Incidental Mutation 'R6876:Prodh2'
ID |
536413 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prodh2
|
Ensembl Gene |
ENSMUSG00000036892 |
Gene Name |
proline dehydrogenase (oxidase) 2 |
Synonyms |
MmPOX1, POX1, 2510038B11Rik, 2510028N04Rik |
MMRRC Submission |
044972-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R6876 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
30193047-30212827 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 30205925 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 207
(W207R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116662
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058280]
[ENSMUST00000130839]
[ENSMUST00000131040]
[ENSMUST00000133318]
[ENSMUST00000142575]
|
AlphaFold |
Q8VCZ9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058280
AA Change: W268R
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000062214 Gene: ENSMUSG00000036892 AA Change: W268R
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
46 |
N/A |
INTRINSIC |
low complexity region
|
65 |
79 |
N/A |
INTRINSIC |
Pfam:Pro_dh
|
87 |
440 |
3.4e-69 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122876
|
SMART Domains |
Protein: ENSMUSP00000114278 Gene: ENSMUSG00000036892
Domain | Start | End | E-Value | Type |
Pfam:Pro_dh
|
1 |
82 |
2.2e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130839
|
SMART Domains |
Protein: ENSMUSP00000117480 Gene: ENSMUSG00000036892
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
46 |
N/A |
INTRINSIC |
low complexity region
|
65 |
79 |
N/A |
INTRINSIC |
low complexity region
|
97 |
112 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000131040
AA Change: W207R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116662 Gene: ENSMUSG00000036892 AA Change: W207R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
low complexity region
|
33 |
47 |
N/A |
INTRINSIC |
low complexity region
|
65 |
80 |
N/A |
INTRINSIC |
Pfam:Pro_dh
|
91 |
260 |
5e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133318
|
SMART Domains |
Protein: ENSMUSP00000122546 Gene: ENSMUSG00000036892
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
46 |
N/A |
INTRINSIC |
low complexity region
|
63 |
77 |
N/A |
INTRINSIC |
low complexity region
|
95 |
110 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000142575
AA Change: W254R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000114778 Gene: ENSMUSG00000036892 AA Change: W254R
Domain | Start | End | E-Value | Type |
low complexity region
|
57 |
68 |
N/A |
INTRINSIC |
Pfam:Pro_dh
|
147 |
284 |
6.5e-14 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
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 catalyzes the first step in the catabolism of trans-4-hydroxy-L-proline, an amino acid derivative obtained through food intake and collagen turnover. One of the downstream products of this catabolism is glyoxylate, which in people with disorders of glyoxalate metabolism can lead to an increase in oxalate levels and the formation of calcium-oxalate kidney stones. Therefore, this gene may serve as a therapeutic target against primary hyperoxalurias (PH). This gene is similar to proline dehydrogenase (oxidase) 1, a mitochondrial enzyme that catalyzes the first step in proline catabolism. [provided by RefSeq, Jan 2017]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
T |
C |
5: 77,044,288 (GRCm39) |
T201A |
probably damaging |
Het |
Abca12 |
T |
A |
1: 71,302,667 (GRCm39) |
D2184V |
probably damaging |
Het |
Abcf1 |
C |
T |
17: 36,270,136 (GRCm39) |
D641N |
probably benign |
Het |
Adgrv1 |
C |
A |
13: 81,303,273 (GRCm39) |
|
probably null |
Het |
Aftph |
T |
C |
11: 20,659,744 (GRCm39) |
E693G |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,991,484 (GRCm39) |
D4256G |
probably damaging |
Het |
Arv1 |
A |
G |
8: 125,457,651 (GRCm39) |
K185R |
probably damaging |
Het |
Ces4a |
T |
A |
8: 105,871,624 (GRCm39) |
V258D |
possibly damaging |
Het |
Col6a5 |
T |
C |
9: 105,814,506 (GRCm39) |
