Incidental Mutation 'R3720:Lrmda'
ID 258868
Institutional Source Beutler Lab
Gene Symbol Lrmda
Ensembl Gene ENSMUSG00000063458
Gene Name leucine rich melanocyte differentiation associated
Synonyms Oca7, 1700112E06Rik
MMRRC Submission 040711-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3720 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 22069780-23106153 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 22077399 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075639] [ENSMUST00000159777] [ENSMUST00000161249] [ENSMUST00000162540]
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 noncoding transcript
Transcript: ENSMUST00000225573
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 93% (40/43)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Appl1 G A 14: 26,649,801 (GRCm39) T575M probably damaging Het
Atp2c1 A T 9: 105,300,175 (GRCm39) M708K probably damaging Het
C9 A G 15: 6,512,600 (GRCm39) T241A possibly damaging Het
Ccrl2 T C 9: 110,885,432 (GRCm39) D22G probably benign Het
Cd47 A G 16: 49,688,205 (GRCm39) I42V probably benign Het
Cntnap5c T C 17: 58,637,197 (GRCm39) S1025P probably benign Het
Col8a1 T C 16: 57,447,279 (GRCm39) M744V unknown Het
Cstf3 A G 2: 104,483,431 (GRCm39) probably benign Het
Dnah8 G A 17: 31,073,872 (GRCm39) R4514H probably damaging Het
Dnai1 G A 4: 41,602,615 (GRCm39) R113H probably damaging Het
Fry T C 5: 150,378,037 (GRCm39) S410P probably damaging Het
Glt6d1 ACCC ACCCC 2: 25,685,179 (GRCm39) probably null Het
Gm10717 A G 9: 3,025,532 (GRCm39) Y39C probably benign Het
Hivep1 C T 13: 42,312,077 (GRCm39) T1439I probably benign Het
Iqgap2 T C 13: 95,805,036 (GRCm39) probably null Het
Kbtbd11 T A 8: 15,079,118 (GRCm39) C572* probably null Het
Kif1c T C 11: 70,594,597 (GRCm39) F86L possibly damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Ldb1 C T 19: 46,033,331 (GRCm39) probably benign Het
Med23 T C 10: 24,767,018 (GRCm39) L369S probably damaging Het
Mei1 A G 15: 81,987,405 (GRCm39) H399R possibly damaging Het
Myo1b G T 1: 51,815,505 (GRCm39) H614N possibly damaging Het
Neurl1b C T 17: 26,633,949 (GRCm39) T4M probably damaging Het
Or10al7 T C 17: 38,366,259 (GRCm39) Y66C probably damaging Het
Or5t15 T C 2: 86,681,935 (GRCm39) T36A probably benign Het
Polg G A 7: 79,106,539 (GRCm39) Q163* probably null Het
Pramel12 A G 4: 143,145,949 (GRCm39) T473A probably benign Het
Sdk2 G A 11: 113,691,070 (GRCm39) P1835L probably damaging Het
Slc35a5 A T 16: 44,967,685 (GRCm39) I138N probably damaging Het
Snx31 T C 15: 36,523,704 (GRCm39) probably null Het
Speg A T 1: 75,403,426 (GRCm39) H2590L probably damaging Het
Spink4 T A 4: 40,929,136 (GRCm39) C54S probably damaging Het
Swap70 A G 7: 109,869,254 (GRCm39) E349G probably damaging Het
Sybu A G 15: 44,536,028 (GRCm39) V766A possibly damaging Het
Tns3 G A 11: 8,442,999 (GRCm39) R455W probably damaging Het
Tnxb T A 17: 34,931,938 (GRCm39) V2157E possibly damaging Het
Trak2 A T 1: 58,985,404 (GRCm39) probably null Het
Trav18 C T 14: 54,069,074 (GRCm39) R39C possibly damaging Het
Uroc1 G A 6: 90,323,337 (GRCm39) V352M probably damaging Het
Zfp106 A C 2: 120,365,080 (GRCm39) I442M probably benign Het
Zfp935 G A 13: 62,602,846 (GRCm39) Q98* probably null 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
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
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'- AAGGTTGAGGTACCAGTCATG -3'
(R):5'- TCAGGTGCTCTGACCTTCTTAG -3'

Sequencing Primer
(F):5'- TCATGGGACCGGTGACTCTG -3'
(R):5'- TCTGACCTTCTTAGGCAGCACTAAAG -3'
Posted On 2015-01-23