Mutagenetix > Incidental Mutation

Incidental Mutation 'R7655:Prox1'

591113

Institutional Source

Beutler Lab

Gene Symbol

Prox1

Ensembl Gene

ENSMUSG00000010175

Gene Name

prospero homeobox 1

Synonyms

A230003G05Rik

MMRRC Submission

045731-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7655 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

189850232-189902911 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 189894418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 9 (L9P)

Ref Sequence

ENSEMBL: ENSMUSP00000010319 (fasta)

Gene Model

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

AlphaFold

P48437

Predicted Effect

probably damaging
Transcript: ENSMUST00000010319
AA Change: L9P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000010319
Gene: ENSMUSG00000010175
AA Change: L9P

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: L9P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135703
Gene: ENSMUSG00000010175
AA Change: L9P

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: L9P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135066
Gene: ENSMUSG00000010175
AA Change: L9P

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abitram	A	G	4: 56,804,218 (GRCm39)	I78V	probably benign	Het
Acot2	A	G	12: 84,039,691 (GRCm39)	Y400C	probably benign	Het
Agbl1	A	G	7: 76,059,080 (GRCm39)	M237V		Het
Atrnl1	C	A	19: 57,599,811 (GRCm39)	S9*	probably null	Het
BC031181	A	T	18: 75,142,406 (GRCm39)	K71*	probably null	Het
Bmal2	A	G	6: 146,707,940 (GRCm39)	T21A	probably benign	Het
Brpf1	A	T	6: 113,291,835 (GRCm39)	M294L	probably benign	Het
Camk2g	T	G	14: 20,789,410 (GRCm39)	D382A	possibly damaging	Het
Ccdc33	T	A	9: 58,025,748 (GRCm39)	R94W	probably damaging	Het
Cd244a	T	A	1: 171,404,823 (GRCm39)	L225Q	probably damaging	Het
Chsy1	G	T	7: 65,820,778 (GRCm39)	V338F	probably damaging	Het
Col14a1	A	G	15: 55,225,846 (GRCm39)	I170V	unknown	Het
Col6a2	G	T	10: 76,443,590 (GRCm39)	Q492K	probably benign	Het
Dnah12	G	T	14: 26,581,273 (GRCm39)	V3168L	probably benign	Het
Dnah7a	T	C	1: 53,535,164 (GRCm39)	S2699G	possibly damaging	Het
Fsip2	A	G	2: 82,807,886 (GRCm39)	K1402E	possibly damaging	Het
Ghdc	C	T	11: 100,660,493 (GRCm39)	A127T	probably benign	Het
Glp1r	T	C	17: 31,149,572 (GRCm39)		probably null	Het
Gm19410	A	T	8: 36,276,253 (GRCm39)	M1637L	probably benign	Het
Grm5	T	G	7: 87,779,459 (GRCm39)	D998E	probably benign	Het
Krtcap3	A	G	5: 31,409,904 (GRCm39)	T157A	probably damaging	Het
Luc7l2	A	G	6: 38,580,399 (GRCm39)	R333G	unknown	Het
Mdc1	T	G	17: 36,161,773 (GRCm39)	S895R	probably benign	Het
Mef2a	G	A	7: 66,945,142 (GRCm39)	T80M	probably damaging	Het
Mitd1	T	A	1: 37,924,356 (GRCm39)	I65F	probably benign	Het
Mms19	A	G	19: 41,933,011 (GRCm39)	L1026P	probably damaging	Het
Mtbp	G	T	15: 55,472,922 (GRCm39)	V629L	unknown	Het
Ncapd3	T	A	9: 26,966,801 (GRCm39)	I545N	possibly damaging	Het
Nin	G	A	12: 70,089,542 (GRCm39)	T1291M		Het
Or10z1	T	A	1: 174,077,784 (GRCm39)	K236N	probably damaging	Het
Or5b123	A	T	19: 13,597,197 (GRCm39)	I181F	probably damaging	Het
Orc3	G	T	4: 34,587,032 (GRCm39)	C352*	probably null	Het
Oxct2b	G	A	4: 123,011,550 (GRCm39)	G490D	probably benign	Het
Pcdhb16	A	T	18: 37,612,458 (GRCm39)	T473S	probably benign	Het
Phkg2	G	A	7: 127,182,074 (GRCm39)	G365D	probably damaging	Het
Pira1	T	C	7: 3,742,281 (GRCm39)	E82G	probably damaging	Het
Ppp2r3d	A	T	9: 101,088,911 (GRCm39)	F471I	probably benign	Het
Prl3d1	T	C	13: 27,284,018 (GRCm39)	C196R	possibly damaging	Het
Prmt1	A	T	7: 44,633,552 (GRCm39)	F14L	probably benign	Het
Ptpn13	T	A	5: 103,688,849 (GRCm39)	F881I	probably benign	Het
Rab3ip	A	G	10: 116,750,044 (GRCm39)	I363T	probably benign	Het
Rapgef3	T	C	15: 97,659,090 (GRCm39)	E134G	probably damaging	Het
Rapgef6	C	T	11: 54,585,279 (GRCm39)	P1559L	probably benign	Het
Rnf180	T	C	13: 105,304,096 (GRCm39)	K507E	probably damaging	Het
Rpl3l	T	C	17: 24,949,960 (GRCm39)	I53T	probably benign	Het
Rtl1	T	C	12: 109,557,442 (GRCm39)	I1466V	unknown	Het
Saxo2	A	G	7: 82,284,559 (GRCm39)	Y100H	probably damaging	Het
Selenoh	G	T	2: 84,500,724 (GRCm39)	R39S	probably damaging	Het
Sgsm2	A	G	11: 74,756,323 (GRCm39)	V342A	probably damaging	Het
Slc26a9	T	A	1: 131,690,982 (GRCm39)	F587I	possibly damaging	Het
Smoc1	A	T	12: 81,152,682 (GRCm39)	Q91L	possibly damaging	Het
Spag9	A	C	11: 93,887,389 (GRCm39)	H98P	possibly damaging	Het
Spata31e3	T	G	13: 50,401,122 (GRCm39)	K401N	probably benign	Het
T2	T	A	17: 8,637,047 (GRCm39)	C337*	probably null	Het
Tbc1d19	A	G	5: 54,054,377 (GRCm39)	Y455C	probably damaging	Het
Thbd	A	G	2: 148,249,340 (GRCm39)	L176P	probably damaging	Het
Tmem116	A	G	5: 121,590,252 (GRCm39)		probably null	Het
Tmem25	C	T	9: 44,709,640 (GRCm39)	V54I	possibly damaging	Het
Trpm4	C	T	7: 44,971,233 (GRCm39)	V378I	probably benign	Het
Trrap	G	T	5: 144,779,422 (GRCm39)	W3129C	probably damaging	Het
Ttn	A	T	2: 76,558,660 (GRCm39)	D29740E	probably damaging	Het
Vcan	C	T	13: 89,833,233 (GRCm39)	C3073Y	probably damaging	Het
Xrra1	T	A	7: 99,560,189 (GRCm39)	D388E	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
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
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'- TACGAGTTCGCCCTCTTCAG -3'
(R):5'- TCCCAGAGCCTATGCATTTTGC -3'

Sequencing Primer
(F):5'- AGCTTGCGGAGTACGTTCGAC -3'
(R):5'- CATTTGATTCAGGATTGAGGTCAG -3'

Posted On

2019-11-12