMART
LDLa 198 236 4.51e-12 SMART
low complexity region 253 267 N/A INTRINSIC
LDLa 284 321 1.62e-13 SMART
LDLa 324 361 2.59e-12 SMART
LDLa 367 405 3.86e-11 SMART
IGc2 419 486 4.06e-13 SMART
LamB 590 717 7.45e-54 SMART
EGF_Lam 764 811 6.05e-14 SMART
EGF_Lam 814 869 3.82e-2 SMART
EGF_like 871 921 6.74e-1 SMART
low complexity region 934 939 N/A INTRINSIC
LamB 985 1112 2.87e-55 SMART
Pfam:Laminin_EGF 1113 1156 7.5e-5 PFAM
EGF_Lam 1159 1206 1.1e-11 SMART
EGF_Lam 1209 1263 2.46e-5 SMART
EGF_Lam 1275 1322 4.96e-10 SMART
LamB 1391 1516 5.3e-59 SMART
EGF_like 1516 1560 3.36e0 SMART
EGF_Lam 1563 1610 2.66e-10 SMART
EGF_Lam 1613 1668 3.73e-5 SMART
IGc2 1688 1752 1.76e-8 SMART
IGc2 1783 1846 5.97e-11 SMART
IGc2 1877 1939 8.57e-12 SMART
IGc2 1967 2031 1.82e-15 SMART
IGc2 2056 2117 4.81e-15 SMART
IGc2 2157 2216 1.37e-10 SMART
IGc2 2251 2312 5.88e-10 SMART
low complexity region 2333 2344 N/A INTRINSIC
IGc2 2347 2408 1.97e-11 SMART
IGc2 2441 2502 1.59e-15 SMART
low complexity region 2517 2528 N/A INTRINSIC
IGc2 2538 2599 3.08e-13 SMART
IGc2 2634 2695 9.25e-17 SMART
low complexity region 2704 2728 N/A INTRINSIC
IGc2 2731 2792 1.84e-11 SMART
IGc2 2828 2889 2.11e-11 SMART
IGc2 2926 2987 3.25e-12 SMART
IG 3017 3098 3.62e-10 SMART
IGc2 3114 3180 9.05e-11 SMART
IGc2 3212 3273 2.44e-16 SMART
IGc2 3299 3360 2.26e-11 SMART
IGc2 3400 3461 6.81e-6 SMART
IGc2 3489 3550 1.59e-15 SMART
IGc2 3575 3636 2.54e-14 SMART
LamG 3672 3813 3.41e-39 SMART
EGF 3832 3866 6.91e-9 SMART
EGF 3872 3907 4.46e-3 SMART
LamG 3934 4070 4.78e-43 SMART
EGF 4092 4126 1.17e-6 SMART
EGF 4131 4161 1.87e-5 SMART
LamG 4211 4348 1.33e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171332
SMART Domains Protein: ENSMUSP00000131316
Gene: ENSMUSG00000028763

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 53 78 N/A INTRINSIC
SEA 80 194 4.94e-18 SMART
LDLa 198 236 4.51e-12 SMART
low complexity region 253 267 N/A INTRINSIC
LDLa 284 321 1.62e-13 SMART
LDLa 324 361 2.59e-12 SMART
LDLa 367 405 3.86e-11 SMART
IGc2 419 486 4.06e-13 SMART
LamB 590 717 7.45e-54 SMART
EGF_Lam 764 811 6.05e-14 SMART
EGF_Lam 814 869 3.82e-2 SMART
EGF_like 871 921 6.74e-1 SMART
low complexity region 934 939 N/A INTRINSIC
LamB 985 1112 2.87e-55 SMART
Pfam:Laminin_EGF 1114 1156 7.9e-5 PFAM
EGF_Lam 1159 1206 1.1e-11 SMART
EGF_Lam 1209 1263 2.46e-5 SMART
EGF_Lam 1275 1322 4.96e-10 SMART
LamB 1391 1516 5.3e-59 SMART
EGF_like 1516 1560 3.36e0 SMART
EGF_Lam 1563 1610 2.66e-10 SMART
EGF_Lam 1613 1668 3.73e-5 SMART
IGc2 1688 1752 1.76e-8 SMART
IGc2 1783 1846 5.97e-11 SMART
IGc2 1877 1939 8.57e-12 SMART
IGc2 1967 2031 1.82e-15 SMART
IGc2 2062 2123 4.81e-15 SMART
IGc2 2163 2222 1.37e-10 SMART
IGc2 2257 2318 5.88e-10 SMART
low complexity region 2339 2350 N/A INTRINSIC
IGc2 2353 2414 1.97e-11 SMART
IGc2 2447 2508 1.59e-15 SMART
low complexity region 2523 2534 N/A INTRINSIC
IGc2 2544 2605 3.08e-13 SMART
IGc2 2640 2701 9.25e-17 SMART
low complexity region 2710 2734 N/A INTRINSIC
IGc2 2737 2798 1.84e-11 SMART
IGc2 2836 2897 2.11e-11 SMART
IGc2 2934 2995 3.25e-12 SMART
IG 3025 3106 3.62e-10 SMART
IGc2 3122 3188 9.05e-11 SMART
IGc2 3220 3281 2.44e-16 SMART
IGc2 3307 3368 2.26e-11 SMART
IGc2 3408 3469 6.81e-6 SMART
IGc2 3497 3558 1.59e-15 SMART
