Mutagenetix > Incidental Mutation

Incidental Mutation 'R8070:Prox1'

620205

Institutional Source

Beutler Lab

Gene Symbol

Prox1

Ensembl Gene

ENSMUSG00000010175

Gene Name

prospero homeobox 1

Synonyms

A230003G05Rik

MMRRC Submission

067505-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8070 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

189850232-189902911 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 189893107 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 446 (N446T)

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: N446T

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000010319
Gene: ENSMUSG00000010175
AA Change: N446T

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: N446T

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135703
Gene: ENSMUSG00000010175
AA Change: N446T

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: N446T

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135066
Gene: ENSMUSG00000010175
AA Change: N446T

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: 100.0%
10x: 99.8%
20x: 99.3%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	A	G	5: 64,055,510 (GRCm39)	E82G	probably benign	Het
9830107B12Rik	A	G	17: 48,452,681 (GRCm39)	F86S	probably damaging	Het
Aamdc	A	T	7: 97,224,855 (GRCm39)	Y2*	probably null	Het
Acta1	T	A	8: 124,620,360 (GRCm39)	D26V	possibly damaging	Het
Adra1d	A	C	2: 131,403,502 (GRCm39)	L196R	probably damaging	Het
Agbl2	G	A	2: 90,621,909 (GRCm39)	C132Y	probably benign	Het
Amd1	A	G	10: 40,170,226 (GRCm39)	V92A	probably benign	Het
Arid4b	T	A	13: 14,310,844 (GRCm39)	I149K	probably benign	Het
Atg7	A	G	6: 114,674,041 (GRCm39)	M312V	probably benign	Het
Bap1	T	A	14: 30,978,643 (GRCm39)	V381E	probably damaging	Het
Cbfa2t3	C	T	8: 123,369,720 (GRCm39)	V207I	possibly damaging	Het
Cdh24	T	C	14: 54,870,030 (GRCm39)	Q629R	probably benign	Het
Cdhr2	G	T	13: 54,867,606 (GRCm39)	V479L	probably benign	Het
Chd2	A	G	7: 73,101,506 (GRCm39)	S1407P	probably benign	Het
Clstn2	A	G	9: 97,681,523 (GRCm39)	V39A	possibly damaging	Het
Cwh43	T	A	5: 73,578,806 (GRCm39)	M357K	possibly damaging	Het
Dcdc2a	T	A	13: 25,386,180 (GRCm39)	D351E	probably benign	Het
Dennd6b	T	C	15: 89,069,576 (GRCm39)	I517V	probably benign	Het
Dnah17	T	C	11: 117,915,497 (GRCm39)	E4374G	probably damaging	Het
Emsy	A	G	7: 98,275,922 (GRCm39)	S336P	possibly damaging	Het
Enoph1	A	T	5: 100,208,841 (GRCm39)	E65D	probably benign	Het
Fam83f	T	A	15: 80,556,281 (GRCm39)	L55Q	probably damaging	Het
Fry	T	C	5: 150,401,472 (GRCm39)	F379L		Het
Fscb	A	T	12: 64,521,382 (GRCm39)	M28K	probably benign	Het
Gas7	G	A	11: 67,574,260 (GRCm39)	V412M	probably damaging	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gcn1	T	A	5: 115,727,057 (GRCm39)	V638E	probably benign	Het
Ggt1	A	T	10: 75,414,733 (GRCm39)	I184F	probably damaging	Het
Gigyf2	A	G	1: 87,368,629 (GRCm39)	N1103S	probably benign	Het
Gm5592	G	A	7: 40,935,887 (GRCm39)	A130T	possibly damaging	Het
Gys2	T	C	6: 142,394,230 (GRCm39)		probably null	Het
Hmcn1	C	A	1: 150,525,743 (GRCm39)	E3327*	probably null	Het
Ighv1-36	C	T	12: 114,843,656 (GRCm39)	G68E	probably damaging	Het
Igkv6-32	G	A	6: 70,051,089 (GRCm39)	T89M	probably damaging	Het
Ipo7	A	G	7: 109,652,014 (GRCm39)	D931G	probably benign	Het
Jakmip1	A	G	5: 37,330,631 (GRCm39)	E437G	probably benign	Het
Lingo3	C	T	10: 80,671,955 (GRCm39)		probably benign	Het
Lnpep	A	G	17: 17,758,900 (GRCm39)	S815P	probably damaging	Het
Ly6a	T	C	15: 74,869,449 (GRCm39)	D2G	probably damaging	Het
Madd	C	A	2: 90,988,359 (GRCm39)	E1223*	probably null	Het
Mapk8ip3	A	T	17: 25,120,078 (GRCm39)		probably null	Het
Mecom	T	C	3: 30,033,987 (GRCm39)	E239G	probably damaging	Het
Mug1	T	C	6: 121,852,838 (GRCm39)	V889A	probably benign	Het
Myo18b	T	A	5: 112,938,986 (GRCm39)	N1675I	probably benign	Het
Ndrg4	T	C	8: 96,426,756 (GRCm39)	F50L	possibly damaging	Het
Ndst4	A	G	3: 125,508,293 (GRCm39)	Y286C	probably damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Olfm3	A	G	3: 114,895,604 (GRCm39)	D195G	probably damaging	Het
Or2y14	A	T	11: 49,404,941 (GRCm39)	T159S	probably damaging	Het
Or4p21	G	T	2: 88,277,003 (GRCm39)	T93K	probably benign	Het
Pds5a	A	G	5: 65,809,741 (GRCm39)	L407P	possibly damaging	Het
Pgm2	A	G	5: 64,269,425 (GRCm39)	N504S	probably benign	Het
Plce1	A	G	19: 38,690,283 (GRCm39)	M656V	probably damaging	Het
Pou6f2	T	C	13: 18,414,209 (GRCm39)	T189A	unknown	Het
Ppp1r12b	T	C	1: 134,803,807 (GRCm39)	S451G	probably benign	Het
Ralgapa2	T	A	2: 146,195,199 (GRCm39)	R1195S	probably damaging	Het
Rere	A	G	4: 150,701,832 (GRCm39)	D37G	probably damaging	Het
Tfip11	T	A	5: 112,482,796 (GRCm39)	M560K	possibly damaging	Het
Thop1	T	C	10: 80,915,320 (GRCm39)	V260A	probably damaging	Het
Tle6	A	G	10: 81,434,476 (GRCm39)	M41T	possibly damaging	Het
Trav13d-4	T	C	14: 53,995,249 (GRCm39)	S68P	possibly damaging	Het
Trim24	A	G	6: 37,934,661 (GRCm39)	N826S	probably damaging	Het
Tuba3a	T	C	6: 125,255,433 (GRCm39)	E414G	probably damaging	Het
Vmn2r78	A	G	7: 86,571,695 (GRCm39)	I502V	probably benign	Het
Vmn2r79	A	T	7: 86,651,336 (GRCm39)	Y245F	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
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
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'- ACTTGTTGTGTCCCGAGTCAAG -3'
(R):5'- AGGCCAGATTCGCAGTCAAC -3'

Sequencing Primer
(F):5'- TGTCCCGAGTCAAGTCTAAGGAC -3'
(R):5'- TTCGCAGTCAACGGGGAAAAC -3'

Posted On

2020-01-23