Incidental Mutation 'R2163:Prom1'
ID 235268
Institutional Source Beutler Lab
Gene Symbol Prom1
Ensembl Gene ENSMUSG00000029086
Gene Name prominin 1
Synonyms Prom-1, 4932416E19Rik, Prom, AC133, CD133
MMRRC Submission 040166-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.326) question?
Stock # R2163 (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 44171505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 632 (E632V)
Ref Sequence ENSEMBL: ENSMUSP00000142375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030973] [ENSMUST00000074113] [ENSMUST00000087441] [ENSMUST00000087442] [ENSMUST00000165909] [ENSMUST00000171543] [ENSMUST00000197706] [ENSMUST00000179059] [ENSMUST00000177946] [ENSMUST00000197750]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000030973
AA Change: E607V

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030973
Gene: ENSMUSG00000029086
AA Change: E607V

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: E641V

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000073751
Gene: ENSMUSG00000029086
AA Change: E641V

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: E632V

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000084707
Gene: ENSMUSG00000029086
AA Change: E632V

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000087442
AA Change: E632V

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000084709
Gene: ENSMUSG00000029086
AA Change: E632V

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000165909
AA Change: E632V

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000129909
Gene: ENSMUSG00000029086
AA Change: E632V

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000171543
AA Change: E641V

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000128978
Gene: ENSMUSG00000029086
AA Change: E641V

DomainStartEndE-ValueType
Pfam:Prominin 11 838 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000197706
AA Change: E602V

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142632
Gene: ENSMUSG00000029086
AA Change: E602V

DomainStartEndE-ValueType
Pfam:Prominin 11 321 6.6e-110 PFAM
Pfam:Prominin 317 793 6.8e-188 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000179059
AA Change: E641V

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000137557
Gene: ENSMUSG00000029086
AA Change: E641V

DomainStartEndE-ValueType
Pfam:Prominin 11 838 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000177946
AA Change: E632V

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000136483
Gene: ENSMUSG00000029086
AA Change: E632V

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000197750
AA Change: E632V

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142375
Gene: ENSMUSG00000029086
AA Change: E632V

