Incidental Mutation 'R9519:Prom1'
ID 718749
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 # R9519 (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 44213403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 110 (V110A)
Ref Sequence ENSEMBL: ENSMUSP00000073751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030973] [ENSMUST00000074113] [ENSMUST00000087441] [ENSMUST00000087442] [ENSMUST00000165909] [ENSMUST00000171543] [ENSMUST00000177946] [ENSMUST00000179059] [ENSMUST00000196178] [ENSMUST00000197706] [ENSMUST00000197750]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000030973
AA Change: V101A

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000030973
Gene: ENSMUSG00000029086
AA Change: V101A

DomainStartEndE-ValueType
Pfam:Prominin 11 326 1.5e-113 PFAM
Pfam:Prominin 322 798 4.6e-188 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000074113
AA Change: V110A

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000073751
Gene: ENSMUSG00000029086
AA Change: V110A

DomainStartEndE-ValueType
low complexity region 8 13 N/A INTRINSIC
Pfam:Prominin 18 822 2e-294 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000087441
AA Change: V101A

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000084707
Gene: ENSMUSG00000029086
AA Change: V101A

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000087442
AA Change: V101A

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000084709
Gene: ENSMUSG00000029086
AA Change: V101A

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000165909
AA Change: V101A

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000129909
Gene: ENSMUSG00000029086
AA Change: V101A

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000171543
AA Change: V110A

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000128978
Gene: ENSMUSG00000029086
AA Change: V110A

DomainStartEndE-ValueType
Pfam:Prominin 11 838 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000177946
AA Change: V101A

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000136483
Gene: ENSMUSG00000029086
AA Change: V101A

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000179059
AA Change: V110A

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000137557
Gene: ENSMUSG00000029086
AA Change: V110A

DomainStartEndE-ValueType
Pfam:Prominin 11 838 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196178
SMART Domains Protein: ENSMUSP00000143403
Gene: ENSMUSG00000029086

DomainStartEndE-ValueType
Pfam:Prominin 11 98 4.3e-19 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000142632
Gene: ENSMUSG00000029086
AA Change: V96A

DomainStartEndE-ValueType
Pfam:Prominin 11 321 6.6e-110 PFAM
Pfam:Prominin 317 793 6.8e-188 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000197750
AA Change: V101A

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142375
Gene: ENSMUSG00000029086
AA Change: V101A

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T C 5: 77,030,572 (GRCm39) E676G probably benign Het
Aatk G A 11: 119,912,309 (GRCm39) probably benign Het
Abcc1 T C 16: 14,207,681 (GRCm39) V20A probably benign Het
Abcc3 A G 11: 94,264,805 (GRCm39) V181A possibly damaging Het
Alkbh2 T C 5: 114,265,794 (GRCm39) K3E probably benign Het
Aox1 A C 1: 58,373,926 (GRCm39) K862N probably damaging Het
Arap1 G A 7: 101,043,946 (GRCm39) probably benign Het
Arid2 A G 15: 96,186,948 (GRCm39) N67D possibly damaging Het
Atxn1l C T 8: 110,458,688 (GRCm39) V525M probably damaging Het
Bcan C G 3: 87,902,964 (GRCm39) E271D probably damaging Het
Bcan T C 3: 87,902,968 (GRCm39) E270G probably benign Het
Bcan C A 3: 87,902,967 (GRCm39) E270D probably damaging Het
Cadps T C 14: 12,546,290 (GRCm38) H522R possibly damaging Het
Dll3 A G 7: 27,995,764 (GRCm39) S346P probably damaging Het
Epha3 T A 16: 63,472,668 (GRCm39) T406S possibly damaging Het
Far1 A G 7: 113,150,559 (GRCm39) R296G probably benign Het
Flot1 T G 17: 36,136,363 (GRCm39) V172G possibly damaging Het
Gm973 A G 1: 59,580,611 (GRCm39) M165V probably benign Het
Golm1 T C 13: 59,792,914 (GRCm39) H197R probably benign Het
Gpr85 T C 6: 13,836,998 (GRCm39) probably benign Het
Herc1 A G 9: 66,307,356 (GRCm39) K1017E probably damaging Het
Inpp5f A C 7: 128,278,515 (GRCm39) D435A possibly damaging Het
Jmjd1c A G 10: 66,993,798 (GRCm39) D93G possibly damaging Het
Kcnn4 T A 7: 24,081,941 (GRCm39) V363E probably damaging Het
Kif9 A G 9: 110,350,344 (GRCm39) D745G probably damaging Het
Lipm T C 19: 34,090,392 (GRCm39) M191T probably benign Het
Ltbp1 C T 17: 75,692,190 (GRCm39) R1603C probably damaging Het
Ms4a13 C G 19: 11,147,332 (GRCm39) S194T unknown Het
Muc16 A T 9: 18,498,216 (GRCm39) I6577N probably benign Het
Nfatc2 T C 2: 168,412,678 (GRCm39) T336A probably benign Het
Nlrp9c T A 7: 26,085,302 (GRCm39) K92N possibly damaging Het
Or1p1b A T 11: 74,130,827 (GRCm39) T146S probably benign Het
Or51a10 C A 7: 103,698,636 (GRCm39) M308I probably benign Het
Parp16 T A 9: 65,137,222 (GRCm39) Y149* probably null Het
Pdgfra A T 5: 75,337,350 (GRCm39) T463S probably benign Het
Peg3 T C 7: 6,714,394 (GRCm39) E276G probably benign Het
Ptprq T C 10: 107,520,961 (GRCm39) Y737C probably damaging Het
Rsf1 G GACGGCGGCC 7: 97,229,116 (GRCm39) probably benign Het
Sds T A 5: 120,619,610 (GRCm39) L173Q probably damaging Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Slc8a3 A T 12: 81,362,326 (GRCm39) D164E probably benign Het
Slc9c1 A T 16: 45,395,770 (GRCm39) N607I probably damaging Het
Smarce1 A T 11: 99,104,933 (GRCm39) I248K probably benign Het
Smg7 G T 1: 152,735,196 (GRCm39) T213K probably damaging Het
Snrnp70 C T 7: 45,036,875 (GRCm39) D90N probably benign Het
Snx20 A G 8: 89,354,400 (GRCm39) V110A possibly damaging Het
Snx25 A G 8: 46,486,783 (GRCm39) V986A probably damaging Het
Soat1 T C 1: 156,259,779 (GRCm39) K521E probably benign Het
Speg C T 1: 75,392,380 (GRCm39) T1679M probably damaging Het
Stoml3 T A 3: 53,405,402 (GRCm39) F28I probably benign Het
Sult1d1 A T 5: 87,704,721 (GRCm39) M256K probably damaging Het
Tiam1 T C 16: 89,608,822 (GRCm39) E1064G probably benign Het
Vwa1 G A 4: 155,857,336 (GRCm39) P154L probably damaging Het
Zfp790 C A 7: 29,522,567 (GRCm39) H3N unknown 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
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'- TTGGAGACTTGACTTGCCTC -3'
(R):5'- AAACTCTTGGCCAGCATTCTG -3'

Sequencing Primer
(F):5'- AGACTTGACTTGCCTCATGAGCAG -3'
(R):5'- CAGCATTCTGGTAATTCAGGACTC -3'
Posted On 2022-07-18