Incidental Mutation 'R6790:Lrrc20'
ID 532558
Institutional Source Beutler Lab
Gene Symbol Lrrc20
Ensembl Gene ENSMUSG00000037151
Gene Name leucine rich repeat containing 20
Synonyms
MMRRC Submission 044903-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6790 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 61311580-61418570 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 61362898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 48 (V48F)
Ref Sequence ENSEMBL: ENSMUSP00000048042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049242]
AlphaFold Q8CI70
Predicted Effect probably damaging
Transcript: ENSMUST00000049242
AA Change: V48F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048042
Gene: ENSMUSG00000037151
AA Change: V48F

DomainStartEndE-ValueType
LRR 73 95 6.41e1 SMART
LRR 96 118 3.36e1 SMART
LRR 119 142 4.58e1 SMART
Meta Mutation Damage Score 0.2011 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap3 T A 4: 155,987,448 (GRCm39) S457T probably damaging Het
Adgrf3 A G 5: 30,401,385 (GRCm39) V881A probably benign Het
Ankrd65 T G 4: 155,877,260 (GRCm39) probably null Het
Ascc3 A G 10: 50,521,808 (GRCm39) E441G probably damaging Het
Atf5 A T 7: 44,462,679 (GRCm39) probably null Het
Cfap97 G T 8: 46,623,113 (GRCm39) V168L possibly damaging Het
Crh T G 3: 19,748,459 (GRCm39) E61A probably damaging Het
Cx3cr1 C T 9: 119,880,833 (GRCm39) V190M probably damaging Het
Cyp3a59 A C 5: 146,033,143 (GRCm39) M172L probably benign Het
Dnm1 T C 2: 32,223,079 (GRCm39) K445R probably damaging Het
Eng C A 2: 32,559,457 (GRCm39) T82N probably damaging Het
Fkbp15 T C 4: 62,222,996 (GRCm39) T968A probably benign Het
Fsip2 A G 2: 82,821,283 (GRCm39) N5672S possibly damaging Het
Gm21149 A C 5: 15,677,103 (GRCm39) D250E unknown Het
Gon4l A G 3: 88,766,305 (GRCm39) E448G probably damaging Het
Hrnr T C 3: 93,236,382 (GRCm39) S2207P unknown Het
Itga4 C A 2: 79,155,958 (GRCm39) H975N probably benign Het
Kdm4c A G 4: 74,309,698 (GRCm39) K954E probably damaging Het
Mga A G 2: 119,754,235 (GRCm39) I915V probably damaging Het
Npc1l1 C T 11: 6,164,260 (GRCm39) probably null Het
Nup50l T C 6: 96,142,304 (GRCm39) T247A probably benign Het
Or3a1b T A 11: 74,012,427 (GRCm39) L104H probably damaging Het
Pate13 G T 9: 35,820,127 (GRCm39) probably benign Het
Per2 C T 1: 91,373,261 (GRCm39) V176I probably benign Het
Pira2 A C 7: 3,845,442 (GRCm39) V314G probably damaging Het
Potefam3e A T 8: 19,779,801 (GRCm39) I14F probably benign Het
Rims1 T C 1: 22,507,278 (GRCm39) D624G probably damaging Het
Secisbp2 A G 13: 51,824,939 (GRCm39) T396A probably benign Het
Slc28a3 T C 13: 58,730,464 (GRCm39) D84G probably benign Het
Slc8a3 T C 12: 81,361,206 (GRCm39) T538A probably benign Het
Slk T A 19: 47,624,007 (GRCm39) C991S probably damaging Het
Stmn1 T C 4: 134,198,125 (GRCm39) L54S probably damaging Het
Tuft1 C G 3: 94,535,537 (GRCm39) E128D possibly damaging Het
Ugt8a T C 3: 125,665,340 (GRCm39) T386A possibly damaging Het
Zdhhc20 A G 14: 58,127,600 (GRCm39) V13A probably benign Het
Other mutations in Lrrc20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01419:Lrrc20 APN 10 61,383,874 (GRCm39) missense probably damaging 0.97
IGL02189:Lrrc20 APN 10 61,362,887 (GRCm39) missense possibly damaging 0.91
R6594:Lrrc20 UTSW 10 61,318,225 (GRCm39) missense possibly damaging 0.93
R9345:Lrrc20 UTSW 10 61,383,890 (GRCm39) missense probably damaging 1.00
Z1176:Lrrc20 UTSW 10 61,362,944 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- ATGCTGATAGGGGTATGGCC -3'
(R):5'- GACTGTATAGGTCGGCTTGAACC -3'

Sequencing Primer
(F):5'- GGTATGGCCCAGGCAGG -3'
(R):5'- TTGAACCAAGGCTAGCTCTG -3'
Posted On 2018-08-29