Mutagenetix > Incidental Mutation

Incidental Mutation 'R0239:Pah'

500161

Institutional Source

Beutler Lab

Gene Symbol

Pah

Ensembl Gene

ENSMUSG00000020051

Gene Name

phenylalanine hydroxylase

Synonyms

MMRRC Submission

038477-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0239 (G1)

Quality Score

225

Status

Not 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: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.9%

Validation Efficiency

100% (3/3)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	TTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCC	3: 137,771,595 (GRCm39)		probably benign	Het
Adra1d	C	A	2: 131,388,134 (GRCm39)	V474F	probably benign	Het
Alg8	A	T	7: 97,032,891 (GRCm39)		probably null	Het
Ash1l	A	G	3: 88,974,529 (GRCm39)	D2618G	possibly damaging	Het
Atp6v1c2	C	A	12: 17,344,676 (GRCm39)		probably null	Het
Cacna1d	A	G	14: 29,845,453 (GRCm39)	V572A	probably benign	Het
Camta1	A	G	4: 151,228,187 (GRCm39)	W882R	probably damaging	Het
Cd72	A	G	4: 43,453,163 (GRCm39)	V91A	probably benign	Het
Cdh12	T	C	15: 21,586,493 (GRCm39)	W771R	probably damaging	Het
Cdx2	G	T	5: 147,240,097 (GRCm39)	T193K	probably damaging	Het
Cfap70	A	C	14: 20,498,673 (GRCm39)	S5A	probably benign	Het
Chmp7	A	G	14: 69,958,446 (GRCm39)	V241A	probably damaging	Het
D3Ertd751e	A	G	3: 41,708,313 (GRCm39)	Y150C	probably damaging	Het
Depdc5	T	C	5: 33,100,584 (GRCm39)	S832P	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
Elp1	C	A	4: 56,784,596 (GRCm39)	V466L	probably benign	Het
Espnl	T	C	1: 91,250,009 (GRCm39)	V52A	probably damaging	Het
Flcn	T	C	11: 59,691,902 (GRCm39)	N249S	probably benign	Het
Gemin6	C	A	17: 80,533,139 (GRCm39)	A24D	probably damaging	Het
Gm5773	A	G	3: 93,681,339 (GRCm39)	H337R	probably benign	Het
Hal	T	C	10: 93,339,344 (GRCm39)	S478P	possibly damaging	Het
Hectd1	T	A	12: 51,816,101 (GRCm39)	M1324L	possibly damaging	Het
Hyal5	T	A	6: 24,876,343 (GRCm39)	L72Q	probably damaging	Het
Ift140	C	A	17: 25,264,497 (GRCm39)	C557*	probably null	Het
Kbtbd3	G	T	9: 4,330,144 (GRCm39)	V173L	possibly damaging	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
Mettl25	C	T	10: 105,662,386 (GRCm39)	V195I	probably damaging	Het
Myh8	A	G	11: 67,192,518 (GRCm39)	T1466A	probably benign	Het
Myo3b	T	A	2: 69,935,769 (GRCm39)	C61S	probably benign	Het
Nacc2	T	G	2: 25,952,273 (GRCm39)	N361T	probably damaging	Het
Nf1	A	T	11: 79,309,400 (GRCm39)	K438M	possibly damaging	Het
Nipal4	A	G	11: 46,041,268 (GRCm39)	V309A	possibly damaging	Het
Nomo1	T	C	7: 45,729,018 (GRCm39)		probably null	Het
Nubp2	T	C	17: 25,103,445 (GRCm39)	E144G	probably damaging	Het
Nwd2	A	T	5: 63,957,467 (GRCm39)	I266F	probably benign	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
Orc1	T	C	4: 108,452,843 (GRCm39)		probably null	Het
Otogl	T	A	10: 107,642,557 (GRCm39)	N1291I	probably damaging	Het
Pga5	A	G	19: 10,646,817 (GRCm39)	Y305H	probably damaging	Het
Plekha4	A	G	7: 45,181,782 (GRCm39)	H62R	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
Ptk2	A	T	15: 73,215,132 (GRCm39)		probably null	Het
Raet1e	C	A	10: 22,056,761 (GRCm39)	H112Q	possibly damaging	Het
Scai	T	A	2: 38,965,054 (GRCm39)	I597F	probably benign	Het
Sirpd	A	G	3: 15,361,661 (GRCm39)	L163P	probably damaging	Het
Slc35c2	C	T	2: 165,122,757 (GRCm39)	G176S	probably damaging	Het
Slc35f4	A	T	14: 49,541,713 (GRCm39)	I347N	possibly damaging	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
Tbc1d31	C	A	15: 57,804,149 (GRCm39)	T388N	probably benign	Het
Tmem63c	T	C	12: 87,122,413 (GRCm39)	W404R	probably damaging	Het
Tmem79	A	G	3: 88,240,628 (GRCm39)	S107P	probably benign	Het
Trip11	C	T	12: 101,850,987 (GRCm39)	E741K	probably damaging	Het
Trpm5	G	T	7: 142,636,695 (GRCm39)	T414N	probably damaging	Het
Tsnaxip1	T	A	8: 106,571,120 (GRCm39)	I660N	possibly damaging	Het
Ube2q2	T	C	9: 55,070,291 (GRCm39)	S78P	probably damaging	Het
Vac14	A	T	8: 111,362,007 (GRCm39)		probably null	Het
Vps51	G	T	19: 6,121,467 (GRCm39)	S185*	probably null	Het
Zfp11	C	T	5: 129,735,302 (GRCm39)	G53E	possibly damaging	Het
Zfp532	A	T	18: 65,816,056 (GRCm39)	I810F	possibly damaging	Het
Zfp599	C	T	9: 22,161,055 (GRCm39)	C370Y	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
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

Posted On

2017-12-01