Incidental Mutation 'R8684:Pah'
| ID |
661952 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pah
|
| Ensembl Gene |
ENSMUSG00000020051 |
| Gene Name |
phenylalanine hydroxylase |
| Synonyms |
|
| MMRRC Submission |
068539-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8684 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
87357657-87419998 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87414827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 393
(N393S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020241
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020241]
[ENSMUST00000219813]
|
| AlphaFold |
P16331 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020241
AA Change: N393S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020241
Gene: ENSMUSG00000020051
AA Change: N393S
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (47/47) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933421I07Rik |
C |
T |
7: 42,097,413 (GRCm39) |
R27H |
probably benign |
Het |
| Abca2 |
T |
A |
2: 25,336,508 (GRCm39) |
L2229Q |
possibly damaging |
Het |
| Adamts4 |
A |
T |
1: 171,086,541 (GRCm39) |
T778S |
probably damaging |
Het |
| AY358078 |
T |
G |
14: 52,059,597 (GRCm39) |
Y311* |
probably null |
Het |
| Catsperg1 |
C |
T |
7: 28,897,825 (GRCm39) |
V181M |
probably damaging |
Het |
| Cdcp3 |
C |
A |
7: 130,837,688 (GRCm39) |
S528* |
probably null |
Het |
| Cep70 |
A |
G |
9: 99,145,842 (GRCm39) |
K170E |
possibly damaging |
Het |
| Coro1b |
T |
A |
19: 4,199,527 (GRCm39) |
V62E |
probably damaging |
Het |
| Dnajc11 |
T |
C |
4: 152,065,183 (GRCm39) |
*560Q |
probably null |
Het |
| Eci3 |
T |
C |
13: 35,143,874 (GRCm39) |
N84D |
probably damaging |
Het |
| F5 |
T |
A |
1: 164,045,111 (GRCm39) |
V2133E |
probably benign |
Het |
| Fancl |
C |
A |
11: 26,420,826 (GRCm39) |
P116Q |
|
Het |
| Gm10801 |
ATTTTCAGTTTTCTTGCCATATTCCACGTCCTGCACTGGACATTTCTAAATTTTCCACCTTTTTCAGTTTTC |
ATTTTCAGTTTTC |
2: 98,492,669 (GRCm39) |
|
probably null |
Het |
| Golgb1 |
C |
T |
16: 36,734,764 (GRCm39) |
T1378M |
possibly damaging |
Het |
| Hdac5 |
T |
C |
11: 102,096,147 (GRCm39) |
N342S |
probably benign |
Het |
| Herc3 |
A |
G |
6: 58,864,561 (GRCm39) |
K732E |
probably damaging |
Het |
| Lce1e |
A |
T |
3: 92,615,269 (GRCm39) |
I26N |
unknown |
Het |
| Lingo1 |
T |
C |
9: 56,528,106 (GRCm39) |
Y167C |
probably damaging |
Het |
| Loxl3 |
A |
G |
6: 83,012,566 (GRCm39) |
E35G |
probably benign |
Het |
| Mmp13 |
A |
G |
9: 7,282,089 (GRCm39) |
M464V |
possibly damaging |
Het |
| Mov10 |
T |
C |
3: 104,711,690 (GRCm39) |
H199R |
probably benign |
Het |
| Nbas |
A |
G |
12: 13,386,368 (GRCm39) |
T765A |
probably damaging |
Het |
| Nlgn3 |
C |
T |
X: 100,363,425 (GRCm39) |
R679* |
probably null |
Het |
| Nrp1 |
C |
T |
8: 129,085,885 (GRCm39) |
|
probably benign |
Het |
| Nup88 |
C |
A |
11: 70,860,687 (GRCm39) |
V31L |
probably benign |
Het |
| Or2r11 |
T |
C |
6: 42,437,827 (GRCm39) |
N42S |
probably damaging |
Het |
| Or5d39 |
T |
C |
2: 87,979,872 (GRCm39) |
T164A |
probably benign |
Het |
| Or7a36 |
A |
T |
10: 78,820,212 (GRCm39) |
D196V |
probably benign |
Het |
| Peli3 |
T |
C |
19: 4,985,022 (GRCm39) |
Y163C |
probably damaging |
Het |
| Rasgef1b |
A |
T |
5: 99,524,994 (GRCm39) |
M55K |
probably benign |
Het |
| Ror2 |
T |
C |
13: 53,264,302 (GRCm39) |
D930G |
possibly damaging |
Het |
| Rpgrip1l |
T |
G |
8: 92,000,329 (GRCm39) |
M537L |
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,702,875 (GRCm39) |
V2871E |
probably damaging |
Het |
| Smco1 |
A |
T |
16: 32,092,841 (GRCm39) |
N171Y |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Sox2 |
T |
A |
3: 34,705,016 (GRCm39) |
L151Q |
probably benign |
Het |
| Spink5 |
A |
G |
18: 44,143,305 (GRCm39) |
E754G |
probably benign |
Het |
| Sulf1 |
A |
T |
1: 12,867,004 (GRCm39) |
M63L |
probably benign |
Het |
| Traf2 |
A |
G |
2: 25,410,458 (GRCm39) |
M390T |
probably damaging |
Het |
| Trav13d-4 |
T |
C |
14: 53,310,266 (GRCm39) |
V16A |
probably damaging |
Het |
| Trmo |
C |
T |
4: 46,386,251 (GRCm39) |
W84* |
probably null |
Het |
| Trmo |
T |
C |
4: 46,386,253 (GRCm39) |
|
probably null |
Het |
| Ttyh1 |
T |
A |
7: 4,133,791 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,643,220 (GRCm39) |
N4194S |
possibly damaging |
Het |
| Vmn2r45 |
T |
C |
7: 8,486,511 (GRCm39) |
Y259C |
probably damaging |
Het |
| Vmn2r94 |
T |
A |
17: 18,497,912 (GRCm39) |
|
probably benign |
Het |
| Zfp101 |
A |
G |
17: 33,600,977 (GRCm39) |
S260P |
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 |
|
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 |
|
|
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'- CAGGTGGACTATGAAATGCATG -3'
(R):5'- TCTGCACACAGGAGGACTTTG -3'
Sequencing Primer
(F):5'- CATGAGAGAATGCGGGCTTAACTG -3'
(R):5'- CACACAGGAGGACTTTGTATCTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation