Incidental Mutation 'R6345:Pah'
ID |
514114 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pah
|
Ensembl Gene |
ENSMUSG00000020051 |
Gene Name |
phenylalanine hydroxylase |
Synonyms |
|
MMRRC Submission |
044499-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6345 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
87357657-87419998 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 87412049 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 315
(D315N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020241
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020241]
[ENSMUST00000219813]
|
AlphaFold |
P16331 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020241
AA Change: D315N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020241 Gene: ENSMUSG00000020051 AA Change: D315N
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 benign
Transcript: ENSMUST00000218573
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219813
|
Meta Mutation Damage Score |
0.9347 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
Validation Efficiency |
100% (61/61) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
T |
C |
10: 87,061,913 (GRCm39) |
I121T |
probably benign |
Het |
4921524L21Rik |
T |
A |
18: 6,626,399 (GRCm39) |
M137K |
possibly damaging |
Het |
Angpt4 |
C |
A |
2: 151,771,354 (GRCm39) |
N223K |
probably benign |
Het |
Ankrd6 |
T |
C |
4: 32,810,266 (GRCm39) |
R437G |
probably damaging |
Het |
Atp9a |
C |
T |
2: 168,518,093 (GRCm39) |
S264N |
probably damaging |
Het |
AY358078 |
A |
C |
14: 52,063,749 (GRCm39) |
Y465S |
probably damaging |
Het |
Bin3 |
G |
A |
14: 70,374,676 (GRCm39) |
R235Q |
probably benign |
Het |
Bsn |
G |
A |
9: 107,984,554 (GRCm39) |
P3167S |
unknown |
Het |
Camk2g |
G |
A |
14: 20,787,443 (GRCm39) |
R274C |
probably damaging |
Het |
Ccdc61 |
A |
T |
7: 18,643,914 (GRCm39) |
|
probably null |
Het |
Ccnjl |
A |
T |
11: 43,476,165 (GRCm39) |
T263S |
probably benign |
Het |
Col17a1 |
G |
T |
19: 47,641,818 (GRCm39) |
P944T |
possibly damaging |
Het |
Cyp2c39 |
A |
T |
19: 39,501,615 (GRCm39) |
|
probably null |
Het |
Cyp2c39 |
G |
T |
19: 39,501,616 (GRCm39) |
|
probably null |
Het |
Cyp4a32 |
T |
C |
4: 115,459,560 (GRCm39) |
V98A |
possibly damaging |
Het |
Dnah9 |
A |
G |
11: 65,928,519 (GRCm39) |
V2050A |
probably damaging |
Het |
F5 |
A |
G |
1: 164,019,520 (GRCm39) |
N665S |
probably benign |
Het |
Fbxl6 |
A |
T |
15: 76,420,054 (GRCm39) |
C520S |
probably damaging |
Het |
Fscn2 |
C |
A |
11: 120,252,853 (GRCm39) |
H107N |
probably damaging |
Het |
Gfm2 |
C |
T |
13: 97,299,461 (GRCm39) |
T367M |
probably damaging |
Het |
Gle1 |
C |
G |
2: 29,826,127 (GRCm39) |
P69A |
probably benign |
Het |
Gpr156 |
A |
T |
16: 37,807,881 (GRCm39) |
D176V |
probably damaging |
Het |
Grip2 |
A |
G |
6: 91,742,369 (GRCm39) |
S895P |
possibly damaging |
Het |
Hfm1 |
C |
T |
5: 106,989,504 (GRCm39) |
G1404D |
probably benign |
Het |
Ifit1bl1 |
G |
A |
19: 34,571,570 (GRCm39) |
R296* |
probably null |
Het |
Ighv1-39 |
C |
T |
12: 114,878,479 (GRCm39) |
