Incidental Mutation 'R9383:Gpnmb'
ID 710147
Institutional Source Beutler Lab
Gene Symbol Gpnmb
Ensembl Gene ENSMUSG00000029816
Gene Name glycoprotein (transmembrane) nmb
Synonyms Osteoactivin, Dchil
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9383 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 49036546-49070929 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49051984 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 479 (S479G)
Ref Sequence ENSEMBL: ENSMUSP00000031840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031840] [ENSMUST00000204260]
AlphaFold Q99P91
Predicted Effect probably damaging
Transcript: ENSMUST00000031840
AA Change: S479G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031840
Gene: ENSMUSG00000029816
AA Change: S479G

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 damaging
Transcript: ENSMUST00000204260
AA Change: S479G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145376
Gene: ENSMUSG00000029816
AA Change: S479G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg5 A G 8: 94,934,534 E124G Het
Atp1a2 T C 1: 172,279,767 I729V probably benign Het
Chd2 T A 7: 73,449,170 E1467V probably null Het
Col6a5 T C 9: 105,925,911 D1285G unknown Het
Coro7 A G 16: 4,635,024 C287R probably damaging Het
Cpa3 T C 3: 20,228,881 E134G probably benign Het
Csf3r C T 4: 126,043,446 P708S possibly damaging Het
Ctgf T G 10: 24,595,985 V58G possibly damaging Het
Defb30 T C 14: 63,036,014 E49G probably benign Het
Dnah3 A T 7: 120,047,596 I1070K probably benign Het
Dnm2 G A 9: 21,472,624 V234M probably damaging Het
Drg2 T A 11: 60,459,461 M82K probably benign Het
Dus2 G A 8: 106,050,318 E312K probably benign Het
Efcab6 T C 15: 83,872,419 E1240G possibly damaging Het
Ep400 T C 5: 110,685,485 E1957G unknown Het
Gpr153 T C 4: 152,283,059 S456P probably benign Het
Gprc5b A T 7: 118,976,538 M388K probably damaging Het
H2-T23 T C 17: 36,032,335 D50G possibly damaging Het
Hipk1 T C 3: 103,777,567 E244G probably damaging Het
Malrd1 T A 2: 15,695,201 C620S unknown Het
Maz G A 7: 127,024,911 Q358* probably null Het
Mcc A T 18: 44,442,918 I901N probably benign Het
Megf11 T G 9: 64,638,450 C172G probably damaging Het
Mipol1 A G 12: 57,306,034 Y53C probably benign Het
Nectin4 C T 1: 171,385,683 T391I probably damaging Het
Nell2 A T 15: 95,385,076 Y362N possibly damaging Het
Nphp4 T C 4: 152,544,461 probably null Het
Nsun4 A G 4: 116,034,276 V302A probably benign Het
Odf2 T A 2: 29,901,237 L181H probably damaging Het
Olfr1076 T C 2: 86,508,510 I17T probably damaging Het
Opn1sw A G 6: 29,378,001 S328P possibly damaging Het
Pga5 C T 19: 10,669,533 G303S probably damaging Het
Pik3c2g T A 6: 139,882,016 Y712* probably null Het
Pkd1 C T 17: 24,575,926 R2196C probably damaging Het
Pkd1l3 TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA TATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCA 8: 109,623,969 probably benign Het
Plekhm2 A T 4: 141,632,301 M385K probably damaging Het
Pole T C 5: 110,291,026 V164A possibly damaging Het
Prr19 T A 7: 25,302,910 F11Y probably damaging Het
Prtg G T 9: 72,849,861 L355F probably benign Het
Raph1 C A 1: 60,525,670 M219I unknown Het
Rtkn2 A G 10: 68,003,264 D140G possibly damaging Het
Serpina5 T C 12: 104,103,872 S343P probably damaging Het
Slc1a1 A G 19: 28,911,725 K466R probably benign Het
Slc43a1 G A 2: 84,860,162 V518M probably damaging Het
Slc47a2 A G 11: 61,336,923 L125P probably damaging Het
Slc4a7 C A 14: 14,766,803 C585* probably null Het
Snx19 A G 9: 30,435,900 E713G probably damaging Het
Tiam1 C T 16: 89,858,673 V715M probably damaging Het
Tln2 T A 9: 67,370,761 M322L probably benign Het
Top2a G A 11: 99,011,058 R449* probably null Het
Trpv4 C A 5: 114,658,413 probably benign Het
Vmn1r214 A C 13: 23,034,925 R196S probably benign Het
Vmn1r43 A T 6: 89,869,570 H311Q possibly damaging Het
Vmn1r54 A G 6: 90,270,027 T308A probably benign Het
Zfand3 T A 17: 30,135,505 Y99N probably benign Het
Zfp119b T C 17: 55,939,355 Y277C probably damaging Het
Zfp345 G A 2: 150,472,583 H345Y possibly damaging Het
Zyg11a T C 4: 108,189,729 E516G probably damaging Het
Other mutations in Gpnmb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Gpnmb APN 6 49055659 missense probably benign 0.01
IGL01291:Gpnmb APN 6 49055681 missense probably benign 0.12
IGL01307:Gpnmb APN 6 49045365 missense probably benign 0.03
IGL01398:Gpnmb APN 6 49050431 missense probably benign 0.02
IGL01531:Gpnmb APN 6 49047458 splice site probably benign
IGL01936:Gpnmb APN 6 49047450 missense probably null 1.00
ANU05:Gpnmb UTSW 6 49055681 missense probably benign 0.12
R0242:Gpnmb UTSW 6 49047342 missense probably damaging 0.99
R0242:Gpnmb UTSW 6 49047342 missense probably damaging 0.99
R0413:Gpnmb UTSW 6 49042803 missense probably benign
R0690:Gpnmb UTSW 6 49048015 missense probably benign 0.24
R0884:Gpnmb UTSW 6 49047913 missense possibly damaging 0.65
R1659:Gpnmb UTSW 6 49047852 missense probably damaging 1.00
R3703:Gpnmb UTSW 6 49051865 missense possibly damaging 0.95
R3705:Gpnmb UTSW 6 49051865 missense possibly damaging 0.95
R4629:Gpnmb UTSW 6 49051060 missense possibly damaging 0.82
R4782:Gpnmb UTSW 6 49045483 splice site probably null
R4799:Gpnmb UTSW 6 49045483 splice site probably null
R4916:Gpnmb UTSW 6 49051970 missense probably damaging 1.00
R5223:Gpnmb UTSW 6 49056205 missense probably benign 0.01
R5390:Gpnmb UTSW 6 49047841 missense probably damaging 1.00
R5512:Gpnmb UTSW 6 49045464 missense possibly damaging 0.62
R5833:Gpnmb UTSW 6 49044018 missense probably damaging 1.00
R6103:Gpnmb UTSW 6 49042886 missense possibly damaging 0.86
R7211:Gpnmb UTSW 6 49052015 missense possibly damaging 0.82
R7900:Gpnmb UTSW 6 49050466 missense possibly damaging 0.83
R8859:Gpnmb UTSW 6 49052030 splice site probably benign
R9393:Gpnmb UTSW 6 49048062 missense possibly damaging 0.89
Z1176:Gpnmb UTSW 6 49051832 missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- ACCCCTGTCTCATGTCACAG -3'
(R):5'- TTGTGAGTTACTGCATACCTAAGC -3'

Sequencing Primer
(F):5'- GTCTCATGTCACAGCACCC -3'
(R):5'- TTACTGCATACCTAAGCCACATAGTG -3'
Posted On 2022-04-18