Incidental Mutation 'R5035:Prodh2'
| ID |
389498 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prodh2
|
| Ensembl Gene |
ENSMUSG00000036892 |
| Gene Name |
proline dehydrogenase (oxidase) 2 |
| Synonyms |
MmPOX1, POX1, 2510038B11Rik, 2510028N04Rik |
| MMRRC Submission |
042626-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R5035 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
30193047-30212827 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30205904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 247
(S247C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114778
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058280]
[ENSMUST00000130839]
[ENSMUST00000131040]
[ENSMUST00000133318]
[ENSMUST00000142575]
|
| AlphaFold |
Q8VCZ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058280
AA Change: S261C
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000062214
Gene: ENSMUSG00000036892
AA Change: S261C
| 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 benign
Transcript: ENSMUST00000131040
AA Change: S200C
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000116662
Gene: ENSMUSG00000036892
AA Change: S200C
| 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 |
noncoding transcript
Transcript: ENSMUST00000142514
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142575
AA Change: S247C
PolyPhen 2
Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114778
Gene: ENSMUSG00000036892
AA Change: S247C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
68 |
N/A |
INTRINSIC |
|
Pfam:Pro_dh
|
147 |
284 |
6.5e-14 |
PFAM |
|
| Meta Mutation Damage Score |
0.1332 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
98% (46/47) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
T |
C |
9: 53,494,810 (GRCm39) |
I361V |
probably benign |
Het |
| Afp |
A |
G |
5: 90,655,764 (GRCm39) |
D583G |
probably benign |
Het |
| Bcas3 |
C |
T |
11: 85,434,771 (GRCm39) |
A552V |
probably damaging |
Het |
| Bfsp2 |
T |
G |
9: 103,357,065 (GRCm39) |
T121P |
probably benign |
Het |
| Bicra |
C |
T |
7: 15,713,349 (GRCm39) |
R951Q |
possibly damaging |
Het |
| Cdc40 |
G |
A |
10: 40,725,809 (GRCm39) |
T220I |
probably benign |
Het |
| Cdk5rap3 |
T |
C |
11: 96,806,911 (GRCm39) |
|
probably benign |
Het |
| Clcnka |
A |
T |
4: 141,122,469 (GRCm39) |
Y179* |
probably null |
Het |
| Creb3l1 |
T |
A |
2: 91,817,431 (GRCm39) |
I361F |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,454,175 (GRCm39) |
Y3557C |
probably damaging |
Het |
| Dab2ip |
A |
G |
2: 35,599,953 (GRCm39) |
S190G |
probably benign |
Het |
| Dbx1 |
T |
C |
7: 49,282,284 (GRCm39) |
H307R |
unknown |
Het |
| Dock8 |
C |
A |
19: 25,063,571 (GRCm39) |
P258T |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,804,187 (GRCm39) |
I305V |
probably benign |
Het |
| Frem3 |
T |
A |
8: 81,342,543 (GRCm39) |
F1612Y |
probably damaging |
Het |
| Fubp1 |
A |
G |
3: 151,920,488 (GRCm39) |
T76A |
probably benign |
Het |
| Glmp |
G |
C |
3: 88,233,951 (GRCm39) |
|
probably benign |
Het |
| Gm20918 |
A |
G |
Y: 5,045,992 (GRCm39) |
Q183R |
probably benign |
Het |
| Krt28 |
T |
C |
11: 99,257,650 (GRCm39) |
N397S |
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,740,421 (GRCm39) |
Y583H |
probably benign |
Het |
| Mcm3 |
A |
T |
1: 20,873,642 (GRCm39) |
|
probably benign |
Het |
| Misp |
T |
C |
10: 79,663,790 (GRCm39) |
V588A |
probably benign |
Het |
| Or1j19 |
A |
G |
2: 36,676,903 (GRCm39) |
D122G |
probably damaging |
Het |
| Or2z9 |
T |
A |
8: 72,853,922 (GRCm39) |
L106H |
probably damaging |
Het |
| Or4c105 |
A |
T |
2: 88,648,443 (GRCm39) |
K309N |
probably benign |
Het |
| Or51a43 |
G |
A |
7: 103,717,614 (GRCm39) |
T208I |
possibly damaging |
Het |
| Or8g37 |
G |
A |
9: 39,731,390 (GRCm39) |
A152T |
possibly damaging |
Het |
| Osbpl9 |
A |
G |
4: 108,923,364 (GRCm39) |
F449L |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,431,720 (GRCm39) |
D3358G |
probably damaging |
Het |
| Prr23a3 |
G |
A |
9: 98,747,183 (GRCm39) |
E46K |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,016,214 (GRCm39) |
I837V |
probably benign |
Het |
| Rabgap1l |
A |
C |
1: 160,551,606 (GRCm39) |
F263V |
probably damaging |
Het |
| Rnf4 |
A |
G |
5: 34,508,683 (GRCm39) |
K182E |
probably damaging |
Het |
| Slc24a2 |
G |
T |
4: 86,929,943 (GRCm39) |
R469S |
possibly damaging |
Het |
| Speer2 |
A |
G |
16: 69,654,829 (GRCm39) |
|
probably null |
Het |
| Tg |
C |
A |
15: 66,553,662 (GRCm39) |
|
probably null |
Het |
| Tns1 |
G |
A |
1: 73,992,979 (GRCm39) |
|
probably benign |
Het |
| Top2b |
G |
T |
14: 16,409,966 (GRCm38) |
A878S |
probably benign |
Het |
| Trgc4 |
G |
T |
13: 19,536,506 (GRCm39) |
R188L |
unknown |
Het |
| Ugt3a1 |
G |
A |
15: 9,361,704 (GRCm39) |
R160Q |
probably benign |
Het |
| Ush2a |
G |
T |
1: 188,643,005 (GRCm39) |
L4122F |
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 |
|
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 |
|
R6876:Prodh2
|
UTSW |
7 |
30,205,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GTAACACATGGGCATCCTGG -3'
(R):5'- CTTGTCCAGATAGGCACCTC -3'
Sequencing Primer
(F):5'- ATGGGCATCCTGGCTCCC -3'
(R):5'- AAATGCCAGGCCAGCCTTG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation