Mutagenetix > Incidental Mutation

Incidental Mutation 'R5641:Prox2'

440685

Institutional Source

Beutler Lab

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 #

R5641 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85133159-85157533 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85134721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 520 (V520A)

Ref Sequence

ENSEMBL: ENSMUSP00000135881 (fasta)

Gene Model

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

AlphaFold

Q8BII1

Predicted Effect

probably benign
Transcript: ENSMUST00000110249
AA Change: V520A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000105878
Gene: ENSMUSG00000042320
AA Change: V520A

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 benign
Transcript: ENSMUST00000177289
AA Change: V520A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000135881
Gene: ENSMUSG00000042320
AA Change: V520A

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

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	T	16: 14,289,877 (GRCm39)	M1398L	probably benign	Het
Acad12	A	G	5: 121,742,084 (GRCm39)		probably benign	Het
Aldh1a7	T	C	19: 20,693,293 (GRCm39)	I209V	probably benign	Het
Alkal2	G	A	12: 30,937,264 (GRCm39)		probably null	Het
Aqr	A	G	2: 113,979,515 (GRCm39)	F307L	probably damaging	Het
Atp2a2	A	G	5: 122,595,639 (GRCm39)	L932P	probably damaging	Het
Atxn7	T	C	14: 14,013,638 (GRCm38)	M113T	probably damaging	Het
Blzf1	T	A	1: 164,134,038 (GRCm39)	M4L	probably benign	Het
Brca2	C	A	5: 150,480,364 (GRCm39)	S2711R	probably damaging	Het
Bzw1	A	T	1: 58,436,883 (GRCm39)	Q70L	probably damaging	Het
Cd34	T	A	1: 194,630,276 (GRCm39)	I70N	probably benign	Het
Chac1	A	G	2: 119,181,999 (GRCm39)	Y39C	probably damaging	Het
Col6a2	G	C	10: 76,449,112 (GRCm39)	P275A	probably damaging	Het
Crb1	T	A	1: 139,176,627 (GRCm39)	N452I	probably damaging	Het
Ctrc	T	C	4: 141,566,094 (GRCm39)	N188S	probably damaging	Het
Dnah7b	G	A	1: 46,307,924 (GRCm39)		probably null	Het
Etl4	GGGGAAGAACCGG	GGG	2: 20,811,273 (GRCm39)		probably null	Het
Exoc6	T	A	19: 37,576,081 (GRCm39)		probably null	Het
Gm5616	T	A	9: 48,361,716 (GRCm39)		noncoding transcript	Het
Gm7535	T	C	17: 18,131,788 (GRCm39)		probably benign	Het
Hnrnpr	T	C	4: 136,059,798 (GRCm39)	S200P	probably damaging	Het
Ighg2b	T	C	12: 113,270,767 (GRCm39)	N121S	unknown	Het
Il21	T	A	3: 37,281,917 (GRCm39)	K76*	probably null	Het
Jup	T	A	11: 100,267,632 (GRCm39)	T564S	possibly damaging	Het
Kcns2	G	C	15: 34,839,199 (GRCm39)	R187S	possibly damaging	Het
Klhl18	G	A	9: 110,275,896 (GRCm39)	T84M	probably damaging	Het
Mtor	T	A	4: 148,630,882 (GRCm39)	L2280M	probably damaging	Het
Ncoa6	A	G	2: 155,263,756 (GRCm39)	I226T	probably benign	Het
Nipbl	A	T	15: 8,396,196 (GRCm39)	Y126N	possibly damaging	Het
Nlrp4a	T	A	7: 26,149,589 (GRCm39)	C399S	probably damaging	Het
Nphp3	A	G	9: 103,913,352 (GRCm39)	K54E	probably damaging	Het
Nsun2	T	A	13: 69,771,368 (GRCm39)	V326E	probably benign	Het
Oosp3	T	C	19: 11,674,537 (GRCm39)		probably null	Het
Or4k15b	A	G	14: 50,272,746 (GRCm39)	I38T	probably benign	Het
Pcdhga9	T	C	18: 37,871,301 (GRCm39)	S377P	probably damaging	Het
Pdlim3	A	G	8: 46,368,300 (GRCm39)		probably null	Het
Pla2r1	A	T	2: 60,345,328 (GRCm39)	W343R	probably damaging	Het
Rfx3	T	C	19: 27,771,008 (GRCm39)		probably null	Het
Rif1	A	C	2: 52,011,170 (GRCm39)	R2412S	possibly damaging	Het
Rreb1	T	C	13: 38,131,397 (GRCm39)	L1517P	probably benign	Het
Rxfp1	T	C	3: 79,594,199 (GRCm39)	N65S	probably damaging	Het
Sbf2	T	C	7: 110,038,108 (GRCm39)	E399G	probably damaging	Het
Slc36a4	A	C	9: 15,640,098 (GRCm39)		probably null	Het
Slco1a1	A	T	6: 141,885,695 (GRCm39)	M110K	probably damaging	Het
Stat5a	T	A	11: 100,767,634 (GRCm39)	C401S	probably benign	Het
Ticam1	TCACACA	TCACA	17: 56,577,629 (GRCm39)		probably null	Het
Tmem150c	T	C	5: 100,231,523 (GRCm39)	T151A	probably damaging	Het
Ube4a	A	T	9: 44,862,179 (GRCm39)	M173K	probably damaging	Het
Vmn1r188	A	T	13: 22,272,342 (GRCm39)	S99C	probably damaging	Het
Vmn2r70	C	T	7: 85,208,572 (GRCm39)	C635Y	probably damaging	Het
Zfp644	T	C	5: 106,767,461 (GRCm39)	K24E	probably damaging	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
IGL02153:Prox2	APN	12	85,134,703 (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
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

Predicted Primers

PCR Primer
(F):5'- TTGGGTATTAGAGCCTTCCAGG -3'
(R):5'- GTTCACACAGTTCAACCGCTG -3'

Sequencing Primer
(F):5'- ATTAGAGCCTTCCAGGACTTG -3'
(R):5'- GCTGCATCACCTCCCAGATG -3'

Posted On

2016-11-08