Incidental Mutation 'R6103:Gpnmb'
ID 485375
Institutional Source Beutler Lab
Gene Symbol Gpnmb
Ensembl Gene ENSMUSG00000029816
Gene Name glycoprotein (transmembrane) nmb
Synonyms Osteoactivin, DC-HIL, Dchil
MMRRC Submission 044253-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6103 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 49013449-49044413 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49019820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 64 (R64G)
Ref Sequence ENSEMBL: ENSMUSP00000145376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031840] [ENSMUST00000203757] [ENSMUST00000204260]
AlphaFold Q99P91
Predicted Effect possibly damaging
Transcript: ENSMUST00000031840
AA Change: R64G

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031840
Gene: ENSMUSG00000029816
AA Change: R64G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 155 165 N/A INTRINSIC
PKD 250 386 4.96e-9 SMART
transmembrane domain 500 522 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203757
Predicted Effect possibly damaging
Transcript: ENSMUST00000204260
AA Change: R64G

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000145376
Gene: ENSMUSG00000029816
AA Change: R64G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 155 165 N/A INTRINSIC
PKD 250 386 4.96e-9 SMART
transmembrane domain 503 525 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205103
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 95.0%
Validation Efficiency 100% (55/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type I transmembrane glycoprotein which shows homology to the pMEL17 precursor, a melanocyte-specific protein. GPNMB shows expression in the lowly metastatic human melanoma cell lines and xenografts but does not show expression in the highly metastatic cell lines. GPNMB may be involved in growth delay and reduction of metastatic potential. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants exhibit dispersed pigmentation of the iris, deterioration of the posterior iris epithelium and slit-like transillumination defects. The mutation contributes to glaucoma, especially in combination with the brown coat color mutation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A G 7: 45,768,445 (GRCm39) S926P possibly damaging Het
Acacb T A 5: 114,383,942 (GRCm39) M2157K probably damaging Het
Aco2 T C 15: 81,797,452 (GRCm39) V636A probably benign Het
Adgrf3 T C 5: 30,401,265 (GRCm39) Y51C probably damaging Het
Adprhl1 T C 8: 13,272,055 (GRCm39) T1568A possibly damaging Het
Ank1 T A 8: 23,603,999 (GRCm39) S937T probably damaging Het
Ankrd50 T C 3: 38,508,578 (GRCm39) E340G probably damaging Het
Avpr1b C T 1: 131,537,155 (GRCm39) P90S probably damaging Het
Cacna2d3 T C 14: 29,118,446 (GRCm39) H159R probably damaging Het
Carmil3 A T 14: 55,742,884 (GRCm39) T1185S probably benign Het
Casp2 A T 6: 42,256,814 (GRCm39) R357S probably damaging Het
Ccdc34 A G 2: 109,848,352 (GRCm39) D47G probably benign Het
Cd109 A G 9: 78,605,596 (GRCm39) probably null Het
Cd209d T C 8: 3,928,304 (GRCm39) Y27C probably damaging Het
Cep350 T A 1: 155,800,322 (GRCm39) D1176V probably benign Het
Cpd A T 11: 76,690,625 (GRCm39) S844T probably benign Het
Cyp4x1 A G 4: 114,968,864 (GRCm39) L380P probably damaging Het
Dscam A G 16: 96,626,781 (GRCm39) V376A probably benign Het
Enam T A 5: 88,650,187 (GRCm39) N565K probably damaging Het
Fam110c G A 12: 31,124,794 (GRCm39) W252* probably null Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Fgb T C 3: 82,951,170 (GRCm39) D281G probably benign Het
Frem2 T A 3: 53,457,209 (GRCm39) T2048S probably benign Het
Fut8 A T 12: 77,378,721 (GRCm39) probably benign Het
Glmp T C 3: 88,235,338 (GRCm39) S238P probably benign Het
Gm35315 T A 5: 110,226,137 (GRCm39) Y434F probably damaging Het
Gnpnat1 A G 14: 45,620,856 (GRCm39) F71S probably damaging Het
Grxcr1 T C 5: 68,323,547 (GRCm39) F275S possibly damaging Het
