Mutagenetix > Incidental Mutation

Incidental Mutation 'R4873:Prox1'

472566

Institutional Source

Beutler Lab

Gene Symbol

Prox1

Ensembl Gene

ENSMUSG00000010175

Gene Name

prospero homeobox 1

Synonyms

A230003G05Rik

MMRRC Submission

042483-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4873 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

189850232-189902911 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 189894319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 42 (F42C)

Ref Sequence

ENSEMBL: ENSMUSP00000135066 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010319] [ENSMUST00000175916] [ENSMUST00000177288]

AlphaFold

P48437

Predicted Effect

probably damaging
Transcript: ENSMUST00000010319
AA Change: F42C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000010319
Gene: ENSMUSG00000010175
AA Change: F42C

Domain	Start	End	E-Value	Type
low complexity region	208	223	N/A	INTRINSIC
SCOP:d1fxkc_	227	363	9e-5	SMART
low complexity region	514	526	N/A	INTRINSIC
low complexity region	529	545	N/A	INTRINSIC
Pfam:HPD	578	735	8.9e-91	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000175916
AA Change: F42C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135703
Gene: ENSMUSG00000010175
AA Change: F42C

Domain	Start	End	E-Value	Type
low complexity region	208	223	N/A	INTRINSIC
SCOP:d1fxkc_	227	363	9e-5	SMART
low complexity region	514	526	N/A	INTRINSIC
low complexity region	529	545	N/A	INTRINSIC
Pfam:HPD	578	735	8.9e-91	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000177288
AA Change: F42C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135066
Gene: ENSMUSG00000010175
AA Change: F42C

Domain	Start	End	E-Value	Type
low complexity region	208	223	N/A	INTRINSIC
SCOP:d1fxkc_	227	363	9e-5	SMART
low complexity region	514	526	N/A	INTRINSIC
low complexity region	529	545	N/A	INTRINSIC
Pfam:HPD	579	732	2.2e-86	PFAM

