Incidental Mutation 'R8516:Prom1'
ID 656139
Institutional Source Beutler Lab
Gene Symbol Prom1
Ensembl Gene ENSMUSG00000029086
Gene Name prominin 1
Synonyms Prom-1, 4932416E19Rik, Prom, AC133, CD133
MMRRC Submission 067848-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.326) question?
Stock # R8516 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 44150962-44259374 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44164441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 714 (K714R)
Ref Sequence ENSEMBL: ENSMUSP00000073751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030973] [ENSMUST00000074113] [ENSMUST00000087441] [ENSMUST00000087442] [ENSMUST00000165909] [ENSMUST00000171543] [ENSMUST00000177946] [ENSMUST00000179059] [ENSMUST00000197706] [ENSMUST00000197750]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000030973
AA Change: K680R

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000030973
Gene: ENSMUSG00000029086
AA Change: K680R

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: K714R

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000073751
Gene: ENSMUSG00000029086
AA Change: K714R

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: K705R

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000084707
Gene: ENSMUSG00000029086
AA Change: K705R

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000087442
AA Change: K705R

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000084709
Gene: ENSMUSG00000029086
AA Change: K705R

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165909
AA Change: K705R

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000129909
Gene: ENSMUSG00000029086
AA Change: K705R

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171543
AA Change: K720R

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000128978
Gene: ENSMUSG00000029086
AA Change: K720R

DomainStartEndE-ValueType
Pfam:Prominin 11 838 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177946
AA Change: K705R

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000136483
Gene: ENSMUSG00000029086
AA Change: K705R

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179059
AA Change: K720R

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000137557
Gene: ENSMUSG00000029086
AA Change: K720R

DomainStartEndE-ValueType
Pfam:Prominin 11 838 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196378
Predicted Effect probably benign
Transcript: ENSMUST00000197706
AA Change: K675R

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000142632
Gene: ENSMUSG00000029086
AA Change: K675R

DomainStartEndE-ValueType
Pfam:Prominin 11 321 6.6e-110 PFAM
Pfam:Prominin 317 793 6.8e-188 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197750
AA Change: K705R

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000142375
Gene: ENSMUSG00000029086
AA Change: K705R

