Mutagenetix > Incidental Mutation

Incidental Mutation 'R9020:Steap2'

686652

Institutional Source

Beutler Lab

Gene Symbol

Steap2

Ensembl Gene

ENSMUSG00000015653

Gene Name

six transmembrane epithelial antigen of prostate 2

Synonyms

4921538B17Rik

MMRRC Submission

068850-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9020 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5714829-5744578 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5723480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 467 (S467G)

Ref Sequence

ENSEMBL: ENSMUSP00000015797 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015797] [ENSMUST00000115424] [ENSMUST00000115425] [ENSMUST00000115426] [ENSMUST00000115427] [ENSMUST00000148333] [ENSMUST00000164219]

AlphaFold

Q8BWB6

Predicted Effect

probably benign
Transcript: ENSMUST00000015797
AA Change: S467G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000015797
Gene: ENSMUSG00000015653
AA Change: S467G

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	31	118	8.9e-19	PFAM
transmembrane domain	209	231	N/A	INTRINSIC
Pfam:Ferric_reduct	258	405	2.8e-16	PFAM
transmembrane domain	431	453	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115424
AA Change: S467G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000111084
Gene: ENSMUSG00000015653
AA Change: S467G

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	31	118	4e-18	PFAM
transmembrane domain	209	231	N/A	INTRINSIC
Pfam:Ferric_reduct	258	406	1.5e-22	PFAM
transmembrane domain	431	453	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115425
AA Change: S467G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000111085
Gene: ENSMUSG00000015653
AA Change: S467G

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	31	118	4e-18	PFAM
transmembrane domain	209	231	N/A	INTRINSIC
Pfam:Ferric_reduct	258	406	1.5e-22	PFAM
transmembrane domain	431	453	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115426
AA Change: S467G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000111086
Gene: ENSMUSG00000015653
AA Change: S467G

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	31	118	4e-18	PFAM
transmembrane domain	209	231	N/A	INTRINSIC
Pfam:Ferric_reduct	258	406	1.5e-22	PFAM
transmembrane domain	431	453	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115427

SMART Domains

Protein: ENSMUSP00000111087
Gene: ENSMUSG00000015653

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	31	118	2.3e-17	PFAM
transmembrane domain	209	231	N/A	INTRINSIC
Pfam:Ferric_reduct	258	401	1.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148333

SMART Domains

Protein: ENSMUSP00000116910
Gene: ENSMUSG00000015653

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	31	118	8.3e-18	PFAM
transmembrane domain	209	231	N/A	INTRINSIC
Pfam:Ferric_reduct	258	406	2.7e-22	PFAM
transmembrane domain	431	453	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164219
AA Change: S467G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000132501
Gene: ENSMUSG00000015653
AA Change: S467G

