Incidental Mutation 'R7968:Lrmda'
Institutional Source Beutler Lab
Gene Symbol Lrmda
Ensembl Gene ENSMUSG00000063458
Gene Nameleucine rich melanocyte differentiation associated
SynonymsOca7, 1700112E06Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7968 (G1)
Quality Score225.009
Status Not validated
Chromosomal Location22019712-23056085 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 22598320 bp
Amino Acid Change Threonine to Alanine at position 73 (T73A)
Ref Sequence ENSEMBL: ENSMUSP00000153387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075639] [ENSMUST00000159777] [ENSMUST00000161249] [ENSMUST00000162540] [ENSMUST00000226003]
Predicted Effect probably benign
Transcript: ENSMUST00000075639
SMART Domains Protein: ENSMUSP00000075065
Gene: ENSMUSG00000063458

low complexity region 55 82 N/A INTRINSIC
LRRcap 129 147 6.28e-1 SMART
low complexity region 167 184 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159777
SMART Domains Protein: ENSMUSP00000125751
Gene: ENSMUSG00000063458

SCOP:d1h6ua2 34 109 1e-8 SMART
LRRcap 129 147 6.28e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161249
SMART Domains Protein: ENSMUSP00000124221
Gene: ENSMUSG00000063458

low complexity region 78 95 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162540
SMART Domains Protein: ENSMUSP00000124436
Gene: ENSMUSG00000063458

low complexity region 55 82 N/A INTRINSIC
LRRcap 129 147 6.28e-1 SMART
Predicted Effect unknown
Transcript: ENSMUST00000226003
AA Change: T73A
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a leucine-rich repeat protein. The encoded protein is thought to play a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCA7). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110002H16Rik T C 18: 12,189,314 L608P probably damaging Het
Adarb1 A G 10: 77,295,708 V649A possibly damaging Het
Arglu1 C T 8: 8,667,337 R244H possibly damaging Het
Asic5 A T 3: 82,006,505 Y204F probably benign Het
Asz1 A G 6: 18,104,877 F76S probably damaging Het
Bin1 G A 18: 32,419,843 A174T probably damaging Het
Bnipl A C 3: 95,250,240 S23A probably benign Het
Cd19 T C 7: 126,412,131 T294A probably benign Het
Cdon G A 9: 35,456,522 V238I probably benign Het
Chd3 A T 11: 69,356,625 D957E probably benign Het
Crhbp T C 13: 95,432,007 Q307R probably damaging Het
Cst3 A G 2: 148,872,821 M112T probably benign Het
Dgkb A G 12: 38,139,426 E276G probably damaging Het
Exoc4 T A 6: 33,758,066 N539K probably benign Het
Gm3099 A G 14: 3,999,461 E85G probably benign Het
Gpatch2 A G 1: 187,225,501 probably null Het
Hs3st5 T A 10: 36,828,780 Y26* probably null Het
Hspg2 A T 4: 137,516,837 D802V probably damaging Het
Ifih1 A G 2: 62,601,469 V846A possibly damaging Het
Lama4 T A 10: 39,088,844 S1402T probably benign Het
Lrrc1 A T 9: 77,442,189 V365E probably damaging Het
Lrrc37a T A 11: 103,503,042 Q519L probably benign Het
Mlc1 G T 15: 88,977,904 D36E probably benign Het
Mrc2 A T 11: 105,332,266 D445V probably damaging Het
Muc16 A G 9: 18,639,464 S5178P probably benign Het
Nbea A G 3: 55,665,689 I2491T probably damaging Het
Ncoa1 A G 12: 4,339,044 I77T probably damaging Het
Npepps G T 11: 97,218,648 H701N probably damaging Het
Olfr733 T G 14: 50,298,584 T242P probably damaging Het
Olfr837 A T 9: 19,137,535 I181F possibly damaging Het
Pclo GTCTAT GTCTATTCTAT 5: 14,714,190 probably null Het
Pclo AT ATTCTCT 5: 14,714,194 probably null Het
Pi4kb T C 3: 94,999,076 Y645H probably damaging Het
Pik3r5 C T 11: 68,492,702 A449V possibly damaging Het
Plat A G 8: 22,771,720 T45A probably benign Het
Platr25 T C 13: 62,700,862 K62R possibly damaging Het
Ppp5c A G 7: 17,006,186 V410A possibly damaging Het
Prdm2 C T 4: 143,134,570 A717T probably benign Het
Ptpn12 A C 5: 20,998,525 S418R possibly damaging Het
Rint1 A G 5: 23,805,644 S255G probably benign Het
Sltm C G 9: 70,586,673 P802R possibly damaging Het
Stab2 T C 10: 86,878,912 H1581R probably benign Het
Stau2 T C 1: 16,460,353 Y114C unknown Het
Tenm2 C A 11: 36,139,571 probably null Het
Ticam1 T C 17: 56,271,067 T343A probably benign Het
Tmem131l T C 3: 83,910,417 K1259E possibly damaging Het
Ugt3a1 A G 15: 9,310,583 N317S possibly damaging Het
Vmn2r103 T A 17: 19,793,123 F169I probably benign Het
Vps33a T C 5: 123,535,249 K425E possibly damaging Het
Vsnl1 T C 12: 11,435,585 probably null Het
Vwa8 T C 14: 79,020,649 M746T probably benign Het
Zc3hav1 A G 6: 38,336,663 I149T possibly damaging Het
Zfp160 C G 17: 21,032,729 probably null Het
Zfp708 A T 13: 67,074,129 D62E probably benign Het
Other mutations in Lrmda
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01140:Lrmda APN 14 22596517 missense possibly damaging 0.49
IGL01982:Lrmda APN 14 22584482 missense probably damaging 1.00
IGL02792:Lrmda APN 14 22019910 critical splice donor site probably null
IGL02826:Lrmda APN 14 22828737 missense probably damaging 1.00
Bowie UTSW 14 22027235 nonsense probably null
Stardust UTSW 14 22027306 missense probably damaging 1.00
R1921:Lrmda UTSW 14 22577870 missense probably damaging 1.00
R3720:Lrmda UTSW 14 22027331 splice site probably benign
R3722:Lrmda UTSW 14 22027331 splice site probably benign
R4242:Lrmda UTSW 14 22027235 nonsense probably null
R5393:Lrmda UTSW 14 22027306 missense probably damaging 1.00
R6562:Lrmda UTSW 14 22598186 intron probably benign
R6749:Lrmda UTSW 14 22027276 missense probably benign 0.02
R7155:Lrmda UTSW 14 22584540 missense probably damaging 1.00
R7560:Lrmda UTSW 14 22828702 missense probably benign 0.15
R7580:Lrmda UTSW 14 22019857 start gained probably benign
R7885:Lrmda UTSW 14 22598320 missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On2019-12-27