Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02153:Prox2'

282112

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prox2

Ensembl Gene

ENSMUSG00000042320

Gene Name

prospero homeobox 2

Synonyms

1700058C01Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02153

Quality Score

Status

Chromosome

Chromosomal Location

85133159-85157533 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85134703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 526 (N526S)

Ref Sequence

ENSEMBL: ENSMUSP00000135881 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110249] [ENSMUST00000177289]

AlphaFold

Q8BII1

Predicted Effect

probably damaging
Transcript: ENSMUST00000110249
AA Change: N526S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105878
Gene: ENSMUSG00000042320
AA Change: N526S

Domain	Start	End	E-Value	Type
low complexity region	132	148	N/A	INTRINSIC
low complexity region	167	181	N/A	INTRINSIC
low complexity region	381	399	N/A	INTRINSIC
Pfam:HPD	435	588	7.9e-82	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177043

Predicted Effect

probably damaging
Transcript: ENSMUST00000177289
AA Change: N526S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135881
Gene: ENSMUSG00000042320
AA Change: N526S

Domain	Start	End	E-Value	Type
low complexity region	132	148	N/A	INTRINSIC
low complexity region	167	181	N/A	INTRINSIC
low complexity region	381	399	N/A	INTRINSIC
Pfam:HPD	434	591	3.9e-86	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal growth, survival and fertility, with no detectable defects in eye structure or horizontal cell development in the retina. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	T	C	2: 152,283,161 (GRCm39)	I275T	probably benign	Het
Chd9	A	T	8: 91,683,122 (GRCm39)	K521*	probably null	Het
Csn3	A	T	5: 88,077,956 (GRCm39)	N154I	possibly damaging	Het
Dock2	A	G	11: 34,180,670 (GRCm39)	S1716P	probably benign	Het
Dock7	A	T	4: 98,846,304 (GRCm39)	S18T	probably benign	Het
Esrra	G	A	19: 6,891,190 (GRCm39)	T190I	probably benign	Het
F13b	T	C	1: 139,444,115 (GRCm39)	I483T	probably damaging	Het
Foxb1	T	A	9: 69,666,985 (GRCm39)	M182L	probably benign	Het
Fsip2	T	C	2: 82,809,065 (GRCm39)	F1795L	probably benign	Het
Gkn2	G	A	6: 87,350,390 (GRCm39)		probably null	Het
Gm8439	G	A	4: 120,466,787 (GRCm39)	A93T	unknown	Het
Ift22	T	C	5: 136,940,550 (GRCm39)	S72P	probably benign	Het
Kcnmb2	A	G	3: 32,232,993 (GRCm39)	K24E	probably damaging	Het
Kcnq3	C	A	15: 65,897,040 (GRCm39)	V287L	probably damaging	Het
Lrriq1	T	A	10: 103,006,340 (GRCm39)	M1262L	probably benign	Het
Mb21d2	A	G	16: 28,748,240 (GRCm39)	I59T	probably benign	Het
Mogat2	A	T	7: 98,872,761 (GRCm39)	M141K	possibly damaging	Het
Mtdh	C	T	15: 34,131,396 (GRCm39)	L409F	possibly damaging	Het
Muc5ac	C	T	7: 141,372,537 (GRCm39)	Q2724*	probably null	Het
Myo15a	T	G	11: 60,389,223 (GRCm39)	L2040R	probably damaging	Het
Nodal	C	T	10: 61,260,324 (GRCm39)	T325I	probably damaging	Het
Pappa	A	T	4: 65,215,674 (GRCm39)	T1194S	probably damaging	Het
Pcdhb13	A	C	18: 37,576,738 (GRCm39)	D372A	probably damaging	Het
Phf14	T	A	6: 11,934,015 (GRCm39)	N292K	probably damaging	Het
Pigr	T	A	1: 130,776,793 (GRCm39)		probably null	Het
Plcb1	T	C	2: 135,229,773 (GRCm39)	I1131T	probably benign	Het
Plch1	T	A	3: 63,688,772 (GRCm39)	D132V	probably damaging	Het
Plxnb2	C	A	15: 89,050,016 (GRCm39)	E502*	probably null	Het
Rdm1	T	A	11: 101,519,280 (GRCm39)		probably null	Het
Rxfp1	C	T	3: 79,567,427 (GRCm39)	E308K	probably benign	Het
Sgca	T	C	11: 94,854,110 (GRCm39)	T120A	probably damaging	Het
Sh3tc1	G	A	5: 35,860,696 (GRCm39)	R1054W	probably damaging	Het
Smarcal1	C	T	1: 72,672,214 (GRCm39)		probably benign	Het
Spata45	T	A	1: 190,771,958 (GRCm39)	M60K	probably benign	Het
St8sia6	T	C	2: 13,661,716 (GRCm39)	M372V	probably damaging	Het
Tas2r126	T	G	6: 42,411,598 (GRCm39)	S44A	probably benign	Het
Tcea3	T	A	4: 136,000,945 (GRCm39)		probably benign	Het
Thoc2l	A	G	5: 104,668,949 (GRCm39)	E1157G	probably benign	Het
Tln1	T	C	4: 43,546,857 (GRCm39)	I840V	possibly damaging	Het
Ttn	T	C	2: 76,728,685 (GRCm39)		probably benign	Het
Ubr4	T	A	4: 139,187,471 (GRCm39)	Y3846*	probably null	Het
Usp47	G	A	7: 111,703,256 (GRCm39)	D1171N	probably benign	Het
Vmn2r114	G	A	17: 23,510,782 (GRCm39)	T566I	probably benign	Het
Wdr35	G	A	12: 9,058,535 (GRCm39)	R575Q	probably null	Het
Xkr5	A	T	8: 18,983,683 (GRCm39)	C454S	probably benign	Het

