Incidental Mutation 'R6210:Pah'
| ID |
503413 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pah
|
| Ensembl Gene |
ENSMUSG00000020051 |
| Gene Name |
phenylalanine hydroxylase |
| Synonyms |
|
| MMRRC Submission |
044344-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6210 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
87357657-87419998 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 87419423 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 449
(Q449K)
|
| 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: Q449K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000020241
Gene: ENSMUSG00000020051
AA Change: Q449K
| 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 |
unknown
Transcript: ENSMUST00000218573
AA Change: Q112K
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000219813
AA Change: Q77K
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
95% (52/55) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd3 |
T |
A |
18: 10,706,032 (GRCm39) |
I94F |
probably damaging |
Het |
| Bbox1 |
A |
T |
2: 110,100,422 (GRCm39) |
D258E |
probably benign |
Het |
| Catsperb |
A |
G |
12: 101,378,827 (GRCm39) |
|
probably null |
Het |
| Ccdc127 |
T |
C |
13: 74,505,040 (GRCm39) |
V196A |
probably benign |
Het |
| Cd101 |
A |
T |
3: 100,925,959 (GRCm39) |
D253E |
probably damaging |
Het |
| Ceacam15 |
T |
C |
7: 16,407,214 (GRCm39) |
Y101C |
probably damaging |
Het |
| Cep135 |
C |
T |
5: 76,772,570 (GRCm39) |
L652F |
probably benign |
Het |
| Col5a1 |
G |
T |
2: 27,922,633 (GRCm39) |
V234L |
probably benign |
Het |
| Cxcr6 |
T |
C |
9: 123,639,073 (GRCm39) |
S25P |
possibly damaging |
Het |
| Dctn4 |
C |
T |
18: 60,679,865 (GRCm39) |
Q258* |
probably null |
Het |
| Fmnl2 |
A |
T |
2: 53,020,457 (GRCm39) |
N1067I |
possibly damaging |
Het |
| Frrs1 |
A |
T |
3: 116,672,080 (GRCm39) |
K59N |
probably benign |
Het |
| Gpr157 |
T |
C |
4: 150,186,055 (GRCm39) |
Y206H |
probably damaging |
Het |
| Hephl1 |
A |
G |
9: 15,001,860 (GRCm39) |
Y161H |
possibly damaging |
Het |
| Hinfp |
C |
T |
9: 44,210,169 (GRCm39) |
|
probably null |
Het |
| Igf2r |
A |
T |
17: 12,933,838 (GRCm39) |
N805K |
probably damaging |
Het |
| Ilrun |
A |
T |
17: 27,986,960 (GRCm39) |
D255E |
probably benign |
Het |
| Itga3 |
T |
C |
11: 94,959,717 (GRCm39) |
|
probably benign |
Het |
| Itga6 |
A |
G |
2: 71,664,351 (GRCm39) |
|
probably null |
Het |
| Kcnip1 |
G |
A |
11: 33,595,600 (GRCm39) |
T30I |
possibly damaging |
Het |
| Lig4 |
T |
C |
8: 10,021,585 (GRCm39) |
T732A |
probably benign |
Het |
| Lmod3 |
T |
A |
6: 97,224,262 (GRCm39) |
T520S |
probably damaging |
Het |
| Megf8 |
G |
A |
7: 25,043,145 (GRCm39) |
V1356I |
possibly damaging |
Het |
| Mical3 |
C |
T |
6: 121,017,478 (GRCm39) |
|
probably null |
Het |
| Msi1 |
T |
C |
5: 115,573,535 (GRCm39) |
I8T |
probably damaging |
Het |
| Mug4-ps |
A |
T |
6: 121,927,276 (GRCm39) |
|
noncoding transcript |
Het |
| Myo1f |
T |
A |
17: 33,820,044 (GRCm39) |
I783N |
probably damaging |
Het |
| Nr6a1 |
A |
C |
2: 38,619,509 (GRCm39) |
I462S |
probably damaging |
Het |
| Or2t48 |
C |
T |
11: 58,420,090 (GRCm39) |
A241T |
probably damaging |
Het |
| Or8k23 |
A |
G |
2: 86,186,702 (GRCm39) |
V8A |
probably benign |
Het |
| Pced1a |
A |
G |
2: 130,263,839 (GRCm39) |
V271A |
probably damaging |
Het |
| Pdzrn4 |
A |
T |
15: 92,655,562 (GRCm39) |
E485V |
probably damaging |
Het |
| Psg21 |
A |
G |
7: 18,386,270 (GRCm39) |
Y239H |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 162,109,949 (GRCm39) |
Y180C |
probably damaging |
Het |
| Raet1d |
T |
A |
10: 22,246,849 (GRCm39) |
I59N |
probably damaging |
Het |
| Rfx1 |
T |
C |
8: 84,819,647 (GRCm39) |
L653P |
probably damaging |
Het |
| Rnase2a |
A |
G |
14: 51,493,131 (GRCm39) |
V78A |
possibly damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
| Serbp1 |
T |
C |
6: 67,249,851 (GRCm39) |
|
probably benign |
Het |
| Tlr1 |
A |
T |
5: 65,082,629 (GRCm39) |
H649Q |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trpc6 |
T |
A |
9: 8,656,731 (GRCm39) |
D719E |
probably benign |
Het |
| Ttc21b |
A |
T |
2: 66,066,698 (GRCm39) |
S318R |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
| Uhmk1 |
T |
C |
1: 170,039,806 (GRCm39) |
Q187R |
probably damaging |
Het |
| Ung |
C |
T |
5: 114,269,438 (GRCm39) |
A50V |
probably benign |
Het |
| Upk3bl |
C |
T |
5: 136,088,674 (GRCm39) |
Q103* |
probably null |
Het |
| Usp17le |
C |
A |
7: 104,418,350 (GRCm39) |
C264F |
probably damaging |
Het |
| Vmn2r105 |
T |
A |
17: 20,448,758 (GRCm39) |
N140Y |
probably damaging |
Het |
| Vmn2r84 |
C |
T |
10: 130,222,114 (GRCm39) |
C702Y |
probably damaging |
Het |
| Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
| Zfp748 |
G |
A |
13: 67,688,923 (GRCm39) |
P779L |
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 |
|
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'- TTACACACAGCAGAACAGGG -3'
(R):5'- TGACTCTGAAGGATCTACCACTG -3'
Sequencing Primer
(F):5'- CAGAACAGGGCTAGTATAGTCTTC -3'
(R):5'- AATTGATTTATTTGGTGATCCTCCAC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation