Incidental Mutation 'R6194:Prodh'
| ID |
502810 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prodh
|
| Ensembl Gene |
ENSMUSG00000003526 |
| Gene Name |
proline dehydrogenase |
| Synonyms |
Pro-1, Ym24d07, Pro1 |
| MMRRC Submission |
044334-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6194 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
17889590-17907148 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 17890381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 515
(H515Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003620]
[ENSMUST00000066027]
[ENSMUST00000076757]
[ENSMUST00000136776]
[ENSMUST00000139861]
[ENSMUST00000151266]
[ENSMUST00000143343]
[ENSMUST00000153123]
[ENSMUST00000155387]
[ENSMUST00000232554]
|
| AlphaFold |
Q9WU79 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003620
AA Change: H515Q
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000003620
Gene: ENSMUSG00000003526
AA Change: H515Q
| 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: H185Q
|
| SMART Domains |
Protein: ENSMUSP00000121736
Gene: ENSMUSG00000003526
AA Change: H185Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_dh
|
25 |
244 |
2.9e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136776
AA Change: H413Q
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000117597
Gene: ENSMUSG00000003526
AA Change: H413Q
| 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: ENSMUST00000151266
|
| SMART Domains |
Protein: ENSMUSP00000122572
Gene: ENSMUSG00000003531
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DGCR6
|
1 |
195 |
3.1e-99 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148514
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160746
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141635
|
| 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: 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031410I06Rik |
T |
C |
5: 26,309,033 (GRCm39) |
I90V |
probably benign |
Het |
| Afap1l2 |
T |
A |
19: 56,911,383 (GRCm39) |
R370S |
probably damaging |
Het |
| Alcam |
A |
G |
16: 52,088,761 (GRCm39) |
Y537H |
probably damaging |
Het |
| Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
| Asap1 |
A |
G |
15: 64,001,058 (GRCm39) |
S508P |
probably damaging |
Het |
| Atg5 |
T |
C |
10: 44,170,612 (GRCm39) |
L86P |
probably damaging |
Het |
| Atp13a5 |
G |
A |
16: 29,127,057 (GRCm39) |
P502S |
probably damaging |
Het |
| AW209491 |
T |
A |
13: 14,811,705 (GRCm39) |
I186K |
possibly damaging |
Het |
| Baz1b |
T |
C |
5: 135,272,744 (GRCm39) |
Y1354H |
probably damaging |
Het |
| Card6 |
A |
T |
15: 5,127,926 (GRCm39) |
S1157T |
unknown |
Het |
| Chil6 |
A |
G |
3: 106,312,192 (GRCm39) |
|
probably null |
Het |
| Chrna1 |
A |
G |
2: 73,400,816 (GRCm39) |
V238A |
probably benign |
Het |
| Cluap1 |
A |
G |
16: 3,747,770 (GRCm39) |
S308G |
probably benign |
Het |
| Cntnap4 |
A |
G |
8: 113,602,061 (GRCm39) |
D1155G |
probably damaging |
Het |
| Cptp |
A |
G |
4: 155,951,098 (GRCm39) |
F123L |
probably damaging |
Het |
| Elapor1 |
T |
C |
3: 108,373,095 (GRCm39) |
I600V |
probably benign |
Het |
| Fbxw2 |
G |
A |
2: 34,697,416 (GRCm39) |
T317I |
probably damaging |
Het |
| Gc |
A |
T |
5: 89,589,438 (GRCm39) |
V197E |
probably benign |
Het |
| Gusb |
C |
T |
5: 130,018,906 (GRCm39) |
