Mutagenetix > Incidental Mutation

Incidental Mutation 'R0514:Prox1'

48073

Institutional Source

Beutler Lab

Gene Symbol

Prox1

Ensembl Gene

ENSMUSG00000010175

Gene Name

prospero homeobox 1

Synonyms

A230003G05Rik

MMRRC Submission

038708-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0514 (G1)

Quality Score

111

Status

Not validated

Chromosome

Chromosomal Location

189850232-189902911 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 189893653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 264 (T264I)

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: T264I

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

SMART Domains

Protein: ENSMUSP00000010319
Gene: ENSMUSG00000010175
AA Change: T264I

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: T264I

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

SMART Domains

Protein: ENSMUSP00000135703
Gene: ENSMUSG00000010175
AA Change: T264I

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: T264I

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

SMART Domains

Protein: ENSMUSP00000135066
Gene: ENSMUSG00000010175
AA Change: T264I

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp3	T	A	9: 104,197,177 (GRCm39)	Y154F	probably damaging	Het
Acsl6	A	T	11: 54,241,406 (GRCm39)	D579V	probably damaging	Het
Adamts18	C	T	8: 114,465,401 (GRCm39)		probably null	Het
Adamts20	A	T	15: 94,168,257 (GRCm39)	V1882D	probably damaging	Het
Add3	A	T	19: 53,225,274 (GRCm39)	K465*	probably null	Het
Ago1	T	G	4: 126,333,388 (GRCm39)	I524L	probably benign	Het
Akr1c18	A	G	13: 4,187,190 (GRCm39)	M208T	probably benign	Het
Anapc1	C	A	2: 128,474,575 (GRCm39)	L1413F	probably damaging	Het
Arid4b	A	T	13: 14,358,902 (GRCm39)	D646V	probably damaging	Het
Arnt2	T	C	7: 83,954,067 (GRCm39)	E261G	probably benign	Het
Bccip	C	T	7: 133,320,859 (GRCm39)	T211I	possibly damaging	Het
Bsn	T	C	9: 108,002,981 (GRCm39)	S475G	probably benign	Het
Cdh26	G	A	2: 178,108,621 (GRCm39)		probably null	Het
Ceacam2	A	G	7: 25,220,356 (GRCm39)	F414S	probably benign	Het
Cep43	A	G	17: 8,410,266 (GRCm39)	N342S	possibly damaging	Het
Cfb	T	C	17: 35,079,874 (GRCm39)	R172G	probably damaging	Het
Cntnap5b	A	C	1: 99,700,511 (GRCm39)	T8P	probably benign	Het
Cpne9	A	T	6: 113,266,974 (GRCm39)	I136L	probably damaging	Het
Crtc1	A	T	8: 70,855,079 (GRCm39)		probably null	Het
Dcdc2a	A	T	13: 25,303,369 (GRCm39)	H300L	probably benign	Het
Dhdh	C	T	7: 45,138,130 (GRCm39)	V20M	probably benign	Het
Dhx34	T	C	7: 15,944,462 (GRCm39)	Q584R	probably benign	Het
Dis3l2	A	G	1: 86,974,814 (GRCm39)	Y701C	probably damaging	Het
Dmrt2	T	C	19: 25,653,019 (GRCm39)		probably null	Het
Dnah5	A	G	15: 28,366,467 (GRCm39)	T2727A	probably damaging	Het
Dop1a	A	G	9: 86,402,787 (GRCm39)	E1329G	probably damaging	Het
Evpl	A	G	11: 116,114,117 (GRCm39)	V1191A	probably damaging	Het
Fhl4	T	C	10: 84,934,250 (GRCm39)	D177G	probably damaging	Het
Gask1a	A	G	9: 121,807,418 (GRCm39)	T521A	possibly damaging	Het
Heg1	A	G	16: 33,547,126 (GRCm39)	T662A	possibly damaging	Het
Ifih1	A	G	2: 62,453,735 (GRCm39)		probably null	Het
Il13	T	C	11: 53,523,345 (GRCm39)	R87G	possibly damaging	Het
Kcnc3	T	A	7: 44,245,352 (GRCm39)	Y547*	probably null	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lama1	G	A	17: 68,071,693 (GRCm39)	G860D	probably benign	Het
Lmo7	T	C	14: 102,124,609 (GRCm39)	L356P	probably damaging	Het
Lmo7	A	T	14: 102,133,995 (GRCm39)	K447I	probably damaging	Het
Lrp2bp	A	G	8: 46,464,995 (GRCm39)	H38R	probably damaging	Het
Magi3	G	A	3: 103,922,338 (GRCm39)	P1460S	probably damaging	Het
