Incidental Mutation 'R7511:Pah'
ID |
582104 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pah
|
Ensembl Gene |
ENSMUSG00000020051 |
Gene Name |
phenylalanine hydroxylase |
Synonyms |
|
MMRRC Submission |
045584-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7511 (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 87390249 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 132
(A132T)
|
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: A132T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020241 Gene: ENSMUSG00000020051 AA Change: A132T
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 |
possibly damaging
Transcript: ENSMUST00000217864
AA Change: A29T
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218573
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219813
|
Meta Mutation Damage Score |
0.9265 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (65/65) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg3 |
A |
G |
17: 57,189,954 (GRCm39) |
K327E |
probably damaging |
Het |
Adamts14 |
G |
A |
10: 61,054,307 (GRCm39) |
A572V |
possibly damaging |
Het |
Add2 |
A |
G |
6: 86,075,597 (GRCm39) |
N249D |
probably benign |
Het |
Adgrb2 |
A |
T |
4: 129,915,904 (GRCm39) |
M1503L |
probably benign |
Het |
Alms1 |
A |
G |
6: 85,586,407 (GRCm39) |
K421E |
unknown |
Het |
B3galt5 |
A |
G |
16: 96,116,916 (GRCm39) |
K183R |
possibly damaging |
Het |
Braf |
T |
C |
6: 39,665,187 (GRCm39) |
I94M |
probably damaging |
Het |
Cacna1a |
A |
G |
8: 85,294,311 (GRCm39) |
E1158G |
possibly damaging |
Het |
Ccdc177 |
C |
A |
12: 80,804,457 (GRCm39) |
V606L |
unknown |
Het |
Ccdc38 |
C |
A |
10: 93,398,662 (GRCm39) |
L147I |
possibly damaging |
Het |
Ccdc83 |
T |
C |
7: 89,886,130 (GRCm39) |
N210D |
possibly damaging |
Het |
Cdh20 |
T |
C |
1: 109,925,583 (GRCm39) |
|
probably benign |
Het |
Coro1b |
T |
A |
19: 4,202,525 (GRCm39) |
Y338N |
probably damaging |
Het |
Crlf3 |
A |
C |
11: 79,954,812 (GRCm39) |
|
probably null |
Het |
Crnn |
A |
T |
3: 93,056,723 (GRCm39) |
K503M |
probably damaging |
Het |
Cul5 |
T |
A |
9: 53,537,269 (GRCm39) |
N521I |
probably damaging |
Het |
Cyp2c50 |
T |
A |
19: 40,080,634 (GRCm39) |
|
probably null |
Het |
Dis3 |
T |
C |
14: 99,337,042 (GRCm39) |
H23R |
possibly damaging |
Het |
Dock7 |
A |
T |
4: 98,949,519 (GRCm39) |
L441H |
|
Het |
Dock7 |
C |
A |
4: 98,967,992 (GRCm39) |
E162* |
probably null |
Het |
Dpp9 |
A |
T |
17: 56,512,611 (GRCm39) |
M174K |
possibly damaging |
Het |
Dtd1 |
A |
G |
2: 144,459,147 (GRCm39) |
D57G |
probably benign |
Het |
F3 |
A |
G |
3: 121,525,206 (GRCm39) |
E149G |
probably damaging |
Het |
Glp2r |
C |
T |
11: 67,648,417 (GRCm39) |
R95K |
probably damaging |
Het |
Gpr107 |
T |
A |
2: 31,068,358 (GRCm39) |
F273L |
probably benign |
Het |
Gria1 |
A |
T |
11: 57,174,451 (GRCm39) |
I647F |
probably damaging |
Het |
Heatr5a |
A |
C |
12: 51,926,217 (GRCm39) |
I1878S |
possibly damaging |
Het |
Hsf2 |
G |
T |
10: 57,380,653 (GRCm39) |
C230F |
probably benign |
Het |
Igfbp2 |
T |
