Mutagenetix > Incidental Mutation

Incidental Mutation 'R0238:Pah'

59149

Institutional Source

Beutler Lab

Gene Symbol

Pah

Ensembl Gene

ENSMUSG00000020051

Gene Name

phenylalanine hydroxylase

Synonyms

MMRRC Submission

038476-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0238 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87357657-87419998 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87403143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 173 (P173S)

Ref Sequence

ENSEMBL: ENSMUSP00000020241 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020241] [ENSMUST00000217864] [ENSMUST00000219813]

AlphaFold

P16331

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020241
AA Change: P173S

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000020241
Gene: ENSMUSG00000020051
AA Change: P173S

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: ENSMUST00000133293
AA Change: P70S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000119455
Gene: ENSMUSG00000020051
AA Change: P70S

Domain	Start	End	E-Value	Type
Pfam:Biopterin_H	16	174	3.9e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217864
AA Change: P70S

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000218573

Predicted Effect

probably benign
Transcript: ENSMUST00000219813

Meta Mutation Damage Score

0.9169

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.4%
20x: 94.7%

Validation Efficiency

98% (105/107)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aar2	T	G	2: 156,392,893 (GRCm39)	V94G	probably benign	Het
Acp5	A	T	9: 22,041,218 (GRCm39)	S70T	possibly damaging	Het
Adcy1	C	G	11: 7,089,162 (GRCm39)	N525K	possibly damaging	Het
Adra1d	C	A	2: 131,388,134 (GRCm39)	V474F	probably benign	Het
Aknad1	A	G	3: 108,688,555 (GRCm39)	M628V	probably benign	Het
Alg8	A	T	7: 97,032,891 (GRCm39)		probably null	Het
Cacna1d	A	G	14: 29,845,453 (GRCm39)	V572A	probably benign	Het
Ccdc158	A	C	5: 92,809,977 (GRCm39)	M177R	probably benign	Het
Ccdc191	A	T	16: 43,767,859 (GRCm39)	R678*	probably null	Het
Cdkn2d	C	A	9: 21,202,288 (GRCm39)		probably benign	Het
Cdx2	G	T	5: 147,240,097 (GRCm39)	T193K	probably damaging	Het
Cfap44	T	A	16: 44,242,681 (GRCm39)	M695K	probably benign	Het
Cfap70	A	C	14: 20,498,673 (GRCm39)	S5A	probably benign	Het
Chd9	T	C	8: 91,659,456 (GRCm39)	S139P	probably damaging	Het
Chmp7	A	G	14: 69,958,446 (GRCm39)	V241A	probably damaging	Het
Cnga1	A	G	5: 72,762,374 (GRCm39)	I380T	probably damaging	Het
Col4a1	C	T	8: 11,268,780 (GRCm39)		probably benign	Het
Cts6	T	A	13: 61,349,633 (GRCm39)	E53D	probably damaging	Het
Cul2	A	G	18: 3,414,115 (GRCm39)		probably benign	Het
Dclk3	A	T	9: 111,311,696 (GRCm39)	N646I	probably damaging	Het
Dnhd1	A	G	7: 105,370,738 (GRCm39)	S4673G	probably benign	Het
Dock4	G	T	12: 40,787,539 (GRCm39)	S818I	probably damaging	Het
Dysf	C	T	6: 84,041,461 (GRCm39)	Q156*	probably null	Het
Espnl	T	C	1: 91,250,009 (GRCm39)	V52A	probably damaging	Het
Fam163b	T	C	2: 27,002,646 (GRCm39)	N117S	probably damaging	Het
Fam89a	A	G	8: 125,467,971 (GRCm39)	Y114H	probably damaging	Het
Flcn	T	C	11: 59,691,902 (GRCm39)	N249S	probably benign	Het
Gnai1	A	G	5: 18,478,548 (GRCm39)	S206P	probably damaging	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Hal	T	C	10: 93,339,344 (GRCm39)	S478P	possibly damaging	Het
Haus3	G	A	5: 34,323,600 (GRCm39)	P337S	possibly damaging	Het
Hectd1	T	A	12: 51,816,101 (GRCm39)	M1324L	possibly damaging	Het
Hpn	G	T	7: 30,798,815 (GRCm39)		probably benign	Het
Hspa9	A	T	18: 35,079,699 (GRCm39)	Y243*	probably null	Het
Htr3a	T	C	9: 48,817,686 (GRCm39)	T96A	probably benign	Het
Ift140	C	A	17: 25,264,497 (GRCm39)	C557*	probably null	Het
Il4ra	T	C	7: 125,174,371 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,332,074 (GRCm39)		probably benign	Het
Irag2	G	A	6: 145,117,704 (GRCm39)		probably benign	Het
Jph3	A	G	8: 122,480,459 (GRCm39)	Q379R	possibly damaging	Het
Kcnb1	A	G	2: 166,946,889 (GRCm39)	V653A	probably benign	Het
Kif14	A	G	1: 136,455,131 (GRCm39)	E1551G	probably damaging	Het
Krt17	G	A	11: 100,151,704 (GRCm39)	R30*	probably null	Het