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	31	118	4e-18	PFAM
transmembrane domain	209	231	N/A	INTRINSIC
Pfam:Ferric_reduct	258	406	1.5e-22	PFAM
transmembrane domain	431	453	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (58/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the STEAP family and encodes a multi-pass membrane protein that localizes to the Golgi complex, the plasma membrane, and the vesicular tubular structures in the cytosol. A highly similar protein in mouse has both ferrireductase and cupric reductase activity, and stimulates the cellular uptake of both iron and copper in vitro. Increased transcriptional expression of the human gene is associated with prostate cancer progression. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	A	G	4: 106,605,615 (GRCm39)	S586P	probably damaging	Het
Adora3	T	A	3: 105,815,141 (GRCm39)	I297N	probably damaging	Het
Adrb3	A	T	8: 27,717,947 (GRCm39)	F167L	probably damaging	Het
Apob	A	G	12: 8,063,999 (GRCm39)	Y3955C	probably damaging	Het
Atp2a1	T	C	7: 126,046,135 (GRCm39)	D963G	probably benign	Het
Btbd10	T	C	7: 112,951,057 (GRCm39)	N11S	possibly damaging	Het
Casr	A	G	16: 36,315,611 (GRCm39)	S820P	probably damaging	Het
Ccdc82	C	T	9: 13,281,915 (GRCm39)	R447C	probably damaging	Het
Cfap44	T	A	16: 44,257,522 (GRCm39)	V1019E	probably damaging	Het
Cfap65	T	C	1: 74,959,552 (GRCm39)	E866G	probably damaging	Het
Chd4	T	A	6: 125,084,469 (GRCm39)	D713E	probably damaging	Het
Ctdsp1	T	C	1: 74,434,676 (GRCm39)	F240S	possibly damaging	Het
Cyp26b1	C	T	6: 84,552,056 (GRCm39)	V361I	probably benign	Het
Dmbt1	T	A	7: 130,712,787 (GRCm39)	I1597N	possibly damaging	Het
Dnajc25	C	A	4: 59,003,470 (GRCm39)	Y80*	probably null	Het
Fbxo17	A	T	7: 28,436,782 (GRCm39)	N246Y	possibly damaging	Het
Filip1l	A	G	16: 57,391,058 (GRCm39)	T549A	probably benign	Het
Gm9758	A	C	5: 14,964,739 (GRCm39)	N35K		Het
Gtf2i	T	C	5: 134,275,415 (GRCm39)	T707A	probably benign	Het
Ifnk	T	C	4: 35,152,573 (GRCm39)	V167A	probably damaging	Het
Iqch	T	C	9: 63,432,526 (GRCm39)	M290V	probably benign	Het
Irx1	A	T	13: 72,111,548 (GRCm39)	Y20*	probably null	Het
Jade2	T	A	11: 51,708,454 (GRCm39)	Q572L	probably benign	Het
Kcne4	T	A	1: 78,795,425 (GRCm39)	H24Q	probably benign	Het
Kcnq5	T	C	1: 21,539,463 (GRCm39)		probably benign	Het
Kcnt2	T	A	1: 140,512,049 (GRCm39)	V1068E	probably benign	Het
Klk1b27	T	A	7: 43,705,118 (GRCm39)	V95D	probably damaging	Het
Lins1	A	G	7: 66,357,961 (GRCm39)	D32G	probably damaging	Het
Mavs	A	G	2: 131,088,594 (GRCm39)	E466G	possibly damaging	Het
Mipep	T	A	14: 61,068,677 (GRCm39)	L483*	probably null	Het
Muc16	G	GAATGGCTTTCTT	9: 18,550,015 (GRCm39)		probably benign	Het
Myo1a	C	A	10: 127,549,992 (GRCm39)	Q491K	probably benign	Het
Nle1	C	G	11: 82,797,275 (GRCm39)	E146Q	probably benign	Het
Nphp3	T	C	9: 103,909,150 (GRCm39)	Y787H	probably benign	Het
Pcdh15	A	G	10: 74,481,443 (GRCm39)	S263G	probably benign	Het
Pcdhb8	T	G	18: 37,489,837 (GRCm39)	I505S	probably damaging	Het
Phtf1	C	G	3: 103,898,694 (GRCm39)	S339*	probably null	Het
Pip5k1b	T	A	19: 24,327,585 (GRCm39)	I424F	probably benign	Het
Plxna4	T	A	6: 32,211,497 (GRCm39)	T681S	possibly damaging	Het
Prdm1	A	G	10: 44,316,036 (GRCm39)	L700P	probably damaging	Het
Prtg	C	T	9: 72,799,277 (GRCm39)	T769I	probably damaging	Het
Rasgrf2	A	G	13: 92,165,146 (GRCm39)	V340A	possibly damaging	Het
Ros1	T	A	10: 52,031,023 (GRCm39)	E548D	probably benign	Het
Rsph10b	G	A	5: 143,922,283 (GRCm39)	R823Q	probably benign	Het
Scgb1b3	A	G	7: 31,075,276 (GRCm39)	E42G	probably damaging	Het
Scyl2	T	C	10: 89,488,858 (GRCm39)	N486D	probably damaging	Het
Sdr9c7	T	A	10: 127,745,659 (GRCm39)	I257N	possibly damaging	Het
Serpinb9b	A	T	13: 33,223,887 (GRCm39)	I360F	probably damaging	Het
Slc15a5	T	A	6: 138,032,704 (GRCm39)	I217F	probably benign	Het
Sycp1	T	C	3: 102,783,653 (GRCm39)	K607R	probably benign	Het
Tek	C	G	4: 94,708,339 (GRCm39)	P350R	probably benign	Het
Tet3	T	C	6: 83,381,418 (GRCm39)	D250G	probably damaging	Het
Trip11	A	G	12: 101,850,770 (GRCm39)	V1098A	possibly damaging	Het
Tsc2	G	T	17: 24,845,691 (GRCm39)	T209K	probably damaging	Het
Ttc6	A	G	12: 57,752,366 (GRCm39)	Y1424C	probably damaging	Het
Uchl3	A	T	14: 101,903,986 (GRCm39)	K74N	probably damaging	Het
Usp10	T	G	8: 120,667,904 (GRCm39)	S68R	probably benign	Het
Wwp1	T	C	4: 19,650,282 (GRCm39)	I295V	probably benign	Het

