Mutagenetix > Incidental Mutation

Incidental Mutation 'R4629:Gpnmb'

349032

Institutional Source

Beutler Lab

Gene Symbol

Gpnmb

Ensembl Gene

ENSMUSG00000029816

Gene Name

glycoprotein (transmembrane) nmb

Synonyms

Osteoactivin, DC-HIL, Dchil

MMRRC Submission

041894-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4629 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49013449-49044413 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49027994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 401 (D401G)

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: D401G

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031840
Gene: ENSMUSG00000029816
AA Change: D401G

Domain	Start	End	E-Value	Type
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: D401G

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000145376
Gene: ENSMUSG00000029816
AA Change: D401G

Domain	Start	End	E-Value	Type
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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921528I07Rik	T	C	9: 114,108,419 (GRCm39)		noncoding transcript	Het
Abca6	T	C	11: 110,121,375 (GRCm39)		probably null	Het
Adam22	A	G	5: 8,282,663 (GRCm39)	S111P	possibly damaging	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Alg10b	C	T	15: 90,111,948 (GRCm39)	A264V	probably benign	Het
Angpt1	T	A	15: 42,301,796 (GRCm39)	Y404F	probably benign	Het
Apol7c	A	G	15: 77,410,595 (GRCm39)	F117S	probably damaging	Het
Asic5	T	A	3: 81,913,811 (GRCm39)	Y162N	probably damaging	Het
Cacna2d2	A	T	9: 107,404,521 (GRCm39)	E1104V	probably damaging	Het
Cad	G	A	5: 31,227,639 (GRCm39)	V1263I	probably damaging	Het
Cdc20	T	C	4: 118,290,761 (GRCm39)	E413G	probably damaging	Het
Cfap46	A	T	7: 139,260,843 (GRCm39)	L85Q	probably damaging	Het
Cnot6l	A	G	5: 96,225,070 (GRCm39)	V541A	probably benign	Het
Cubn	T	A	2: 13,318,790 (GRCm39)		probably null	Het
Cx3cr1	T	C	9: 119,880,730 (GRCm39)	N224S	probably damaging	Het
Fam98c	T	C	7: 28,854,693 (GRCm39)	T49A	possibly damaging	Het
Fez2	C	T	17: 78,710,183 (GRCm39)	S202N	probably benign	Het
Fras1	A	G	5: 96,924,593 (GRCm39)	N3678S	probably benign	Het
Glyr1	A	G	16: 4,854,907 (GRCm39)	V57A	possibly damaging	Het
Gm5617	T	A	9: 48,407,187 (GRCm39)	L107Q	possibly damaging	Het
Gtpbp6	C	A	5: 110,254,774 (GRCm39)	V100L	possibly damaging	Het
Gucy1a1	A	G	3: 82,004,931 (GRCm39)	V618A	probably damaging	Het
H6pd	A	T	4: 150,080,803 (GRCm39)	M14K	probably benign	Het
Hectd4	A	G	5: 121,435,266 (GRCm39)	M993V	probably benign	Het
Kat14	A	G	2: 144,246,140 (GRCm39)		probably benign	Het
Kctd21	A	G	7: 96,996,782 (GRCm39)	D85G	probably damaging	Het
Kera	A	G	10: 97,445,493 (GRCm39)	N284S	probably benign	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lama1	A	G	17: 68,112,355 (GRCm39)		probably null	Het
Lgr6	T	C	1: 135,032,670 (GRCm39)	Y70C	probably damaging	Het
