Incidental Mutation 'R1299:Prox1'
ID 158235
Institutional Source Beutler Lab
Gene Symbol Prox1
Ensembl Gene ENSMUSG00000010175
Gene Name prospero homeobox 1
Synonyms A230003G05Rik
MMRRC Submission 039365-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1299 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 189850232-189902911 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 189879140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010319] [ENSMUST00000175916] [ENSMUST00000177288]
AlphaFold P48437
Predicted Effect probably benign
Transcript: ENSMUST00000010319
SMART Domains Protein: ENSMUSP00000010319
Gene: ENSMUSG00000010175

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 benign
Transcript: ENSMUST00000175916
SMART Domains Protein: ENSMUSP00000135703
Gene: ENSMUSG00000010175

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 benign
Transcript: ENSMUST00000177288
SMART Domains Protein: ENSMUSP00000135066
Gene: ENSMUSG00000010175

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 100% (38/38)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,244,821 (GRCm39) L2228P possibly damaging Het
Acnat1 T A 4: 49,450,925 (GRCm39) E62V possibly damaging Het
Adam7 A G 14: 68,763,748 (GRCm39) probably benign Het
Ate1 A T 7: 130,106,485 (GRCm39) V292D probably damaging Het
Cbx8 T C 11: 118,931,676 (GRCm39) M1V probably null Het
Cdc73 T C 1: 143,575,019 (GRCm39) D58G probably benign Het
Cgnl1 G A 9: 71,628,994 (GRCm39) probably benign Het
Col27a1 G A 4: 63,183,868 (GRCm39) probably benign Het
Fam133b T C 5: 3,604,626 (GRCm39) probably benign Het
Fndc3a A G 14: 72,803,638 (GRCm39) probably benign Het
Golga3 G A 5: 110,352,709 (GRCm39) A867T probably benign Het
Gpr142 A T 11: 114,695,185 (GRCm39) Y50F probably benign Het
Gramd1c A G 16: 43,803,865 (GRCm39) probably benign Het
Gypa G A 8: 81,223,382 (GRCm39) V53I unknown Het
H2-DMb2 T C 17: 34,369,561 (GRCm39) V235A probably benign Het
Igkv10-94 T C 6: 68,681,482 (GRCm39) probably benign Het
Katnip A C 7: 125,451,195 (GRCm39) M1109L probably benign Het
Klhl17 T C 4: 156,315,419 (GRCm39) Y484C probably damaging Het
Ltbp3 T C 19: 5,795,456 (GRCm39) probably benign Het
Mapkbp1 G A 2: 119,845,885 (GRCm39) C412Y probably damaging Het
Mblac2 C A 13: 81,859,845 (GRCm39) C65* probably null Het
Or5b104 T A 19: 13,072,494 (GRCm39) N173Y possibly damaging Het
Or6c217 A G 10: 129,737,946 (GRCm39) I211T probably benign Het
Parn G A 16: 13,482,593 (GRCm39) T85M probably benign Het
Pcdhb22 T C 18: 37,653,643 (GRCm39) S704P probably damaging Het
Prex1 A G 2: 166,427,827 (GRCm39) F942L possibly damaging Het
Prss55 A T 14: 64,319,147 (GRCm39) I70N probably damaging Het
Slc25a13 C T 6: 6,113,937 (GRCm39) probably null Het
Smarca2 T C 19: 26,749,011 (GRCm39) probably null Het
Smarcc2 C A 10: 128,297,247 (GRCm39) N46K probably damaging Het
Tdpoz4 A T 3: 93,703,769 (GRCm39) Y22F probably benign Het
Tgfbr1 T A 4: 47,396,587 (GRCm39) probably null Het
Xpr1 A C 1: 155,292,949 (GRCm39) I11S probably damaging Het
Zfp354b A C 11: 50,814,297 (GRCm39) S209R probably benign Het
Zfp882 A G 8: 72,667,317 (GRCm39) E88G probably damaging 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
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'- GGAAGCTCCCGGTTGCTAATCTAC -3'
(R):5'- TGCATTACCTCGCAGCTCATCAAG -3'

Sequencing Primer
(F):5'- TCGGAGTCCTttccacagag -3'
(R):5'- AGCTCATCAAGTGGTTCAGC -3'
Posted On 2014-02-18