Meta Mutation Damage Score

0.3970

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (40/41)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the homeobox transcription factor family. Members of this family contain a homeobox domain that consists of a 60-amino acid helix-turn-helix structure that binds DNA and RNA. The protein encoded by this gene is conserved across vertebrates and may play an essential role during development. Altered levels of this protein have been reported in cancers of different organs, such as colon, brain, blood, breast, pancreas, liver and esophagus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality with impaired development of the lens, lymphatic system, liver and pancreas. Heterozygous mutation results in early postnatal lethality with varying penetrance on different genetic backgrounds, obesity and lymphatic vessel abnormalities [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak1	A	T	2: 32,521,189 (GRCm39)	E119D	probably benign	Het
Alox5	A	T	6: 116,390,811 (GRCm39)		probably null	Het
Atad5	T	C	11: 80,011,515 (GRCm39)	V1294A	probably damaging	Het
BB019430	A	G	10: 58,539,865 (GRCm39)		noncoding transcript	Het
Bbs9	T	C	9: 22,490,011 (GRCm39)	F261L	probably benign	Het
Catsperb	A	T	12: 101,554,244 (GRCm39)	N646I	possibly damaging	Het
Ccdc112	A	G	18: 46,429,356 (GRCm39)	I114T	probably damaging	Het
Cecr2	T	C	6: 120,727,877 (GRCm39)	L340P	probably damaging	Het
Ces2e	T	A	8: 105,653,817 (GRCm39)	V85E	probably damaging	Het
Cnpy2	C	A	10: 128,161,964 (GRCm39)	T79K	probably damaging	Het
Cntn4	G	A	6: 106,414,874 (GRCm39)	R135H	possibly damaging	Het
Cyp3a16	C	A	5: 145,389,659 (GRCm39)	M235I	probably benign	Het
Dll3	A	G	7: 27,995,860 (GRCm39)	C314R	probably damaging	Het
Dnah7c	A	G	1: 46,728,085 (GRCm39)	N2928D	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dqx1	C	A	6: 83,037,993 (GRCm39)	D460E	probably benign	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Ehbp1	A	G	11: 22,051,164 (GRCm39)	C438R	probably damaging	Het
Ehd3	T	G	17: 74,112,299 (GRCm39)	V21G	probably damaging	Het
Ero1b	G	A	13: 12,619,325 (GRCm39)	V440I	probably damaging	Het
Fpgt	G	A	3: 154,793,550 (GRCm39)	A159V	probably damaging	Het
Gcn1	T	C	5: 115,714,229 (GRCm39)	L123P	possibly damaging	Het
Gm14496	A	T	2: 181,639,226 (GRCm39)	R439W	probably damaging	Het
Gm4353	G	C	7: 115,683,648 (GRCm39)	P49R	probably damaging	Het
Gsdmc2	C	T	15: 63,700,101 (GRCm39)	A224T	probably benign	Het
Hnf1a	T	C	5: 115,108,732 (GRCm39)	T58A	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kcns1	T	C	2: 164,010,021 (GRCm39)	Y246C	probably damaging	Het
Kif26b	A	G	1: 178,742,892 (GRCm39)	E549G	probably benign	Het
Krt9	T	C	11: 100,080,863 (GRCm39)	I330V	probably benign	Het
Lair1	A	T	7: 4,032,033 (GRCm39)	S25T	probably benign	Het
Lhx4	T	C	1: 155,581,013 (GRCm39)	T171A	possibly damaging	Het
Luzp2	A	G	7: 54,816,996 (GRCm39)	I149V	possibly damaging	Het
Mcoln1	T	A	8: 3,557,422 (GRCm39)	S143T	probably benign	Het
Mcph1	A	G	8: 18,675,574 (GRCm39)		probably null	Het
Mgat5	G	A	1: 127,396,986 (GRCm39)	V578M	probably damaging	Het
Mis18bp1	G	A	12: 65,208,209 (GRCm39)	T168M	probably benign	Het
Mroh2a	G	T	1: 88,182,657 (GRCm39)	R1195L	possibly damaging	Het
Myom1	T	C	17: 71,379,114 (GRCm39)	V626A	probably damaging	Het
Naa80	C	T	9: 107,460,818 (GRCm39)	R238C	probably damaging	Het
Ncam1	T	C	9: 49,418,921 (GRCm39)		probably benign	Het
Nlrp2	A	T	7: 5,301,858 (GRCm39)	F211L	probably benign	Het
Or10a49	A	T	7: 108,467,993 (GRCm39)	F123I	probably damaging	Het
Or10q12	T	A	19: 13,746,126 (GRCm39)	M140K	probably damaging	Het
Or2ad1	T	A	13: 21,326,450 (GRCm39)	Y259F	probably damaging	Het
Osbpl11	G	A	16: 33,054,863 (GRCm39)	V649I	probably benign	Het
Oscar	A	T	7: 3,619,016 (GRCm39)		probably null	Het
Pax8	T	A	2: 24,331,652 (GRCm39)	M144L	probably benign	Het
Pcnt	T	C	10: 76,205,688 (GRCm39)	T2555A	probably benign	Het
Plat	T	A	8: 23,258,466 (GRCm39)	I23K	probably benign	Het
Plpp2	G	A	10: 79,366,763 (GRCm39)	T51M	probably damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Prl7c1	T	C	13: 27,957,742 (GRCm39)	M233V	probably benign	Het
Pwwp2b	A	T	7: 138,835,978 (GRCm39)	Q473L	possibly damaging	Het
Rims4	A	T	2: 163,707,443 (GRCm39)	N127K	probably null	Het
Scn1a	T	C	2: 66,158,820 (GRCm39)	T367A	possibly damaging	Het
Slc23a2	A	G	2: 131,898,800 (GRCm39)	I579T	possibly damaging	Het
Sp9	T	C	2: 73,103,962 (GRCm39)	V172A	possibly damaging	Het
Spta1	T	A	1: 174,003,396 (GRCm39)	L109Q	probably damaging	Het
Synj2	A	T	17: 6,038,343 (GRCm39)		probably benign	Het
Tcstv2c	T	C	13: 120,616,206 (GRCm39)	V15A	probably damaging	Het
Tnrc18	A	T	5: 142,750,932 (GRCm39)	M1216K	unknown	Het
Tpst2	T	A	5: 112,457,687 (GRCm39)	Y69*	probably null	Het
Tpx2	C	A	2: 152,735,535 (GRCm39)	A721E	probably benign	Het
Trmt1l	A	G	1: 151,330,755 (GRCm39)	T591A	probably benign	Het
Tubgcp4	T	A	2: 121,015,330 (GRCm39)		probably benign	Het
Ubiad1	T	C	4: 148,528,556 (GRCm39)	T118A	possibly damaging	Het
Unc13c	T	C	9: 73,424,566 (GRCm39)	T2017A	probably damaging	Het
Vmn1r59	G	T	7: 5,457,108 (GRCm39)	N217K	probably benign	Het
Vmn2r87	T	C	10: 130,308,367 (GRCm39)	I624V	probably damaging	Het
Wdr4	A	G	17: 31,718,129 (GRCm39)	V315A	probably benign	Het
Xpo7	T	C	14: 70,914,256 (GRCm39)		probably null	Het
Zfp827	T	A	8: 79,787,403 (GRCm39)	W190R	probably damaging	Het
Zfp971	A	G	2: 177,674,940 (GRCm39)	T180A	probably benign	Het
Zfp980	G	A	4: 145,428,653 (GRCm39)	G461S	probably benign	Het