Other mutations in Prox2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Prox2	APN	12	85,141,552 (GRCm39)	missense	probably benign	0.00
IGL00935:Prox2	APN	12	85,134,703 (GRCm39)	missense	probably damaging	1.00
IGL01590:Prox2	APN	12	85,134,845 (GRCm39)	missense	probably damaging	1.00
IGL02555:Prox2	APN	12	85,142,034 (GRCm39)	nonsense	probably null
IGL03038:Prox2	APN	12	85,142,038 (GRCm39)	missense	possibly damaging	0.91
R2081:Prox2	UTSW	12	85,141,782 (GRCm39)	missense	probably damaging	0.98
R4285:Prox2	UTSW	12	85,141,698 (GRCm39)	missense	probably benign	0.00
R4560:Prox2	UTSW	12	85,141,817 (GRCm39)	missense	probably benign	0.04
R5048:Prox2	UTSW	12	85,141,115 (GRCm39)	missense	probably damaging	1.00
R5641:Prox2	UTSW	12	85,134,721 (GRCm39)	missense	probably benign	0.00
R5770:Prox2	UTSW	12	85,134,154 (GRCm39)	missense	probably benign	0.30
R6291:Prox2	UTSW	12	85,136,420 (GRCm39)	missense	probably damaging	1.00
R6940:Prox2	UTSW	12	85,141,348 (GRCm39)	missense	probably benign	0.01
R6991:Prox2	UTSW	12	85,134,165 (GRCm39)	missense	probably benign	0.00
R7752:Prox2	UTSW	12	85,134,815 (GRCm39)	missense	probably damaging	1.00
R8315:Prox2	UTSW	12	85,142,182 (GRCm39)	missense	probably benign	0.02
R9500:Prox2	UTSW	12	85,134,851 (GRCm39)	missense	probably damaging	1.00
R9569:Prox2	UTSW	12	85,141,766 (GRCm39)	nonsense	probably null
R9570:Prox2	UTSW	12	85,141,766 (GRCm39)	nonsense	probably null
R9571:Prox2	UTSW	12	85,141,766 (GRCm39)	nonsense	probably null
R9573:Prox2	UTSW	12	85,141,766 (GRCm39)	nonsense	probably null

Posted On

2015-04-16