IGc2 3583 3644 2.54e-14 SMART
LamG 3680 3821 3.41e-39 SMART
EGF 3840 3874 6.91e-9 SMART
EGF 3880 3915 4.46e-3 SMART
LamG 3942 4078 4.78e-43 SMART
EGF 4100 4134 1.17e-6 SMART
EGF 4139 4169 1.87e-5 SMART
LamG 4219 4356 1.33e-41 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000178923
AA Change: C18Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136854
Gene: ENSMUSG00000094035
AA Change: C18Y

DomainStartEndE-ValueType
transmembrane domain 76 98 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522H14Rik A G 4: 109,362,774 (GRCm39) Y182H probably damaging Het
Abca6 A G 11: 110,093,246 (GRCm39) V1009A probably benign Het
Abcg2 A T 6: 58,666,609 (GRCm39) I573F possibly damaging Het
Adck1 A G 12: 88,427,822 (GRCm39) T480A probably benign Het
Adcy5 T C 16: 35,092,460 (GRCm39) I607T probably damaging Het
Add2 A G 6: 86,062,997 (GRCm39) K52E probably damaging Het
Arid4a T A 12: 71,134,270 (GRCm39) S1191T probably damaging Het
Atg2a G T 19: 6,305,198 (GRCm39) C1207F possibly damaging Het
Atg2b T C 12: 105,589,034 (GRCm39) D1875G probably damaging Het
B3gntl1 A G 11: 121,520,741 (GRCm39) L224P possibly damaging Het
BC035947 A G 1: 78,475,098 (GRCm39) V478A possibly damaging Het
Cachd1 T C 4: 100,634,375 (GRCm39) V17A unknown Het
Cad T C 5: 31,219,284 (GRCm39) Y669H probably damaging Het
Ccdc110 A T 8: 46,395,233 (GRCm39) M375L probably benign Het
Cdc6 C T 11: 98,799,042 (GRCm39) probably benign Het
Cdhr4 T A 9: 107,874,111 (GRCm39) Y72* probably null Het
Cenpe T G 3: 134,952,798 (GRCm39) M1496R probably benign Het
Clec4a1 T G 6: 122,899,016 (GRCm39) C28W possibly damaging Het
Cma2 A G 14: 56,210,505 (GRCm39) N120S probably benign Het
Cped1 A T 6: 22,059,933 (GRCm39) I200L probably benign Het
Cpsf1 A T 15: 76,486,766 (GRCm39) S257T possibly damaging Het
Dnah6 G A 6: 73,189,595 (GRCm39) Q18* probably null Het
Dpp10 T C 1: 123,268,869 (GRCm39) E720G probably benign Het
Dus2 G A 8: 106,772,619 (GRCm39) R243Q probably damaging Het
Dync2h1 T C 9: 7,157,932 (GRCm39) N769S possibly damaging Het
Ece1 T A 4: 137,666,095 (GRCm39) I313N possibly damaging Het
Ern1 A T 11: 106,312,778 (GRCm39) V201E probably damaging Het
Exoc3l A G 8: 106,021,605 (GRCm39) L141P probably damaging Het
Fam168b G A 1: 34,858,789 (GRCm39) T131M probably damaging Het
Fez1 T C 9: 36,779,108 (GRCm39) F262L probably damaging Het
H2-DMa T C 17: 34,357,101 (GRCm39) Y200H probably damaging Het
H2-Eb1 T A 17: 34,533,207 (GRCm39) V143D probably damaging Het
Ighv1-39 G A 12: 114,878,488 (GRCm39) P28S probably benign Het
Inka1 C T 9: 107,861,626 (GRCm39) R230H probably damaging Het
Iqgap1 C T 7: 80,370,738 (GRCm39) V1544I probably benign Het
Itga10 A T 3: 96,560,094 (GRCm39) Q536L probably benign Het
Itih2 C T 2: 10,135,319 (GRCm39) E24K possibly damaging Het
Itsn2 A T 12: 4,689,781 (GRCm39) N618I probably damaging Het
Kcnd2 T A 6: 21,216,777 (GRCm39) S160R probably benign Het
Kif11 T A 19: 37,398,204 (GRCm39) F677I probably damaging Het
Lrp4 T C 2: 91,306,959 (GRCm39) V360A probably benign Het
Lrrtm2 T C 18: 35,346,025 (GRCm39) T426A probably damaging Het
Mcidas T C 13: 113,130,622 (GRCm39) F40L probably benign Het
Med27 T A 2: 29,303,419 (GRCm39) L123Q possibly damaging Het
