Mutagenetix > Incidental Mutation

Incidental Mutation 'R3022:Prom1'

265731

Institutional Source

Beutler Lab

Gene Symbol

Prom1

Ensembl Gene

ENSMUSG00000029086

Gene Name

prominin 1

Synonyms

Prom-1, 4932416E19Rik, Prom, AC133, CD133

MMRRC Submission

040538-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.326) question?

Stock #

R3022 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44150962-44259374 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44204916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 177 (T177I)

Ref Sequence

ENSEMBL: ENSMUSP00000030973 (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: T177I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030973
Gene: ENSMUSG00000029086
AA Change: T177I

Domain	Start	End	E-Value	Type
Pfam:Prominin	11	326	1.5e-113	PFAM
Pfam:Prominin	322	798	4.6e-188	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000074113
AA Change: T186I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000073751
Gene: ENSMUSG00000029086
AA Change: T186I

Domain	Start	End	E-Value	Type
low complexity region	8	13	N/A	INTRINSIC
Pfam:Prominin	18	822	2e-294	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000087441
AA Change: T177I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000084707
Gene: ENSMUSG00000029086
AA Change: T177I

Domain	Start	End	E-Value	Type
Pfam:Prominin	11	823	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000087442
AA Change: T177I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000084709
Gene: ENSMUSG00000029086
AA Change: T177I

Domain	Start	End	E-Value	Type
Pfam:Prominin	11	823	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000165909
AA Change: T177I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129909
Gene: ENSMUSG00000029086
AA Change: T177I

Domain	Start	End	E-Value	Type
Pfam:Prominin	11	823	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000171543
AA Change: T186I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128978
Gene: ENSMUSG00000029086
AA Change: T186I

Domain	Start	End	E-Value	Type
Pfam:Prominin	11	838	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000177946
AA Change: T177I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136483
Gene: ENSMUSG00000029086
AA Change: T177I

Domain	Start	End	E-Value	Type
Pfam:Prominin	11	823	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196852

Predicted Effect

probably damaging
Transcript: ENSMUST00000179059
AA Change: T186I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000137557
Gene: ENSMUSG00000029086
AA Change: T186I

Domain	Start	End	E-Value	Type
Pfam:Prominin	11	838	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000197706
AA Change: T172I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142632
Gene: ENSMUSG00000029086
AA Change: T172I

Domain	Start	End	E-Value	Type
Pfam:Prominin	11	321	6.6e-110	PFAM
Pfam:Prominin	317	793	6.8e-188	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000197750
AA Change: T177I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142375
Gene: ENSMUSG00000029086
AA Change: T177I

Domain	Start	End	E-Value	Type
Pfam:Prominin	11	823	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195942

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197749

Predicted Effect

probably benign
Transcript: ENSMUST00000198347

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bptf	T	A	11: 107,002,463 (GRCm39)		probably null	Het
Dnah3	T	A	7: 119,677,704 (GRCm39)	I406F	possibly damaging	Het
Dnah7b	G	A	1: 46,221,583 (GRCm39)	C1229Y	probably damaging	Het
Flywch1	T	C	17: 23,982,082 (GRCm39)	R41G	probably benign	Het
Itpkb	A	T	1: 180,245,888 (GRCm39)	T802S	probably damaging	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Or10aa1	A	G	1: 173,869,650 (GRCm39)	I45V	probably benign	Het
Padi2	T	A	4: 140,665,299 (GRCm39)	V468E	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Stx5a	T	C	19: 8,732,518 (GRCm39)		probably benign	Het
Vmn1r237	T	A	17: 21,534,709 (GRCm39)	I144K	probably damaging	Het

Other mutations in Prom1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- AATGGCTTTCCACGTGGGTTC -3'
(R):5'- GTCTTCAGAGCCTTAGTCCTG -3'

Sequencing Primer
(F):5'- CACTGACTTGTTAAAAGGCTTGGC -3'
(R):5'- TCAGAGCCTTAGTCCTGTTTTG -3'

Posted On

2015-02-05