Incidental Mutation 'R5223:Gpnmb'
ID 402422
Institutional Source Beutler Lab
Gene Symbol Gpnmb
Ensembl Gene ENSMUSG00000029816
Gene Name glycoprotein (transmembrane) nmb
Synonyms Osteoactivin, DC-HIL, Dchil
MMRRC Submission 042796-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5223 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 49013449-49044413 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 49033139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 539 (T539M)
Ref Sequence ENSEMBL: ENSMUSP00000031840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031840] [ENSMUST00000204260]
AlphaFold Q99P91
Predicted Effect probably benign
Transcript: ENSMUST00000031840
AA Change: T539M

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000031840
Gene: ENSMUSG00000029816
AA Change: T539M

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
SMART Domains Protein: ENSMUSP00000145376
Gene: ENSMUSG00000029816

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.2%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk C T 11: 119,904,278 (GRCm39) V273M possibly damaging Het
Acin1 CCGC CC 14: 54,880,398 (GRCm39) probably null Het
Acvr1b T A 15: 101,091,857 (GRCm39) C46S probably damaging Het
Ahi1 A T 10: 20,846,818 (GRCm39) H416L possibly damaging Het
Aspm T A 1: 139,406,072 (GRCm39) L1653Q probably damaging Het
Cacna1a G A 8: 85,313,824 (GRCm39) V1533M possibly damaging Het
Ccdc33 C T 9: 57,940,267 (GRCm39) E502K possibly damaging Het
Ctnnd1 C T 2: 84,447,133 (GRCm39) V371M probably damaging Het
Cyp2a12 A T 7: 26,735,888 (GRCm39) probably null Het
Dnai4 T A 4: 102,906,600 (GRCm39) S738C possibly damaging Het
Ep400 A G 5: 110,816,496 (GRCm39) V2675A probably damaging Het
Foxh1 T A 15: 76,552,929 (GRCm39) probably null Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Hdac1-ps A G 17: 78,799,867 (GRCm39) E286G probably benign Het
Hspa9 A G 18: 35,085,724 (GRCm39) probably null Het
Hspg2 T C 4: 137,271,225 (GRCm39) L2454P probably damaging Het
Ift140 T A 17: 25,254,786 (GRCm39) I422N probably benign Het
Igkv6-32 T C 6: 70,051,207 (GRCm39) S50G probably benign Het
Il23r T A 6: 67,463,154 (GRCm39) Y113F probably benign Het
Kcnt1 A G 2: 25,793,434 (GRCm39) D636G probably benign Het
Klhl41 G A 2: 69,510,171 (GRCm39) W569* probably null Het
Klra4 T A 6: 130,039,110 (GRCm39) D94V probably damaging Het
Lca5 T A 9: 83,280,666 (GRCm39) H378L probably benign Het
Lhx8 T A 3: 154,027,281 (GRCm39) T254S probably damaging Het
Lrch3 C T 16: 32,734,767 (GRCm39) R86W probably damaging Het
Lrp2 T A 2: 69,354,397 (GRCm39) N477I probably damaging Het
Man2a1 T A 17: 65,019,266 (GRCm39) I710K probably benign Het
Ncor1 A T 11: 62,229,826 (GRCm39) Y881N probably damaging Het
Nhsl1 T A 10: 18,402,074 (GRCm39) V1100E probably damaging Het
Oprk1 T C 1: 5,659,519 (GRCm39) V83A probably benign Het
Or4p8 T C 2: 88,727,678 (GRCm39) T88A probably benign Het
Or5p62 A G 7: 107,771,915 (GRCm39) V12A probably benign Het
Or7g35 T C 9: 19,496,322 (GRCm39) V163A probably benign Het
Pacs1 C T 19: 5,195,169 (GRCm39) V472I probably benign Het
Pard3b T C 1: 62,383,272 (GRCm39) Y789H probably damaging Het
Pcdha2 T C 18: 37,073,844 (GRCm39) Y492H probably damaging Het
Pcnt T C 10: 76,216,106 (GRCm39) N2261D probably damaging Het
Pex5l A T 3: 33,012,945 (GRCm39) S15T probably damaging Het
Plekhg4 A G 8: 106,105,581 (GRCm39) N682S probably benign Het
Poc5 A T 13: 96,539,463 (GRCm39) M335L probably benign Het
Polr1a C T 6: 71,944,891 (GRCm39) R1316W possibly damaging Het
Pp2d1 T C 17: 53,814,873 (GRCm39) H617R probably benign Het
Pramel24 T A 4: 143,454,591 (GRCm39) S296R probably benign Het
Prpsap1 T C 11: 116,378,974 (GRCm39) K65E probably benign Het
Ptgfrn T C 3: 100,952,909 (GRCm39) E775G probably benign Het
Ptprc T A 1: 138,045,600 (GRCm39) I87F probably benign Het
Rbbp8 C A 18: 11,854,747 (GRCm39) A324E probably benign Het
Rfx6 G T 10: 51,554,092 (GRCm39) G63* probably null Het
Rpl37a T C 1: 72,751,308 (GRCm39) M47T probably benign Het
Samm50 T G 15: 84,084,831 (GRCm39) N187K probably benign Het
Skic2 A G 17: 35,064,142 (GRCm39) probably null Het
Slamf9 T C 1: 172,303,799 (GRCm39) I48T possibly damaging Het
Slc2a12 A G 10: 22,577,931 (GRCm39) K576E probably damaging Het
Slc4a10 G A 2: 62,083,710 (GRCm39) G388S probably damaging Het
Smtn G T 11: 3,479,530 (GRCm39) N512K probably benign Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Sspo A G 6: 48,455,258 (GRCm39) Y3040C probably damaging Het
Stat1 T A 1: 52,183,401 (GRCm39) V389E probably damaging Het
Sult5a1 A T 8: 123,872,161 (GRCm39) M227K probably damaging Het
Thsd4 T C 9: 59,964,325 (GRCm39) D389G probably damaging Het
Tnxb T C 17: 34,923,052 (GRCm39) V2545A possibly damaging Het
Tpo T A 12: 30,142,589 (GRCm39) I712F probably damaging Het
Trim62 T C 4: 128,803,204 (GRCm39) V418A probably damaging Het
Uqcrc1 C A 9: 108,771,224 (GRCm39) H95N probably damaging Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r66 T C 7: 84,657,093 (GRCm39) D104G probably benign Het
Wdr26 T C 1: 181,015,251 (GRCm39) I371V probably benign Het
Zfp273 T G 13: 67,974,298 (GRCm39) C475W probably damaging Het
Zfp738 G T 13: 67,821,182 (GRCm39) T55K probably damaging Het
Zmym2 A G 14: 57,183,971 (GRCm39) I978V 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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-07-22