Mettl2 T C 11: 105,023,364 (GRCm39) V249A probably benign Het
Mllt6 C A 11: 97,565,426 (GRCm39) A592D probably benign Het
Mrps5 C T 2: 127,442,804 (GRCm39) T291I probably damaging Het
Muc16 T A 9: 18,553,016 (GRCm39) T4426S probably benign Het
Myh1 A T 11: 67,099,715 (GRCm39) M542L probably benign Het
Nlrp12 G T 7: 3,289,831 (GRCm39) A227D probably damaging Het
Nlrp14 T C 7: 106,782,314 (GRCm39) Y504H probably damaging Het
Nr1i2 T C 16: 38,086,442 (GRCm39) S8G probably benign Het
Ntrk2 A G 13: 59,133,793 (GRCm39) K524R probably damaging Het
Nup210 C T 6: 90,998,378 (GRCm39) probably null Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or4c100 T A 2: 88,356,744 (GRCm39) Y272* probably null Het
Or52e4 T A 7: 104,706,297 (GRCm39) Y281* probably null Het
Or5h27 A T 16: 59,006,699 (GRCm39) I49N probably damaging Het
Patl1 A G 19: 11,911,094 (GRCm39) I525M probably benign Het
Pcnx3 A G 19: 5,723,364 (GRCm39) L1277P probably benign Het
Pelp1 G A 11: 70,287,425 (GRCm39) T461I probably damaging Het
Phf20 T C 2: 156,136,160 (GRCm39) C660R probably damaging Het
Pkd1l1 T A 11: 8,851,203 (GRCm39) Y1193F Het
Pknox2 G T 9: 36,868,364 (GRCm39) probably benign Het
Pml T C 9: 58,137,177 (GRCm39) T541A probably benign Het
Prss35 C T 9: 86,637,974 (GRCm39) T248I probably damaging Het
Rccd1 T A 7: 79,970,350 (GRCm39) N89I probably benign Het
Rcor3 T C 1: 191,821,824 (GRCm39) probably benign Het
Rreb1 A G 13: 38,131,040 (GRCm39) E16G unknown Het
Scgb2b12 T A 7: 32,026,060 (GRCm39) H44L probably benign Het
Sec23ip C T 7: 128,346,727 (GRCm39) probably benign Het
Sgsm1 A C 5: 113,411,566 (GRCm39) F720C probably damaging Het
Slc25a51 A T 4: 45,399,841 (GRCm39) F116L possibly damaging Het
Spats2l T C 1: 57,941,293 (GRCm39) V253A probably damaging Het
Spopl A T 2: 23,427,521 (GRCm39) F204I probably benign Het
Sqle G A 15: 59,202,603 (GRCm39) R519Q probably benign Het
Stil T G 4: 114,881,233 (GRCm39) H592Q probably benign Het
Strip1 T A 3: 107,533,046 (GRCm39) S201C probably damaging Het
Tcp11l1 C A 2: 104,530,275 (GRCm39) A70S possibly damaging Het
Tmem163 T C 1: 127,447,180 (GRCm39) probably null Het
Tmem184c A T 8: 78,324,559 (GRCm39) Y310* probably null Het
Tmem30c T C 16: 57,090,386 (GRCm39) N274D probably benign Het
Trim30c T A 7: 104,039,397 (GRCm39) I133F probably damaging Het
Vars1 C T 17: 35,223,768 (GRCm39) Q228* probably null Het
Zdbf2 G A 1: 63,343,198 (GRCm39) V526I possibly damaging Het
Zfp819 T G 7: 43,262,065 (GRCm39) probably null Het
Other mutations in Ldlrad2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03285:Ldlrad2 APN 4 137,300,955 (GRCm39) missense probably benign
R0544:Ldlrad2 UTSW 4 137,299,579 (GRCm39) missense possibly damaging 0.53
R1474:Ldlrad2 UTSW 4 137,299,525 (GRCm39) missense probably benign 0.25
R1838:Ldlrad2 UTSW 4 137,299,481 (GRCm39) missense probably benign 0.23
R1840:Ldlrad2 UTSW 4 137,299,495 (GRCm39) missense possibly damaging 0.88
Z1177:Ldlrad2 UTSW 4 137,301,844 (GRCm39) missense probably benign 0.15
Predicted Primers PCR Primer
(F):5'- ACTGGAAGTGATGGCAGGTC -3'
(R):5'- TGTGGGATCTAGTCTAGGATCC -3'

Sequencing Primer
(F):5'- GTCCTGGGAAGCATCTCTCC -3'
(R):5'- GGGATCTAGTCTAGGATCCTTACTC -3'
Posted On 2019-09-13