Mutagenetix > Incidental Mutation

Incidental Mutation 'R5223:Gpnmb'

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

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

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

probably benign
Transcript: ENSMUST00000204260

SMART Domains

Protein: ENSMUSP00000145376
Gene: ENSMUSG00000029816

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

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
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
(F):5'- CTCAAAGTGAGTGCTTCTTGCTTG -3'
(R):5'- TGCACAGCTCACATACATGC -3'

Sequencing Primer
(F):5'- AATAGCTATACTCTCCTGTGATGCTG -3'
(R):5'- CACAGAAGAGTGGGTTCCTGGTC -3'

Posted On

2016-07-22