Lamb3	A	T	1: 193,003,361 (GRCm39)	D100V	probably damaging	Het
Map2	A	G	1: 66,455,265 (GRCm39)	D1385G	probably damaging	Het
Map3k21	A	G	8: 126,671,709 (GRCm39)	D999G	possibly damaging	Het
Marf1	T	C	16: 13,969,147 (GRCm39)	I109V	probably benign	Het
Mcam	T	G	9: 44,051,502 (GRCm39)		probably null	Het
Med18	T	C	4: 132,187,337 (GRCm39)	H99R	probably damaging	Het
Mettl25	C	T	10: 105,662,386 (GRCm39)	V195I	probably damaging	Het
Micu2	G	A	14: 58,154,835 (GRCm39)		probably benign	Het
Mpl	A	G	4: 118,314,060 (GRCm39)		probably benign	Het
Myh8	A	G	11: 67,192,518 (GRCm39)	T1466A	probably benign	Het
Myo1e	A	T	9: 70,249,408 (GRCm39)	I503F	possibly damaging	Het
Myo3b	T	A	2: 69,935,769 (GRCm39)	C61S	probably benign	Het
Myorg	A	T	4: 41,498,912 (GRCm39)	N239K	probably benign	Het
Nbn	T	C	4: 15,986,672 (GRCm39)		probably benign	Het
Ndufa4	C	T	6: 11,906,023 (GRCm39)	V10I	probably benign	Het
Nf1	A	T	11: 79,309,400 (GRCm39)	K438M	possibly damaging	Het
Nlrp9c	A	G	7: 26,077,437 (GRCm39)	S727P	possibly damaging	Het
Nmbr	C	T	10: 14,646,139 (GRCm39)	Q338*	probably null	Het
Nt5e	A	G	9: 88,249,385 (GRCm39)	S440G	possibly damaging	Het
Nubp2	T	C	17: 25,103,445 (GRCm39)	E144G	probably damaging	Het
Or12e7	T	C	2: 87,288,381 (GRCm39)	F291L	probably benign	Het
Or2ag1b	A	G	7: 106,288,462 (GRCm39)	Y159H	probably benign	Het
Or52s1	G	A	7: 102,861,933 (GRCm39)	V289M	possibly damaging	Het
Otogl	T	A	10: 107,642,557 (GRCm39)	N1291I	probably damaging	Het
Pa2g4	T	C	10: 128,399,511 (GRCm39)	K51R	probably benign	Het
Pcdhb12	A	G	18: 37,569,780 (GRCm39)	I309V	probably benign	Het
Pck1	T	G	2: 172,998,861 (GRCm39)	I373S	possibly damaging	Het
Pga5	A	G	19: 10,646,817 (GRCm39)	Y305H	probably damaging	Het
Plxnd1	G	T	6: 115,945,754 (GRCm39)	D906E	probably benign	Het
Ppfia4	T	C	1: 134,256,927 (GRCm39)	E98G	possibly damaging	Het
Pzp	C	T	6: 128,466,119 (GRCm39)		probably benign	Het
Rab39	G	A	9: 53,617,330 (GRCm39)	T29I	probably damaging	Het
Raet1e	C	A	10: 22,056,761 (GRCm39)	H112Q	possibly damaging	Het
Rars2	T	C	4: 34,645,838 (GRCm39)	Y252H	probably damaging	Het
Rars2	A	C	4: 34,656,030 (GRCm39)	Q421P	probably benign	Het
Rasa2	A	T	9: 96,450,460 (GRCm39)	D479E	probably damaging	Het
Rbl2	A	T	8: 91,833,135 (GRCm39)	T689S	probably damaging	Het
Rims4	C	T	2: 163,705,945 (GRCm39)	V230M	probably benign	Het
Scgb1b27	G	A	7: 33,721,377 (GRCm39)		probably benign	Het
Sec31b	G	A	19: 44,513,908 (GRCm39)		probably benign	Het
Six3	G	A	17: 85,928,818 (GRCm39)	G51R	probably damaging	Het
Skp2	A	C	15: 9,127,971 (GRCm39)		probably null	Het
Slc35f4	A	T	14: 49,541,713 (GRCm39)	I347N	possibly damaging	Het
Slc4a2	A	T	5: 24,641,272 (GRCm39)		probably null	Het
Slc52a3	T	C	2: 151,850,076 (GRCm39)	*461Q	probably null	Het
Slc6a1	G	A	6: 114,279,761 (GRCm39)	V142I	probably benign	Het
Susd5	A	G	9: 113,925,977 (GRCm39)	*620W	probably null	Het
Timm21	T	C	18: 84,965,791 (GRCm39)	N239S	probably damaging	Het
Tmem131	T	C	1: 36,867,131 (GRCm39)		probably benign	Het
Tmem63c	T	C	12: 87,122,413 (GRCm39)	W404R	probably damaging	Het
Tnrc6b	A	G	15: 80,772,065 (GRCm39)	D1118G	probably damaging	Het
Traf2	G	C	2: 25,427,138 (GRCm39)	A71G	possibly damaging	Het
Trim54	A	G	5: 31,291,463 (GRCm39)	M195V	probably benign	Het
Trip11	C	T	12: 101,850,987 (GRCm39)	E741K	probably damaging	Het
Trp73	AGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTG	4: 154,146,981 (GRCm39)		probably benign	Het
Trpm5	G	T	7: 142,636,695 (GRCm39)	T414N	probably damaging	Het
Vps51	G	T	19: 6,121,467 (GRCm39)	S185*	probably null	Het
Zfp329	G	T	7: 12,544,756 (GRCm39)	T256K	probably damaging	Het
Zfp729b	A	G	13: 67,740,022 (GRCm39)	Y748H	probably damaging	Het
Zfp777	T	C	6: 48,001,903 (GRCm39)	E773G	probably damaging	Het
Zfp866	T	C	8: 70,219,365 (GRCm39)	Y53C	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
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
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'- GCCAGGCCCCTGAAAATAAGTCTC -3'
(R):5'- GGATGTTGTCTTCACGGAAACCGC -3'

Sequencing Primer
(F):5'- gggggtcaccacaatatgag -3'
(R):5'- GGAAACCGCAGTACTTTTCCAG -3'

Posted On

2013-07-11