V31M |
possibly damaging |
Het |
Itgav |
A |
G |
2: 83,632,380 (GRCm39) |
E956G |
probably damaging |
Het |
Katnip |
C |
A |
7: 125,352,159 (GRCm39) |
D26E |
probably damaging |
Het |
Lsm8 |
A |
G |
6: 18,853,644 (GRCm39) |
D86G |
probably damaging |
Het |
Mdh1b |
T |
G |
1: 63,754,398 (GRCm39) |
H390P |
possibly damaging |
Het |
Mtrf1l |
A |
T |
10: 5,767,468 (GRCm39) |
I216N |
possibly damaging |
Het |
Muc16 |
G |
A |
9: 18,566,222 (GRCm39) |
T2099I |
unknown |
Het |
Myh7 |
T |
C |
14: 55,221,149 (GRCm39) |
R925G |
probably damaging |
Het |
Myo1h |
T |
A |
5: 114,489,769 (GRCm39) |
I658N |
probably damaging |
Het |
Myo5a |
A |
T |
9: 75,097,195 (GRCm39) |
D81V |
possibly damaging |
Het |
Nell1 |
G |
A |
7: 49,625,171 (GRCm39) |
C12Y |
possibly damaging |
Het |
Obscn |
T |
C |
11: 58,944,522 (GRCm39) |
Y4724C |
probably damaging |
Het |
Or8k53 |
A |
G |
2: 86,177,892 (GRCm39) |
Y73H |
probably damaging |
Het |
Per2 |
A |
G |
1: 91,376,444 (GRCm39) |
V143A |
probably damaging |
Het |
Plcxd1 |
T |
C |
5: 110,248,165 (GRCm39) |
V38A |
probably benign |
Het |
Pld1 |
A |
G |
3: 28,184,896 (GRCm39) |
|
probably benign |
Het |
Plekhh2 |
A |
G |
17: 84,883,215 (GRCm39) |
N761S |
probably benign |
Het |
Polh |
T |
C |
17: 46,493,664 (GRCm39) |
I318V |
probably benign |
Het |
Prex1 |
T |
C |
2: 166,414,880 (GRCm39) |
Q1323R |
probably null |
Het |
Rb1cc1 |
T |
A |
1: 6,333,481 (GRCm39) |
S1440T |
probably benign |
Het |
Rbm19 |
G |
T |
5: 120,265,105 (GRCm39) |
W382L |
possibly damaging |
Het |
Rchy1 |
T |
C |
5: 92,105,801 (GRCm39) |
D49G |
probably benign |
Het |
Ric1 |
A |
G |
19: 29,581,485 (GRCm39) |
D1402G |
probably benign |
Het |
S1pr3 |
G |
T |
13: 51,573,067 (GRCm39) |
A83S |
probably damaging |
Het |
S1pr3 |
C |
A |
13: 51,573,068 (GRCm39) |
A83D |
probably damaging |
Het |
Selplg |
G |
A |
5: 113,958,210 (GRCm39) |
P32L |
probably benign |
Het |
Serpinb9c |
T |
C |
13: 33,333,978 (GRCm39) |
R355G |
probably damaging |
Het |
Slx4 |
G |
C |
16: 3,808,714 (GRCm39) |
Q409E |
probably benign |
Het |
Sntg1 |
A |
C |
1: 8,653,508 (GRCm39) |
L243R |
possibly damaging |
Het |
Specc1l |
G |
T |
10: 75,084,322 (GRCm39) |
D682Y |
probably damaging |
Het |
Spen |
C |
T |
4: 141,198,944 (GRCm39) |
V3228I |
possibly damaging |
Het |
Strip1 |
T |
C |
3: 107,535,516 (GRCm39) |
E69G |
probably damaging |
Het |
Tasp1 |
C |
A |
2: 139,793,457 (GRCm39) |
V240L |
probably damaging |
Het |
Tdrd9 |
T |
A |
12: 112,001,042 (GRCm39) |
F787L |
probably damaging |
Het |
Vmn1r228 |
A |
G |
17: 20,997,144 (GRCm39) |
S125P |
probably damaging |
Het |
Wdhd1 |
A |
G |
14: 47,489,379 (GRCm39) |
M718T |
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 |
|
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 |
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 |
|
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'- GGACAGATGTCTAACAATATTCAGGG -3'
(R):5'- TGAGAATATCCACATGCAAGCTG -3'
Sequencing Primer
(F):5'- GTCTATCTGGACCCTTCAGAAG -3'
(R):5'- GCAAGCTGATATAAAAGTCAGTCC -3'
|
Posted On |
2018-04-27 |