Mutagenetix > Incidental Mutation

Incidental Mutation 'R9393:Gpnmb'

710666

Institutional Source

Beutler Lab

Gene Symbol

Gpnmb

Ensembl Gene

ENSMUSG00000029816

Gene Name

glycoprotein (transmembrane) nmb

Synonyms

Osteoactivin, DC-HIL, Dchil

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9393 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49013449-49044413 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49024996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 343 (S343P)

Ref Sequence

ENSEMBL: ENSMUSP00000031840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031840] [ENSMUST00000204260]

AlphaFold

Q99P91

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031840
AA Change: S343P

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031840
Gene: ENSMUSG00000029816
AA Change: S343P

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: S343P

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000145376
Gene: ENSMUSG00000029816
AA Change: S343P

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,616,270 (GRCm39)	S133G	possibly damaging	Het
Agps	A	G	2: 75,735,256 (GRCm39)	E567G	possibly damaging	Het
Ak9	T	C	10: 41,285,068 (GRCm39)	I1381T	unknown	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Arrb1	T	A	7: 99,238,891 (GRCm39)	C150S	probably damaging	Het
Asz1	T	C	6: 18,051,330 (GRCm39)	I450V	probably benign	Het
Atp10b	A	G	11: 43,063,608 (GRCm39)	N181S	probably damaging	Het
Bptf	A	C	11: 106,965,134 (GRCm39)	D1353E	probably benign	Het
Cacna2d1	T	C	5: 16,140,013 (GRCm39)	M1T	probably null	Het
Ccdc106	T	A	7: 5,059,200 (GRCm39)	I6N	possibly damaging	Het
Celf6	A	T	9: 59,510,525 (GRCm39)	Q252L	probably benign	Het
Colgalt2	A	T	1: 152,360,598 (GRCm39)	K212*	probably null	Het
Cryba4	T	C	5: 112,394,632 (GRCm39)	S166G	probably benign	Het
Cyp2w1	A	G	5: 139,342,035 (GRCm39)	E123G	probably benign	Het
Cyp4a10	G	C	4: 115,382,566 (GRCm39)	K285N	probably damaging	Het
Cyth1	G	T	11: 118,074,710 (GRCm39)	T197K	probably benign	Het
Ddhd1	A	G	14: 45,894,685 (GRCm39)	W262R	probably damaging	Het
Dnah8	T	A	17: 30,872,361 (GRCm39)	V450D	possibly damaging	Het
Eml5	C	T	12: 98,842,433 (GRCm39)	V222I	probably benign	Het
Fbxw19	A	G	9: 109,324,873 (GRCm39)	S15P	probably damaging	Het
Fhip2b	G	A	14: 70,831,463 (GRCm39)	Q24*	probably null	Het
Fignl2	C	A	15: 100,951,466 (GRCm39)	R272L	unknown	Het
Gm10842	A	T	11: 105,037,885 (GRCm39)	D56V	unknown	Het
Gmps	T	A	3: 63,900,640 (GRCm39)	N305K	probably benign	Het
Gnai1	A	T	5: 18,565,055 (GRCm39)	L38Q		Het
Golim4	A	T	3: 75,785,464 (GRCm39)	D642E	probably benign	Het
Gp1ba	A	T	11: 70,531,293 (GRCm39)	Q353L	unknown	Het
Hexb	G	A	13: 97,313,336 (GRCm39)	R507*	probably null	Het
Ifitm10	A	T	7: 141,924,704 (GRCm39)	V45D	probably damaging	Het
Khsrp	T	C	17: 57,330,350 (GRCm39)	Y585C	probably damaging	Het
Kif21a	A	T	15: 90,853,981 (GRCm39)	D795E	probably benign	Het
Klkb1	A	T	8: 45,729,392 (GRCm39)	V309E	probably benign	Het
Krtap9-1	C	A	11: 99,764,664 (GRCm39)	C133*	probably null	Het
Krtcap2	T	C	3: 89,153,578 (GRCm39)		probably benign	Het
Lilra5	T	C	7: 4,240,758 (GRCm39)	M1T	probably null	Het
Magi1	G	A	6: 93,659,890 (GRCm39)	T1019I	probably benign	Het
Mdn1	T	A	4: 32,713,825 (GRCm39)	H1967Q		Het
Mgat4f	A	G	1: 134,318,596 (GRCm39)	D456G	probably benign	Het
Mroh2b	A	T	15: 4,980,666 (GRCm39)	T1412S	probably benign	Het
Myh13	A	T	11: 67,242,894 (GRCm39)	M936L	probably benign	Het
Nalf2	C	T	X: 98,889,097 (GRCm39)	R321W	probably damaging	Het
Ncapd3	A	G	9: 26,962,682 (GRCm39)	T373A	possibly damaging	Het
Noc2l	T	C	4: 156,320,784 (GRCm39)		probably null	Het
Nrg4	C	T	9: 55,149,420 (GRCm39)	S59N	probably benign	Het
Nrip1	A	G	16: 76,091,353 (GRCm39)	V68A	probably benign	Het
Or11g24	T	C	14: 50,662,255 (GRCm39)	V93A	probably benign	Het
Or9k2	T	C	10: 129,999,016 (GRCm39)	T60A	probably benign	Het
Pcdhga6	G	T	18: 37,840,212 (GRCm39)		probably benign	Het
Phf20l1	A	G	15: 66,475,955 (GRCm39)	N196S	probably damaging	Het
Ppp4r4	T	A	12: 103,571,296 (GRCm39)	Y787*	probably null	Het
Psma8	G	A	18: 14,839,298 (GRCm39)	R4Q	probably null	Het
Reg4	A	G	3: 98,137,168 (GRCm39)	K46E	probably benign	Het
Rnf14	T	A	18: 38,442,680 (GRCm39)	M327K	possibly damaging	Het
Rtn1	A	T	12: 72,263,586 (GRCm39)	Y753*	probably null	Het
Slc26a11	A	G	11: 119,259,627 (GRCm39)	R275G	probably benign	Het
Stard9	A	G	2: 120,518,656 (GRCm39)	T527A	possibly damaging	Het
Stk26	C	T	X: 49,930,618 (GRCm39)		probably benign	Het
Tas1r1	C	T	4: 152,116,413 (GRCm39)	C407Y	probably damaging	Het
Tcstv1b	A	T	13: 120,634,958 (GRCm39)	Y80F	probably benign	Het
Tenm3	A	G	8: 49,127,559 (GRCm39)	S40P	probably damaging	Het
Tespa1	T	A	10: 130,183,066 (GRCm39)	S4T	probably damaging	Het
Tlr11	A	G	14: 50,599,547 (GRCm39)	N511S	probably benign	Het
Tmprss15	A	G	16: 78,754,211 (GRCm39)	I1014T	probably benign	Het
Tpte	T	A	8: 22,774,990 (GRCm39)	M20K	probably benign	Het
Ttn	A	G	2: 76,612,390 (GRCm39)	V17199A	possibly damaging	Het
Tubgcp3	A	G	8: 12,703,411 (GRCm39)	Y305H	probably damaging	Het
Ubr4	T	A	4: 139,212,613 (GRCm39)	V5081E	unknown	Het
Unkl	T	C	17: 25,448,392 (GRCm39)	S322P	probably damaging	Het
Uqcc6	A	G	10: 82,458,475 (GRCm39)	S59P	unknown	Het
Vav3	T	A	3: 109,485,682 (GRCm39)		probably null	Het
Vmn1r76	A	G	7: 11,664,765 (GRCm39)	S150P	probably benign	Het
Xpot	A	G	10: 121,445,600 (GRCm39)		probably null	Het
Xylt1	A	G	7: 117,242,906 (GRCm39)	I650V	probably benign	Het
Zan	C	A	5: 137,403,682 (GRCm39)	A3955S	unknown	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
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
Z1176:Gpnmb	UTSW	6	49,028,766 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- TCCTACAAGTGGAACTTTGGGG -3'
(R):5'- GGAATAAATTTGGGCAATGCAAACC -3'

Sequencing Primer
(F):5'- GACAACACTGGCCTGTTTG -3'
(R):5'- ACAAGTTTGAGGCTACCCTAG -3'

Posted On

2022-04-18