Incidental Mutation 'R5012:Steap2'
| ID |
390566 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Steap2
|
| Ensembl Gene |
ENSMUSG00000015653 |
| Gene Name |
six transmembrane epithelial antigen of prostate 2 |
| Synonyms |
4921538B17Rik |
| MMRRC Submission |
042603-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5012 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
5714829-5744578 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 5727784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 184
(L184V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111087
(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: L184V
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000015797
Gene: ENSMUSG00000015653
AA Change: L184V
| 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: L184V
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000111084
Gene: ENSMUSG00000015653
AA Change: L184V
| 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: L184V
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000111085
Gene: ENSMUSG00000015653
AA Change: L184V
| 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: L184V
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000111086
Gene: ENSMUSG00000015653
AA Change: L184V
| 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 |
possibly damaging
Transcript: ENSMUST00000115427
AA Change: L184V
PolyPhen 2
Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000111087
Gene: ENSMUSG00000015653
AA Change: L184V
| 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: L184V
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000116910
Gene: ENSMUSG00000015653
AA Change: L184V
| 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 |
noncoding transcript
Transcript: ENSMUST00000149412
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150238
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164219
AA Change: L184V
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000132501
Gene: ENSMUSG00000015653
AA Change: L184V
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 90.9%
|
| Validation Efficiency |
98% (45/46) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
C |
A |
19: 3,767,217 (GRCm39) |
T268K |
possibly damaging |
Het |
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Acsl1 |
A |
G |
8: 46,974,468 (GRCm39) |
S314G |
probably benign |
Het |
| Aftph |
G |
A |
11: 20,648,264 (GRCm39) |
|
probably benign |
Het |
| Ankrd34c |
T |
G |
9: 89,611,709 (GRCm39) |
I211L |
probably benign |
Het |
| Anks1b |
A |
G |
10: 90,194,999 (GRCm39) |
T560A |
probably benign |
Het |
| Carmil1 |
G |
T |
13: 24,208,403 (GRCm39) |
S1247R |
possibly damaging |
Het |
| Elf1 |
T |
A |
14: 79,808,174 (GRCm39) |
Y172N |
probably damaging |
Het |
| Emx1 |
C |
T |
6: 85,180,955 (GRCm39) |
P224L |
probably benign |
Het |
| Fastkd2 |
A |
T |
1: 63,789,055 (GRCm39) |
|
probably benign |
Het |
| Fbxw27 |
C |
A |
9: 109,602,271 (GRCm39) |
C234F |
probably benign |
Het |
| Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
| Igkv6-23 |
C |
A |
6: 70,237,529 (GRCm39) |
A71S |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,226,143 (GRCm39) |
L2510P |
probably damaging |
Het |
| Itgal |
T |
C |
7: 126,898,802 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
C |
A |
5: 25,504,710 (GRCm39) |
G122* |
probably null |
Het |
| Lamtor2 |
C |
T |
3: 88,460,163 (GRCm39) |
R3H |
possibly damaging |
Het |
| Magi2 |
A |
T |
5: 20,670,618 (GRCm39) |
T321S |
probably damaging |
Het |
| Mau2 |
A |
G |
8: 70,484,107 (GRCm39) |
|
probably null |
Het |
| Mcm7 |
A |
T |
5: 138,167,609 (GRCm39) |
|
probably null |
Het |
| Mitd1 |
A |
T |
1: 37,924,374 (GRCm39) |
C59S |
probably benign |
Het |
| Muc6 |
A |
G |
7: 141,216,570 (GRCm39) |
L2636P |
possibly damaging |
Het |
| Paip1 |
A |
G |
13: 119,584,338 (GRCm39) |
M233V |
probably benign |
Het |
| Pcdhb11 |
C |
A |
18: 37,556,029 (GRCm39) |
T453N |
possibly damaging |
Het |
| Plcb1 |
A |
G |
2: 135,175,320 (GRCm39) |
N545S |
probably null |
Het |
| Prl8a9 |
A |
T |
13: 27,746,594 (GRCm39) |
|
probably null |
Het |
| Psmc2 |
A |
G |
5: 22,007,563 (GRCm39) |
T308A |
probably benign |
Het |
| Rassf2 |
C |
A |
2: 131,851,610 (GRCm39) |
R44L |
probably damaging |
Het |
| Scn11a |
A |
T |
9: 119,609,944 (GRCm39) |
M968K |
probably benign |
Het |
| Septin4 |
T |
A |
11: 87,475,230 (GRCm39) |
S146T |
possibly damaging |
Het |
| Slc41a2 |
A |
G |
10: 83,137,127 (GRCm39) |
I260T |
probably benign |
Het |
| Ttll5 |
G |
A |
12: 85,973,618 (GRCm39) |
E776K |
possibly damaging |
Het |
| Vipr1 |
A |
T |
9: 121,487,111 (GRCm39) |
|
probably null |
Het |
| Yars2 |
T |
C |
16: 16,121,448 (GRCm39) |
S201P |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,022,864 (GRCm39) |
I194K |
probably benign |
Het |
| Zfp988 |
A |
G |
4: 147,416,060 (GRCm39) |
I165V |
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 |
|
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 |
|
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'- CAAGGTTTTGTTCACAATCTCAATGG -3'
(R):5'- ACTTACATCATACAAAGTCAATAGGC -3'
Sequencing Primer
(F):5'- CTTGTAAAAGTCACTCTGCTGG -3'
(R):5'- GCAATGCCCCGCAGATTCAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation