Incidental Mutation 'R3720:Lrmda'
Institutional Source Beutler Lab
Gene Symbol Lrmda
Ensembl Gene ENSMUSG00000063458
Gene Nameleucine rich melanocyte differentiation associated
SynonymsOca7, 1700112E06Rik
MMRRC Submission 040711-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R3720 (G1)
Quality Score225
Status Validated
Chromosomal Location22019712-23056085 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 22027331 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075639] [ENSMUST00000159777] [ENSMUST00000161249] [ENSMUST00000162540]
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 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: 26,927,844 T575M probably damaging Het
Atp2c1 A T 9: 105,422,976 M708K probably damaging Het
C9 A G 15: 6,483,119 T241A possibly damaging Het
Ccrl2 T C 9: 111,056,364 D22G probably benign Het
Cd47 A G 16: 49,867,842 I42V probably benign Het
Cntnap5c T C 17: 58,330,202 S1025P probably benign Het
Col8a1 T C 16: 57,626,916 M744V unknown Het
Cstf3 A G 2: 104,653,086 probably benign Het
Dnah8 G A 17: 30,854,898 R4514H probably damaging Het
Dnaic1 G A 4: 41,602,615 R113H probably damaging Het
Fry T C 5: 150,454,572 S410P probably damaging Het
Glt6d1 ACCC ACCCC 2: 25,795,167 probably null Het
Gm10717 A G 9: 3,025,532 Y39C probably benign Het
Hivep1 C T 13: 42,158,601 T1439I probably benign Het
Iqgap2 T C 13: 95,668,528 probably null Het
Kbtbd11 T A 8: 15,029,118 C572* probably null Het
Kif1c T C 11: 70,703,771 F86L possibly damaging Het
Kirrel C T 3: 87,089,151 M380I probably null Het
Ldb1 C T 19: 46,044,892 probably benign Het
Med23 T C 10: 24,891,120 L369S probably damaging Het
Mei1 A G 15: 82,103,204 H399R possibly damaging Het
Myo1b G T 1: 51,776,346 H614N possibly damaging Het
Neurl1b C T 17: 26,414,975 T4M probably damaging Het
Olfr1095 T C 2: 86,851,591 T36A probably benign Het
Olfr129 T C 17: 38,055,368 Y66C probably damaging Het
Polg G A 7: 79,456,791 Q163* probably null Het
Pramef8 A G 4: 143,419,379 T473A probably benign Het
Sdk2 G A 11: 113,800,244 P1835L probably damaging Het
Slc35a5 A T 16: 45,147,322 I138N probably damaging Het
Snx31 T C 15: 36,523,558 probably null Het
Speg A T 1: 75,426,782 H2590L probably damaging Het
Spink4 T A 4: 40,929,136 C54S probably damaging Het
Swap70 A G 7: 110,270,047 E349G probably damaging Het
Sybu A G 15: 44,672,632 V766A possibly damaging Het
Tns3 G A 11: 8,492,999 R455W probably damaging Het
Tnxb T A 17: 34,712,964 V2157E possibly damaging Het
Trak2 A T 1: 58,946,245 probably null Het
Trav18 C T 14: 53,831,617 R39C possibly damaging Het
Uroc1 G A 6: 90,346,355 V352M probably damaging Het
Zfp106 A C 2: 120,534,599 I442M probably benign Het
Zfp935 G A 13: 62,455,032 Q98* probably null 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
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
R7920:Lrmda UTSW 14 22596478 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-01-23