Incidental Mutation 'IGL01398:Gpnmb'
ID 79541
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpnmb
Ensembl Gene ENSMUSG00000029816
Gene Name glycoprotein (transmembrane) nmb
Synonyms Osteoactivin, DC-HIL, Dchil
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01398
Quality Score
Status
Chromosome 6
Chromosomal Location 49013449-49044413 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 49027365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 363 (M363K)
Ref Sequence ENSEMBL: ENSMUSP00000145376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031840] [ENSMUST00000204260]
AlphaFold Q99P91
Predicted Effect probably benign
Transcript: ENSMUST00000031840
AA Change: M363K

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000031840
Gene: ENSMUSG00000029816
AA Change: M363K

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: ENSMUST00000204260
AA Change: M363K

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000145376
Gene: ENSMUSG00000029816
AA Change: M363K

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
Coding Region Coverage
Validation Efficiency
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 T C 11: 69,772,548 (GRCm39) D521G probably damaging Het
Apol11b G A 15: 77,522,219 (GRCm39) T26M probably damaging Het
Best2 T A 8: 85,735,956 (GRCm39) Y326F probably damaging Het
Clca3a1 T C 3: 144,722,512 (GRCm39) T287A possibly damaging Het
Cyp26a1 C T 19: 37,686,395 (GRCm39) T13I probably damaging Het
Dhcr7 T C 7: 143,395,056 (GRCm39) S188P probably damaging Het
Eml3 T G 19: 8,911,598 (GRCm39) probably benign Het
Faf1 A T 4: 109,593,793 (GRCm39) I124F probably damaging Het
Fkbp9 T A 6: 56,837,790 (GRCm39) probably benign Het
Foxq1 G A 13: 31,743,434 (GRCm39) D179N probably damaging Het
Frem1 C T 4: 82,868,599 (GRCm39) V1443M possibly damaging Het
Grm3 T C 5: 9,535,762 (GRCm39) probably benign Het
Ints3 A G 3: 90,300,130 (GRCm39) L929P probably damaging Het
Myh11 T A 16: 14,019,964 (GRCm39) I1823F probably damaging Het
Nudt9 T C 5: 104,212,979 (GRCm39) *351Q probably null Het
Or2ak6 A T 11: 58,592,593 (GRCm39) H22L probably benign Het
Or4c107 C T 2: 88,789,193 (GRCm39) P128S probably damaging Het
Or8k38 A T 2: 86,488,032 (GRCm39) F257I probably damaging Het
Pgr15l C T X: 96,121,785 (GRCm39) T392I probably benign Het
Sdk1 C A 5: 141,923,332 (GRCm39) L318I probably benign Het
Sult1c2 C A 17: 54,269,180 (GRCm39) V279L possibly damaging Het
Tek T C 4: 94,738,014 (GRCm39) I688T probably damaging Het
Telo2 A T 17: 25,324,748 (GRCm39) D477E probably benign Het
Ubr3 T A 2: 69,789,997 (GRCm39) Y884N probably damaging Het
Upf3a C A 8: 13,836,221 (GRCm39) H92Q probably damaging Het
Vmn2r51 C T 7: 9,836,341 (GRCm39) E147K probably benign Het
Vps54 A G 11: 21,245,403 (GRCm39) probably benign Het
Zdhhc14 T C 17: 5,762,738 (GRCm39) I214T possibly damaging 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
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
R6103:Gpnmb UTSW 6 49,019,820 (GRCm39) missense possibly damaging 0.86
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
Posted On 2013-11-05