G |
1: 72,891,164 (GRCm39) |
M254R |
probably damaging |
Het |
Kifc2 |
C |
A |
15: 76,545,537 (GRCm39) |
Q95K |
possibly damaging |
Het |
Lnx1 |
T |
G |
5: 74,780,972 (GRCm39) |
N183T |
probably benign |
Het |
Ltn1 |
G |
T |
16: 87,205,716 (GRCm39) |
T983K |
possibly damaging |
Het |
Macf1 |
A |
T |
4: 123,367,093 (GRCm39) |
V2556D |
possibly damaging |
Het |
Map4k3 |
A |
G |
17: 80,905,077 (GRCm39) |
V738A |
possibly damaging |
Het |
Mtmr12 |
T |
G |
15: 12,265,681 (GRCm39) |
Y466D |
possibly damaging |
Het |
Musk |
A |
G |
4: 58,333,672 (GRCm39) |
I256V |
probably benign |
Het |
Ociad1 |
T |
C |
5: 73,452,338 (GRCm39) |
F43S |
probably damaging |
Het |
Or10g9b |
A |
T |
9: 39,918,229 (GRCm39) |
S5R |
possibly damaging |
Het |
Or4k5 |
A |
G |
14: 50,385,713 (GRCm39) |
L206P |
probably damaging |
Het |
Pak5 |
G |
A |
2: 135,925,244 (GRCm39) |
S686F |
possibly damaging |
Het |
Pi4kb |
T |
C |
3: 94,896,623 (GRCm39) |
S307P |
probably benign |
Het |
Plxna1 |
T |
C |
6: 89,318,889 (GRCm39) |
T645A |
possibly damaging |
Het |
Pold1 |
C |
T |
7: 44,191,614 (GRCm39) |
R124K |
possibly damaging |
Het |
Pramel27 |
T |
A |
4: 143,573,116 (GRCm39) |
I3N |
possibly damaging |
Het |
Prdm10 |
T |
C |
9: 31,289,777 (GRCm39) |
Y1153H |
probably damaging |
Het |
Ptk2b |
T |
C |
14: 66,391,693 (GRCm39) |
N947S |
possibly damaging |
Het |
Rad54b |
A |
G |
4: 11,578,956 (GRCm39) |
|
probably null |
Het |
S1pr4 |
A |
G |
10: 81,335,623 (GRCm39) |
|
probably benign |
Het |
Sec23b |
A |
G |
2: 144,432,269 (GRCm39) |
K760E |
probably benign |
Het |
Sergef |
T |
A |
7: 46,264,170 (GRCm39) |
N239I |
probably damaging |
Het |
Serpinb9 |
C |
A |
13: 33,192,054 (GRCm39) |
N78K |
probably benign |
Het |
Sntb1 |
G |
T |
15: 55,511,347 (GRCm39) |
F412L |
possibly damaging |
Het |
Stradb |
T |
A |
1: 59,032,108 (GRCm39) |
F294L |
probably damaging |
Het |
Ttll11 |
G |
A |
2: 35,793,046 (GRCm39) |
R266C |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,624,882 (GRCm39) |
M15232K |
possibly damaging |
Het |
Tubgcp2 |
T |
C |
7: 139,584,793 (GRCm39) |
I547M |
probably benign |
Het |
Vgf |
C |
A |
5: 137,060,245 (GRCm39) |
P136T |
unknown |
Het |
Vmn1r36 |
T |
A |
6: 66,693,914 (GRCm39) |
|
probably benign |
Het |
Vmn2r102 |
T |
C |
17: 19,901,405 (GRCm39) |
S511P |
probably damaging |
Het |
Wdr27 |
C |
T |
17: 15,103,965 (GRCm39) |
V714I |
probably benign |
Het |
Zbed6 |
T |
A |
1: 133,586,981 (GRCm39) |
I119L |
probably benign |
Het |
Zfp229 |
A |
G |
17: 21,964,045 (GRCm39) |
S92G |
probably benign |
Het |
Zfp710 |
C |
T |
7: 79,732,250 (GRCm39) |
Q476* |
probably null |
Het |
Zfp808 |
A |
G |
13: 62,320,637 (GRCm39) |
N622S |
probably benign |
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 |
|
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 |
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'- TTTCCCAAGAAACTGGAAATGG -3'
(R):5'- GCAATGACGACAGTGAGGTC -3'
Sequencing Primer
(F):5'- GAATTTAAGAGCTATGCAGAGCCTTG -3'
(R):5'- ACGACAGTGAGGTCTCGTTAATC -3'
|
Posted On |
2019-10-17 |