Incidental Mutation 'R7572:Prox1'
ID 586059
Institutional Source Beutler Lab
Gene Symbol Prox1
Ensembl Gene ENSMUSG00000010175
Gene Name prospero homeobox 1
Synonyms A230003G05Rik
MMRRC Submission 045658-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7572 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 189850232-189902911 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 189855583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 683 (E683G)
Ref Sequence ENSEMBL: ENSMUSP00000010319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010319] [ENSMUST00000175916] [ENSMUST00000177288]
AlphaFold P48437
Predicted Effect probably benign
Transcript: ENSMUST00000010319
AA Change: E683G

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000010319
Gene: ENSMUSG00000010175
AA Change: E683G

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
AA Change: E683G

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000135703
Gene: ENSMUSG00000010175
AA Change: E683G

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
AA Change: E683G

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000135066
Gene: ENSMUSG00000010175
AA Change: E683G

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 0.3593 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 95% (56/59)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik T A 14: 59,380,128 (GRCm39) T57S possibly damaging Het
Adamts1 A G 16: 85,594,629 (GRCm39) Y670H possibly damaging Het
Akr1b7 A T 6: 34,396,343 (GRCm39) I185F probably damaging Het
Ankfn1 T C 11: 89,312,097 (GRCm39) N683D probably benign Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Chrna5 T A 9: 54,913,749 (GRCm39) W432R probably damaging Het
Chrng T A 1: 87,136,836 (GRCm39) L235Q probably damaging Het
Ciao1 A T 2: 127,088,631 (GRCm39) C97* probably null Het
Cpt2 G T 4: 107,764,745 (GRCm39) H340N probably damaging Het
Dmtn A T 14: 70,842,777 (GRCm39) M328K possibly damaging Het
Dusp10 T A 1: 183,806,506 (GRCm39) V413E probably damaging Het
Epha3 A T 16: 63,431,443 (GRCm39) L487* probably null Het
Esco2 A G 14: 66,068,641 (GRCm39) V223A probably damaging Het
Fryl A T 5: 73,245,739 (GRCm39) D1139E possibly damaging Het
Gemin4 A G 11: 76,104,408 (GRCm39) S118P probably damaging Het
Gm3604 A G 13: 62,518,060 (GRCm39) I79T probably damaging Het
Gpatch3 T C 4: 133,302,117 (GRCm39) V16A probably benign Het
Hcn4 A G 9: 58,731,063 (GRCm39) N90S unknown Het
Hr C T 14: 70,799,293 (GRCm39) H593Y possibly damaging Het
Igkv4-50 A G 6: 69,677,951 (GRCm39) V51A probably damaging Het
Insr C A 8: 3,223,602 (GRCm39) V844F probably benign Het
Iqcn T C 8: 71,162,075 (GRCm39) S423P probably benign Het
Kcns2 T C 15: 34,839,318 (GRCm39) F227S possibly damaging Het
Map4k1 A G 7: 28,686,563 (GRCm39) I162V probably benign Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Neurog2 A G 3: 127,427,550 (GRCm39) E58G probably damaging Het
Or4x6 T C 2: 89,949,087 (GRCm39) Y285C probably damaging Het
Or5h25 T A 16: 58,930,793 (GRCm39) Y60F probably damaging Het
Or7e174 T G 9: 20,012,154 (GRCm39) L33W probably damaging Het
Orc4 A T 2: 48,800,248 (GRCm39) M300K probably benign Het
Plch1 T C 3: 63,648,105 (GRCm39) D422G possibly damaging Het
Pxdn A G 12: 30,056,704 (GRCm39) D1305G probably damaging Het
Rcor3 C A 1: 191,822,173 (GRCm39) G8V probably damaging Het
Rex2 T G 4: 147,142,329 (GRCm39) I272M probably damaging Het
Rpa2 T C 4: 132,496,014 (GRCm39) S12P possibly damaging Het
Samd15 C A 12: 87,248,350 (GRCm39) P345Q probably damaging Het
Sema5a T A 15: 32,673,574 (GRCm39) I804N probably damaging Het
Sgsm3 G A 15: 80,891,667 (GRCm39) R165H possibly damaging Het
Slc22a30 T G 19: 8,313,072 (GRCm39) M467L unknown Het
Slc2a5 T C 4: 150,226,642 (GRCm39) I368T probably benign Het
Slc8a1 A T 17: 81,749,200 (GRCm39) probably null Het
Snap91 T C 9: 86,688,547 (GRCm39) T331A possibly damaging Het
Soat2 G T 15: 102,062,456 (GRCm39) probably null Het
Sptbn4 C A 7: 27,071,697 (GRCm39) R1589L probably damaging Het
Stk38l A G 6: 146,677,152 (GRCm39) Y443C probably damaging Het
Sult5a1 T C 8: 123,872,117 (GRCm39) I242V probably benign Het
Susd3 T C 13: 49,384,638 (GRCm39) R262G probably benign Het
Syt9 A G 7: 107,035,784 (GRCm39) D267G probably damaging Het
Tbce A G 13: 14,185,172 (GRCm39) V172A probably benign Het
Tcstv3 A T 13: 120,779,107 (GRCm39) D2V possibly damaging Het
Tmod1 T A 4: 46,083,593 (GRCm39) S7R possibly damaging Het
Ubqln4 C T 3: 88,462,731 (GRCm39) probably benign Het
Ucp2 T C 7: 100,146,514 (GRCm39) probably null Het
Usp30 G A 5: 114,258,308 (GRCm39) S306N probably benign Het
Usp5 A T 6: 124,794,970 (GRCm39) I660N probably damaging Het
Vmn1r43 A G 6: 89,846,547 (GRCm39) V313A possibly damaging Het
Wdr49 T C 3: 75,265,744 (GRCm39) H234R possibly damaging Het
Wdr70 T C 15: 8,065,327 (GRCm39) D245G possibly damaging Het
Zc3h6 A G 2: 128,859,172 (GRCm39) K1068E probably benign Het
Zfp141 T C 7: 42,124,856 (GRCm39) K539E probably benign Het
Zfp758 T A 17: 22,593,872 (GRCm39) H119Q possibly 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
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
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'- TCCATACATTCAAAAGAGCGTTGC -3'
(R):5'- CGCCGTCTATCACAATGCTG -3'

Sequencing Primer
(F):5'- GCAATCTCTACTCGTGAAGGAGTTC -3'
(R):5'- TGCTGCTATATTTAACAACTCCACAC -3'
Posted On 2019-10-24