Mutagenetix > Incidental Mutation

Incidental Mutation 'R6349:Pah'

512449

Institutional Source

Beutler Lab

Gene Symbol

Pah

Ensembl Gene

ENSMUSG00000020051

Gene Name

phenylalanine hydroxylase

Synonyms

MMRRC Submission

044503-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6349 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87357657-87419998 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87414831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 394 (D394E)

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: D394E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000020241
Gene: ENSMUSG00000020051
AA Change: D394E

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: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.6%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012A03Rik	A	G	6: 32,028,595 (GRCm39)	Y9C	probably benign	Het
4930433I11Rik	A	C	7: 40,644,196 (GRCm39)	M622L	possibly damaging	Het
Abca8b	C	T	11: 109,825,544 (GRCm39)		probably null	Het
Adam28	T	C	14: 68,870,621 (GRCm39)	I351V	probably benign	Het
Adgrd1	A	C	5: 129,219,603 (GRCm39)		probably null	Het
Ank3	T	A	10: 69,815,269 (GRCm39)	I473N	probably damaging	Het
Ankrd6	A	T	4: 32,822,231 (GRCm39)	H179Q	probably damaging	Het
Ano6	A	G	15: 95,863,903 (GRCm39)	R808G	probably damaging	Het
Anxa8	A	T	14: 33,819,850 (GRCm39)	I280F	probably damaging	Het
Asb2	C	T	12: 103,312,118 (GRCm39)	M1I	probably null	Het
Astn1	C	T	1: 158,491,691 (GRCm39)	Q1023*	probably null	Het
Cast	T	A	13: 74,869,314 (GRCm39)	E542D	probably damaging	Het
Ccdc162	C	T	10: 41,570,396 (GRCm39)	E30K	probably damaging	Het
Ccdc87	T	C	19: 4,891,347 (GRCm39)	V613A	probably damaging	Het
Cdk13	T	C	13: 17,926,304 (GRCm39)	N832S	probably damaging	Het
Celsr1	T	A	15: 85,915,885 (GRCm39)	N696I	probably damaging	Het
Chd3	T	C	11: 69,254,857 (GRCm39)	E161G	possibly damaging	Het
Cxcr4	C	A	1: 128,517,014 (GRCm39)	V216F	possibly damaging	Het
Cyp4a10	A	G	4: 115,382,555 (GRCm39)	I282V	probably benign	Het
Deaf1	T	C	7: 140,902,863 (GRCm39)	T154A	possibly damaging	Het
Dido1	A	T	2: 180,302,494 (GRCm39)	D1803E	probably benign	Het
Dmxl2	T	C	9: 54,327,193 (GRCm39)	D944G	possibly damaging	Het
Dnah5	G	A	15: 28,238,657 (GRCm39)	V400M	probably damaging	Het
Fbxo15	A	G	18: 84,982,267 (GRCm39)	I240V	probably benign	Het
Fcrl2	A	G	3: 87,159,803 (GRCm39)	C484R	probably damaging	Het
Fech	G	T	18: 64,603,856 (GRCm39)	Y164*	probably null	Het
Fer1l5	T	A	1: 36,450,355 (GRCm39)	W1175R	probably damaging	Het
Fgfrl1	T	C	5: 108,853,372 (GRCm39)	Y241H	probably damaging	Het
Flvcr2	T	C	12: 85,793,974 (GRCm39)	Y117H	probably benign	Het
Fsip2	T	A	2: 82,823,416 (GRCm39)	M6383K	probably benign	Het
