Incidental Mutation 'R9589:Pah'
| ID |
722938 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pah
|
| Ensembl Gene |
ENSMUSG00000020051 |
| Gene Name |
phenylalanine hydroxylase |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9589 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
87357657-87419998 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87403197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 191
(F191I)
|
| 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: F191I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020241
Gene: ENSMUSG00000020051
AA Change: F191I
| 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: ENSMUST00000217864
AA Change: F88I
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218573
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219813
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg3 |
A |
G |
8: 95,760,093 (GRCm39) |
D104G |
possibly damaging |
Het |
| Ahnak2 |
G |
T |
12: 112,746,831 (GRCm39) |
D1166E |
|
Het |
| C2cd3 |
T |
A |
7: 100,081,756 (GRCm39) |
S1133T |
|
Het |
| Ccdc17 |
A |
G |
4: 116,454,791 (GRCm39) |
Q168R |
probably benign |
Het |
| Fn1 |
A |
T |
1: 71,668,941 (GRCm39) |
I668N |
probably damaging |
Het |
| Fyb2 |
C |
A |
4: 104,872,833 (GRCm39) |
N735K |
probably damaging |
Het |
| Gad1 |
T |
C |
2: 70,416,284 (GRCm39) |
S248P |
possibly damaging |
Het |
| Gcnt1 |
G |
A |
19: 17,307,422 (GRCm39) |
A101V |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,372,840 (GRCm39) |
M3132K |
possibly damaging |
Het |
| Htra3 |
T |
C |
5: 35,821,409 (GRCm39) |
I323V |
probably damaging |
Het |
| Ighv11-2 |
A |
T |
12: 114,012,047 (GRCm39) |
V56D |
probably damaging |
Het |
| Itga8 |
C |
T |
2: 12,237,701 (GRCm39) |
G340R |
probably damaging |
Het |
| Kcnk15 |
C |
T |
2: 163,700,127 (GRCm39) |
T122M |
probably damaging |
Het |
| Kif13a |
G |
T |
13: 46,956,020 (GRCm39) |
Q658K |
probably benign |
Het |
| Kif13b |
T |
C |
14: 65,013,759 (GRCm39) |
I1303T |
possibly damaging |
Het |
| Kifc3 |
A |
T |
8: 95,861,372 (GRCm39) |
S94R |
possibly damaging |
Het |
| Lrrc63 |
A |
T |
14: 75,322,379 (GRCm39) |
F575Y |
possibly damaging |
Het |
| Map1a |
T |
C |
2: 121,136,398 (GRCm39) |
S2405P |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,449,753 (GRCm39) |
T159A |
probably benign |
Het |
| Mgam |
A |
T |
6: 40,727,519 (GRCm39) |
I1315F |
probably damaging |
Het |
| Or51a39 |
T |
C |
7: 102,363,372 (GRCm39) |
T83A |
probably damaging |
Het |
| Plekhh2 |
G |
A |
17: 84,854,918 (GRCm39) |
D51N |
possibly damaging |
Het |
| Ppp4r2 |
C |
T |
6: 100,838,409 (GRCm39) |
T109M |
probably damaging |
Het |
| Rfx7 |
T |
C |
9: 72,525,122 (GRCm39) |
S771P |
possibly damaging |
Het |
| Sec11a |
T |
C |
7: 80,565,899 (GRCm39) |
*171W |
probably null |
Het |
| Secisbp2l |
C |
A |
2: 125,589,425 (GRCm39) |
V708L |
probably benign |
Het |
| Secisbp2l |
T |
G |
2: 125,589,430 (GRCm39) |
D706A |
probably damaging |
Het |
| Shpk |
C |
T |
11: 73,104,267 (GRCm39) |
P139S |
possibly damaging |
Het |
| Slc6a18 |
A |
G |
13: 73,816,323 (GRCm39) |
L352P |
possibly damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,957,981 (GRCm39) |
T264A |
probably benign |
Het |
| Smg9 |
T |
G |
7: 24,120,246 (GRCm39) |
S407A |
probably damaging |
Het |
| Stmn4 |
A |
G |
14: 66,595,338 (GRCm39) |
E121G |
probably damaging |
Het |
| Tmem237 |
G |
A |
1: 59,159,146 (GRCm39) |
P10S |
probably benign |
Het |
| Vmn2r73 |
A |
G |
7: 85,519,659 (GRCm39) |
I433T |
probably benign |
Het |
| Zfp28 |
T |
A |
7: 6,392,816 (GRCm39) |
M164K |
probably benign |
Het |
| Zswim8 |
A |
G |
14: 20,763,171 (GRCm39) |
M357V |
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 |
|
|
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 |
|
Z1088:Pah
|
UTSW |
10 |
87,407,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATGCTTGAAGTCCGTGCTG -3'
(R):5'- AGTCTCACAACAGGTTCTATTTACC -3'
Sequencing Primer
(F):5'- CTTGAAGTCCGTGCTGGTCAC -3'
(R):5'- ACAACAGGTTCTATTTACCCCCTC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation