Incidental Mutation 'R7885:Lrmda'
ID 609030
Institutional Source Beutler Lab
Gene Symbol Lrmda
Ensembl Gene ENSMUSG00000063458
Gene Name leucine rich melanocyte differentiation associated
Synonyms Oca7, 1700112E06Rik
MMRRC Submission 045937-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7885 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 22069780-23106153 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22648388 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9D9B4
Predicted Effect probably benign
Transcript: ENSMUST00000075639
SMART Domains Protein: ENSMUSP00000075065
Gene: ENSMUSG00000063458

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

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

DomainStartEndE-ValueType
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: 99.7%
  • 20x: 99.1%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 A G 10: 77,131,542 (GRCm39) V649A possibly damaging Het
Arglu1 C T 8: 8,717,337 (GRCm39) R244H possibly damaging Het
Asic5 A T 3: 81,913,812 (GRCm39) Y204F probably benign Het
Asz1 A G 6: 18,104,876 (GRCm39) F76S probably damaging Het
Bin1 G A 18: 32,552,896 (GRCm39) A174T probably damaging Het
Bnipl A C 3: 95,157,551 (GRCm39) S23A probably benign Het
Cd19 T C 7: 126,011,303 (GRCm39) T294A probably benign Het
Cdon G A 9: 35,367,818 (GRCm39) V238I probably benign Het
Chd3 A T 11: 69,247,451 (GRCm39) D957E probably benign Het
Crhbp T C 13: 95,568,515 (GRCm39) Q307R probably damaging Het
Cst3 A G 2: 148,714,741 (GRCm39) M112T probably benign Het
Dgkb A G 12: 38,189,425 (GRCm39) E276G probably damaging Het
Exoc4 T A 6: 33,735,001 (GRCm39) N539K probably benign Het
Gm3099 A G 14: 15,345,429 (GRCm39) E85G probably benign Het
Gpatch2 A G 1: 186,957,698 (GRCm39) probably null Het
Hs3st5 T A 10: 36,704,776 (GRCm39) Y26* probably null Het
Hspg2 A T 4: 137,244,148 (GRCm39) D802V probably damaging Het
Ifih1 A G 2: 62,431,813 (GRCm39) V846A possibly damaging Het
Lama4 T A 10: 38,964,840 (GRCm39) S1402T probably benign Het
Lrrc1 A T 9: 77,349,471 (GRCm39) V365E probably damaging Het
Lrrc37a T A 11: 103,393,868 (GRCm39) Q519L probably benign Het
Mlc1 G T 15: 88,862,107 (GRCm39) D36E probably benign Het
Mrc2 A T 11: 105,223,092 (GRCm39) D445V probably damaging Het
Muc16 A G 9: 18,550,760 (GRCm39) S5178P probably benign Het
Nbea A G 3: 55,573,110 (GRCm39) I2491T probably damaging Het
Ncoa1 A G 12: 4,389,044 (GRCm39) I77T probably damaging Het
Npepps G T 11: 97,109,474 (GRCm39) H701N probably damaging Het
Or4n4b T G 14: 50,536,041 (GRCm39) T242P probably damaging Het
Or7g22 A T 9: 19,048,831 (GRCm39) I181F possibly damaging Het
Pclo T TTCTAG 5: 14,764,209 (GRCm39) probably null Het
Pclo GTCTAT GTCTATTCTAT 5: 14,764,204 (GRCm39) probably null Het
Pclo TCTAT TCTATACTAT 5: 14,764,205 (GRCm39) probably null Het
Pi4kb T C 3: 94,906,387 (GRCm39) Y645H probably damaging Het
Pik3r5 C T 11: 68,383,528 (GRCm39) A449V possibly damaging Het
Plat A G 8: 23,261,736 (GRCm39) T45A probably benign Het
Platr25 T C 13: 62,848,676 (GRCm39) K62R possibly damaging Het
Ppp5c A G 7: 16,740,111 (GRCm39) V410A possibly damaging Het
Prdm2 C T 4: 142,861,140 (GRCm39) A717T probably benign Het
Pstpip2 C A 18: 77,882,422 (GRCm39) T2K probably benign Het
Ptpn12 A C 5: 21,203,523 (GRCm39) S418R possibly damaging Het
Rint1 A G 5: 24,010,642 (GRCm39) S255G probably benign Het
Rmc1 T C 18: 12,322,371 (GRCm39) L608P probably damaging Het
Sltm C G 9: 70,493,955 (GRCm39) P802R possibly damaging Het
Stab2 T C 10: 86,714,776 (GRCm39) H1581R probably benign Het
Stau2 T C 1: 16,530,577 (GRCm39) Y114C unknown Het
Ticam1 T C 17: 56,578,067 (GRCm39) T343A probably benign Het
Tmem131l T C 3: 83,817,724 (GRCm39) K1259E possibly damaging Het
Vmn2r103 T A 17: 20,013,385 (GRCm39) F169I probably benign Het
Vps33a T C 5: 123,673,312 (GRCm39) K425E possibly damaging Het
Vwa8 T C 14: 79,258,089 (GRCm39) M746T probably benign Het
Zc3hav1 A G 6: 38,313,598 (GRCm39) I149T possibly damaging Het
Zfp708 A T 13: 67,222,193 (GRCm39) D62E probably benign Het
Other mutations in Lrmda
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01140:Lrmda APN 14 22,646,585 (GRCm39) missense possibly damaging 0.49
IGL01982:Lrmda APN 14 22,634,550 (GRCm39) missense probably damaging 1.00
IGL02792:Lrmda APN 14 22,069,978 (GRCm39) critical splice donor site probably null
IGL02826:Lrmda APN 14 22,878,805 (GRCm39) missense probably damaging 1.00
Bowie UTSW 14 22,077,303 (GRCm39) nonsense probably null
Stardust UTSW 14 22,077,374 (GRCm39) missense probably damaging 1.00
R1921:Lrmda UTSW 14 22,627,938 (GRCm39) missense probably damaging 1.00
R3720:Lrmda UTSW 14 22,077,399 (GRCm39) splice site probably benign
R3722:Lrmda UTSW 14 22,077,399 (GRCm39) splice site probably benign
R4242:Lrmda UTSW 14 22,077,303 (GRCm39) nonsense probably null
R5393:Lrmda UTSW 14 22,077,374 (GRCm39) missense probably damaging 1.00
R6562:Lrmda UTSW 14 22,648,254 (GRCm39) intron probably benign
R6749:Lrmda UTSW 14 22,077,344 (GRCm39) missense probably benign 0.02
R7155:Lrmda UTSW 14 22,634,608 (GRCm39) missense probably damaging 1.00
R7560:Lrmda UTSW 14 22,878,770 (GRCm39) missense probably benign 0.15
R7580:Lrmda UTSW 14 22,069,925 (GRCm39) start gained probably benign
R7920:Lrmda UTSW 14 22,646,546 (GRCm39) missense probably damaging 1.00
R9217:Lrmda UTSW 14 22,648,361 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GGACTTCAGAGACAGCCAAC -3'
(R):5'- TAGGCCCCATTTCAGACATAAGG -3'

Sequencing Primer
(F):5'- GACTTCAGAGACAGCCAACATCAC -3'
(R):5'- AGCTCAGGAATTCATGACCCAGTG -3'
Posted On 2019-12-20