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196853
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 97% (76/78)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I07Rik C A 14: 67,175,997 (GRCm39) T64K unknown Het
Ablim2 T C 5: 35,959,697 (GRCm39) probably benign Het
Acp4 T C 7: 43,905,400 (GRCm39) D107G probably damaging Het
Adamts2 T A 11: 50,679,632 (GRCm39) C871S probably benign Het
Adamts3 A G 5: 89,856,577 (GRCm39) V332A probably damaging Het
Alkal1 C T 1: 6,459,736 (GRCm39) T104M probably benign Het
Astn1 A G 1: 158,329,720 (GRCm39) S192G probably damaging Het
Axdnd1 A C 1: 156,219,573 (GRCm39) V337G probably damaging Het
Baiap2l2 T C 15: 79,143,395 (GRCm39) D481G possibly damaging Het
Cacna2d1 C T 5: 16,567,317 (GRCm39) T964I probably damaging Het
Carf T C 1: 60,186,645 (GRCm39) probably benign Het
Catsper2 T C 2: 121,230,656 (GRCm39) D295G probably damaging Het
Cdh1 A G 8: 107,375,713 (GRCm39) T84A probably benign Het
Chd8 T A 14: 52,436,275 (GRCm39) H2508L possibly damaging Het
Chl1 A T 6: 103,688,192 (GRCm39) T284S probably damaging Het
Chtop A T 3: 90,409,518 (GRCm39) M125K probably benign Het
Col14a1 T A 15: 55,308,041 (GRCm39) probably benign Het
Cplane1 T A 15: 8,232,735 (GRCm39) probably null Het
Cyp2b10 A T 7: 25,624,810 (GRCm39) probably benign Het
Cyp2c70 G A 19: 40,149,163 (GRCm39) H328Y possibly damaging Het
Dcbld1 A G 10: 52,162,452 (GRCm39) T77A probably damaging Het
Dnah6 A T 6: 73,066,729 (GRCm39) probably null Het
Efhd1 A T 1: 87,217,195 (GRCm39) D104V probably damaging Het
Eif5b A T 1: 38,087,875 (GRCm39) D957V probably benign Het
Eps15 T A 4: 109,227,866 (GRCm39) S549R probably damaging Het
Fbxo3 C A 2: 103,885,330 (GRCm39) H400N probably benign Het
Fcer1a A G 1: 173,050,264 (GRCm39) V86A probably damaging Het
Fh1 A G 1: 175,442,406 (GRCm39) M148T possibly damaging Het
Foxc1 C A 13: 31,992,586 (GRCm39) H466N unknown Het
Gadl1 T A 9: 115,778,626 (GRCm39) I180N possibly damaging Het
Gm10801 G C 2: 98,494,352 (GRCm39) R143T possibly damaging Het
Gm21718 T C 14: 51,555,223 (GRCm39) noncoding transcript Het
Hivep2 T A 10: 14,003,970 (GRCm39) Y189* probably null Het
Hoxd13 T A 2: 74,499,413 (GRCm39) S254T possibly damaging Het
Hspd1 A G 1: 55,117,697 (GRCm39) probably benign Het
Il1r1 A G 1: 40,334,023 (GRCm39) M198V probably benign Het
Katnal1 T A 5: 148,825,746 (GRCm39) I362F probably damaging Het
Muc2 CGTG CGTGTG 7: 141,699,185 (GRCm38) probably null Het
Mybpc1 T C 10: 88,376,804 (GRCm39) probably benign Het
Mycbp2 A G 14: 103,407,291 (GRCm39) probably null Het
Nell2 G T 15: 95,327,859 (GRCm39) N301K probably damaging Het
Nenf T A 1: 191,042,132 (GRCm39) D108V probably damaging Het
Nfkbiz T C 16: 55,638,581 (GRCm39) N293S probably benign Het
Nipbl T C 15: 8,366,403 (GRCm39) K1229E probably damaging Het
Nlrp4a T C 7: 26,152,822 (GRCm39) F631L probably benign Het
Nrp1 T A 8: 129,224,352 (GRCm39) V705E probably damaging Het
Nsf G C 11: 103,754,159 (GRCm39) A459G possibly damaging Het
Or1af1 A G 2: 37,110,089 (GRCm39) E196G probably damaging Het
Or5w10 A G 2: 87,375,238 (GRCm39) S217P probably damaging Het
Pdia4 C T 6: 47,775,341 (GRCm39) D490N possibly damaging Het
Pinlyp T A 7: 24,241,226 (GRCm39) Y192F probably benign Het
Pkd2 T C 5: 104,603,543 (GRCm39) probably benign Het
Ppara A G 15: 85,685,247 (GRCm39) K399E probably benign Het
Ppp4r2 C A 6: 100,842,047 (GRCm39) N169K probably damaging Het
Rpap3 T A 15: 97,578,229 (GRCm39) Y562F possibly damaging Het
Rsph14 T A 10: 74,793,611 (GRCm39) K263N probably damaging Het
Sanbr T C 11: 23,526,826 (GRCm39) probably benign Het
Scn11a T G 9: 119,584,091 (GRCm39) D1508A probably damaging Het
Scn7a T C 2: 66,506,300 (GRCm39) T1530A probably damaging Het
Sec14l1 T A 11: 117,034,108 (GRCm39) probably null Het
Slc4a4 A G 5: 89,362,435 (GRCm39) I840V probably damaging Het
Slco1a8 G A 6: 141,926,664 (GRCm39) T554I possibly damaging Het
Slco1c1 T A 6: 141,505,478 (GRCm39) V419D probably benign Het
Sltm T A 9: 70,498,964 (GRCm39) F1013I probably damaging Het
Spam1 A G 6: 24,796,846 (GRCm39) K266E probably benign Het
Syt15 A G 14: 33,948,073 (GRCm39) E306G probably benign Het
Tap1 A T 17: 34,408,447 (GRCm39) probably null Het
Tbc1d16 G C 11: 119,045,904 (GRCm39) probably benign Het
Tex47 T C 5: 7,355,022 (GRCm39) Y68H probably damaging Het
Ttn T C 2: 76,642,845 (GRCm39) T13264A probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubxn2a A T 12: 4,935,757 (GRCm39) F131Y probably damaging Het
Usp40 T C 1: 87,923,580 (GRCm39) probably benign Het
Vmn1r170 T C 7: 23,306,462 (GRCm39) L288P probably damaging Het
Vmn1r175 A G 7: 23,508,352 (GRCm39) Y92H probably benign Het
Wdpcp G T 11: 21,835,015 (GRCm39) E673* probably null Het
Zfr T A 15: 12,162,309 (GRCm39) L820I 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
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'- CACAGTCAAGCCATGGTGAC -3'
(R):5'- CATAGTTAGTATCTCCAGCCCC -3'

Sequencing Primer
(F):5'- GACAGGTACTTCTTTGTGGCTTTCC -3'
(R):5'- CATAGACATGCAAAGGTTGTTAGCTG -3'
Posted On 2014-10-01