Incidental Mutation 'R2090:Prox1'
ID 231687
Institutional Source Beutler Lab
Gene Symbol Prox1
Ensembl Gene ENSMUSG00000010175
Gene Name prospero homeobox 1
Synonyms A230003G05Rik
MMRRC Submission 040095-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2090 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 189850232-189902911 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 189893009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 479 (S479C)
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: S479C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000010319
Gene: ENSMUSG00000010175
AA Change: S479C

DomainStartEndE-ValueType
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: S479C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135703
Gene: ENSMUSG00000010175
AA Change: S479C

DomainStartEndE-ValueType
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: S479C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135066
Gene: ENSMUSG00000010175
AA Change: S479C

DomainStartEndE-ValueType
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 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A G 8: 25,391,456 (GRCm39) probably null Het
Adcy7 A T 8: 89,042,485 (GRCm39) T451S probably damaging Het
Adgrg3 A T 8: 95,766,558 (GRCm39) T410S possibly damaging Het
Alg11 G T 8: 22,555,646 (GRCm39) L302F possibly damaging Het
Ankrd17 A G 5: 90,445,905 (GRCm39) V310A possibly damaging Het
Atg16l2 C T 7: 100,942,575 (GRCm39) probably null Het
B3gnt2 A G 11: 22,786,291 (GRCm39) V299A probably benign Het
Birc6 A G 17: 74,969,791 (GRCm39) N4258S probably benign Het
C2cd4d A G 3: 94,271,321 (GRCm39) K196E probably benign Het
Calhm6 A G 10: 34,002,358 (GRCm39) S242P probably damaging Het
Cdr2l A G 11: 115,281,827 (GRCm39) K111E probably damaging Het
Crtam T C 9: 40,895,612 (GRCm39) Q41R possibly damaging Het
Cspp1 A G 1: 10,160,493 (GRCm39) K560R possibly damaging Het
Dcaf15 A T 8: 84,824,400 (GRCm39) Y571* probably null Het
Defa39 A T 8: 22,192,805 (GRCm39) W64R possibly damaging Het
Dpy19l4 T C 4: 11,304,344 (GRCm39) Y99C probably benign Het
Edem3 C T 1: 151,680,577 (GRCm39) probably benign Het
Enpp6 A T 8: 47,518,405 (GRCm39) probably null Het
Foxf2 T A 13: 31,810,824 (GRCm39) D254E probably benign Het
Gjb5 T C 4: 127,249,794 (GRCm39) N117D probably benign Het
Glmn G A 5: 107,709,794 (GRCm39) L337F probably damaging Het
Gsdmc2 T A 15: 63,698,675 (GRCm39) Y307F probably benign Het
Gsdmc3 T A 15: 63,738,631 (GRCm39) M144L probably benign Het
Ibtk A G 9: 85,603,046 (GRCm39) I653T probably benign Het
Il24 T G 1: 130,812,574 (GRCm39) D99A possibly damaging Het
Intu A G 3: 40,637,966 (GRCm39) Q484R probably benign Het
Iqca1l A G 5: 24,755,674 (GRCm39) S283P probably benign Het
Lsp1 T C 7: 142,045,544 (GRCm39) probably benign Het
Mad1l1 A G 5: 139,995,011 (GRCm39) S672P probably benign Het
Man2a2 A T 7: 80,013,858 (GRCm39) probably benign Het
Morc3 C A 16: 93,663,341 (GRCm39) H515N probably benign Het
Nav1 T C 1: 135,534,903 (GRCm39) probably benign Het
Ndor1 A G 2: 25,139,230 (GRCm39) L247P probably damaging Het
Nfkbiz A T 16: 55,636,818 (GRCm39) F494L probably benign Het
Nr1d1 G A 11: 98,661,436 (GRCm39) P277S probably damaging Het
Nrg2 T C 18: 36,151,496 (GRCm39) D682G probably benign Het
Nrros C T 16: 31,962,975 (GRCm39) W311* probably null Het
Oasl1 G A 5: 115,073,993 (GRCm39) D301N probably damaging Het
Or10ag56 A T 2: 87,139,762 (GRCm39) I230F probably benign Het
Or14a258 A T 7: 86,035,289 (GRCm39) I193N probably benign Het
Or5h26 A G 16: 58,988,503 (GRCm39) M1T probably null Het
Palmd A G 3: 116,721,083 (GRCm39) S123P probably damaging Het
Patj A G 4: 98,325,560 (GRCm39) probably benign Het
Pcsk4 T C 10: 80,161,655 (GRCm39) D162G probably benign Het
Plppr5 A G 3: 117,369,520 (GRCm39) D59G possibly damaging Het
Pmvk A C 3: 89,369,189 (GRCm39) R11S possibly damaging Het
Pnliprp1 A G 19: 58,728,901 (GRCm39) T363A probably benign Het
Poll A T 19: 45,547,277 (GRCm39) I65N probably benign Het
Prss50 A T 9: 110,691,361 (GRCm39) S222C probably damaging Het
Rasa3 A C 8: 13,632,381 (GRCm39) probably benign Het
Sec14l3 T C 11: 4,025,481 (GRCm39) V335A probably benign Het
Setbp1 C T 18: 78,899,935 (GRCm39) S1244N probably benign Het
Sgcg A T 14: 61,483,213 (GRCm39) F63I probably damaging Het
Skp2 C A 15: 9,113,786 (GRCm39) G376C probably damaging Het
Slc2a13 T A 15: 91,400,695 (GRCm39) I176F probably benign Het
Smc6 A G 12: 11,339,987 (GRCm39) T432A probably benign Het
Snx25 G A 8: 46,509,150 (GRCm39) P478L probably damaging Het
Taf2 A T 15: 54,879,882 (GRCm39) H1151Q probably damaging Het
Thsd1 A G 8: 22,749,673 (GRCm39) K795R possibly damaging Het
Tmem108 G A 9: 103,361,976 (GRCm39) L537F possibly damaging Het
Ubr3 T C 2: 69,766,361 (GRCm39) Y410H probably damaging Het
Vav3 T C 3: 109,555,055 (GRCm39) probably null Het
Vmn1r224 T C 17: 20,639,524 (GRCm39) Y34H probably benign Het
Zeb1 T C 18: 5,766,458 (GRCm39) V323A possibly damaging Het
Zfp652 A G 11: 95,644,834 (GRCm39) D240G probably benign Het
Zfp963 A T 8: 70,195,996 (GRCm39) C152* probably null Het
Other mutations in Prox1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AAGAGAGTCCTTCTGCGGTG -3'
(R):5'- GAACCCCTTGGACACCTTTG -3'

Sequencing Primer
(F):5'- GAACAGGGGTGGTGGCTC -3'
(R):5'- ACACCTTTGGCAGTGTGC -3'
Posted On 2014-09-18