Gcc2	T	A	10: 58,105,296 (GRCm39)	D141E	probably benign	Het
Glt1d1	A	C	5: 127,783,950 (GRCm39)	R301S	probably benign	Het
Hars1	G	C	18: 36,916,107 (GRCm39)	A16G	probably benign	Het
Hmcn2	G	T	2: 31,278,385 (GRCm39)	G1696C	probably damaging	Het
Hydin	T	A	8: 111,145,091 (GRCm39)	L814*	probably null	Het
Izumo4	T	A	10: 80,538,551 (GRCm39)	M1K	probably null	Het
Kdm5d	T	A	Y: 916,847 (GRCm39)	M414K	probably damaging	Homo
Kif21b	G	A	1: 136,086,064 (GRCm39)	V812I	probably damaging	Het
Map3k7	A	G	4: 31,988,661 (GRCm39)	D270G	possibly damaging	Het
Mical3	A	G	6: 120,936,486 (GRCm39)	S1347P	probably benign	Het
Mras	T	A	9: 99,276,669 (GRCm39)	D67V	probably damaging	Het
Mtnr1b	A	T	9: 15,774,509 (GRCm39)	Y183*	probably null	Het
Muc16	A	T	9: 18,568,625 (GRCm39)	L1298Q	unknown	Het
Myh2	A	T	11: 67,083,829 (GRCm39)	I1536F	probably benign	Het
Or7c19	T	C	8: 85,957,787 (GRCm39)	I221T	possibly damaging	Het
Osmr	G	T	15: 6,850,544 (GRCm39)	D686E	probably benign	Het
Pla1a	T	A	16: 38,237,486 (GRCm39)	S71C	probably benign	Het
Proc	T	A	18: 32,266,486 (GRCm39)	I114L	probably benign	Het
Psd	T	G	19: 46,301,826 (GRCm39)		probably null	Het
Psmb6	C	T	11: 70,418,364 (GRCm39)	Q226*	probably null	Het
Rnpepl1	A	T	1: 92,847,563 (GRCm39)	N717Y	probably damaging	Het
Rundc1	T	C	11: 101,324,988 (GRCm39)	S565P	probably benign	Het
Serpinb5	T	A	1: 106,809,495 (GRCm39)	S300R	probably benign	Het
Serpinf2	T	C	11: 75,323,257 (GRCm39)	D483G	probably damaging	Het
Sgsm3	T	C	15: 80,892,547 (GRCm39)	I291T	probably benign	Het
Smg6	T	A	11: 74,944,600 (GRCm39)	D116E	possibly damaging	Het
Srfbp1	G	T	18: 52,622,034 (GRCm39)	S365I	probably benign	Het
Stkld1	A	G	2: 26,835,872 (GRCm39)	T236A	probably benign	Het
Susd5	T	C	9: 113,924,870 (GRCm39)	V251A	probably benign	Het
Tcf25	A	G	8: 124,118,332 (GRCm39)	Y314C	probably damaging	Het
Tmem210	A	G	2: 25,179,048 (GRCm39)	D112G	possibly damaging	Het
Tubb2b	A	G	13: 34,311,528 (GRCm39)	Y422H	probably damaging	Het
Tyw1	T	C	5: 130,305,872 (GRCm39)	S332P	possibly damaging	Het
Vmn1r29	A	C	6: 58,284,412 (GRCm39)	Q44P	probably damaging	Het
Vrtn	T	C	12: 84,695,792 (GRCm39)	S181P	probably damaging	Het
Wdr76	T	A	2: 121,364,712 (GRCm39)	Y437N	possibly damaging	Het
Zc3h18	C	A	8: 123,135,025 (GRCm39)		probably benign	Het
Zfp287	G	T	11: 62,616,168 (GRCm39)	D174E	probably damaging	Het
Zfp800	A	T	6: 28,244,601 (GRCm39)	Y121*	probably null	Het
Zfyve19	T	A	2: 119,041,078 (GRCm39)	L57Q	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
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'- AGCTTCGCAGGTGGACTATG -3'
(R):5'- ACAGGAGGACTTTGTATCTGTG -3'

Sequencing Primer
(F):5'- CTTCGCAGGTGGACTATGAAATGC -3'
(R):5'- AAGAGTTTCTGAATTTAAGCTGGG -3'

Posted On

2018-04-27