Mutagenetix > Incidental Mutations

Incidental Mutation 'R8516:Prom1'

656139

Institutional Source

Beutler Lab

Gene Symbol

Prom1

Ensembl Gene

ENSMUSG00000029086

Gene Name

prominin 1

Synonyms

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.381) question?

Stock #

R8516 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43993620-44102032 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44007099 bp (GRCm38)

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

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 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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

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 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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	T	9: 4,309,373	S22T	probably benign	Het
Actr8	G	T	14: 29,990,899	A500S	probably benign	Het
Adamtsl1	A	G	4: 86,342,543	Y1005C	probably damaging	Het
Ank3	T	A	10: 69,927,729	Y884*	probably null	Het
Arhgap28	T	C	17: 67,873,073	R306G	probably benign	Het
Atp8a2	A	C	14: 59,691,472	I1044M	probably benign	Het
Bahd1	A	G	2: 118,916,971	Y357C	probably benign	Het
Btd	A	T	14: 31,666,867	T182S	probably damaging	Het
Casc3	C	T	11: 98,822,781	R280C	probably damaging	Het
Cisd2	T	C	3: 135,411,013	T106A	probably damaging	Het
Cldn15	G	T	5: 136,974,696	C184F	probably damaging	Het
Clk4	G	A	11: 51,275,261	R198Q	probably damaging	Het
Coprs	G	T	8: 13,885,065	F163L	probably damaging	Het
Csmd3	G	A	15: 47,629,365	R2216*	probably null	Het
Defb7	A	T	8: 19,497,607	I43F	possibly damaging	Het
Dpp8	C	A	9: 65,078,009	T783K	probably damaging	Het
Eif2s1	G	A	12: 78,881,162	G204D	probably damaging	Het
Elavl4	T	C	4: 110,251,379	N56S	probably damaging	Het
Emilin1	G	A	5: 30,917,171	R252H	probably damaging	Het
Exd1	A	T	2: 119,520,073	L569Q	probably damaging	Het
Gm498	T	A	7: 143,897,274	I342N	probably damaging	Het
Gpn2	C	T	4: 133,584,831	R125C	probably damaging	Het
Gria2	T	C	3: 80,706,987	E582G	probably benign	Het
Hadha	A	T	5: 30,126,584	V458E	probably damaging	Het
Hap1	T	C	11: 100,356,067	K4R	possibly damaging	Het
Hectd4	A	T	5: 121,349,010	H3356L	possibly damaging	Het
Herc2	G	A	7: 56,206,570	V3919I	probably benign	Het
Lgr6	G	T	1: 135,075,283	N76K	probably damaging	Het
Olfr692	A	G	7: 105,368,769	I148V	probably benign	Het
P4ha3	A	G	7: 100,314,662	M462V	probably damaging	Het
Pde3b	A	T	7: 114,526,849	M773L	probably benign	Het
Peak1	T	C	9: 56,260,000	S215G	probably damaging	Het
Pgm5	T	A	19: 24,815,710	M331L	probably benign	Het
Piwil2	A	G	14: 70,420,739	V213A	probably benign	Het
Plch2	T	C	4: 154,986,307	H1205R	probably benign	Het
Pop4	A	T	7: 38,267,402	M85K	probably benign	Het
Ppp3ca	T	A	3: 136,877,768	I212N	probably damaging	Het
Psip1	C	T	4: 83,466,715	G207S	probably benign	Het
Rgs22	A	G	15: 36,010,335	*1259Q	probably null	Het
Scn1a	C	T	2: 66,326,134	G477D	possibly damaging	Het
Sf3b1	T	C	1: 55,012,103	E222G	probably null	Het
Snrpa1	G	A	7: 66,070,633	G195R	probably benign	Het
Spem2	T	C	11: 69,816,895	R415G	possibly damaging	Het
Tmem167	T	A	13: 90,098,396	V13E	probably damaging	Het
Trim2	C	T	3: 84,208,320	A102T	probably damaging	Het
Trim30b	A	G	7: 104,357,404	S82P	probably benign	Het
Uba6	A	C	5: 86,127,748	S760R	possibly damaging	Het
Upf2	T	C	2: 6,018,971	F711L	unknown	Het
Utrn	T	A	10: 12,486,510	D2693V	probably damaging	Het
Vmn1r30	T	G	6: 58,435,124	Y241S	probably damaging	Het
Vmn2r110	A	G	17: 20,574,613	L598P	probably damaging	Het
Wfdc18	T	A	11: 83,709,158	F14Y	probably benign	Het
Wnt10b	A	T	15: 98,772,880	C256S	probably damaging	Het
Xrn1	T	A	9: 96,048,391	Y1554*	probably null	Het
Zc3h12a	T	A	4: 125,119,839	S411C	probably damaging	Het
Zfp112	G	A	7: 24,123,964	G63E	probably benign	Het
Zfp786	A	T	6: 47,820,543	L487Q	probably damaging	Het
Zfp953	T	A	13: 67,345,355	Y75F	possibly damaging	Het

Other mutations in Prom1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Prom1	APN	5	44055937	missense	probably damaging	1.00
IGL00392:Prom1	APN	5	44007021	critical splice donor site	probably null
IGL00771:Prom1	APN	5	44029776	splice site	probably benign
IGL00841:Prom1	APN	5	44063116	splice site	probably benign
IGL01780:Prom1	APN	5	44029604	splice site	probably benign
IGL01991:Prom1	APN	5	44047506	missense	probably benign	0.13
IGL02220:Prom1	APN	5	44014789	missense	probably damaging	1.00
IGL02350:Prom1	APN	5	44029604	splice site	probably benign
IGL02357:Prom1	APN	5	44029604	splice site	probably benign
IGL02420:Prom1	APN	5	44063154	missense	probably benign	0.15
IGL02468:Prom1	APN	5	44029698	missense	probably benign	0.01
IGL02633:Prom1	APN	5	44014775	missense	probably benign	0.20
IGL02871:Prom1	APN	5	44029676	missense	probably damaging	1.00
IGL02967:Prom1	APN	5	44044398	missense	probably damaging	1.00
IGL03033:Prom1	APN	5	44006160	splice site	probably null
IGL03072:Prom1	APN	5	44058662	intron	probably benign
IGL03149:Prom1	APN	5	44029734	missense	probably damaging	0.99
IGL03277:Prom1	APN	5	44032971	nonsense	probably null
BB001:Prom1	UTSW	5	44029769	missense	probably benign	0.03
BB011:Prom1	UTSW	5	44029769	missense	probably benign	0.03
R1018:Prom1	UTSW	5	44029714	missense	probably benign	0.02
R1456:Prom1	UTSW	5	44037623	missense	probably damaging	0.96
R1458:Prom1	UTSW	5	44032932	splice site	probably benign
R1536:Prom1	UTSW	5	44018353	missense	probably benign	0.39
R1747:Prom1	UTSW	5	44007031	missense	probably benign	0.03
R1772:Prom1	UTSW	5	44011224	missense	probably benign	0.00
R2020:Prom1	UTSW	5	44011253	splice site	probably benign
R2022:Prom1	UTSW	5	44029726	missense	probably benign	0.18
R2091:Prom1	UTSW	5	44014086	splice site	probably benign
R2163:Prom1	UTSW	5	44014163	missense	possibly damaging	0.72
R2177:Prom1	UTSW	5	44026739	missense	possibly damaging	0.67
R3015:Prom1	UTSW	5	44034391	missense	probably damaging	1.00
R3022:Prom1	UTSW	5	44047574	missense	probably damaging	1.00
R4824:Prom1	UTSW	5	44034390	missense	probably damaging	0.98
R4909:Prom1	UTSW	5	44045552	missense	probably benign	0.00
R4999:Prom1	UTSW	5	44037534	missense	probably benign	0.00
R5082:Prom1	UTSW	5	44000832	splice site	probably null
R5351:Prom1	UTSW	5	44044355	missense	probably damaging	1.00
R5401:Prom1	UTSW	5	44000805	missense	probably damaging	0.99
R5440:Prom1	UTSW	5	44058646	missense	probably benign
R5529:Prom1	UTSW	5	44026768	missense	probably damaging	1.00
R5537:Prom1	UTSW	5	44000776	critical splice donor site	probably null
R5669:Prom1	UTSW	5	44012943	missense	possibly damaging	0.64
R5723:Prom1	UTSW	5	44014894	missense	probably benign	0.30
R5778:Prom1	UTSW	5	44007047	missense	probably benign	0.13
R5924:Prom1	UTSW	5	44004963	missense	probably benign	0.02
R6034:Prom1	UTSW	5	44044408	critical splice acceptor site	probably null
R6034:Prom1	UTSW	5	44044408	critical splice acceptor site	probably null
R6038:Prom1	UTSW	5	44001793	missense	probably damaging	1.00
R6038:Prom1	UTSW	5	44001793	missense	probably damaging	1.00
R6145:Prom1	UTSW	5	44029649	missense	probably benign	0.05
R6374:Prom1	UTSW	5	44055983	missense	probably damaging	1.00
R6542:Prom1	UTSW	5	44037509	missense	possibly damaging	0.84
R6645:Prom1	UTSW	5	44047514	missense	probably damaging	0.98
R7158:Prom1	UTSW	5	44012913	missense	probably damaging	1.00
R7233:Prom1	UTSW	5	44037474	missense	possibly damaging	0.90
R7244:Prom1	UTSW	5	44020900	missense	probably benign	0.03
R7339:Prom1	UTSW	5	44101653	unclassified	probably benign
R7365:Prom1	UTSW	5	44020831	missense	probably damaging	1.00
R7573:Prom1	UTSW	5	44055930	missense	probably damaging	0.99
R7592:Prom1	UTSW	5	44063127	missense	probably damaging	0.96
R7809:Prom1	UTSW	5	44020867	missense	probably benign	0.10
R7915:Prom1	UTSW	5	44004935	missense	possibly damaging	0.88
R7924:Prom1	UTSW	5	44029769	missense	probably benign	0.03
R8122:Prom1	UTSW	5	44012953	missense	probably benign	0.12
R8187:Prom1	UTSW	5	44034366	missense	probably damaging	1.00
R8195:Prom1	UTSW	5	44037428	missense	possibly damaging	0.69
R8529:Prom1	UTSW	5	44013027	splice site	probably null
R8670:Prom1	UTSW	5	44001844	missense	probably benign	0.00
R8835:Prom1	UTSW	5	44018380	missense	probably damaging	1.00
R8907:Prom1	UTSW	5	44001793	missense	probably damaging	1.00
R9017:Prom1	UTSW	5	44047528	missense	probably damaging	1.00
R9104:Prom1	UTSW	5	44014819	missense	probably benign	0.02
R9173:Prom1	UTSW	5	44063178	missense	possibly damaging	0.94
R9361:Prom1	UTSW	5	44055887	missense	probably damaging	0.99
Z1177:Prom1	UTSW	5	44014838	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