Incidental Mutation 'R1536:Prom1'
ID 169520
Institutional Source Beutler Lab
Gene Symbol Prom1
Ensembl Gene ENSMUSG00000029086
Gene Name prominin 1
Synonyms Prom-1, 4932416E19Rik, Prom, AC133, CD133
MMRRC Submission 039575-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.326) question?
Stock # R1536 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 44150962-44259374 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44175695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 508 (Y508F)
Ref Sequence ENSEMBL: ENSMUSP00000030973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030973] [ENSMUST00000074113] [ENSMUST00000087441] [ENSMUST00000087442] [ENSMUST00000165909] [ENSMUST00000171543] [ENSMUST00000197706] [ENSMUST00000177946] [ENSMUST00000179059] [ENSMUST00000197750]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000030973
AA Change: Y508F

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000030973
Gene: ENSMUSG00000029086
AA Change: Y508F

DomainStartEndE-ValueType
Pfam:Prominin 11 326 1.5e-113 PFAM
Pfam:Prominin 322 798 4.6e-188 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000074113
AA Change: Y542F

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000073751
Gene: ENSMUSG00000029086
AA Change: Y542F

DomainStartEndE-ValueType
low complexity region 8 13 N/A INTRINSIC
Pfam:Prominin 18 822 2e-294 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000087441
AA Change: Y533F

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000084707
Gene: ENSMUSG00000029086
AA Change: Y533F

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000087442
AA Change: Y533F

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000084709
Gene: ENSMUSG00000029086
AA Change: Y533F

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165909
AA Change: Y533F

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000129909
Gene: ENSMUSG00000029086
AA Change: Y533F

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171543
AA Change: Y542F

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000128978
Gene: ENSMUSG00000029086
AA Change: Y542F

DomainStartEndE-ValueType
Pfam:Prominin 11 838 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197706
AA Change: Y503F

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000142632
Gene: ENSMUSG00000029086
AA Change: Y503F

DomainStartEndE-ValueType
Pfam:Prominin 11 321 6.6e-110 PFAM
Pfam:Prominin 317 793 6.8e-188 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177946
AA Change: Y533F

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000136483
Gene: ENSMUSG00000029086
AA Change: Y533F

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179059
AA Change: Y542F

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000137557
Gene: ENSMUSG00000029086
AA Change: Y542F

DomainStartEndE-ValueType
Pfam:Prominin 11 838 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197750
AA Change: Y533F

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000142375
Gene: ENSMUSG00000029086
AA Change: Y533F