Lipg	T	A	18: 75,081,107 (GRCm39)	K325*	probably null	Het
Lrrc43	T	C	5: 123,637,583 (GRCm39)	L250P	probably damaging	Het
Lyz1	C	T	10: 117,127,041 (GRCm39)	R65H	probably benign	Het
Marchf10	T	A	11: 105,280,664 (GRCm39)	L540F	probably benign	Het
Maz	G	T	7: 126,624,519 (GRCm39)	H334N	possibly damaging	Het
Myh1	A	G	11: 67,100,119 (GRCm39)	K646R	probably benign	Het
Nf2	A	T	11: 4,798,915 (GRCm39)	V24E	probably damaging	Het
Nup210l	T	C	3: 90,075,182 (GRCm39)	S831P	probably benign	Het
Nup210l	C	T	3: 90,098,181 (GRCm39)	R1378*	probably null	Het
Or13a17	T	A	7: 140,271,291 (GRCm39)	S158T	probably benign	Het
Orc5	G	T	5: 22,753,003 (GRCm39)	F10L	probably benign	Het
Palb2	A	C	7: 121,727,189 (GRCm39)	I227S	possibly damaging	Het
Pate3	A	T	9: 35,557,453 (GRCm39)	C68S	probably damaging	Het
Pcdha12	T	A	18: 37,154,926 (GRCm39)	N548K	probably damaging	Het
Prdm10	C	T	9: 31,248,612 (GRCm39)	Q345*	probably null	Het
Ptx4	A	T	17: 25,341,737 (GRCm39)	N71Y	probably damaging	Het
Rab42	C	T	4: 132,030,548 (GRCm39)	R34Q	probably benign	Het
Rergl	A	G	6: 139,478,850 (GRCm39)	V8A	probably damaging	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Rpia	A	G	6: 70,743,578 (GRCm39)	M291T	possibly damaging	Het
Rplp0	G	A	5: 115,699,482 (GRCm39)		probably null	Het
Rrp12	A	T	19: 41,871,955 (GRCm39)	I443N	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Saxo1	T	C	4: 86,406,064 (GRCm39)	Y45C	probably damaging	Het
Sec24a	A	T	11: 51,612,640 (GRCm39)		probably null	Het
Setdb2	A	G	14: 59,646,808 (GRCm39)	V585A	probably benign	Het
Sik1	T	C	17: 32,068,581 (GRCm39)	E347G	probably benign	Het
Srbd1	T	C	17: 86,428,100 (GRCm39)	T378A	probably damaging	Het
Tacr1	A	G	6: 82,380,861 (GRCm39)	T91A	probably benign	Het
Tas2r135	T	A	6: 42,383,160 (GRCm39)	M233K	probably benign	Het
Tfg	A	T	16: 56,533,039 (GRCm39)	M40K	probably damaging	Het
Tmem35b	C	T	4: 127,022,796 (GRCm39)	P133S	probably benign	Het
Tmtc2	A	T	10: 105,139,511 (GRCm39)	S672T	probably benign	Het
Trpv3	A	T	11: 73,172,615 (GRCm39)	K253N	probably damaging	Het
Ube2c	A	G	2: 164,614,093 (GRCm39)	N143S	possibly damaging	Het
Unc13a	A	G	8: 72,106,097 (GRCm39)	M669T	possibly damaging	Het
Vmn1r61	T	A	7: 5,614,249 (GRCm39)	I22F	probably benign	Het
Vmn2r26	A	T	6: 124,038,150 (GRCm39)	Q575L	possibly damaging	Het
Vmn2r81	A	T	10: 79,103,276 (GRCm39)	E156D	probably damaging	Het
Vwa3a	T	A	7: 120,392,598 (GRCm39)	N812K	probably benign	Het
Wasl	T	C	6: 24,637,680 (GRCm39)	R71G	probably damaging	Het
Wdfy4	A	T	14: 32,824,515 (GRCm39)	N1301K	probably damaging	Het
Zfp827	G	A	8: 79,787,011 (GRCm39)	R59Q	probably damaging	Het
Zfp87	A	G	13: 74,520,512 (GRCm39)	C189R	probably damaging	Het

Other mutations in Gpnmb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CATGGATTGCTGTCCTGGAG -3'
(R):5'- CCTATACACAGCTCATCTGAGG -3'

Sequencing Primer
(F):5'- CTGGTGTCTGAAAAGGAGCACTTC -3'
(R):5'- CATCTGAGGTTTCTAATACTTAGGCG -3'

Posted On

2015-10-08