Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01088:Phox2a'

51489

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phox2a

Ensembl Gene

ENSMUSG00000007946

Gene Name

paired-like homeobox 2a

Synonyms

Arix, Pmx2, Px2a, Pmx2a

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01088

Quality Score

Status

Chromosome

Chromosomal Location

101467520-101471933 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101470942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 145 (F145L)

Ref Sequence

ENSEMBL: ENSMUSP00000008090 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008090] [ENSMUST00000035836] [ENSMUST00000165052] [ENSMUST00000185929]

AlphaFold

Q62066

Predicted Effect

probably damaging
Transcript: ENSMUST00000008090
AA Change: F145L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000008090
Gene: ENSMUSG00000007946
AA Change: F145L

Domain	Start	End	E-Value	Type
low complexity region	40	51	N/A	INTRINSIC
HOX	90	152	5.75e-27	SMART
low complexity region	183	223	N/A	INTRINSIC
low complexity region	225	244	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000035836

SMART Domains

Protein: ENSMUSP00000048057
Gene: ENSMUSG00000032737

Domain	Start	End	E-Value	Type
SH2	19	108	1.21e-26	SMART
low complexity region	116	137	N/A	INTRINSIC
low complexity region	156	175	N/A	INTRINSIC
Blast:IPPc	250	349	5e-14	BLAST
IPPc	423	736	3.98e-137	SMART
low complexity region	934	957	N/A	INTRINSIC
low complexity region	997	1013	N/A	INTRINSIC
low complexity region	1036	1047	N/A	INTRINSIC
low complexity region	1049	1068	N/A	INTRINSIC
low complexity region	1089	1102	N/A	INTRINSIC
SAM	1192	1257	2.47e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165052

SMART Domains

Protein: ENSMUSP00000132883
Gene: ENSMUSG00000032737

Domain	Start	End	E-Value	Type
SH2	19	108	1.21e-26	SMART
low complexity region	116	137	N/A	INTRINSIC
low complexity region	156	175	N/A	INTRINSIC
Blast:IPPc	250	349	5e-14	BLAST
IPPc	423	736	3.98e-137	SMART
low complexity region	934	957	N/A	INTRINSIC
low complexity region	997	1013	N/A	INTRINSIC
low complexity region	1036	1047	N/A	INTRINSIC
low complexity region	1049	1068	N/A	INTRINSIC
low complexity region	1089	1102	N/A	INTRINSIC
SAM	1192	1257	2.47e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000185929

SMART Domains

Protein: ENSMUSP00000139910
Gene: ENSMUSG00000032737

Domain	Start	End	E-Value	Type
SH2	19	108	7.6e-29	SMART
low complexity region	116	137	N/A	INTRINSIC
low complexity region	156	175	N/A	INTRINSIC
Blast:IPPc	250	349	4e-14	BLAST
IPPc	423	736	1.9e-139	SMART
low complexity region	934	957	N/A	INTRINSIC
low complexity region	997	1013	N/A	INTRINSIC
low complexity region	1036	1047	N/A	INTRINSIC
low complexity region	1049	1068	N/A	INTRINSIC
low complexity region	1089	1102	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186316

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209878

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211436

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. The encoded protein plays a central role in development of the autonomic nervous system. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of the noradrenergic neurotransmitter phenotype. The encoded protein has also been shown to regulate transcription of the alpha3 nicotinic acetylcholine receptor gene. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit deficits in sensory and autonomic ganglia, lack of the locus coeruleus, and impaired migration of facial visceral motor axon. Mutants appear normal at birth but fail to nurse and die within 24 hours. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr6	C	T	10: 89,561,703 (GRCm39)	V148I	probably damaging	Het
Aspn	G	T	13: 49,720,029 (GRCm39)	K348N	probably benign	Het
C1qtnf9	T	C	14: 61,017,205 (GRCm39)	V245A	probably benign	Het
Cfhr4	T	C	1: 139,625,823 (GRCm39)		probably benign	Het
Chd4	T	C	6: 125,099,431 (GRCm39)		probably benign	Het
Clcn3	A	T	8: 61,390,381 (GRCm39)	C187S	probably damaging	Het
Dcxr	T	C	11: 120,616,993 (GRCm39)	I123M	possibly damaging	Het
Fstl1	T	C	16: 37,647,175 (GRCm39)	Y182H	probably damaging	Het
Ghrhr	T	C	6: 55,356,178 (GRCm39)		probably null	Het
Gpr179	T	C	11: 97,228,627 (GRCm39)	E1176G	probably damaging	Het
H2-T22	A	G	17: 36,352,811 (GRCm39)	S99P	probably damaging	Het
Igkv4-79	T	A	6: 69,020,110 (GRCm39)	K68N	probably damaging	Het
Kpna6	C	T	4: 129,549,276 (GRCm39)	V169I	probably damaging	Het
Krit1	G	T	5: 3,862,844 (GRCm39)	V278F	probably damaging	Het
Mrpl4	T	C	9: 20,914,627 (GRCm39)	S68P	probably damaging	Het
Mylk3	A	C	8: 86,078,586 (GRCm39)		probably null	Het
Nfasc	A	T	1: 132,570,514 (GRCm39)		probably benign	Het
Ntsr1	T	C	2: 180,184,335 (GRCm39)	F346S	probably damaging	Het
Or10ak11	A	G	4: 118,686,989 (GRCm39)	V216A	probably benign	Het
Or5b107	T	C	19: 13,142,735 (GRCm39)	M119T	probably damaging	Het
Rbm7	A	G	9: 48,402,149 (GRCm39)	V146A	probably damaging	Het
Sall3	A	T	18: 81,016,447 (GRCm39)	Y494N	probably damaging	Het
Ssbp1	T	A	6: 40,455,004 (GRCm39)		probably benign	Het
Stard7	T	C	2: 127,112,746 (GRCm39)	L4P	probably damaging	Het
Stk-ps2	A	T	1: 46,069,010 (GRCm39)		noncoding transcript	Het
Tmem67	G	A	4: 12,063,126 (GRCm39)	R507C	probably damaging	Het
Unc13c	A	T	9: 73,839,563 (GRCm39)	D429E	possibly damaging	Het
Unc93b1	A	G	19: 3,985,356 (GRCm39)		probably null	Het
Vmn1r171	T	C	7: 23,332,252 (GRCm39)	V159A	probably damaging	Het
Zfp608	T	C	18: 55,031,159 (GRCm39)	E927G	probably benign	Het
Zfp820	T	A	17: 22,040,162 (GRCm39)	K16*	probably null	Het
Zgrf1	T	C	3: 127,381,790 (GRCm39)		probably benign	Het

Other mutations in Phox2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1834:Phox2a	UTSW	7	101,470,152 (GRCm39)	splice site	probably null
R5253:Phox2a	UTSW	7	101,471,312 (GRCm39)	missense	probably benign
R5319:Phox2a	UTSW	7	101,470,057 (GRCm39)	missense	probably damaging	1.00
R7086:Phox2a	UTSW	7	101,467,718 (GRCm39)	missense	probably damaging	1.00
Z1177:Phox2a	UTSW	7	101,470,166 (GRCm39)	frame shift	probably null

Posted On

2013-06-21