V577M |
possibly damaging |
Het |
| Hectd1 |
A |
T |
12: 51,795,228 (GRCm39) |
N2400K |
probably damaging |
Het |
| Hnrnph1 |
T |
A |
11: 50,274,104 (GRCm39) |
D340E |
possibly damaging |
Het |
| Hs3st1 |
C |
A |
5: 39,771,748 (GRCm39) |
K298N |
probably damaging |
Het |
| Hunk |
A |
T |
16: 90,293,283 (GRCm39) |
T522S |
probably damaging |
Het |
| Ifit3 |
T |
C |
19: 34,565,027 (GRCm39) |
F191S |
probably benign |
Het |
| Ifnab |
T |
A |
4: 88,609,362 (GRCm39) |
K35* |
probably null |
Het |
| Ifnab |
G |
T |
4: 88,609,363 (GRCm39) |
N34K |
probably damaging |
Het |
| Ighmbp2 |
C |
A |
19: 3,312,003 (GRCm39) |
R917L |
possibly damaging |
Het |
| Igkv13-84 |
C |
T |
6: 68,916,916 (GRCm39) |
A71V |
possibly damaging |
Het |
| Irag1 |
T |
C |
7: 110,498,901 (GRCm39) |
N377D |
probably damaging |
Het |
| Lim2 |
T |
A |
7: 43,085,086 (GRCm39) |
C159S |
probably damaging |
Het |
| Lrrc56 |
T |
C |
7: 140,785,564 (GRCm39) |
Y147H |
probably damaging |
Het |
| Ltn1 |
A |
G |
16: 87,212,698 (GRCm39) |
L621P |
probably damaging |
Het |
| Mapk8ip1 |
C |
A |
2: 92,219,589 (GRCm39) |
G81C |
probably damaging |
Het |
| Mboat2 |
T |
A |
12: 24,996,637 (GRCm39) |
S213R |
probably benign |
Het |
| Mmel1 |
T |
A |
4: 154,967,673 (GRCm39) |
C99* |
probably null |
Het |
| Myo9a |
A |
G |
9: 59,777,033 (GRCm39) |
I1144V |
probably benign |
Het |
| Naa15 |
A |
G |
3: 51,370,721 (GRCm39) |
T612A |
probably benign |
Het |
| Naalad2 |
C |
T |
9: 18,262,443 (GRCm39) |
V362I |
probably benign |
Het |
| Nbeal1 |
A |
T |
1: 60,296,643 (GRCm39) |
I1178F |
possibly damaging |
Het |
| Nras |
C |
A |
3: 102,966,269 (GRCm39) |
A11E |
probably damaging |
Het |
| Or13f5 |
T |
A |
4: 52,825,779 (GRCm39) |
C127* |
probably null |
Het |
| Or56a3b |
G |
T |
7: 104,771,377 (GRCm39) |
V238L |
probably benign |
Het |
| Pcdhb7 |
A |
G |
18: 37,475,199 (GRCm39) |
T112A |
probably damaging |
Het |
| Peg10 |
C |
CCCATCAGGA |
6: 4,756,351 (GRCm39) |
|
probably benign |
Het |
| Pfkfb2 |
A |
G |
1: 130,625,624 (GRCm39) |
*519Q |
probably null |
Het |
| Rbfox2 |
T |
C |
15: 76,968,357 (GRCm39) |
T435A |
possibly damaging |
Het |
| Rbks |
T |
C |
5: 31,824,234 (GRCm39) |
E87G |
probably benign |
Het |
| Scyl1 |
G |
T |
19: 5,820,334 (GRCm39) |
Q167K |
possibly damaging |
Het |
| Serpina3i |
T |
A |
12: 104,232,762 (GRCm39) |
D222E |
probably benign |
Het |
| Slc36a4 |
T |
A |
9: 15,638,172 (GRCm39) |
C199* |
probably null |
Het |
| Slx1b |
C |
T |
7: 126,291,503 (GRCm39) |
R187H |
possibly damaging |
Het |
| Stxbp5 |
A |
G |
10: 9,693,083 (GRCm39) |
F348L |
probably damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tfpt |
A |
T |
7: 3,632,026 (GRCm39) |
L28Q |
probably damaging |
Het |
| Trap1 |
G |
A |
16: 3,872,664 (GRCm39) |
T335M |
possibly damaging |
Het |
| Zcchc2 |
T |
A |
1: 105,918,847 (GRCm39) |
F110I |
probably damaging |
Het |
| Zfp345 |
A |
T |
2: 150,314,551 (GRCm39) |
C329S |
probably damaging |
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 |
|
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 |
|
|
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'- GCACATACTTGTACACAGGAAAGC -3'
(R):5'- GGACAAGTTTTCTGCCCTGG -3'
Sequencing Primer
(F):5'- CCCAGGAAAATCCAGTTCA -3'
(R):5'- GTTGTACTGTGAAGACCTAGATAGC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation