Incidental Mutation 'R2852:Pah'
ID |
252327 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pah
|
Ensembl Gene |
ENSMUSG00000020051 |
Gene Name |
phenylalanine hydroxylase |
Synonyms |
|
MMRRC Submission |
040445-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2852 (G1)
|
Quality Score |
108 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
87357657-87419998 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 87403327 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 131
(L131Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151368
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020241]
[ENSMUST00000217864]
[ENSMUST00000219813]
|
AlphaFold |
P16331 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020241
AA Change: L234Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020241 Gene: ENSMUSG00000020051 AA Change: L234Q
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 damaging
Transcript: ENSMUST00000133293
AA Change: L131Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119455 Gene: ENSMUSG00000020051 AA Change: L131Q
Domain | Start | End | E-Value | Type |
Pfam:Biopterin_H
|
16 |
174 |
3.9e-95 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217864
AA Change: L131Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218573
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219813
|
Meta Mutation Damage Score |
0.9737 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
100% (46/46) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef4 |
A |
C |
1: 34,763,129 (GRCm39) |
D795A |
unknown |
Het |
Bank1 |
A |
T |
3: 135,948,701 (GRCm39) |
S159T |
possibly damaging |
Het |
Catsperd |
A |
G |
17: 56,967,169 (GRCm39) |
|
probably null |
Het |
Cblc |
A |
G |
7: 19,514,889 (GRCm39) |
|
probably null |
Het |
Cfap54 |
T |
C |
10: 92,776,017 (GRCm39) |
Y48C |
probably damaging |
Het |
Chrng |
A |
G |
1: 87,134,428 (GRCm39) |
I156M |
probably benign |
Het |
Dennd5a |
A |
T |
7: 109,532,878 (GRCm39) |
N297K |
probably damaging |
Het |
Depdc5 |
A |
G |
5: 33,081,515 (GRCm39) |
E559G |
probably damaging |
Het |
Dnai4 |
A |
G |
4: 102,953,858 (GRCm39) |
S114P |
probably benign |
Het |
Dzip1 |
A |
C |
14: 119,159,857 (GRCm39) |
M117R |
possibly damaging |
Het |
Ednrb |
G |
T |
14: 104,059,110 (GRCm39) |
S305R |
probably benign |
Het |
Egflam |
A |
T |
15: 7,249,182 (GRCm39) |
W879R |
probably damaging |
Het |
Ehbp1l1 |
T |
A |
19: 5,766,515 (GRCm39) |
D332V |
probably damaging |
Het |
Far1 |
T |
C |
7: 113,152,944 (GRCm39) |
Y351H |
possibly damaging |
Het |
Glrp1 |
GTGCTGCTGCTGCTGCTGCTGCTGCTG |
GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
1: 88,430,997 (GRCm39) |
|
probably benign |
Het |
Hspd1 |
A |
T |
1: 55,120,256 (GRCm39) |
D315E |
probably damaging |
Het |
Kap |
T |
C |
6: 133,827,057 (GRCm39) |
K92E |
probably benign |
Het |
Kcnv2 |
T |
C |
19: 27,300,496 (GRCm39) |
Y116H |
probably benign |
Het |
Krt82 |
T |
C |
15: 101,456,870 (GRCm39) |
Y170C |
probably damaging |
Het |
Krtap13 |
T |
C |
16: 88,548,524 (GRCm39) |
|
probably benign |
Het |
Man2a1 |
A |
G |
17: 65,020,596 (GRCm39) |
K791E |
probably benign |
Het |
Map4k4 |
T |
A |
1: 40,039,915 (GRCm39) |
|
probably benign |
Het |
Mdc1 |
T |
A |
17: 36,159,902 (GRCm39) |
V670D |
probably benign |
Het |
Mre11a |
A |
G |
9: 14,737,843 (GRCm39) |
E599G |
probably benign |
Het |
Mrln |
T |
C |
10: 70,055,456 (GRCm39) |
I44T |
possibly damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,381,769 (GRCm39) |
F3724I |
probably damaging |
Het |
Npsr1 |
A |
G |
9: 24,221,301 (GRCm39) |
|
probably benign |
Het |
Oosp3 |
T |
A |
19: 11,676,896 (GRCm39) |
|
probably null |
Het |
Pde6h |
G |
A |
6: 136,940,206 (GRCm39) |
C64Y |
probably damaging |
Het |
Pdzd7 |
C |
G |
19: 45,016,113 (GRCm39) |
V1003L |
probably benign |
Het |
Pilra |
T |
A |
5: 137,834,342 (GRCm39) |
M14L |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,470,416 (GRCm39) |
|
probably null |
Het |
Rnf168 |
A |
G |
16: 32,101,192 (GRCm39) |
E124G |
probably damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Spata1 |
A |
G |
3: 146,193,295 (GRCm39) |
L96P |
possibly damaging |
Het |
Stk11ip |
A |
G |
1: 75,505,911 (GRCm39) |
|
probably benign |
Het |
Stx5a |
T |
C |
19: 8,732,476 (GRCm39) |
|
probably benign |
Het |
Tek |
A |
G |
4: 94,708,461 (GRCm39) |
T340A |
probably benign |
Het |
Tmeff1 |
T |
A |
4: 48,604,692 (GRCm39) |
|
probably null |
Het |
Vmn2r85 |
T |
A |
10: 130,255,035 (GRCm39) |
M550L |
probably benign |
Het |
Zfp14 |
A |
G |
7: 29,738,596 (GRCm39) |
Y130H |
probably benign |
Het |
Zfp653 |
A |
T |
9: 21,968,862 (GRCm39) |
D426E |
probably benign |
Het |
Zfyve28 |
G |
A |
5: 34,354,006 (GRCm39) |
P834L |
probably damaging |
Het |
Zkscan16 |
A |
G |
4: 58,957,364 (GRCm39) |
T549A |
possibly 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 |
|
IGL03096:Pah
|
APN |
10 |
87,374,104 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTATTCTAGTGGGCAGCCC -3'
(R):5'- CCTAACATTCTTGCATGGATGG -3'
Sequencing Primer
(F):5'- AGCCCATTCCTCGGGTG -3'
(R):5'- TTGCATGGATGGAAGATCAATAATG -3'
|
Posted On |
2014-12-04 |