Incidental Mutation 'IGL01085:Prodh'
| ID |
52902 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prodh
|
| Ensembl Gene |
ENSMUSG00000003526 |
| Gene Name |
proline dehydrogenase |
| Synonyms |
Pro-1, Ym24d07, Pro1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01085
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
17889590-17907148 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 17894208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 339
(V339E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003620]
[ENSMUST00000066027]
[ENSMUST00000136776]
[ENSMUST00000139861]
[ENSMUST00000155387]
[ENSMUST00000143343]
[ENSMUST00000151266]
[ENSMUST00000232554]
|
| AlphaFold |
Q9WU79 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003620
AA Change: V441E
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000003620
Gene: ENSMUSG00000003526
AA Change: V441E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
52 |
N/A |
INTRINSIC |
|
Pfam:Pro_dh
|
119 |
578 |
7.7e-87 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066027
|
| SMART Domains |
Protein: ENSMUSP00000067682
Gene: ENSMUSG00000003531
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DGCR6
|
1 |
198 |
4e-97 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123969
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000126087
AA Change: V111E
|
| SMART Domains |
Protein: ENSMUSP00000121736
Gene: ENSMUSG00000003526
AA Change: V111E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_dh
|
25 |
244 |
2.9e-76 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136776
AA Change: V339E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117597
Gene: ENSMUSG00000003526
AA Change: V339E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
118 |
129 |
N/A |
INTRINSIC |
|
Pfam:Pro_dh
|
159 |
479 |
1.8e-108 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139861
|
| SMART Domains |
Protein: ENSMUSP00000123223
Gene: ENSMUSG00000003526
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
52 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141635
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155387
|
| SMART Domains |
Protein: ENSMUSP00000123053
Gene: ENSMUSG00000003531
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DGCR6
|
2 |
41 |
1.6e-10 |
PFAM |
|
Pfam:DGCR6
|
59 |
230 |
9.3e-84 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143343
|
| SMART Domains |
Protein: ENSMUSP00000123029
Gene: ENSMUSG00000003531
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DGCR6
|
2 |
167 |
1.1e-85 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151266
|
| SMART Domains |
Protein: ENSMUSP00000122572
Gene: ENSMUSG00000003531
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DGCR6
|
1 |
195 |
3.1e-99 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000232554
AA Change: V117E
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232384
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygotes for a spontaneous null mutation exhibit a slight reduction in male body weight, hyperprolinemia, increased startle reflex, and regionally altered brain levels of proline, glutamate, gamma-aminobutyric acid, and aspartate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
A |
G |
3: 59,944,763 (GRCm39) |
|
probably benign |
Het |
| Acp7 |
T |
C |
7: 28,310,478 (GRCm39) |
Y453C |
probably damaging |
Het |
| Bop1 |
T |
C |
15: 76,337,576 (GRCm39) |
D683G |
probably damaging |
Het |
| Cacna1b |
G |
T |
2: 24,569,006 (GRCm39) |
R974S |
probably damaging |
Het |
| Ceacam23 |
A |
T |
7: 17,649,616 (GRCm39) |
H729L |
possibly damaging |
Het |
| Cenpt |
T |
C |
8: 106,573,297 (GRCm39) |
E350G |
possibly damaging |
Het |
| Cep112 |
G |
T |
11: 108,377,432 (GRCm39) |
R270L |
probably damaging |
Het |
| Crem |
T |
C |
18: 3,299,236 (GRCm39) |
T26A |
probably damaging |
Het |
| Crot |
T |
C |
5: 9,023,955 (GRCm39) |
H387R |
probably damaging |
Het |
| Fdxr |
A |
T |
11: 115,160,402 (GRCm39) |
V351E |
probably benign |
Het |
| Fkbpl |
T |
C |
17: 34,864,718 (GRCm39) |
L162P |
probably damaging |
Het |
| Fmn2 |
T |
A |
1: 174,523,220 (GRCm39) |
N1358K |
probably damaging |
Het |
| Hectd4 |
G |
T |
5: 121,469,764 (GRCm39) |
G2553V |
probably damaging |
Het |
| Ifna16 |
A |
T |
4: 88,594,969 (GRCm39) |
I42K |
probably benign |
Het |
| Igfals |
C |
T |
17: 25,100,634 (GRCm39) |
T575I |
probably benign |
Het |
| Il6 |
G |
T |
5: 30,218,487 (GRCm39) |
V28F |
probably damaging |
Het |
| Irx1 |
A |
G |
13: 72,107,816 (GRCm39) |
S289P |
probably benign |
Het |
| Ncoa2 |
T |
C |
1: 13,219,303 (GRCm39) |
T1245A |
possibly damaging |
Het |
| Nr3c2 |
G |
T |
8: 77,634,983 (GRCm39) |
R28L |
probably benign |
Het |
| Nudt5 |
G |
A |
2: 5,869,238 (GRCm39) |
V155I |
probably benign |
Het |
| Or9s13 |
G |
T |
1: 92,547,921 (GRCm39) |
V98F |
possibly damaging |
Het |
| Pcm1 |
T |
C |
8: 41,762,640 (GRCm39) |
S1395P |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,426,148 (GRCm39) |
|
probably null |
Het |
| Rbm48 |
C |
T |
5: 3,634,762 (GRCm39) |
V401M |
probably benign |
Het |
| Retreg3 |
G |
A |
11: 100,991,751 (GRCm39) |
Q61* |
probably null |
Het |
| Rif1 |
A |
G |
2: 51,975,152 (GRCm39) |
M354V |
possibly damaging |
Het |
| Rrn3 |
G |
A |
16: 13,626,926 (GRCm39) |
V507M |
probably damaging |
Het |
| Safb2 |
T |
A |
17: 56,872,242 (GRCm39) |
R197* |
probably null |
Het |
| Slc22a26 |
A |
G |
19: 7,767,464 (GRCm39) |
V314A |
probably benign |
Het |
| Slfnl1 |
G |
T |
4: 120,390,553 (GRCm39) |
R68L |
probably damaging |
Het |
| Spata1 |
G |
T |
3: 146,181,997 (GRCm39) |
Q10K |
possibly damaging |
Het |
| Swi5 |
T |
C |
2: 32,170,739 (GRCm39) |
M95V |
possibly damaging |
Het |
| Thpo |
T |
C |
16: 20,547,205 (GRCm39) |
D52G |
probably damaging |
Het |
| Tmem101 |
A |
T |
11: 102,045,486 (GRCm39) |
L121Q |
probably damaging |
Het |
| Trim40 |
T |
C |
17: 37,194,133 (GRCm39) |
I187V |
probably benign |
Het |
| Usp33 |
A |
G |
3: 152,074,206 (GRCm39) |
K351E |
possibly damaging |
Het |
| Uvrag |
T |
C |
7: 98,767,431 (GRCm39) |
T67A |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,828,077 (GRCm39) |
D2163G |
probably damaging |
Het |
| Wnt7a |
C |
T |
6: 91,385,771 (GRCm39) |
V61I |
probably benign |
Het |
| Zfp804b |
A |
G |
5: 6,820,931 (GRCm39) |
S675P |
probably damaging |
Het |
|
| Other mutations in Prodh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02063:Prodh
|
APN |
16 |
17,897,049 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02525:Prodh
|
APN |
16 |
17,890,332 (GRCm39) |
nonsense |
probably null |
|
|
R0147:Prodh
|
UTSW |
16 |
17,895,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0148:Prodh
|
UTSW |
16 |
17,895,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1643:Prodh
|
UTSW |
16 |
17,898,933 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1913:Prodh
|
UTSW |
16 |
17,898,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4190:Prodh
|
UTSW |
16 |
17,891,504 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4191:Prodh
|
UTSW |
16 |
17,891,504 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4193:Prodh
|
UTSW |
16 |
17,891,504 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4204:Prodh
|
UTSW |
16 |
17,890,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5074:Prodh
|
UTSW |
16 |
17,895,653 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6194:Prodh
|
UTSW |
16 |
17,890,381 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6274:Prodh
|
UTSW |
16 |
17,898,922 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6376:Prodh
|
UTSW |
16 |
17,897,849 (GRCm39) |
missense |
probably benign |
|
|
R6744:Prodh
|
UTSW |
16 |
17,897,064 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8985:Prodh
|
UTSW |
16 |
17,890,362 (GRCm39) |
missense |
probably null |
0.00 |
|
R9335:Prodh
|
UTSW |
16 |
17,894,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9361:Prodh
|
UTSW |
16 |
17,898,834 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9568:Prodh
|
UTSW |
16 |
17,902,619 (GRCm39) |
intron |
probably benign |
|
|
R9789:Prodh
|
UTSW |
16 |
17,898,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Prodh
|
UTSW |
16 |
17,906,891 (GRCm39) |
missense |
probably benign |
0.34 |
|
| Posted On |
2013-06-21 |
Incidental Mutation