Megf8	T	A	7: 25,063,728 (GRCm39)	C2695S	possibly damaging	Het
Mrgprb2	T	G	7: 48,201,718 (GRCm39)	S336R	probably benign	Het
Mrgprx2	C	T	7: 48,132,712 (GRCm39)	M1I	probably null	Het
Mug2	T	C	6: 122,058,558 (GRCm39)	L1320P	probably damaging	Het
Noxred1	A	G	12: 87,273,838 (GRCm39)	S68P	probably benign	Het
Or51f5	T	A	7: 102,424,539 (GRCm39)	H269Q	probably benign	Het
Or56b1b	T	A	7: 108,164,879 (GRCm39)	Y41F	probably damaging	Het
Os9	C	T	10: 126,955,508 (GRCm39)	C123Y	probably damaging	Het
Ostf1	T	A	19: 18,573,723 (GRCm39)	T42S	probably benign	Het
Parg	C	A	14: 31,976,517 (GRCm39)	T186K	possibly damaging	Het
Pcnx1	T	A	12: 82,041,884 (GRCm39)	M2172K	probably benign	Het
Pip4k2a	A	G	2: 18,850,747 (GRCm39)	I360T	probably damaging	Het
Pkn2	T	C	3: 142,516,219 (GRCm39)	D568G	possibly damaging	Het
Plch2	A	G	4: 155,083,343 (GRCm39)	S431P	probably damaging	Het
Prl8a6	A	T	13: 27,616,990 (GRCm39)	C233*	probably null	Het
Prr5	A	G	15: 84,586,967 (GRCm39)	N248S	probably benign	Het
Psip1	A	C	4: 83,378,274 (GRCm39)	S407R	probably damaging	Het
Rab32	A	T	10: 10,426,640 (GRCm39)	V102E	probably damaging	Het
Rap1gap2	T	G	11: 74,279,680 (GRCm39)	K687Q	possibly damaging	Het
Rbak	A	T	5: 143,159,169 (GRCm39)	V628E	probably damaging	Het
Rnf148	T	C	6: 23,654,792 (GRCm39)	E68G	possibly damaging	Het
Rnf212	A	T	5: 108,897,308 (GRCm39)	S3T	probably damaging	Het
Rrad	T	G	8: 105,355,259 (GRCm39)	I250L	probably benign	Het
Sall4	T	C	2: 168,597,625 (GRCm39)	H405R	probably damaging	Het
Scn9a	T	C	2: 66,314,022 (GRCm39)	R1888G	probably damaging	Het
Setd5	G	T	6: 113,096,398 (GRCm39)	E535*	probably null	Het
Slc20a1	C	T	2: 129,041,811 (GRCm39)	S58L	probably damaging	Het
Slc31a1	A	G	4: 62,303,841 (GRCm39)		probably benign	Het
Slc38a11	G	T	2: 65,147,209 (GRCm39)	Q423K	probably benign	Het
Snrpd1	A	T	18: 10,626,846 (GRCm39)	T38S	possibly damaging	Het
Taar4	A	G	10: 23,836,780 (GRCm39)	D130G	probably damaging	Het
Tfb2m	C	T	1: 179,358,869 (GRCm39)	R338H	probably benign	Het
Tm2d2	A	G	8: 25,512,742 (GRCm39)	I197V	possibly damaging	Het
Tmem132a	C	T	19: 10,836,355 (GRCm39)	G725D	probably damaging	Het
Tmem67	T	C	4: 12,089,317 (GRCm39)	T38A	probably benign	Het
Tmprss15	A	T	16: 78,765,155 (GRCm39)	S816T	probably benign	Het
Tnfrsf11a	A	G	1: 105,754,717 (GRCm39)	E263G	probably damaging	Het
Tnfrsf17	C	T	16: 11,133,191 (GRCm39)	L90F	probably benign	Het
Tpr	A	G	1: 150,278,024 (GRCm39)	K117E	possibly damaging	Het
Trim43a	C	T	9: 88,466,389 (GRCm39)	Q5*	probably null	Het
Ubn1	A	T	16: 4,890,935 (GRCm39)	D498V	probably damaging	Het
Vipr1	T	A	9: 121,487,115 (GRCm39)	C63S	probably damaging	Het
Vmn1r237	T	A	17: 21,534,932 (GRCm39)	H218Q	possibly damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r95	T	C	17: 18,671,844 (GRCm39)	V527A	probably benign	Het
Vmn2r97	A	T	17: 19,134,734 (GRCm39)	T51S	probably benign	Het
Vwa8	G	A	14: 79,184,629 (GRCm39)	V376I	probably benign	Het
Wdfy4	T	A	14: 32,802,732 (GRCm39)	T1838S	probably benign	Het
Zcwpw1	A	T	5: 137,794,945 (GRCm39)	E47V	probably benign	Het
Zeb2	T	C	2: 44,892,659 (GRCm39)	E130G	possibly damaging	Het
Zfp111	A	G	7: 23,898,568 (GRCm39)	Y348H	probably damaging	Het
Zfp53	T	C	17: 21,729,271 (GRCm39)	S435P	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
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
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'- TTTGACCACCGTGTCCACAACC -3'
(R):5'- AGCAGCAGCAACAGAGTTTCCAG -3'

Sequencing Primer
(F):5'- TTAAGGTCTCTGCCAGATGC -3'
(R):5'- AAGACATGCAGAAGCAGCTG -3'

Posted On

2013-06-12