Ift140 T A 17: 25,312,100 (GRCm39) C1314S probably damaging Het
Kif9 T C 9: 110,318,917 (GRCm39) I127T possibly damaging Het
Mmd2 A G 5: 142,553,618 (GRCm39) probably null Het
Ms4a3 A T 19: 11,616,582 (GRCm39) V20D possibly damaging Het
Mtres1 A T 10: 43,408,916 (GRCm39) Y76N probably benign Het
Myh7b A G 2: 155,460,663 (GRCm39) E272G probably damaging Het
Naaladl1 G A 19: 6,158,743 (GRCm39) G292S probably damaging Het
Notch2 T A 3: 98,043,059 (GRCm39) Y1475N possibly damaging Het
Obp2a G A 2: 25,590,163 (GRCm39) E21K probably damaging Het
Or5ar1 A G 2: 85,671,776 (GRCm39) Y120H probably damaging Het
Osbpl10 T A 9: 114,890,940 (GRCm39) Y109* probably null Het
Plcd1 A T 9: 118,901,109 (GRCm39) W749R probably benign Het
Ptpro A G 6: 137,377,704 (GRCm39) E718G possibly damaging Het
Rbm4 C T 19: 4,837,947 (GRCm39) R295H probably damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Setdb2 T C 14: 59,646,981 (GRCm39) probably null Het
Slc25a18 C A 6: 120,766,399 (GRCm39) L131I probably damaging Het
Slc4a10 A G 2: 62,064,809 (GRCm39) H221R probably damaging Het
Tbc1d32 A T 10: 56,026,979 (GRCm39) W757R probably damaging Het
Tmem183a C A 1: 134,275,884 (GRCm39) V331L probably benign Het
Try10 C A 6: 41,333,484 (GRCm39) H76Q probably damaging Het
Ttn T A 2: 76,748,599 (GRCm39) H4150L probably benign Het
Vmn2r52 G A 7: 9,905,327 (GRCm39) P171S probably benign Het
Vmn2r88 A G 14: 51,652,826 (GRCm39) T450A probably benign Het
Yipf7 A T 5: 69,698,405 (GRCm39) V34D probably benign Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zg16 A G 7: 126,649,748 (GRCm39) V71A probably benign Het
Other mutations in Gpnmb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Gpnmb APN 6 49,032,593 (GRCm39) missense probably benign 0.01
IGL01291:Gpnmb APN 6 49,032,615 (GRCm39) missense probably benign 0.12
IGL01307:Gpnmb APN 6 49,022,299 (GRCm39) missense probably benign 0.03
IGL01398:Gpnmb APN 6 49,027,365 (GRCm39) missense probably benign 0.02
IGL01531:Gpnmb APN 6 49,024,392 (GRCm39) splice site probably benign
IGL01936:Gpnmb APN 6 49,024,384 (GRCm39) missense probably null 1.00
ANU05:Gpnmb UTSW 6 49,032,615 (GRCm39) missense probably benign 0.12
R0242:Gpnmb UTSW 6 49,024,276 (GRCm39) missense probably damaging 0.99
R0242:Gpnmb UTSW 6 49,024,276 (GRCm39) missense probably damaging 0.99
R0413:Gpnmb UTSW 6 49,019,737 (GRCm39) missense probably benign
R0690:Gpnmb UTSW 6 49,024,949 (GRCm39) missense probably benign 0.24
R0884:Gpnmb UTSW 6 49,024,847 (GRCm39) missense possibly damaging 0.65
R1659:Gpnmb UTSW 6 49,024,786 (GRCm39) missense probably damaging 1.00
R3703:Gpnmb UTSW 6 49,028,799 (GRCm39) missense possibly damaging 0.95
R3705:Gpnmb UTSW 6 49,028,799 (GRCm39) missense possibly damaging 0.95
R4629:Gpnmb UTSW 6 49,027,994 (GRCm39) missense possibly damaging 0.82
R4782:Gpnmb UTSW 6 49,022,417 (GRCm39) splice site probably null
R4799:Gpnmb UTSW 6 49,022,417 (GRCm39) splice site probably null
R4916:Gpnmb UTSW 6 49,028,904 (GRCm39) missense probably damaging 1.00
R5223:Gpnmb UTSW 6 49,033,139 (GRCm39) missense probably benign 0.01
R5390:Gpnmb UTSW 6 49,024,775 (GRCm39) missense probably damaging 1.00
R5512:Gpnmb UTSW 6 49,022,398 (GRCm39) missense possibly damaging 0.62
R5833:Gpnmb UTSW 6 49,020,952 (GRCm39) missense probably damaging 1.00
R7211:Gpnmb UTSW 6 49,028,949 (GRCm39) missense possibly damaging 0.82
R7900:Gpnmb UTSW 6 49,027,400 (GRCm39) missense possibly damaging 0.83
R8859:Gpnmb UTSW 6 49,028,964 (GRCm39) splice site probably benign
R9383:Gpnmb UTSW 6 49,028,918 (GRCm39) missense probably damaging 1.00
R9393:Gpnmb UTSW 6 49,024,996 (GRCm39) missense possibly damaging 0.89
Z1176:Gpnmb UTSW 6 49,028,766 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- TCTGCATGTGCTTCCCAATG -3'
(R):5'- CTTCAGAAAGTGGAGCTGTTGAG -3'

Sequencing Primer
(F):5'- GCATGTGCTTCCCAATGATTGAAATG -3'
(R):5'- GGGAGGAGGGAAGCTTGCC -3'
Posted On 2017-08-16