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196853
Meta Mutation Damage Score 0.2033 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.5%
Validation Efficiency 98% (59/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal retina morphology, vasculature, and electrophysiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A T 5: 88,118,524 (GRCm39) I3F probably benign Het
4930590J08Rik A G 6: 91,894,016 (GRCm39) N211S probably benign Het
A2ml1 A T 6: 128,524,196 (GRCm39) Y1145* probably null Het
Abca7 A G 10: 79,850,064 (GRCm39) D1972G probably benign Het
Adamts19 A T 18: 59,185,687 (GRCm39) D1187V probably damaging Het
Adcy6 G C 15: 98,497,888 (GRCm39) I421M probably damaging Het
Afap1 C A 5: 36,131,835 (GRCm39) H387Q probably damaging Het
Atp8b1 C T 18: 64,678,335 (GRCm39) V854M probably damaging Het
Auts2 C T 5: 131,516,302 (GRCm39) probably benign Het
Cbll1 T C 12: 31,537,855 (GRCm39) D300G probably damaging Het
Cd200r4 A T 16: 44,653,412 (GRCm39) T61S possibly damaging Het
Chmp4c G T 3: 10,454,744 (GRCm39) V207L probably benign Het
Cntn5 T C 9: 9,976,321 (GRCm39) T413A possibly damaging Het
Cox7a2 T A 9: 79,665,863 (GRCm39) probably null Het
Cwc27 A G 13: 104,933,814 (GRCm39) L236P probably damaging Het
Diaph1 A G 18: 38,029,146 (GRCm39) probably null Het
Dst T A 1: 34,299,453 (GRCm39) probably benign Het
Ear1 T A 14: 44,056,583 (GRCm39) H95L probably damaging Het
Enpp1 T A 10: 24,517,732 (GRCm39) H898L probably benign Het
Entpd5 G A 12: 84,429,069 (GRCm39) R321* probably null Het
Ercc6l2 C A 13: 63,972,685 (GRCm39) N177K possibly damaging Het
Ergic1 T C 17: 26,860,680 (GRCm39) probably null Het
Erich6 A T 3: 58,534,019 (GRCm39) I336N probably benign Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Galnt3 A T 2: 65,914,550 (GRCm39) D622E probably damaging Het
Gjd4 T A 18: 9,280,569 (GRCm39) T170S probably damaging Het
Gm5611 G A 9: 16,941,903 (GRCm39) noncoding transcript Het
Gpc5 T A 14: 115,636,662 (GRCm39) N448K probably benign Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Maco1 A G 4: 134,531,818 (GRCm39) V617A probably damaging Het
Man2b2 T C 5: 36,978,271 (GRCm39) T338A probably benign Het
Mbtps1 A T 8: 120,272,864 (GRCm39) S94T probably benign Het
Muc3a A T 5: 137,244,538 (GRCm39) S205T unknown Het
Nav2 C A 7: 49,195,682 (GRCm39) D1019E probably damaging Het
Neurl4 T A 11: 69,794,252 (GRCm39) L236* probably null Het
Or13c25 A G 4: 52,911,260 (GRCm39) V178A probably benign Het
Plcxd3 T C 15: 4,546,093 (GRCm39) probably benign Het
Pprc1 T C 19: 46,059,965 (GRCm39) probably benign Het
Prkaa2 T A 4: 104,932,647 (GRCm39) N67I probably damaging Het
Prx A G 7: 27,216,683 (GRCm39) M534V probably damaging Het
Rps6kc1 C T 1: 190,603,965 (GRCm39) R219Q possibly damaging Het
Sbf2 T C 7: 109,977,250 (GRCm39) Y628C probably damaging Het
Slc1a2 A T 2: 102,607,855 (GRCm39) D501V probably benign Het
Spata31 A T 13: 65,069,196 (GRCm39) Q448L probably damaging Het
Stk35 T C 2: 129,653,155 (GRCm39) probably benign Het
Stxbp5 T A 10: 9,713,836 (GRCm39) R234S probably damaging Het
Tifab A G 13: 56,324,101 (GRCm39) V114A probably benign Het
Tiprl A G 1: 165,055,975 (GRCm39) M49T probably benign Het
