Incidental Mutation 'R4190:Prodh'
| ID |
319933 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prodh
|
| Ensembl Gene |
ENSMUSG00000003526 |
| Gene Name |
proline dehydrogenase |
| Synonyms |
Pro-1, Ym24d07, Pro1 |
| MMRRC Submission |
041021-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4190 (G1)
|
| Quality Score |
212 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
17889590-17907148 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 17891504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 480
(V480I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003620]
[ENSMUST00000066027]
[ENSMUST00000076757]
[ENSMUST00000136776]
[ENSMUST00000139861]
[ENSMUST00000155387]
[ENSMUST00000151266]
[ENSMUST00000143343]
[ENSMUST00000153123]
[ENSMUST00000232554]
|
| AlphaFold |
Q9WU79 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003620
AA Change: V480I
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000003620
Gene: ENSMUSG00000003526
AA Change: V480I
| 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: V150I
|
| SMART Domains |
Protein: ENSMUSP00000121736
Gene: ENSMUSG00000003526
AA Change: V150I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_dh
|
25 |
244 |
2.9e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136776
AA Change: V378I
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000117597
Gene: ENSMUSG00000003526
AA Change: V378I
| 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: 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: 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: 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: 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: ENSMUST00000232554
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232384
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
96% (50/52) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot4 |
T |
C |
12: 84,089,948 (GRCm39) |
|
probably benign |
Het |
| Adgre1 |
A |
G |
17: 57,709,811 (GRCm39) |
Y156C |
unknown |
Het |
| Ankrd13b |
G |
A |
11: 77,367,201 (GRCm39) |
A21V |
probably damaging |
Het |
| Atf7ip |
T |
C |
6: 136,564,499 (GRCm39) |
V914A |
probably damaging |
Het |
| C230029F24Rik |
AGAAAG |
A |
1: 49,350,088 (GRCm39) |
|
noncoding transcript |
Het |
| Calcr |
T |
A |
6: 3,717,106 (GRCm39) |
D118V |
possibly damaging |
Het |
| Cdc42bpg |
T |
C |
19: 6,371,711 (GRCm39) |
V1330A |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,720,885 (GRCm39) |
E2567G |
unknown |
Het |
| Ctse |
T |
A |
1: 131,590,479 (GRCm39) |
V67D |
probably benign |
Het |
| Ddx19b |
A |
T |
8: 111,737,980 (GRCm39) |
L256Q |
probably damaging |
Het |
| Dipk1b |
T |
C |
2: 26,526,193 (GRCm39) |
Y376H |
probably damaging |
Het |
| Fahd2a |
C |
T |
2: 127,280,486 (GRCm39) |
V156I |
probably benign |
Het |
| Fam185a |
T |
A |
5: 21,630,122 (GRCm39) |
|
probably benign |
Het |
| Fam234a |
A |
T |
17: 26,432,834 (GRCm39) |
L467Q |
probably damaging |
Het |
| Gabra2 |
G |
A |
5: 71,165,341 (GRCm39) |
P210S |
probably benign |
Het |
| Heatr3 |
T |
C |
8: 88,864,888 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,772,196 (GRCm39) |
V1125A |
probably benign |
Het |
| Itga11 |
T |
A |
9: 62,639,391 (GRCm39) |
C129S |
probably damaging |
Het |
| Lama2 |
A |
G |
10: 27,142,660 (GRCm39) |
L606P |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,366,835 (GRCm39) |
F1077S |
possibly damaging |
Het |
| Mtmr10 |
G |
T |
7: 63,963,934 (GRCm39) |
W223L |
probably benign |
Het |
| Nlgn1 |
T |
A |
3: 25,488,062 (GRCm39) |
T758S |
probably benign |
Het |
| Nr4a1 |
T |
C |
15: 101,171,993 (GRCm39) |
S556P |
probably damaging |
Het |
| Or4c126 |
C |
A |
2: 89,823,918 (GRCm39) |
Y60* |
probably null |
Het |
| Or5p64 |
T |
C |
7: 107,855,330 (GRCm39) |
D5G |
probably benign |
Het |
| Or6c201 |
T |
C |
10: 128,968,836 (GRCm39) |
N267S |
possibly damaging |
Het |
| Or6c33 |
A |
T |
10: 129,853,847 (GRCm39) |
I206F |
probably damaging |
Het |
| Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
| Plscr5 |
T |
C |
9: 92,080,651 (GRCm39) |
S46P |
probably benign |
Het |
| Ppp2r3d |
T |
C |
9: 124,424,123 (GRCm38) |
|
probably benign |
Het |
| Senp2 |
G |
T |
16: 21,865,417 (GRCm39) |
W580L |
probably damaging |
Het |
| Sorcs3 |
T |
C |
19: 48,737,812 (GRCm39) |
V743A |
possibly damaging |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Stab2 |
G |
T |
10: 86,714,808 (GRCm39) |
N119K |
probably damaging |
Het |
| Telo2 |
T |
C |
17: 25,320,987 (GRCm39) |
T743A |
probably benign |
Het |
| Trav6-1 |
A |
G |
14: 52,875,976 (GRCm39) |
N2S |
probably benign |
Het |
| Trmt44 |
C |
A |
5: 35,732,314 (GRCm39) |
V26L |
possibly damaging |
Het |
| Ttbk1 |
A |
T |
17: 46,790,173 (GRCm39) |
C91S |
probably damaging |
Het |
| Vit |
A |
G |
17: 78,894,255 (GRCm39) |
H219R |
probably benign |
Het |
| Vmn2r84 |
A |
T |
10: 130,227,163 (GRCm39) |
L225* |
probably null |
Het |
| Vmn2r87 |
A |
G |
10: 130,308,556 (GRCm39) |
Y561H |
probably damaging |
Het |
| Yars1 |
T |
A |
4: 129,093,820 (GRCm39) |
C60* |
probably null |
Het |
| Zfp202 |
T |
C |
9: 40,122,633 (GRCm39) |
V465A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCACTGATGAAATCCCG -3'
(R):5'- ATGACAGGCAGGAACGGTTC -3'
Sequencing Primer
(F):5'- CAGTGCTGGGTTACAAGTCCTAC -3'
(R):5'- TTCTCTGCAGAGCCAACA -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation