Mutagenetix > Incidental Mutation

Incidental Mutation 'R1601:Prox1'

176124

Institutional Source

Beutler Lab

Gene Symbol

Prox1

Ensembl Gene

ENSMUSG00000010175

Gene Name

prospero homeobox 1

Synonyms

A230003G05Rik

MMRRC Submission

039638-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1601 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

189850232-189902911 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 189893203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 414 (D414G)

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: D414G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000010319
Gene: ENSMUSG00000010175
AA Change: D414G

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: D414G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135703
Gene: ENSMUSG00000010175
AA Change: D414G

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: D414G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135066
Gene: ENSMUSG00000010175
AA Change: D414G

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.6%

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 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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	G	A	3: 68,777,546 (GRCm39)	S169N	probably benign	Het
Adgra2	T	C	8: 27,600,046 (GRCm39)		probably null	Het
Adgrb2	T	C	4: 129,886,630 (GRCm39)	S257P	probably benign	Het
Adgre1	A	G	17: 57,748,353 (GRCm39)	K518E	probably benign	Het
Anxa7	A	T	14: 20,514,683 (GRCm39)	Y64*	probably null	Het
Arhgef7	A	G	8: 11,832,638 (GRCm39)		probably null	Het
Cdc42bpa	T	A	1: 179,892,566 (GRCm39)	Y243*	probably null	Het
Cdk14	C	T	5: 5,185,378 (GRCm39)	V176M	probably damaging	Het
Cnbd2	A	G	2: 156,175,551 (GRCm39)	E54G	probably damaging	Het
Crx	T	C	7: 15,601,736 (GRCm39)		probably null	Het
Cyp24a1	A	G	2: 170,327,611 (GRCm39)	F511L	possibly damaging	Het
Ddx11	A	G	17: 66,457,380 (GRCm39)	M810V	probably damaging	Het
Dock10	T	C	1: 80,527,519 (GRCm39)	T1077A	probably benign	Het
Dop1a	G	A	9: 86,418,303 (GRCm39)	D2011N	probably damaging	Het
Ehhadh	T	A	16: 21,585,158 (GRCm39)	H241L	probably benign	Het
Elp1	T	A	4: 56,774,756 (GRCm39)	K740*	probably null	Het
Enah	A	T	1: 181,747,185 (GRCm39)	L523*	probably null	Het
Fabp3	T	C	4: 130,202,641 (GRCm39)	L24P	probably benign	Het
Fat2	A	G	11: 55,172,836 (GRCm39)	S2626P	probably benign	Het
Fbxo4	A	G	15: 3,998,447 (GRCm39)	M337T	possibly damaging	Het
Gas6	G	T	8: 13,515,786 (GRCm39)	T662N	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Hrh4	G	A	18: 13,148,955 (GRCm39)	V106I	possibly damaging	Het
Ido2	G	T	8: 25,066,205 (GRCm39)	H20Q	possibly damaging	Het
Itga10	G	T	3: 96,560,974 (GRCm39)	R613L	possibly damaging	Het
Itsn2	T	C	12: 4,708,452 (GRCm39)	S836P	probably benign	Het
Kcng3	A	T	17: 83,895,768 (GRCm39)	C233S	probably damaging	Het
Kdm3b	A	G	18: 34,941,784 (GRCm39)	Q625R	probably damaging	Het
Kidins220	A	G	12: 25,055,087 (GRCm39)	S553G	probably benign	Het
Krt82	A	T	15: 101,453,588 (GRCm39)	I266N	probably damaging	Het
Lama5	A	T	2: 179,839,538 (GRCm39)	L736Q	probably damaging	Het
Lnx2	A	G	5: 146,970,329 (GRCm39)	C138R	probably damaging	Het
Mcm5	T	C	8: 75,845,982 (GRCm39)	C397R	possibly damaging	Het
Me1	A	C	9: 86,560,065 (GRCm39)	Y52D	probably damaging	Het
Muc4	C	A	16: 32,575,875 (GRCm39)		probably benign	Het
Myo18b	G	T	5: 113,019,364 (GRCm39)	Q638K	possibly damaging	Het
Ncapd2	A	G	6: 125,162,735 (GRCm39)	L170P	probably damaging	Het
Neb	A	T	2: 52,177,264 (GRCm39)	L1359*	probably null	Het
Nomo1	C	A	7: 45,696,379 (GRCm39)	S299Y	probably damaging	Het
Onecut1	A	T	9: 74,769,973 (GRCm39)	H132L	probably benign	Het
Or2b2	C	A	13: 21,887,396 (GRCm39)	T75K	probably damaging	Het
Or2w3	A	T	11: 58,556,903 (GRCm39)	R173W	probably damaging	Het
Or4e2	A	C	14: 52,687,899 (GRCm39)	T10P	probably benign	Het
Or7a41	A	T	10: 78,871,338 (GRCm39)	Y236F	possibly damaging	Het
Paqr3	A	G	5: 97,259,248 (GRCm39)	Y19H	probably benign	Het
Prdx5	T	C	19: 6,884,926 (GRCm39)	H140R	possibly damaging	Het
Ptprh	T	G	7: 4,555,637 (GRCm39)	E774A	probably damaging	Het
Rnpepl1	A	T	1: 92,844,944 (GRCm39)	D412V	possibly damaging	Het
Sars2	C	T	7: 28,448,396 (GRCm39)	T259M	probably benign	Het
Sbf2	T	C	7: 109,939,283 (GRCm39)		probably null	Het
Sbno2	C	T	10: 79,896,326 (GRCm39)	R898H	probably damaging	Het
Smox	C	A	2: 131,362,094 (GRCm39)	T172N	probably damaging	Het
Taf7l2	T	C	10: 115,949,521 (GRCm39)	S2G	probably damaging	Het
Tdrd9	C	T	12: 111,989,687 (GRCm39)	R341*	probably null	Het
Thrap3	C	G	4: 126,073,894 (GRCm39)	G284A	probably damaging	Het
Tmtc4	A	G	14: 123,182,238 (GRCm39)	V271A	probably benign	Het
Trank1	A	G	9: 111,202,545 (GRCm39)	T1637A	probably damaging	Het
Tspan5	T	A	3: 138,602,596 (GRCm39)	I166N	probably damaging	Het
Vps13b	T	C	15: 35,642,582 (GRCm39)	V1398A	probably benign	Het
Xbp1	C	T	11: 5,471,975 (GRCm39)	R34W	probably damaging	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
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
R4873:Prox1	UTSW	1	189,894,319 (GRCm39)	missense	probably damaging	0.99
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

PCR Primer
(F):5'- TCCCGAGTCAAGTCTAAGGACTCAG -3'
(R):5'- GACACGGTGGTCAAAGTCTTCTCAG -3'

Sequencing Primer
(F):5'- GCACCTAGTGGACTCTGAAATG -3'
(R):5'- GGTCAAAGTCTTCTCAGCCAAAC -3'

Posted On

2014-04-24