Tlr12 A G 4: 128,511,545 (GRCm39) L235P possibly damaging Het
Trim43b A T 9: 88,967,411 (GRCm39) C407* probably null Het
Txndc17 C A 11: 72,098,533 (GRCm39) F28L probably damaging Het
Vmn2r27 T C 6: 124,177,649 (GRCm39) R452G probably damaging Het
Vmn2r3 T A 3: 64,182,538 (GRCm39) D387V probably damaging Het
Vps13b T C 15: 35,875,712 (GRCm39) I2699T probably damaging Het
Zfp944 G T 17: 22,558,697 (GRCm39) Y183* probably null Het
Other mutations in Prom1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Prom1 APN 5 44,213,279 (GRCm39) missense probably damaging 1.00
IGL00392:Prom1 APN 5 44,164,363 (GRCm39) critical splice donor site probably null
IGL00771:Prom1 APN 5 44,187,118 (GRCm39) splice site probably benign
IGL00841:Prom1 APN 5 44,220,458 (GRCm39) splice site probably benign
IGL01780:Prom1 APN 5 44,186,946 (GRCm39) splice site probably benign
IGL01991:Prom1 APN 5 44,204,848 (GRCm39) missense probably benign 0.13
IGL02220:Prom1 APN 5 44,172,131 (GRCm39) missense probably damaging 1.00
IGL02350:Prom1 APN 5 44,186,946 (GRCm39) splice site probably benign
IGL02357:Prom1 APN 5 44,186,946 (GRCm39) splice site probably benign
IGL02420:Prom1 APN 5 44,220,496 (GRCm39) missense probably benign 0.15
IGL02468:Prom1 APN 5 44,187,040 (GRCm39) missense probably benign 0.01
IGL02633:Prom1 APN 5 44,172,117 (GRCm39) missense probably benign 0.20
IGL02871:Prom1 APN 5 44,187,018 (GRCm39) missense probably damaging 1.00
IGL02967:Prom1 APN 5 44,201,740 (GRCm39) missense probably damaging 1.00
IGL03033:Prom1 APN 5 44,163,502 (GRCm39) splice site probably null
IGL03072:Prom1 APN 5 44,216,004 (GRCm39) intron probably benign
IGL03149:Prom1 APN 5 44,187,076 (GRCm39) missense probably damaging 0.99
IGL03277:Prom1 APN 5 44,190,313 (GRCm39) nonsense probably null
BB001:Prom1 UTSW 5 44,187,111 (GRCm39) missense probably benign 0.03
BB011:Prom1 UTSW 5 44,187,111 (GRCm39) missense probably benign 0.03
R1018:Prom1 UTSW 5 44,187,056 (GRCm39) missense probably benign 0.02
R1456:Prom1 UTSW 5 44,194,965 (GRCm39) missense probably damaging 0.96
R1458:Prom1 UTSW 5 44,190,274 (GRCm39) splice site probably benign
R1747:Prom1 UTSW 5 44,164,373 (GRCm39) missense probably benign 0.03
R1772:Prom1 UTSW 5 44,168,566 (GRCm39) missense probably benign 0.00
R2020:Prom1 UTSW 5 44,168,595 (GRCm39) splice site probably benign
R2022:Prom1 UTSW 5 44,187,068 (GRCm39) missense probably benign 0.18
R2091:Prom1 UTSW 5 44,171,428 (GRCm39) splice site probably benign
R2163:Prom1 UTSW 5 44,171,505 (GRCm39) missense possibly damaging 0.72
R2177:Prom1 UTSW 5 44,184,081 (GRCm39) missense possibly damaging 0.67
R3015:Prom1 UTSW 5 44,191,733 (GRCm39) missense probably damaging 1.00
R3022:Prom1 UTSW 5 44,204,916 (GRCm39) missense probably damaging 1.00
R4824:Prom1 UTSW 5 44,191,732 (GRCm39) missense probably damaging 0.98
R4909:Prom1 UTSW 5 44,202,894 (GRCm39) missense probably benign 0.00
R4999:Prom1 UTSW 5 44,194,876 (GRCm39) missense probably benign 0.00
R5082:Prom1 UTSW 5 44,158,174 (GRCm39) splice site probably null
R5351:Prom1 UTSW 5 44,201,697 (GRCm39) missense probably damaging 1.00
R5401:Prom1 UTSW 5 44,158,147 (GRCm39) missense probably damaging 0.99
R5440:Prom1 UTSW 5 44,215,988 (GRCm39) missense probably benign
