Incidental Mutation 'R6749:Lrmda'
ID 532905
Institutional Source Beutler Lab
Gene Symbol Lrmda
Ensembl Gene ENSMUSG00000063458
Gene Name leucine rich melanocyte differentiation associated
Synonyms Oca7, 1700112E06Rik
MMRRC Submission 044866-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6749 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 22069780-23106153 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 22077344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 27 (R27L)
Ref Sequence ENSEMBL: ENSMUSP00000075065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075639] [ENSMUST00000159777] [ENSMUST00000161249] [ENSMUST00000162540]
AlphaFold Q9D9B4
Predicted Effect probably benign
Transcript: ENSMUST00000075639
AA Change: R27L

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000075065
Gene: ENSMUSG00000063458
AA Change: R27L

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
AA Change: R27L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000125751
Gene: ENSMUSG00000063458
AA Change: R27L

DomainStartEndE-ValueType
SCOP:d1h6ua2 34 109 1e-8 SMART
LRRcap 129 147 6.28e-1 SMART
Predicted Effect unknown
Transcript: ENSMUST00000161249
AA Change: R27L
SMART Domains Protein: ENSMUSP00000124221
Gene: ENSMUSG00000063458
AA Change: R27L

DomainStartEndE-ValueType
low complexity region 78 95 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162540
AA Change: R27L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000124436
Gene: ENSMUSG00000063458
AA Change: R27L

DomainStartEndE-ValueType
low complexity region 55 82 N/A INTRINSIC
LRRcap 129 147 6.28e-1 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 100% (47/47)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 119,901,600 (GRCm39) V875A possibly damaging Het
Arhgef15 A T 11: 68,845,383 (GRCm39) F156L probably damaging Het
Bdh2 T A 3: 135,006,452 (GRCm39) S184T probably damaging Het
Bmp5 A T 9: 75,683,375 (GRCm39) M1L probably benign Het
Cacfd1 T C 2: 26,908,467 (GRCm39) Y134H probably damaging Het
Camk1 G A 6: 113,311,486 (GRCm39) P340L probably benign Het
Cdc14a T C 3: 116,090,807 (GRCm39) H424R possibly damaging Het
Cntfr T A 4: 41,663,232 (GRCm39) T192S possibly damaging Het
Erbin G T 13: 103,970,885 (GRCm39) S910R probably damaging Het
Esrp1 A T 4: 11,357,519 (GRCm39) V366E probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fsip2 T A 2: 82,808,738 (GRCm39) S1686T possibly damaging Het
Gata5 A G 2: 179,976,143 (GRCm39) L7S probably damaging Het
Hgf T A 5: 16,818,640 (GRCm39) probably null Het
Ift140 A G 17: 25,317,890 (GRCm39) E1458G probably damaging Het
Ift57 G A 16: 49,581,347 (GRCm39) G209R probably benign Het
Il12rb2 G T 6: 67,338,950 (GRCm39) probably benign Het
Krt78 G A 15: 101,859,358 (GRCm39) R280C probably damaging Het
Lipc A G 9: 70,730,668 (GRCm39) I88T probably damaging Het
Lrrc37a T G 11: 103,392,923 (GRCm39) E834A probably benign Het
Mmachc C A 4: 116,561,738 (GRCm39) R132L probably damaging Het
Myo10 T C 15: 25,714,196 (GRCm39) Y88H probably damaging Het
Myo5b G A 18: 74,834,574 (GRCm39) R878Q possibly damaging Het
Or2y1f A G 11: 49,184,877 (GRCm39) H243R probably damaging Het
Padi3 T C 4: 140,523,164 (GRCm39) T289A possibly damaging Het
Pcdhgb4 G T 18: 37,854,282 (GRCm39) A226S possibly damaging Het
Pde4c T C 8: 71,198,659 (GRCm39) V167A probably damaging Het
Pigr A G 1: 130,774,285 (GRCm39) T422A probably benign Het
Pmp2 T C 3: 10,247,542 (GRCm39) Y49C probably benign Het
Prpf39 A G 12: 65,103,048 (GRCm39) I441V possibly damaging Het
Ptprs A G 17: 56,744,884 (GRCm39) V284A probably damaging Het
Rsad1 T C 11: 94,434,166 (GRCm39) E354G probably damaging Het
Sema4b T A 7: 79,869,949 (GRCm39) D412E possibly damaging Het
Siglecg A G 7: 43,058,403 (GRCm39) I97V probably benign Het
Slc4a3 C T 1: 75,531,182 (GRCm39) R792* probably null Het
Slc6a20a A G 9: 123,466,135 (GRCm39) C569R probably damaging Het
Spata19 T C 9: 27,309,276 (GRCm39) V59A probably benign Het
Sult2a3 T A 7: 13,816,629 (GRCm39) Y183F probably benign Het
Tedc1 C T 12: 113,121,702 (GRCm39) T194M probably damaging Het
Tektl1 A C 10: 78,588,672 (GRCm39) M46R possibly damaging Het
Tmem63c T A 12: 87,122,439 (GRCm39) N412K probably damaging Het
Trav5-1 T C 14: 52,860,402 (GRCm39) I69T possibly damaging Het
Trim68 T C 7: 102,327,990 (GRCm39) D321G probably damaging Het
Ttn T C 2: 76,695,600 (GRCm39) probably benign Het
Vars2 A G 17: 35,977,605 (GRCm39) V109A probably damaging Het
Vmn2r96 C T 17: 18,818,352 (GRCm39) P643L probably damaging Het
Zfpm2 G T 15: 40,818,104 (GRCm39) V146F possibly damaging Het
Znfx1 T C 2: 166,898,519 (GRCm39) K135R 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
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
R7885:Lrmda UTSW 14 22,648,388 (GRCm39) missense unknown
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'- GCTCACTGTGACAGGAAAGG -3'
(R):5'- AAGATCGTTTGCAGCAGGGTC -3'

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