Incidental Mutation 'R0884:Gpnmb'
ID 81041
Institutional Source Beutler Lab
Gene Symbol Gpnmb
Ensembl Gene ENSMUSG00000029816
Gene Name glycoprotein (transmembrane) nmb
Synonyms Osteoactivin, DC-HIL, Dchil
MMRRC Submission 039051-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0884 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 49013449-49044413 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 49024847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 293 (V293A)
Ref Sequence ENSEMBL: ENSMUSP00000145376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031840] [ENSMUST00000204260]
AlphaFold Q99P91
Predicted Effect possibly damaging
Transcript: ENSMUST00000031840
AA Change: V293A

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000031840
Gene: ENSMUSG00000029816
AA Change: V293A

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 possibly damaging
Transcript: ENSMUST00000204260
AA Change: V293A

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000145376
Gene: ENSMUSG00000029816
AA Change: V293A

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
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.7%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,790,700 (GRCm39) I844N possibly damaging Het
Acbd3 CGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGA 1: 180,574,624 (GRCm39) probably benign Het
Adam6b A T 12: 113,454,615 (GRCm39) R477S probably damaging Het
Aqp7 T A 4: 41,034,929 (GRCm39) T175S possibly damaging Het
Bclaf1 A T 10: 20,197,822 (GRCm39) R22* probably null Het
Bend7 A T 2: 4,749,055 (GRCm39) K57N probably damaging Het
Bicc1 A C 10: 70,794,677 (GRCm39) V160G probably damaging Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Cep72 A G 13: 74,203,000 (GRCm39) probably null Het
Cobl A G 11: 12,325,908 (GRCm39) I196T possibly damaging Het
Cux1 T G 5: 136,336,689 (GRCm39) D941A probably damaging Het
Cyp2a12 T C 7: 26,731,967 (GRCm39) I236T probably benign Het
Dennd2b A G 7: 109,156,552 (GRCm39) L66P probably damaging Het
Depdc5 T A 5: 33,075,322 (GRCm39) V500D possibly damaging Het
Dhx35 T C 2: 158,673,631 (GRCm39) I354T probably damaging Het
Dnase1l2 A G 17: 24,660,854 (GRCm39) V170A possibly damaging Het
Eif4g3 C A 4: 137,879,087 (GRCm39) N588K possibly damaging Het
Epsti1 A T 14: 78,168,715 (GRCm39) R117S probably damaging Het
Fam53a T C 5: 33,758,160 (GRCm39) E321G probably benign Het
Fat4 C A 3: 39,037,007 (GRCm39) T3553K possibly damaging Het
Fer1l4 T C 2: 155,861,233 (GRCm39) T1978A possibly damaging Het
Gabarapl2 A T 8: 112,669,137 (GRCm39) I32F probably damaging Het
Gje1 G T 10: 14,592,484 (GRCm39) S99R possibly damaging Het
Gosr1 A G 11: 76,620,972 (GRCm39) I239T probably benign Het
Hyi T A 4: 118,217,414 (GRCm39) I62N probably damaging Het
Il4ra A G 7: 125,173,835 (GRCm39) I267V probably damaging Het
Kcnd2 A T 6: 21,216,540 (GRCm39) Q81H probably benign Het
Ksr1 A T 11: 78,912,329 (GRCm39) H675Q possibly damaging Het
Lpcat4 A G 2: 112,073,077 (GRCm39) N208S probably damaging Het
Muc17 T A 5: 137,171,146 (GRCm39) T162S possibly damaging Het
Mup3 T A 4: 62,005,411 (GRCm39) I20F possibly damaging Het
Nebl A C 2: 17,415,929 (GRCm39) S327A probably benign Het
Nfatc4 A C 14: 56,064,101 (GRCm39) D126A probably damaging Het
Nmt2 A T 2: 3,315,822 (GRCm39) R271* probably null Het
Nol7 G A 13: 43,554,091 (GRCm39) V133I probably benign Het
Or1e1c A T 11: 73,265,715 (GRCm39) I47F probably benign Het
Or51ag1 C T 7: 103,156,069 (GRCm39) W28* probably null Het
Pde4d A T 13: 110,087,474 (GRCm39) I670L probably damaging Het
Phlpp1 T A 1: 106,317,395 (GRCm39) probably null Het
Pigz A G 16: 31,760,794 (GRCm39) probably null Het
Pramel21 A G 4: 143,341,754 (GRCm39) D61G probably benign Het
Prrg4 A T 2: 104,669,707 (GRCm39) Y137N probably damaging Het
Rbm28 A T 6: 29,155,153 (GRCm39) S217T possibly damaging Het
Ryr2 T C 13: 11,569,415 (GRCm39) D4963G probably damaging Het
Slc35b2 T A 17: 45,877,751 (GRCm39) F293I probably damaging Het
Slc35f1 A T 10: 52,965,443 (GRCm39) Y286F probably damaging Het
Slc6a18 G T 13: 73,815,156 (GRCm39) A384D probably damaging Het
Syt9 A G 7: 107,035,768 (GRCm39) I262V probably damaging Het
Tln2 C A 9: 67,278,015 (GRCm39) R333L probably damaging Het
Tnrc6b ACAGCAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAGCAG 15: 80,786,756 (GRCm39) probably benign Het
Ttn G A 2: 76,581,410 (GRCm39) T14834I possibly damaging Het
Uggt1 T C 1: 36,214,159 (GRCm39) S177G probably benign Het
Zfp454 A G 11: 50,764,764 (GRCm39) S223P probably benign Het
Zmat4 A G 8: 24,505,143 (GRCm39) T128A 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
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
Predicted Primers PCR Primer
(F):5'- GACCATGTCCCAGAAGAATGACAGG -3'
(R):5'- AAGCCAGCAGGGCAACATAGTATC -3'

Sequencing Primer
(F):5'- GAATGACAGGAACTTGTCTGATG -3'
(R):5'- agcagggcaacatagtATCTCAAG -3'
Posted On 2013-11-07