Mutagenetix > Incidental Mutation

Incidental Mutation 'R9040:Steap2'

687657

Institutional Source

Beutler Lab

Gene Symbol

Steap2

Ensembl Gene

ENSMUSG00000015653

Gene Name

six transmembrane epithelial antigen of prostate 2

Synonyms

4921538B17Rik

MMRRC Submission

068867-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9040 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5714829-5744578 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5732722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 101 (W101R)

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: W101R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000015797
Gene: ENSMUSG00000015653
AA Change: W101R

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: W101R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111084
Gene: ENSMUSG00000015653
AA Change: W101R

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: W101R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111085
Gene: ENSMUSG00000015653
AA Change: W101R

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: W101R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111086
Gene: ENSMUSG00000015653
AA Change: W101R

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
AA Change: W101R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111087
Gene: ENSMUSG00000015653
AA Change: W101R

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
AA Change: W101R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116910
Gene: ENSMUSG00000015653
AA Change: W101R

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: W101R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000132501
Gene: ENSMUSG00000015653
AA Change: W101R

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

Meta Mutation Damage Score

0.0698

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (59/59)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	A	C	8: 44,103,363 (GRCm39)		probably benign	Het
Agap1	T	C	1: 89,671,466 (GRCm39)	V391A	probably damaging	Het
Apba2	C	T	7: 64,393,072 (GRCm39)	A531V	possibly damaging	Het
Apcdd1	T	A	18: 63,070,414 (GRCm39)	V227E	probably damaging	Het
Bbs7	A	G	3: 36,629,987 (GRCm39)	V564A	probably benign	Het
Ccdc154	T	A	17: 25,382,793 (GRCm39)	M141K	possibly damaging	Het
Cd200l1	C	A	16: 45,264,509 (GRCm39)	K16N	possibly damaging	Het
Cdk9	C	A	2: 32,597,999 (GRCm39)	Q352H	probably benign	Het
Chsy3	T	C	18: 59,542,760 (GRCm39)	Y633H	probably damaging	Het
Cpz	T	A	5: 35,672,835 (GRCm39)	Y195F	possibly damaging	Het
Cyp3a16	T	C	5: 145,392,922 (GRCm39)	R128G	possibly damaging	Het
Dhodh	A	T	8: 110,328,781 (GRCm39)		probably benign	Het
Dlec1	G	A	9: 118,950,985 (GRCm39)	S517N	probably benign	Het
Dock7	A	T	4: 98,889,364 (GRCm39)	L175*	probably null	Het
Duxf1	A	G	10: 58,059,608 (GRCm39)	I382T	unknown	Het
Ect2l	A	T	10: 18,077,098 (GRCm39)	S2T	possibly damaging	Het
Epn3	G	A	11: 94,382,749 (GRCm39)	S445F	possibly damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gm7298	T	C	6: 121,764,438 (GRCm39)	F1439S	probably benign	Het
Hormad1	A	T	3: 95,487,470 (GRCm39)	E289D	possibly damaging	Het
Idua	T	C	5: 108,828,929 (GRCm39)	L391P	probably damaging	Het
Kank2	G	T	9: 21,706,115 (GRCm39)	A301E	probably damaging	Het
Kcnk10	C	T	12: 98,401,098 (GRCm39)	E526K	probably benign	Het
Kif16b	T	C	2: 142,691,798 (GRCm39)	I229V	probably benign	Het
Krt25	T	C	11: 99,207,379 (GRCm39)	Y400C	probably benign	Het
Krt26	C	T	11: 99,222,093 (GRCm39)	G405S	probably benign	Het
Krt42	G	A	11: 100,157,859 (GRCm39)	R202W	probably damaging	Het
Lbr	A	G	1: 181,644,910 (GRCm39)	V547A	probably damaging	Het
Lrrc8b	T	C	5: 105,628,161 (GRCm39)	L169P	probably benign	Het
Midn	T	A	10: 79,989,918 (GRCm39)	V262D	probably damaging	Het
Mroh9	T	A	1: 162,890,069 (GRCm39)	I223F	probably benign	Het
Mtor	C	A	4: 148,548,205 (GRCm39)	A490E	probably benign	Het
Muc16	G	A	9: 18,556,082 (GRCm39)	Q3404*	probably null	Het
Myo5a	A	T	9: 75,081,341 (GRCm39)	E975D	probably benign	Het
Ncoa7	T	C	10: 30,530,389 (GRCm39)	Y764C	probably benign	Het
Nedd4l	T	C	18: 65,342,734 (GRCm39)	L769P	probably damaging	Het
Or11g25	G	T	14: 50,722,995 (GRCm39)	G27W	probably benign	Het
Pank4	C	G	4: 155,064,559 (GRCm39)	T706R	probably benign	Het
Plxnc1	G	T	10: 94,779,379 (GRCm39)	C354*	probably null	Het
Prkca	A	G	11: 107,905,186 (GRCm39)	I184T	possibly damaging	Het
Prune2	T	C	19: 17,097,991 (GRCm39)	V1165A	probably damaging	Het
Psmc6	T	A	14: 45,581,111 (GRCm39)	D302E	probably benign	Het
Rab11fip5	A	G	6: 85,324,915 (GRCm39)	L464P	probably damaging	Het
Reg1	A	T	6: 78,403,268 (GRCm39)		probably benign	Het
Rhbdf1	T	C	11: 32,163,063 (GRCm39)	T438A	probably benign	Het
Ryr2	T	C	13: 11,609,672 (GRCm39)	R4385G	probably damaging	Het
Ryr3	A	G	2: 112,784,731 (GRCm39)	Y237H	probably damaging	Het
Scai	G	T	2: 38,965,164 (GRCm39)	T560K	probably benign	Het
Scn1a	A	G	2: 66,148,245 (GRCm39)	L80P	probably damaging	Het
Sez6	T	C	11: 77,864,762 (GRCm39)	L574P	probably benign	Het
Slc41a1	T	G	1: 131,768,623 (GRCm39)	S194A	probably damaging	Het
Slc6a7	T	C	18: 61,134,360 (GRCm39)		probably benign	Het
Slit3	A	G	11: 35,594,136 (GRCm39)	H1442R	probably damaging	Het
Sra1	A	T	18: 36,808,790 (GRCm39)	L281Q	probably damaging	Het
Tfap2b	C	T	1: 19,304,314 (GRCm39)	R375W	probably damaging	Het
Tfr2	A	T	5: 137,572,967 (GRCm39)	T233S	probably benign	Het
Traf3ip1	T	A	1: 91,429,092 (GRCm39)	H286Q	probably damaging	Het
Ubash3a	A	G	17: 31,457,960 (GRCm39)		probably benign	Het
Vmn2r85	A	G	10: 130,254,311 (GRCm39)	I791T	probably damaging	Het
Zkscan4	T	C	13: 21,668,229 (GRCm39)	C256R	probably benign	Het
Zscan4-ps3	A	T	7: 11,346,638 (GRCm39)	N225Y	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
R9020:Steap2	UTSW	5	5,723,480 (GRCm39)	missense	probably benign	0.00
R9113:Steap2	UTSW	5	5,727,475 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAATCAAAGGCTGCATACCTGG -3'
(R):5'- AAGTGGGGATTTTGCCAAGTC -3'

Sequencing Primer
(F):5'- CTGGCATCCTTGGGACCTAG -3'
(R):5'- GGGATTTTGCCAAGTCTCTGACC -3'

Posted On

2021-11-19