Other mutations in Steap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02052:Steap2	APN	5	5,723,586 (GRCm39)	missense	probably damaging	0.99
IGL02272:Steap2	APN	5	5,727,612 (GRCm39)	missense	probably benign	0.10
IGL02680:Steap2	APN	5	5,723,474 (GRCm39)	missense	probably benign	0.00
R0267:Steap2	UTSW	5	5,723,561 (GRCm39)	missense	probably benign	0.00
R1670:Steap2	UTSW	5	5,727,393 (GRCm39)	missense	possibly damaging	0.80
R2175:Steap2	UTSW	5	5,723,501 (GRCm39)	missense	probably damaging	1.00
R2188:Steap2	UTSW	5	5,723,643 (GRCm39)	nonsense	probably null
R2374:Steap2	UTSW	5	5,725,845 (GRCm39)	missense	probably damaging	0.99
R4902:Steap2	UTSW	5	5,725,866 (GRCm39)	missense	possibly damaging	0.91
R4941:Steap2	UTSW	5	5,727,651 (GRCm39)	missense	probably damaging	1.00
R5012:Steap2	UTSW	5	5,727,784 (GRCm39)	missense	possibly damaging	0.48
R5555:Steap2	UTSW	5	5,727,544 (GRCm39)	missense	possibly damaging	0.89
R5571:Steap2	UTSW	5	5,725,912 (GRCm39)	missense	probably damaging	1.00
R5666:Steap2	UTSW	5	5,723,681 (GRCm39)	missense	probably benign	0.00
R5670:Steap2	UTSW	5	5,723,681 (GRCm39)	missense	probably benign	0.00
R5677:Steap2	UTSW	5	5,727,497 (GRCm39)	nonsense	probably null
R6101:Steap2	UTSW	5	5,725,891 (GRCm39)	missense	possibly damaging	0.71
R6105:Steap2	UTSW	5	5,725,891 (GRCm39)	missense	possibly damaging	0.71
R6190:Steap2	UTSW	5	5,725,881 (GRCm39)	missense	probably damaging	1.00
R7172:Steap2	UTSW	5	5,732,896 (GRCm39)	missense	possibly damaging	0.52
R7576:Steap2	UTSW	5	5,727,406 (GRCm39)	missense	probably benign	0.01
R7706:Steap2	UTSW	5	5,732,967 (GRCm39)	missense	possibly damaging	0.95
R8747:Steap2	UTSW	5	5,723,539 (GRCm39)	missense	probably benign	0.36
R9040:Steap2	UTSW	5	5,732,722 (GRCm39)	missense	probably benign
R9113:Steap2	UTSW	5	5,727,475 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGTTTCAGACTGCAGGAC -3'
(R):5'- AAGTCTACGCTTGGCTACGTC -3'

Sequencing Primer
(F):5'- GGACTGCCAATCAACAGCC -3'
(R):5'- ACCTTCCACGTGTTAATTTACGGATG -3'

Posted On

2021-11-19