Incidental Mutation 'R2179:Pah'
| ID |
237062 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pah
|
| Ensembl Gene |
ENSMUSG00000020051 |
| Gene Name |
phenylalanine hydroxylase |
| Synonyms |
|
| MMRRC Submission |
040181-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2179 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
87357657-87419998 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87403197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 191
(F191L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020241
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020241]
[ENSMUST00000217864]
[ENSMUST00000219813]
|
| AlphaFold |
P16331 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020241
AA Change: F191L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020241
Gene: ENSMUSG00000020051
AA Change: F191L
| 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: F88L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119455
Gene: ENSMUSG00000020051
AA Change: F88L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Biopterin_H
|
16 |
174 |
3.9e-95 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217864
AA Change: F88L
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218573
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219813
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
C |
10: 10,271,018 (GRCm39) |
D849G |
possibly damaging |
Het |
| Amz2 |
A |
G |
11: 109,320,658 (GRCm39) |
H155R |
probably damaging |
Het |
| Cfhr4 |
G |
T |
1: 139,659,279 (GRCm39) |
P679Q |
probably damaging |
Het |
| Chuk |
C |
A |
19: 44,092,160 (GRCm39) |
C46F |
possibly damaging |
Het |
| Cp |
A |
T |
3: 20,042,151 (GRCm39) |
D973V |
probably damaging |
Het |
| Cpm |
T |
A |
10: 117,519,266 (GRCm39) |
D391E |
probably benign |
Het |
| Creb3 |
T |
C |
4: 43,566,306 (GRCm39) |
S271P |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,323,053 (GRCm39) |
H2838L |
possibly damaging |
Het |
| Dennd2d |
A |
G |
3: 106,399,776 (GRCm39) |
H233R |
probably benign |
Het |
| Dnaaf2 |
C |
A |
12: 69,245,071 (GRCm39) |
|
probably benign |
Het |
| Enpp3 |
T |
A |
10: 24,681,793 (GRCm39) |
Q304H |
probably benign |
Het |
| Fermt3 |
C |
A |
19: 6,991,782 (GRCm39) |
R143L |
probably benign |
Het |
| Fndc8 |
A |
C |
11: 82,789,580 (GRCm39) |
K246T |
probably damaging |
Het |
| Gaa |
A |
G |
11: 119,165,884 (GRCm39) |
|
probably null |
Het |
| Gucy2e |
A |
T |
11: 69,119,404 (GRCm39) |
|
probably null |
Het |
| Igf1r |
A |
G |
7: 67,653,698 (GRCm39) |
T79A |
probably damaging |
Het |
| Ikbkb |
C |
T |
8: 23,171,769 (GRCm39) |
|
probably null |
Het |
| Il16 |
A |
T |
7: 83,337,287 (GRCm39) |
|
probably null |
Het |
| Irs1 |
T |
A |
1: 82,267,940 (GRCm39) |
H92L |
possibly damaging |
Het |
| Itpr2 |
A |
G |
6: 146,277,464 (GRCm39) |
M315T |
probably benign |
Het |
| Lrba |
T |
G |
3: 86,261,588 (GRCm39) |
L1514R |
probably damaging |
Het |
| Mcpt2 |
A |
G |
14: 56,279,573 (GRCm39) |
|
probably benign |
Het |
| Metap1d |
A |
G |
2: 71,283,715 (GRCm39) |
I5V |
probably benign |
Het |
| Mga |
T |
A |
2: 119,790,923 (GRCm39) |
S2479T |
probably damaging |
Het |
| Mllt10 |
T |
C |
2: 18,215,604 (GRCm39) |
V1063A |
probably damaging |
Het |
| Mroh2b |
G |
A |
15: 4,950,928 (GRCm39) |
|
probably null |
Het |
| Mtfr1 |
C |
T |
3: 19,254,308 (GRCm39) |
R15* |
probably null |
Het |
| Npm2 |
A |
G |
14: 70,885,749 (GRCm39) |
V152A |
probably benign |
Het |
| Nrxn3 |
T |
A |
12: 89,221,448 (GRCm39) |
V409D |
probably damaging |
Het |
| Ogdhl |
A |
G |
14: 32,057,302 (GRCm39) |
N303D |
probably damaging |
Het |
| Or10g9 |
T |
C |
9: 39,912,220 (GRCm39) |
Y101C |
probably benign |
Het |
| Or10q1b |
T |
C |
19: 13,682,758 (GRCm39) |
V189A |
probably damaging |
Het |
| Or4d11 |
T |
C |
19: 12,013,452 (GRCm39) |
Y218C |
probably damaging |
Het |
| Or6s1 |
A |
G |
14: 51,308,238 (GRCm39) |
V204A |
probably benign |
Het |
| Paics |
A |
T |
5: 77,109,291 (GRCm39) |
I209F |
probably damaging |
Het |
| Pcare |
T |
C |
17: 72,059,521 (GRCm39) |
D52G |
probably damaging |
Het |
| Pld6 |
A |
G |
11: 59,678,184 (GRCm39) |
L93P |
probably damaging |
Het |
| Plod3 |
T |
C |
5: 137,019,862 (GRCm39) |
F431L |
possibly damaging |
Het |
| Ppm1b |
T |
A |
17: 85,301,862 (GRCm39) |
D247E |
probably damaging |
Het |
| Prx |
A |
G |
7: 27,217,410 (GRCm39) |
D637G |
probably benign |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,720,679 (GRCm39) |
Y2656* |
probably null |
Het |
| Setd2 |
T |
A |
9: 110,423,756 (GRCm39) |
Y492* |
probably null |
Het |
| Shmt1 |
A |
G |
11: 60,697,825 (GRCm39) |
W9R |
possibly damaging |
Het |
| Slc25a17 |
A |
G |
15: 81,222,151 (GRCm39) |
V107A |
probably benign |
Het |
| Sptlc1 |
A |
T |
13: 53,505,675 (GRCm39) |
Y248N |
probably damaging |
Het |
| Stam2 |
T |
C |
2: 52,584,936 (GRCm39) |
T453A |
probably benign |
Het |
| Tango2 |
G |
T |
16: 18,128,762 (GRCm39) |
N77K |
probably damaging |
Het |
| Tas2r121 |
A |
T |
6: 132,677,831 (GRCm39) |
I47N |
probably damaging |
Het |
| Terb1 |
A |
T |
8: 105,179,347 (GRCm39) |
C614S |
probably damaging |
Het |
| Terb1 |
T |
C |
8: 105,199,369 (GRCm39) |
N525S |
probably benign |
Het |
| Ttc6 |
A |
G |
12: 57,719,904 (GRCm39) |
D825G |
possibly damaging |
Het |
| U90926 |
A |
T |
5: 92,357,838 (GRCm39) |
H104Q |
probably benign |
Het |
| Zfand4 |
G |
A |
6: 116,291,742 (GRCm39) |
A559T |
possibly damaging |
Het |
| Zfp462 |
T |
C |
4: 55,009,524 (GRCm39) |
S497P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATGCTTGAAGTCCGTGCTG -3'
(R):5'- AGACTTCATCCTGTGCCTGC -3'
Sequencing Primer
(F):5'- CTTGAAGTCCGTGCTGGTCAC -3'
(R):5'- ATCCTGTGCCTGCCACCAAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation