Incidental Mutation 'R4204:Prodh'
| ID |
318846 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prodh
|
| Ensembl Gene |
ENSMUSG00000003526 |
| Gene Name |
proline dehydrogenase |
| Synonyms |
Pro-1, Ym24d07, Pro1 |
| MMRRC Submission |
041033-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4204 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
17889590-17907148 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17890182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 553
(V553A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003620]
[ENSMUST00000066027]
[ENSMUST00000076757]
[ENSMUST00000136776]
[ENSMUST00000139861]
[ENSMUST00000143343]
[ENSMUST00000151266]
[ENSMUST00000153123]
[ENSMUST00000155387]
[ENSMUST00000232554]
|
| AlphaFold |
Q9WU79 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003620
AA Change: V553A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000003620
Gene: ENSMUSG00000003526
AA Change: V553A
| 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 |
probably benign
Transcript: ENSMUST00000076757
|
| SMART Domains |
Protein: ENSMUSP00000076044
Gene: ENSMUSG00000003531
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DGCR6
|
2 |
167 |
1.1e-85 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123969
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000126087
AA Change: V223A
|
| SMART Domains |
Protein: ENSMUSP00000121736
Gene: ENSMUSG00000003526
AA Change: V223A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_dh
|
25 |
244 |
2.9e-76 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136776
AA Change: V451A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117597
Gene: ENSMUSG00000003526
AA Change: V451A
| 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 |
noncoding transcript
Transcript: ENSMUST00000148514
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160746
|
| 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 |
probably benign
Transcript: ENSMUST00000141635
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153123
|
| SMART Domains |
Protein: ENSMUSP00000118954
Gene: ENSMUSG00000003531
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DGCR6
|
3 |
163 |
9.6e-83 |
PFAM |
|
| 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: ENSMUST00000232554
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232384
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
98% (46/47) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
C |
4: 53,090,369 (GRCm39) |
K360R |
probably benign |
Het |
| Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
| B130006D01Rik |
A |
G |
11: 95,617,250 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
A |
T |
3: 95,797,057 (GRCm39) |
Y37* |
probably null |
Het |
| Ccdc171 |
A |
T |
4: 83,599,392 (GRCm39) |
M736L |
probably benign |
Het |
| Ccdc88a |
A |
G |
11: 29,413,399 (GRCm39) |
K646E |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,410,335 (GRCm39) |
T192A |
probably benign |
Het |
| Hgs |
C |
A |
11: 120,368,013 (GRCm39) |
P241T |
probably damaging |
Het |
| Itga4 |
T |
C |
2: 79,109,505 (GRCm39) |
Y235H |
probably damaging |
Het |
| Kank2 |
A |
G |
9: 21,706,923 (GRCm39) |
Y32H |
probably damaging |
Het |
| Kprp |
A |
C |
3: 92,732,046 (GRCm39) |
S335A |
probably damaging |
Het |
| Lgals9 |
C |
T |
11: 78,860,642 (GRCm39) |
|
probably benign |
Het |
| Mfrp |
G |
A |
9: 44,016,525 (GRCm39) |
G407S |
possibly damaging |
Het |
| Mfsd9 |
C |
T |
1: 40,820,670 (GRCm39) |
G160R |
probably damaging |
Het |
| Mrtfb |
A |
T |
16: 13,221,119 (GRCm39) |
Q776L |
possibly damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,745,256 (GRCm39) |
Y35C |
probably damaging |
Het |
| Nhej1 |
A |
T |
1: 75,085,782 (GRCm39) |
I6N |
probably damaging |
Het |
| Npy5r |
G |
T |
8: 67,134,693 (GRCm39) |
Y33* |
probably null |
Het |
| Or4c120 |
A |
G |
2: 89,001,124 (GRCm39) |
V144A |
probably benign |
Het |
| Pcdha8 |
G |
C |
18: 37,127,737 (GRCm39) |
V740L |
probably damaging |
Het |
| Pde8b |
C |
A |
13: 95,359,053 (GRCm39) |
C90F |
probably benign |
Het |
| Pex14 |
T |
C |
4: 149,047,984 (GRCm39) |
T198A |
probably benign |
Het |
| Ppp2r2b |
T |
A |
18: 42,871,115 (GRCm39) |
H62L |
probably benign |
Het |
| Rasgef1c |
G |
A |
11: 49,849,535 (GRCm39) |
V137M |
probably benign |
Het |
| Resf1 |
C |
T |
6: 149,231,042 (GRCm39) |
R1363* |
probably null |
Het |
| Rgl2 |
G |
T |
17: 34,155,906 (GRCm39) |
V694L |
probably benign |
Het |
| Rnf133 |
T |
C |
6: 23,649,048 (GRCm39) |
N294D |
probably benign |
Het |
| Rpe65 |
G |
A |
3: 159,310,047 (GRCm39) |
A107T |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,410,892 (GRCm39) |
R56G |
possibly damaging |
Het |
| Serp2 |
A |
G |
14: 76,793,902 (GRCm39) |
I18T |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,868,415 (GRCm39) |
I92V |
probably benign |
Het |
| Tcaim |
A |
G |
9: 122,662,683 (GRCm39) |
K417R |
probably benign |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tmem132c |
A |
G |
5: 127,640,829 (GRCm39) |
D1000G |
possibly damaging |
Het |
| Trpm3 |
T |
A |
19: 22,964,928 (GRCm39) |
D1474E |
probably benign |
Het |
| Ubxn2a |
T |
C |
12: 4,944,593 (GRCm39) |
E43G |
probably damaging |
Het |
| Utp14b |
G |
A |
1: 78,642,539 (GRCm39) |
E146K |
probably benign |
Het |
| Zfp800 |
C |
T |
6: 28,243,180 (GRCm39) |
S595N |
probably benign |
Het |
|
| Other mutations in Prodh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01085:Prodh
|
APN |
16 |
17,894,208 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGTGAACTGTGTCTGGGC -3'
(R):5'- AAGGAGATAGGCCTGCATCC -3'
Sequencing Primer
(F):5'- TTGGGCTAAGGAACCCCAG -3'
(R):5'- AGATAGGCCTGCATCCTGCTG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation