Mutagenetix > Incidental Mutation

Incidental Mutation 'R2020:Prom1'

223808

Institutional Source

Beutler Lab

Gene Symbol

Prom1

Ensembl Gene

ENSMUSG00000029086

Gene Name

prominin 1

Synonyms

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

MMRRC Submission

040029-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.454) question?

Stock #

R2020 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43993620-44102032 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 44011253 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142375 (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

SMART Domains

Protein: ENSMUSP00000030973
Gene: ENSMUSG00000029086

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

SMART Domains

Protein: ENSMUSP00000073751
Gene: ENSMUSG00000029086

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

SMART Domains

Protein: ENSMUSP00000084707
Gene: ENSMUSG00000029086

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

Predicted Effect

probably benign
Transcript: ENSMUST00000087442

SMART Domains

Protein: ENSMUSP00000084709
Gene: ENSMUSG00000029086

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

Predicted Effect

probably benign
Transcript: ENSMUST00000165909

SMART Domains

Protein: ENSMUSP00000129909
Gene: ENSMUSG00000029086

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

Predicted Effect

probably benign
Transcript: ENSMUST00000171543

SMART Domains

Protein: ENSMUSP00000128978
Gene: ENSMUSG00000029086

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

Predicted Effect

probably benign
Transcript: ENSMUST00000177946

SMART Domains

Protein: ENSMUSP00000136483
Gene: ENSMUSG00000029086

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

Predicted Effect

probably benign
Transcript: ENSMUST00000179059

SMART Domains

Protein: ENSMUSP00000137557
Gene: ENSMUSG00000029086

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196853

Predicted Effect

probably benign
Transcript: ENSMUST00000197706

SMART Domains

Protein: ENSMUSP00000142632
Gene: ENSMUSG00000029086

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

SMART Domains

Protein: ENSMUSP00000142375
Gene: ENSMUSG00000029086

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.6%

Validation Efficiency

99% (87/88)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	C	A	1: 158,968,912		noncoding transcript	Het
9530053A07Rik	T	C	7: 28,155,594	S1882P	probably benign	Het
Adam17	G	A	12: 21,349,875	R177C	probably damaging	Het
Ak7	G	A	12: 105,745,332		probably null	Het
Akap9	T	C	5: 3,961,967	V890A	probably damaging	Het
Alg6	A	G	4: 99,738,132	N59S	probably damaging	Het
Alkbh5	G	T	11: 60,538,549	A43S	probably benign	Het
Anxa2	C	A	9: 69,483,817	D162E	probably damaging	Het
Arap1	A	G	7: 101,401,518	H1136R	probably benign	Het
Arhgap18	A	G	10: 26,854,904	R121G	probably benign	Het
Arhgef4	A	T	1: 34,723,810	T716S	unknown	Het
Atg2a	T	C	19: 6,250,269		probably null	Het
Ccdc27	T	C	4: 154,033,313	I480V	probably null	Het
Cdipt	T	C	7: 126,976,933	V20A	possibly damaging	Het
Cgrrf1	C	T	14: 46,830,445		probably benign	Het
Chd7	G	A	4: 8,855,226	V2152I	probably benign	Het
Chd8	T	A	14: 52,215,241	S1274C	probably damaging	Het
Chuk	A	T	19: 44,107,343	M17K	possibly damaging	Het
Col14a1	C	T	15: 55,446,181		probably benign	Het
Col20a1	G	A	2: 181,013,163		probably null	Het
Cped1	A	G	6: 22,143,964	I570V	probably benign	Het
Cul9	C	G	17: 46,522,175	A1326P	probably damaging	Het
Ddx27	A	C	2: 167,033,771	Q674P	probably damaging	Het
Dennd6a	T	A	14: 26,612,003	F131L	probably damaging	Het
Dhx38	G	A	8: 109,556,869		probably benign	Het
Dido1	G	T	2: 180,659,585	N2175K	unknown	Het
Dmxl1	T	A	18: 49,889,558	Y1654*	probably null	Het
Dock7	T	A	4: 98,959,101	H1658L	probably damaging	Het
Dync2h1	T	C	9: 7,162,925	I555V	probably benign	Het
Dync2h1	T	A	9: 7,122,772	E2061D	probably damaging	Het
Eif2ak2	T	C	17: 78,863,963	E337G	possibly damaging	Het
Fabp12	T	A	3: 10,250,149	D46V	probably benign	Het
Fech	C	T	18: 64,478,727	E79K	probably damaging	Het
Flnc	A	T	6: 29,444,363	I693F	probably damaging	Het
Foxp2	G	A	6: 15,324,644	C97Y	possibly damaging	Het
Grin2b	A	G	6: 135,733,896	M884T	probably benign	Het
Gtf2ird1	T	C	5: 134,417,093	D28G	probably damaging	Het
Gtf3c4	C	A	2: 28,833,894	G468W	possibly damaging	Het
Ift172	A	T	5: 31,267,241	L201*	probably null	Het
Il1rl2	C	A	1: 40,365,214	S498R	probably damaging	Het
Ildr1	C	T	16: 36,725,541	R489W	probably damaging	Het
Itga10	G	A	3: 96,652,490	G487D	probably damaging	Het
Klk8	A	G	7: 43,799,216	N128D	probably benign	Het
Lgr6	G	A	1: 135,075,275	T79M	probably damaging	Het
Med6	T	C	12: 81,573,877	T232A	probably benign	Het
Mgat4e	A	G	1: 134,541,322	L328P	probably damaging	Het
Mttp	A	G	3: 138,118,402	Y138H	probably damaging	Het
Ngef	T	C	1: 87,545,968	R31G	probably benign	Het
Nipsnap2	C	A	5: 129,753,223		probably null	Het
Nlgn2	G	T	11: 69,828,441	N194K	probably damaging	Het
Olfr1026	A	G	2: 85,923,743	I158M	probably benign	Het
Olfr1245	A	T	2: 89,574,961	M255K	possibly damaging	Het
Olfr1450	G	A	19: 12,954,332	V248I	possibly damaging	Het
Olfr357	G	A	2: 36,997,652	V281M	possibly damaging	Het
Olfr894	A	G	9: 38,219,432	Y203C	possibly damaging	Het
Pcca	T	A	14: 122,813,222	M101K	possibly damaging	Het
Plekha6	A	G	1: 133,284,970	T671A	possibly damaging	Het
Prex2	G	A	1: 11,162,312	V868M	probably damaging	Het
Prkcq	G	A	2: 11,279,521	V501I	probably benign	Het
Ptprd	A	G	4: 76,133,161	V41A	probably damaging	Het
Rab39	C	T	9: 53,686,398	G189E	possibly damaging	Het
Ret	T	C	6: 118,180,382	K236E	possibly damaging	Het
Rfx6	G	A	10: 51,720,057		probably null	Het
Rnf213	A	G	11: 119,461,918	T3916A	probably damaging	Het
Rpn1	A	G	6: 88,095,683	N336S	probably damaging	Het
Sag	G	A	1: 87,805,315	A2T	probably damaging	Het
Sco2	T	C	15: 89,371,860	Y197C	probably damaging	Het
Sec23b	T	C	2: 144,566,944	I183T	possibly damaging	Het
Sec24b	C	T	3: 129,987,728	V1166M	probably damaging	Het
Slc27a5	A	T	7: 12,993,412	F361Y	probably damaging	Het
Spaca9	A	G	2: 28,696,001	L17P	probably damaging	Het
Sqor	T	C	2: 122,804,107		probably null	Het
Stx18	A	G	5: 38,135,244	H230R	probably damaging	Het
Tas2r130	A	T	6: 131,630,769	I21N	probably damaging	Het
Tcaf3	A	G	6: 42,593,724	S365P	possibly damaging	Het
Tinagl1	G	A	4: 130,166,972	H351Y	probably damaging	Het
Tmc2	T	C	2: 130,232,385	Y333H	probably damaging	Het
Trp53bp2	A	T	1: 182,442,819	T395S	probably damaging	Het
Tsc22d1	T	C	14: 76,418,333	S751P	probably damaging	Het
Ttc30a1	A	G	2: 75,980,935	V268A	probably benign	Het
Ttn	A	G	2: 76,827,024		probably benign	Het
Ugdh	T	C	5: 65,416,925	Y425C	probably damaging	Het
Vmn1r115	G	A	7: 20,844,169	L273F	probably null	Het
Vmn2r109	A	T	17: 20,541,186	C636*	probably null	Het
Vmn2r59	A	C	7: 42,043,779	Y466D	probably damaging	Het
Zic5	C	T	14: 122,464,830	G163D	unknown	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
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
R8516:Prom1	UTSW	5	44007099	missense	probably benign	0.05
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
R9519:Prom1	UTSW	5	44056061	missense	possibly damaging	0.61
R9574:Prom1	UTSW	5	44000837	missense	probably benign	0.01
R9604:Prom1	UTSW	5	44029733	missense	probably damaging	0.99
R9615:Prom1	UTSW	5	44007057	missense	probably damaging	1.00
R9680:Prom1	UTSW	5	44032942	critical splice donor site	probably null
Z1177:Prom1	UTSW	5	44014838	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCTTGTCTCCTACACAGC -3'
(R):5'- AGGAGTTCCTGTATGCTGCATG -3'

Sequencing Primer
(F):5'- CCATGGGGAAGCCAGGTTTG -3'
(R):5'- CTGTATGCTGCATGTGATACAC -3'

Posted On

2014-08-25