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt A T 9: 4,309,373 (GRCm39) S22T probably benign Het
Acte1 T A 7: 143,451,011 (GRCm39) I342N probably damaging Het
Actr8 G T 14: 29,712,856 (GRCm39) A500S probably benign Het
Adamtsl1 A G 4: 86,260,780 (GRCm39) Y1005C probably damaging Het
Ank3 T A 10: 69,763,559 (GRCm39) Y884* probably null Het
Arhgap28 T C 17: 68,180,068 (GRCm39) R306G probably benign Het
Atp8a2 A C 14: 59,928,921 (GRCm39) I1044M probably benign Het
Bahd1 A G 2: 118,747,452 (GRCm39) Y357C probably benign Het
Btd A T 14: 31,388,824 (GRCm39) T182S probably damaging Het
Casc3 C T 11: 98,713,607 (GRCm39) R280C probably damaging Het
Cisd2 T C 3: 135,116,774 (GRCm39) T106A probably damaging Het
Cldn15 G T 5: 137,003,550 (GRCm39) C184F probably damaging Het
Clk4 G A 11: 51,166,088 (GRCm39) R198Q probably damaging Het
Coprs G T 8: 13,935,065 (GRCm39) F163L probably damaging Het
Csmd3 G A 15: 47,492,761 (GRCm39) R2216* probably null Het
Defb7 A T 8: 19,547,623 (GRCm39) I43F possibly damaging Het
Dpp8 C A 9: 64,985,291 (GRCm39) T783K probably damaging Het
Eif2s1 G A 12: 78,927,936 (GRCm39) G204D probably damaging Het
Elavl4 T C 4: 110,108,576 (GRCm39) N56S probably damaging Het
Emilin1 G A 5: 31,074,515 (GRCm39) R252H probably damaging Het
Exd1 A T 2: 119,350,554 (GRCm39) L569Q probably damaging Het
Gpn2 C T 4: 133,312,142 (GRCm39) R125C probably damaging Het
Gria2 T C 3: 80,614,294 (GRCm39) E582G probably benign Het
Hadha A T 5: 30,331,582 (GRCm39) V458E probably damaging Het
Hap1 T C 11: 100,246,893 (GRCm39) K4R possibly damaging Het
Hectd4 A T 5: 121,487,073 (GRCm39) H3356L possibly damaging Het
Herc2 G A 7: 55,856,318 (GRCm39) V3919I probably benign Het
Lgr6 G T 1: 135,003,021 (GRCm39) N76K probably damaging Het
Or52w1 A G 7: 105,017,976 (GRCm39) I148V probably benign Het
P4ha3 A G 7: 99,963,869 (GRCm39) M462V probably damaging Het
Pde3b A T 7: 114,126,084 (GRCm39) M773L probably benign Het
Peak1 T C 9: 56,167,284 (GRCm39) S215G probably damaging Het
Pgm5 T A 19: 24,793,074 (GRCm39) M331L probably benign Het
Piwil2 A G 14: 70,658,188 (GRCm39) V213A probably benign Het
Plch2 T C 4: 155,070,764 (GRCm39) H1205R probably benign Het
Pop4 A T 7: 37,966,826 (GRCm39) M85K probably benign Het
Ppp3ca T A 3: 136,583,529 (GRCm39) I212N probably damaging Het
Psip1 C T 4: 83,384,952 (GRCm39) G207S probably benign Het
Rgs22 A G 15: 36,010,481 (GRCm39) *1259Q probably null Het
Scn1a C T 2: 66,156,478 (GRCm39) G477D possibly damaging Het
Sf3b1 T C 1: 55,051,262 (GRCm39) E222G probably null Het
Snrpa1 G A 7: 65,720,381 (GRCm39) G195R probably benign Het
Spem2 T C 11: 69,707,721 (GRCm39) R415G possibly damaging Het
Tmem167 T A 13: 90,246,515 (GRCm39) V13E probably damaging Het
Trim2 C T 3: 84,115,627 (GRCm39) A102T probably damaging Het
Trim30b A G 7: 104,006,611 (GRCm39) S82P probably benign Het
Uba6 A C 5: 86,275,607 (GRCm39) S760R possibly damaging Het
Upf2 T C 2: 6,023,782 (GRCm39) F711L unknown Het
Utrn T A 10: 12,362,254 (GRCm39) D2693V probably damaging Het
Vmn1r30 T G 6: 58,412,109 (GRCm39) Y241S probably damaging Het
Vmn2r110 A G 17: 20,794,875 (GRCm39) L598P probably damaging Het
Wfdc18 T A 11: 83,599,984 (GRCm39) F14Y probably benign Het
Wnt10b A T 15: 98,670,761 (GRCm39) C256S probably damaging Het
Xrn1 T A 9: 95,930,444 (GRCm39) Y1554* probably null Het
Zc3h12a T A 4: 125,013,632 (GRCm39) S411C probably damaging Het
Zfp112 G A 7: 23,823,389 (GRCm39) G63E probably benign Het
Zfp786 A T 6: 47,797,477 (GRCm39) L487Q probably damaging Het
Zfp953 T A 13: 67,493,419 (GRCm39) Y75F possibly damaging 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
R1536:Prom1 UTSW 5 44,175,695 (GRCm39) missense probably benign 0.39
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
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'- ACGAGAGCATACTTCATGGGC -3'
(R):5'- ATCCCAGTATCTCAGCTACTAATGGAG -3'

Sequencing Primer
(F):5'- AGCATACTTCATGGGCATAGC -3'
(R):5'- TCTCAGCTACTAATGGAGCAGGTAC -3'
Posted On 2020-10-20