R5529:Prom1 UTSW 5 44,184,110 (GRCm39) missense probably damaging 1.00
R5537:Prom1 UTSW 5 44,158,118 (GRCm39) critical splice donor site probably null
R5669:Prom1 UTSW 5 44,170,285 (GRCm39) missense possibly damaging 0.64
R5723:Prom1 UTSW 5 44,172,236 (GRCm39) missense probably benign 0.30
R5778:Prom1 UTSW 5 44,164,389 (GRCm39) missense probably benign 0.13
R5924:Prom1 UTSW 5 44,162,305 (GRCm39) missense probably benign 0.02
R6034:Prom1 UTSW 5 44,201,750 (GRCm39) critical splice acceptor site probably null
R6034:Prom1 UTSW 5 44,201,750 (GRCm39) critical splice acceptor site probably null
R6038:Prom1 UTSW 5 44,159,135 (GRCm39) missense probably damaging 1.00
R6038:Prom1 UTSW 5 44,159,135 (GRCm39) missense probably damaging 1.00
R6145:Prom1 UTSW 5 44,186,991 (GRCm39) missense probably benign 0.05
R6374:Prom1 UTSW 5 44,213,325 (GRCm39) missense probably damaging 1.00
R6542:Prom1 UTSW 5 44,194,851 (GRCm39) missense possibly damaging 0.84
R6645:Prom1 UTSW 5 44,204,856 (GRCm39) missense probably damaging 0.98
R7158:Prom1 UTSW 5 44,170,255 (GRCm39) missense probably damaging 1.00
R7233:Prom1 UTSW 5 44,194,816 (GRCm39) missense possibly damaging 0.90
R7244:Prom1 UTSW 5 44,178,242 (GRCm39) missense probably benign 0.03
R7339:Prom1 UTSW 5 44,258,995 (GRCm39) unclassified probably benign
R7365:Prom1 UTSW 5 44,178,173 (GRCm39) missense probably damaging 1.00
R7573:Prom1 UTSW 5 44,213,272 (GRCm39) missense probably damaging 0.99
R7592:Prom1 UTSW 5 44,220,469 (GRCm39) missense probably damaging 0.96
R7809:Prom1 UTSW 5 44,178,209 (GRCm39) missense probably benign 0.10
R7915:Prom1 UTSW 5 44,162,277 (GRCm39) missense possibly damaging 0.88
R7924:Prom1 UTSW 5 44,187,111 (GRCm39) missense probably benign 0.03
R8122:Prom1 UTSW 5 44,170,295 (GRCm39) missense probably benign 0.12
R8187:Prom1 UTSW 5 44,191,708 (GRCm39) missense probably damaging 1.00
R8195:Prom1 UTSW 5 44,194,770 (GRCm39) missense possibly damaging 0.69
R8516:Prom1 UTSW 5 44,164,441 (GRCm39) missense probably benign 0.05
R8529:Prom1 UTSW 5 44,170,369 (GRCm39) splice site probably null
R8670:Prom1 UTSW 5 44,159,186 (GRCm39) missense probably benign 0.00
R8835:Prom1 UTSW 5 44,175,722 (GRCm39) missense probably damaging 1.00
R8907:Prom1 UTSW 5 44,159,135 (GRCm39) missense probably damaging 1.00
R9017:Prom1 UTSW 5 44,204,870 (GRCm39) missense probably damaging 1.00
R9104:Prom1 UTSW 5 44,172,161 (GRCm39) missense probably benign 0.02
R9173:Prom1 UTSW 5 44,220,520 (GRCm39) missense possibly damaging 0.94
R9361:Prom1 UTSW 5 44,213,229 (GRCm39) missense probably damaging 0.99
R9519:Prom1 UTSW 5 44,213,403 (GRCm39) missense possibly damaging 0.61
R9574:Prom1 UTSW 5 44,158,179 (GRCm39) missense probably benign 0.01
R9604:Prom1 UTSW 5 44,187,075 (GRCm39) missense probably damaging 0.99
R9615:Prom1 UTSW 5 44,164,399 (GRCm39) missense probably damaging 1.00
R9680:Prom1 UTSW 5 44,190,284 (GRCm39) critical splice donor site probably null
Z1177:Prom1 UTSW 5 44,172,180 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGATCACAAGGGCTTGAAAAGATGAC -3'
(R):5'- TTGCTGCTAACTTGTTGCCCAGA -3'

Sequencing Primer
(F):5'- ggaaaagaagaaggggacacag -3'
(R):5'- CCAGAGTATTTACTCTAACGATGCC -3'
Posted On 2014-04-13