Incidental Mutation 'R9615:Prom1'
ID 724500
Institutional Source Beutler Lab
Gene Symbol Prom1
Ensembl Gene ENSMUSG00000029086
Gene Name prominin 1
Synonyms Prom-1, 4932416E19Rik, Prom, AC133, CD133
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.326) question?
Stock # R9615 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 44150962-44259374 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44164399 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 728 (F728S)
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 damaging
Transcript: ENSMUST00000030973
AA Change: F694S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030973
Gene: ENSMUSG00000029086
AA Change: F694S

DomainStartEndE-ValueType
Pfam:Prominin 11 326 1.5e-113 PFAM
Pfam:Prominin 322 798 4.6e-188 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000074113
AA Change: F728S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000073751
Gene: ENSMUSG00000029086
AA Change: F728S

DomainStartEndE-ValueType
low complexity region 8 13 N/A INTRINSIC
Pfam:Prominin 18 822 2e-294 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000087441
AA Change: F719S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000084707
Gene: ENSMUSG00000029086
AA Change: F719S

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000087442
AA Change: F719S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000084709
Gene: ENSMUSG00000029086
AA Change: F719S

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000165909
AA Change: F719S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129909
Gene: ENSMUSG00000029086
AA Change: F719S

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171543
AA Change: F734S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128978
Gene: ENSMUSG00000029086
AA Change: F734S

DomainStartEndE-ValueType
Pfam:Prominin 11 838 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177946
AA Change: F719S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136483
Gene: ENSMUSG00000029086
AA Change: F719S

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179059
AA Change: F734S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137557
Gene: ENSMUSG00000029086
AA Change: F734S

DomainStartEndE-ValueType
Pfam:Prominin 11 838 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196378
Predicted Effect probably damaging
Transcript: ENSMUST00000197706
AA Change: F689S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142632
Gene: ENSMUSG00000029086
AA Change: F689S

DomainStartEndE-ValueType
Pfam:Prominin 11 321 6.6e-110 PFAM
Pfam:Prominin 317 793 6.8e-188 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000197750
AA Change: F719S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142375
Gene: ENSMUSG00000029086
AA Change: F719S

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,814 (GRCm39) Q124R probably damaging Het
Abca16 T A 7: 120,126,404 (GRCm39) F1188I probably benign Het
Acat3 G A 17: 13,147,502 (GRCm39) Q172* probably null Het
Aicda T A 6: 122,538,113 (GRCm39) C90* probably null Het
Arhgap39 C A 15: 76,621,438 (GRCm39) V388L probably benign Het
B020011L13Rik A T 1: 117,729,462 (GRCm39) H323L probably damaging Het
Bsn C T 9: 107,984,430 (GRCm39) R436Q Het
C3 A T 17: 57,518,669 (GRCm39) L1238Q probably damaging Het
Cert1 C T 13: 96,767,334 (GRCm39) H495Y possibly damaging Het
Ces1g A G 8: 94,061,807 (GRCm39) V33A probably damaging Het
Clstn1 A G 4: 149,722,757 (GRCm39) D475G probably damaging Het
Cmtm2a A G 8: 105,019,286 (GRCm39) V101A probably damaging Het
Cnnm4 A G 1: 36,511,893 (GRCm39) M374V probably damaging Het
Commd9 T C 2: 101,727,436 (GRCm39) S77P possibly damaging Het
Cox7a2l A G 17: 83,821,701 (GRCm39) Y2H possibly damaging Het
Cramp1 C A 17: 25,201,783 (GRCm39) K566N probably damaging Het
Cubn G A 2: 13,325,991 (GRCm39) H2725Y possibly damaging Het
Cyp2c39 T C 19: 39,501,617 (GRCm39) F57L probably benign Het
Dgkh A T 14: 78,813,370 (GRCm39) V1036D possibly damaging Het
Dip2c G A 13: 9,625,191 (GRCm39) V562I probably benign Het
Fat3 T C 9: 16,289,343 (GRCm39) Q60R probably benign Het
Gm1527 A G 3: 28,969,475 (GRCm39) D275G probably damaging Het
Gp5 A C 16: 30,128,393 (GRCm39) F94V probably damaging Het
Grik4 T A 9: 42,502,765 (GRCm39) K453* probably null Het
Hdlbp T C 1: 93,358,014 (GRCm39) T296A probably benign Het
Hrh4 C A 18: 13,154,944 (GRCm39) T161K probably benign Het
Ift74 A T 4: 94,550,822 (GRCm39) probably null Het
Kctd5 A T 17: 24,292,192 (GRCm39) Y71N probably benign Het
Klhl42 T C 6: 147,009,373 (GRCm39) L404P probably damaging Het
Klra5 C A 6: 129,883,686 (GRCm39) W147L possibly damaging Het
Lipe T A 7: 25,097,326 (GRCm39) K206* probably null Het
Lipo3 T C 19: 33,754,047 (GRCm39) I363V probably benign Het
Mrgpra6 T A 7: 46,835,675 (GRCm39) I249F probably benign Het
Myo15a A T 11: 60,374,320 (GRCm39) N125I Het
Nbr1 T A 11: 101,465,978 (GRCm39) I753N probably benign Het
Ndor1 T C 2: 25,138,434 (GRCm39) D451G probably benign Het
Nlrp5 C T 7: 23,107,561 (GRCm39) T78I probably benign Het
Or10j3b A T 1: 173,044,034 (GRCm39) E272V possibly damaging Het
Or51ag1 C T 7: 103,155,727 (GRCm39) R142H probably benign Het
Ptgs2 T A 1: 149,980,802 (GRCm39) F456Y probably damaging Het
Rtl1 G A 12: 109,556,835 (GRCm39) A1668V possibly damaging Het
Runx2 A T 17: 44,969,560 (GRCm39) D310E probably benign Het
Samd4b A T 7: 28,106,714 (GRCm39) I349K probably damaging Het
Scn10a A G 9: 119,487,504 (GRCm39) M610T possibly damaging Het
Sec61b A G 4: 47,483,056 (GRCm39) I105V probably benign Het
Semp2l2b T C 10: 21,943,611 (GRCm39) E123G probably benign Het
Slc35f4 A G 14: 49,556,306 (GRCm39) V149A probably benign Het
Smndc1 T A 19: 53,368,951 (GRCm39) M221L probably damaging Het
Ssh2 A G 11: 77,316,203 (GRCm39) N275D possibly damaging Het
Tas2r124 C T 6: 132,732,492 (GRCm39) T267I probably benign Het
Thra G A 11: 98,651,715 (GRCm39) R79H probably damaging Het
Tie1 T C 4: 118,347,032 (GRCm39) probably benign Het
Umodl1 A C 17: 31,217,152 (GRCm39) Q1128P possibly damaging Het
Vps35 G A 8: 86,010,633 (GRCm39) R237C probably benign Het
Zfp78 T A 7: 6,382,074 (GRCm39) C343S probably damaging Het
Zfp85 A G 13: 67,897,326 (GRCm39) Y249H probably 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
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
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'- CCTAGAAAGAAATCAAAGATTAGGACT -3'
(R):5'- TTCAGGGTCTTCAGATTTTGATCAA -3'

Sequencing Primer
(F):5'- AGTCCTTGGAGGCCAATGAACTC -3'
(R):5'- CTTCAGATTTTGATCAAGAGGTGAG -3'
Posted On 2022-09-12