D502G |
unknown |
Het |
Diaph1 |
A |
T |
18: 38,029,426 (GRCm39) |
H335Q |
unknown |
Het |
Dtna |
G |
A |
18: 23,744,167 (GRCm39) |
V404I |
probably benign |
Het |
Ephb1 |
T |
C |
9: 101,861,319 (GRCm39) |
D615G |
probably damaging |
Het |
Gimap3 |
A |
T |
6: 48,742,855 (GRCm39) |
I25N |
probably damaging |
Het |
Hao1 |
A |
G |
2: 134,343,069 (GRCm39) |
V274A |
probably benign |
Het |
Hirip3 |
T |
C |
7: 126,463,321 (GRCm39) |
S426P |
probably damaging |
Het |
Igkv4-69 |
T |
C |
6: 69,260,818 (GRCm39) |
D103G |
probably damaging |
Het |
Kdm8 |
T |
C |
7: 125,051,830 (GRCm39) |
V141A |
probably benign |
Het |
Mink1 |
G |
T |
11: 70,498,261 (GRCm39) |
A553S |
probably benign |
Het |
Mpl |
T |
A |
4: 118,314,317 (GRCm39) |
Y60F |
probably damaging |
Het |
Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
Myo5a |
C |
A |
9: 75,067,772 (GRCm39) |
R609S |
probably benign |
Het |
Myo5b |
A |
T |
18: 74,841,026 (GRCm39) |
H969L |
probably benign |
Het |
Or1n2 |
T |
A |
2: 36,797,834 (GRCm39) |
I292N |
probably damaging |
Het |
Or2h2c |
G |
C |
17: 37,422,098 (GRCm39) |
Q259E |
probably damaging |
Het |
Or2y16 |
T |
C |
11: 49,335,068 (GRCm39) |
L130P |
probably damaging |
Het |
Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
Qng1 |
T |
C |
13: 58,532,910 (GRCm39) |
D20G |
probably damaging |
Het |
Rfx6 |
A |
G |
10: 51,596,087 (GRCm39) |
K457E |
probably damaging |
Het |
Sim1 |
A |
G |
10: 50,859,791 (GRCm39) |
E551G |
possibly damaging |
Het |
Soat2 |
T |
C |
15: 102,069,049 (GRCm39) |
F358S |
probably damaging |
Het |
Tes3-ps |
A |
G |
13: 49,647,195 (GRCm39) |
K24E |
probably benign |
Het |
Txndc16 |
A |
G |
14: 45,400,497 (GRCm39) |
F335L |
possibly damaging |
Het |
Unc45b |
T |
C |
11: 82,813,738 (GRCm39) |
Y382H |
probably benign |
Het |
Vmn2r60 |
A |
G |
7: 41,785,087 (GRCm39) |
T100A |
probably null |
Het |
Vmn2r93 |
T |
A |
17: 18,525,450 (GRCm39) |
H369Q |
probably benign |
Het |
Yy1 |
A |
G |
12: 108,772,518 (GRCm39) |
I265V |
probably benign |
Het |
Zfp54 |
A |
T |
17: 21,654,239 (GRCm39) |
K244N |
probably damaging |
Het |
|
Other mutations in Prodh2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01720:Prodh2
|
APN |
7 |
30,210,628 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01949:Prodh2
|
APN |
7 |
30,209,190 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02119:Prodh2
|
APN |
7 |
30,205,929 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02334:Prodh2
|
APN |
7 |
30,205,803 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03061:Prodh2
|
APN |
7 |
30,212,258 (GRCm39) |
nonsense |
probably null |
|
R0831:Prodh2
|
UTSW |
7 |
30,193,649 (GRCm39) |
nonsense |
probably null |
|
R0964:Prodh2
|
UTSW |
7 |
30,205,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R1295:Prodh2
|
UTSW |
7 |
30,193,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R4414:Prodh2
|
UTSW |
7 |
30,205,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R5035:Prodh2
|
UTSW |
7 |
30,205,904 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5461:Prodh2
|
UTSW |
7 |
30,193,948 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5643:Prodh2
|
UTSW |
7 |
30,206,171 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6276:Prodh2
|
UTSW |
7 |
30,206,076 (GRCm39) |
missense |
probably benign |
0.07 |
R7860:Prodh2
|
UTSW |
7 |
30,212,064 (GRCm39) |
splice site |
probably null |
|
R7972:Prodh2
|
UTSW |
7 |
30,210,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R8040:Prodh2
|
UTSW |
7 |
30,205,836 (GRCm39) |
missense |
probably damaging |
1.00 |
X0026:Prodh2
|
UTSW |
7 |
30,193,200 (GRCm39) |
missense |
possibly damaging |
0.83 |
Z1177:Prodh2
|
UTSW |
7 |
30,193,415 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1186:Prodh2
|
UTSW |
7 |
30,206,069 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- TAACACATGGGCATCCTGG -3'
(R):5'- TCCTTGTCCAGATAGGCACC -3'
Sequencing Primer
(F):5'- ATGGGCATCCTGGCTCCC -3'
(R):5'- GTCCAGATAGGCACCTCGCAC -3'
|
Posted On |
2018-10-18 |