Incidental Mutation 'R0069:Prox1'
ID 33082
Institutional Source Beutler Lab
Gene Symbol Prox1
Ensembl Gene ENSMUSG00000010175
Gene Name prospero homeobox 1
Synonyms A230003G05Rik
MMRRC Submission 038360-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0069 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 1
Chromosomal Location 189850232-189902911 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 189893116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 443 (V443A)
Ref Sequence ENSEMBL: ENSMUSP00000135066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010319] [ENSMUST00000175916] [ENSMUST00000177288]
AlphaFold P48437
Predicted Effect possibly damaging
Transcript: ENSMUST00000010319
AA Change: V443A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000010319
Gene: ENSMUSG00000010175
AA Change: V443A

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 possibly damaging
Transcript: ENSMUST00000175916
AA Change: V443A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000135703
Gene: ENSMUSG00000010175
AA Change: V443A

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 possibly damaging
Transcript: ENSMUST00000177288
AA Change: V443A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000135066
Gene: ENSMUSG00000010175
AA Change: V443A

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 0.1695 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.4%
Validation Efficiency 96% (52/54)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,538,525 (GRCm39) C632S probably damaging Het
Antxr2 T A 5: 98,096,109 (GRCm39) M392L possibly damaging Het
Cd101 A G 3: 100,915,533 (GRCm39) V678A probably benign Het
Clec2g T C 6: 128,957,274 (GRCm39) probably null Het
Clec2g T A 6: 128,925,716 (GRCm39) S42T probably benign Het
Creb1 A G 1: 64,615,367 (GRCm39) I240V possibly damaging Het
D2hgdh G T 1: 93,763,009 (GRCm39) V265L possibly damaging Het
Dctn2 A T 10: 127,113,354 (GRCm39) probably null Het
Diablo A T 5: 123,656,087 (GRCm39) S117R probably damaging Het
Ebf2 A T 14: 67,647,499 (GRCm39) R349S probably damaging Het
Fam168a C T 7: 100,484,618 (GRCm39) A252V probably benign Het
Fbn2 T C 18: 58,202,256 (GRCm39) Y1299C probably damaging Het
Gne A C 4: 44,060,099 (GRCm39) V98G probably damaging Het
Hk2 A G 6: 82,713,509 (GRCm39) probably null Het
Ifi206 A T 1: 173,314,413 (GRCm39) V9D probably damaging Het
Ints3 A G 3: 90,307,954 (GRCm39) probably benign Het
Itgal A G 7: 126,909,503 (GRCm39) T56A probably benign Het
Lzts3 T A 2: 130,478,460 (GRCm39) T213S probably benign Het
Map1b A G 13: 99,566,356 (GRCm39) S2122P unknown Het
Mei4 C T 9: 81,907,635 (GRCm39) Q223* probably null Het
Mpzl3 T C 9: 44,979,550 (GRCm39) V167A probably damaging Het
Myo1d A G 11: 80,528,779 (GRCm39) I681T probably damaging Het
Myom2 A G 8: 15,167,624 (GRCm39) T1070A probably benign Het
Nacc1 T A 8: 85,403,828 (GRCm39) I16F probably damaging Het
Nfx1 T C 4: 40,986,688 (GRCm39) probably benign Het
Or10ak12 A T 4: 118,666,887 (GRCm39) V58D probably damaging Het
Or8g33 A G 9: 39,338,188 (GRCm39) Y60H probably damaging Het
Ostm1 A C 10: 42,568,952 (GRCm39) D37A probably benign Het
Pde8a T C 7: 80,968,871 (GRCm39) probably benign Het
Pole2 A T 12: 69,256,661 (GRCm39) V288E probably damaging Het
Poteg T C 8: 27,937,849 (GRCm39) S2P probably benign Het
Ppp2r5c A T 12: 110,534,204 (GRCm39) M356L probably benign Het
Prkdc G A 16: 15,544,368 (GRCm39) S1786N probably benign Het
Prpf6 T A 2: 181,257,756 (GRCm39) probably null Het
Ptger1 A T 8: 84,394,948 (GRCm39) T142S possibly damaging Het
Rad54l2 C A 9: 106,587,564 (GRCm39) V734L possibly damaging Het
Rnpepl1 T A 1: 92,846,620 (GRCm39) N507K possibly damaging Het
Slc38a10 A T 11: 119,997,328 (GRCm39) V722E probably damaging Het
Slfn10-ps A G 11: 82,926,368 (GRCm39) noncoding transcript Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Sult1e1 A T 5: 87,727,756 (GRCm39) H175Q probably damaging Het
Ube2e3 C A 2: 78,750,293 (GRCm39) probably benign Het
Vmn1r208 A T 13: 22,956,595 (GRCm39) W301R probably benign Het
Vps13d A G 4: 144,789,133 (GRCm39) I746T probably benign Het
Xpnpep3 T C 15: 81,314,999 (GRCm39) V233A probably benign Het
Zfp329 A T 7: 12,544,859 (GRCm39) S222T probably damaging Het
Zswim6 T C 13: 107,875,098 (GRCm39) noncoding transcript 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
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
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'- ACTTGTTGTGTCCCGAGTCAAGTC -3'
(R):5'- GGTCAAAGTCTTCTCAGCCAAACCC -3'

Sequencing Primer
(F):5'- TGTCCCGAGTCAAGTCTAAGG -3'
(R):5'- AAACCCTCTCGCCAGGTTC -3'
Posted On 2013-05-09