Incidental Mutation 'IGL03096:Pah'
| ID |
418569 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pah
|
| Ensembl Gene |
ENSMUSG00000020051 |
| Gene Name |
phenylalanine hydroxylase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03096
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
87357657-87419998 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 87374104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020241]
[ENSMUST00000219813]
|
| AlphaFold |
P16331 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020241
AA Change: V90A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020241
Gene: ENSMUSG00000020051
AA Change: V90A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACT
|
35 |
100 |
1.8e-10 |
PFAM |
|
Pfam:Biopterin_H
|
119 |
449 |
1.3e-177 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000143624
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000218573
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219813
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for ENU-induced mutations of this gene have altered serum and urine phenylalanine levels and may display reduced body size, microcephaly, microphthalmia, decreased litter size, hypopigmentation, impaired balance/swimming, cognitive deficits, and environmentally-induced seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
A |
G |
11: 80,265,005 (GRCm39) |
F149S |
probably damaging |
Het |
| Ablim2 |
A |
T |
5: 36,040,743 (GRCm39) |
K103* |
probably null |
Het |
| Anapc4 |
C |
T |
5: 53,023,271 (GRCm39) |
T704I |
possibly damaging |
Het |
| Ccar1 |
A |
T |
10: 62,600,112 (GRCm39) |
D606E |
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,904,670 (GRCm39) |
I357V |
probably benign |
Het |
| Col7a1 |
C |
A |
9: 108,784,856 (GRCm39) |
P228H |
unknown |
Het |
| Dock4 |
A |
G |
12: 40,798,000 (GRCm39) |
I875V |
probably benign |
Het |
| Fndc3a |
A |
T |
14: 72,836,559 (GRCm39) |
S67T |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,912,760 (GRCm39) |
T3355A |
probably damaging |
Het |
| Gtf3a |
G |
A |
5: 146,890,763 (GRCm39) |
R248Q |
probably damaging |
Het |
| Hcrtr2 |
T |
A |
9: 76,161,908 (GRCm39) |
M161L |
probably benign |
Het |
| Il27ra |
G |
T |
8: 84,758,161 (GRCm39) |
L530M |
probably damaging |
Het |
| Kcnj15 |
A |
G |
16: 95,097,293 (GRCm39) |
E305G |
probably damaging |
Het |
| Map3k6 |
A |
T |
4: 132,978,656 (GRCm39) |
K1086* |
probably null |
Het |
| Neb |
T |
C |
2: 52,139,484 (GRCm39) |
I3044V |
possibly damaging |
Het |
| Ntng1 |
A |
T |
3: 110,042,665 (GRCm39) |
S54T |
probably benign |
Het |
| Or6c208 |
T |
C |
10: 129,224,318 (GRCm39) |
V272A |
probably damaging |
Het |
| Pex3 |
A |
T |
10: 13,410,407 (GRCm39) |
|
probably benign |
Het |
| Plcg1 |
T |
C |
2: 160,599,126 (GRCm39) |
|
probably benign |
Het |
| Pramel27 |
A |
G |
4: 143,577,485 (GRCm39) |
D89G |
probably benign |
Het |
| Prl7c1 |
A |
T |
13: 27,957,689 (GRCm39) |
D250E |
probably damaging |
Het |
| Prrc2c |
C |
T |
1: 162,529,928 (GRCm39) |
G144S |
unknown |
Het |
| Rad51c |
A |
G |
11: 87,279,472 (GRCm39) |
L304P |
probably damaging |
Het |
| Rnf20 |
A |
C |
4: 49,638,615 (GRCm39) |
|
probably benign |
Het |
| Six3 |
A |
G |
17: 85,929,365 (GRCm39) |
N233S |
possibly damaging |
Het |
| Slc2a9 |
T |
A |
5: 38,508,572 (GRCm39) |
I476F |
probably damaging |
Het |
| Trps1 |
A |
C |
15: 50,709,875 (GRCm39) |
H154Q |
probably benign |
Het |
| Uvssa |
T |
C |
5: 33,568,268 (GRCm39) |
V552A |
probably benign |
Het |
| Vmn2r118 |
T |
G |
17: 55,914,996 (GRCm39) |
N550T |
probably damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,487,751 (GRCm39) |
I208K |
probably damaging |
Het |
|
| Other mutations in Pah |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00479:Pah
|
APN |
10 |
87,414,755 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00823:Pah
|
APN |
10 |
87,406,193 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL01350:Pah
|
APN |
10 |
87,414,221 (GRCm39) |
intron |
probably benign |
|
|
IGL01668:Pah
|
APN |
10 |
87,414,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01794:Pah
|
APN |
10 |
87,414,784 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL01956:Pah
|
APN |
10 |
87,374,061 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01985:Pah
|
APN |
10 |
87,414,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02014:Pah
|
APN |
10 |
87,417,789 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02552:Pah
|
APN |
10 |
87,414,707 (GRCm39) |
intron |
probably benign |
|
|
bronze
|
UTSW |
10 |
87,406,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
parakeet
|
UTSW |
10 |
87,412,077 (GRCm39) |
critical splice donor site |
probably null |
|
|
skeet
|
UTSW |
10 |
87,374,081 (GRCm39) |
nonsense |
probably null |
|
|
R0238:Pah
|
UTSW |
10 |
87,403,143 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0239:Pah
|
UTSW |
10 |
87,403,143 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0239:Pah
|
UTSW |
10 |
87,403,143 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0839:Pah
|
UTSW |
10 |
87,357,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0853:Pah
|
UTSW |
10 |
87,412,080 (GRCm39) |
splice site |
probably null |
|
|
R1474:Pah
|
UTSW |
10 |
87,414,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Pah
|
UTSW |
10 |
87,403,330 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1886:Pah
|
UTSW |
10 |
87,364,190 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2179:Pah
|
UTSW |
10 |
87,403,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2852:Pah
|
UTSW |
10 |
87,403,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3818:Pah
|
UTSW |
10 |
87,357,866 (GRCm39) |
start gained |
probably benign |
|
|
R4509:Pah
|
UTSW |
10 |
87,412,077 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4725:Pah
|
UTSW |
10 |
87,390,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Pah
|
UTSW |
10 |
87,406,129 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5094:Pah
|
UTSW |
10 |
87,374,081 (GRCm39) |
nonsense |
probably null |
|
|
R5766:Pah
|
UTSW |
10 |
87,403,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6210:Pah
|
UTSW |
10 |
87,419,423 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6273:Pah
|
UTSW |
10 |
87,412,077 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6345:Pah
|
UTSW |
10 |
87,412,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6349:Pah
|
UTSW |
10 |
87,414,831 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7109:Pah
|
UTSW |
10 |
87,406,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7470:Pah
|
UTSW |
10 |
87,399,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7511:Pah
|
UTSW |
10 |
87,390,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8288:Pah
|
UTSW |
10 |
87,374,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8447:Pah
|
UTSW |
10 |
87,417,827 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8684:Pah
|
UTSW |
10 |
87,414,827 (GRCm39) |
missense |
probably benign |
|
|
R9216:Pah
|
UTSW |
10 |
87,357,888 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9292:Pah
|
UTSW |
10 |
87,403,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9589:Pah
|
UTSW |
10 |
87,403,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Pah
|
UTSW |
10 |
87,407,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation