Incidental Mutation 'R8063:Lrrc52'
ID619833
Institutional Source Beutler Lab
Gene Symbol Lrrc52
Ensembl Gene ENSMUSG00000040485
Gene Nameleucine rich repeat containing 52
Synonyms4930413P14Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.103) question?
Stock #R8063 (G1)
Quality Score225.009
Status Not validated
Chromosome1
Chromosomal Location167445669-167466780 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 167466521 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 65 (I65T)
Ref Sequence ENSEMBL: ENSMUSP00000047213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036643]
Predicted Effect probably damaging
Transcript: ENSMUST00000036643
AA Change: I65T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000047213
Gene: ENSMUSG00000040485
AA Change: I65T

DomainStartEndE-ValueType
LRRNT 25 57 4.21e-3 SMART
LRR 56 73 2.03e2 SMART
LRR 76 99 3.09e1 SMART
LRR 100 123 1.37e1 SMART
LRR 124 148 5.89e1 SMART
LRR 149 172 1.06e2 SMART
Blast:LRRCT 184 237 3e-26 BLAST
transmembrane domain 246 268 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Male mice homozygous for a null allele display reduced fertility with impaired fertilization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace T A 11: 105,971,364 I248N possibly damaging Het
Agk T A 6: 40,329,556 C20S possibly damaging Het
Alpk2 G A 18: 65,350,346 S197L probably benign Het
Armc10 T C 5: 21,648,770 probably null Het
Asxl2 A G 12: 3,500,768 T837A probably benign Het
Atp12a A G 14: 56,366,088 E50G probably damaging Het
Bend5 G T 4: 111,459,834 C398F probably damaging Het
Bicra A G 7: 15,979,044 V1026A probably benign Het
Canx A T 11: 50,308,346 Y165* probably null Het
Casp14 A G 10: 78,714,031 F210L probably damaging Het
Cep70 T A 9: 99,296,122 D458E probably benign Het
Cisd3 T C 11: 97,685,884 V12A probably benign Het
Cnot4 A T 6: 35,068,643 M211K probably damaging Het
Cyp4f18 A G 8: 71,998,231 L197P probably damaging Het
Dnah5 T A 15: 28,230,583 I209N probably benign Het
Dsc2 C T 18: 20,032,274 G881R possibly damaging Het
Edem2 A T 2: 155,702,456 M458K probably benign Het
Eif2ak4 G A 2: 118,410,901 E178K possibly damaging Het
Fars2 G A 13: 36,204,897 W123* probably null Het
Gm884 T C 11: 103,542,261 T3361A unknown Het
Ighv1-20 T C 12: 114,723,785 Y113C probably damaging Het
Il18r1 T A 1: 40,487,038 I248N probably benign Het
Kcnh2 T C 5: 24,321,672 E1042G probably benign Het
Krt42 G C 11: 100,265,039 R294G possibly damaging Het
Lasp1 T C 11: 97,834,131 Y188H probably benign Het
Megf9 A G 4: 70,488,258 C224R probably damaging Het
Ms4a10 T C 19: 10,964,772 T162A probably benign Het
Mstn T A 1: 53,066,448 F316L probably benign Het
Ndufs8 T C 19: 3,911,019 Y86C probably damaging Het
Olfr960 A T 9: 39,623,527 I133F probably damaging Het
Pappa2 C T 1: 158,936,556 D462N possibly damaging Het
Rad51d A G 11: 82,889,771 S62P probably benign Het
Ralgapa2 A G 2: 146,443,855 Y388H probably damaging Het
Rdm1 C A 11: 101,630,868 Q150K probably benign Het
Rictor C T 15: 6,772,154 S441L probably benign Het
Sctr T C 1: 120,063,275 V446A probably benign Het
Sin3b G A 8: 72,725,541 D71N probably damaging Het
Sirt5 A T 13: 43,370,847 T32S probably benign Het
Slc17a1 T C 13: 23,875,541 V85A probably benign Het
Sorcs1 T A 19: 50,143,977 D1181V unknown Het
Tcof1 A G 18: 60,838,762 S158P probably damaging Het
Tet3 T C 6: 83,402,741 D815G probably damaging Het
Tnfsf11 A T 14: 78,278,658 I290N probably damaging Het
Uba6 A T 5: 86,152,685 N225K probably benign Het
Usp30 A G 5: 114,100,463 T11A probably benign Het
Vmn1r5 T G 6: 56,985,598 M86R probably damaging Het
Vmn2r26 T A 6: 124,024,955 H66Q probably benign Het
Vps13d T C 4: 145,114,757 E2647G Het
Wdr5b T A 16: 36,041,788 D92E possibly damaging Het
Zfp960 C A 17: 17,088,361 R446S probably benign Het
Zscan20 C T 4: 128,586,235 S821N probably benign Het
Other mutations in Lrrc52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02126:Lrrc52 APN 1 167446006 missense probably damaging 1.00
IGL02232:Lrrc52 APN 1 167466380 missense probably damaging 0.99
R2030:Lrrc52 UTSW 1 167466459 missense probably benign 0.07
R2252:Lrrc52 UTSW 1 167466368 missense probably damaging 1.00
R4695:Lrrc52 UTSW 1 167466091 critical splice donor site probably null
R6155:Lrrc52 UTSW 1 167466727 start gained probably benign
R6248:Lrrc52 UTSW 1 167466395 missense probably damaging 1.00
R6661:Lrrc52 UTSW 1 167466353 missense probably damaging 1.00
R7135:Lrrc52 UTSW 1 167466450 missense probably damaging 1.00
R7622:Lrrc52 UTSW 1 167466095 missense probably benign 0.16
R7622:Lrrc52 UTSW 1 167466096 missense probably benign 0.08
Z1088:Lrrc52 UTSW 1 167466494 missense possibly damaging 0.52
Predicted Primers PCR Primer
(F):5'- GACGTGGTGTTGGCAAAGAC -3'
(R):5'- GGCCCTAGCTCCAAGTTGTTAC -3'

Sequencing Primer
(F):5'- TGTGAAATGTTCAGCCGCAC -3'
(R):5'- ACTCTTTTCTCTTGGAATGGGG -3'
Posted On2020-01-23