Other mutations in Prox1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Prox1	APN	1	189,855,607 (GRCm39)	splice site	probably benign
IGL01729:Prox1	APN	1	189,893,372 (GRCm39)	missense	probably benign
IGL02167:Prox1	APN	1	189,893,477 (GRCm39)	missense	probably benign	0.13
IGL02416:Prox1	APN	1	189,893,327 (GRCm39)	missense	probably benign	0.00
IGL02419:Prox1	APN	1	189,893,327 (GRCm39)	missense	probably benign	0.00
IGL03234:Prox1	APN	1	189,893,833 (GRCm39)	missense	probably damaging	1.00
R0069:Prox1	UTSW	1	189,893,116 (GRCm39)	missense	possibly damaging	0.85
R0514:Prox1	UTSW	1	189,893,653 (GRCm39)	missense	probably damaging	0.99
R1249:Prox1	UTSW	1	189,879,258 (GRCm39)	missense	possibly damaging	0.94
R1299:Prox1	UTSW	1	189,879,140 (GRCm39)	splice site	probably benign
R1601:Prox1	UTSW	1	189,893,203 (GRCm39)	missense	probably damaging	0.99
R1893:Prox1	UTSW	1	189,892,715 (GRCm39)	splice site	probably benign
R2090:Prox1	UTSW	1	189,893,009 (GRCm39)	missense	probably damaging	0.99
R2366:Prox1	UTSW	1	189,894,079 (GRCm39)	missense	probably damaging	0.96
R4614:Prox1	UTSW	1	189,894,205 (GRCm39)	missense	probably damaging	0.99
R4799:Prox1	UTSW	1	189,885,669 (GRCm39)	missense	probably damaging	0.98
R4875:Prox1	UTSW	1	189,894,319 (GRCm39)	missense	probably damaging	0.99
R5124:Prox1	UTSW	1	189,893,476 (GRCm39)	missense	possibly damaging	0.73
R5149:Prox1	UTSW	1	189,879,250 (GRCm39)	missense	possibly damaging	0.89
R5256:Prox1	UTSW	1	189,893,638 (GRCm39)	missense	probably benign	0.02
R5545:Prox1	UTSW	1	189,879,339 (GRCm39)	missense	probably damaging	1.00
R5985:Prox1	UTSW	1	189,879,152 (GRCm39)	missense	possibly damaging	0.93
R5993:Prox1	UTSW	1	189,894,436 (GRCm39)	missense	probably damaging	1.00
R6833:Prox1	UTSW	1	189,892,975 (GRCm39)	missense	probably damaging	0.99
R7335:Prox1	UTSW	1	189,894,042 (GRCm39)	missense	possibly damaging	0.93
R7385:Prox1	UTSW	1	189,894,323 (GRCm39)	missense	probably benign
R7572:Prox1	UTSW	1	189,855,583 (GRCm39)	missense	probably benign	0.10
R7608:Prox1	UTSW	1	189,885,642 (GRCm39)	missense	probably benign	0.24
R7655:Prox1	UTSW	1	189,894,418 (GRCm39)	missense	probably damaging	0.99
R7656:Prox1	UTSW	1	189,894,418 (GRCm39)	missense	probably damaging	0.99
R8070:Prox1	UTSW	1	189,893,107 (GRCm39)	missense	probably damaging	0.96
R8730:Prox1	UTSW	1	189,894,238 (GRCm39)	missense	possibly damaging	0.85
R9141:Prox1	UTSW	1	189,892,511 (GRCm39)	splice site	probably null
R9216:Prox1	UTSW	1	189,892,905 (GRCm39)	missense	possibly damaging	0.91
R9273:Prox1	UTSW	1	189,893,242 (GRCm39)	missense	possibly damaging	0.91
Z1088:Prox1	UTSW	1	189,894,196 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

Posted On

2017-04-14