Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02724:Prom2'

305128

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prom2

Ensembl Gene

ENSMUSG00000027376

Gene Name

prominin 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02724

Quality Score

Status

Chromosome

Chromosomal Location

127368873-127383337 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 127380577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028855] [ENSMUST00000103214]

AlphaFold

Q3UUY6

Predicted Effect

probably benign
Transcript: ENSMUST00000028855

SMART Domains

Protein: ENSMUSP00000028855
Gene: ENSMUSG00000027376

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Prominin	25	808	3.6e-279	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103214

SMART Domains

Protein: ENSMUSP00000099503
Gene: ENSMUSG00000027376

Domain	Start	End	E-Value	Type
Pfam:Prominin	18	818	3e-288	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155581

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the prominin family of pentaspan membrane glycoproteins. The encoded protein localizes to basal epithelial cells and may be involved in the organization of plasma membrane microdomains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutant mice exhibited signs of anemia, with decreased mean red blood cell count and decreased mean hemoglobin and hematocrit levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	G	2: 93,676,121 (GRCm39)	K85Q	probably damaging	Het
Acmsd	A	T	1: 127,676,822 (GRCm39)	T116S	possibly damaging	Het
Agrn	T	A	4: 156,257,264 (GRCm39)	K1189*	probably null	Het
Alk	T	C	17: 72,292,455 (GRCm39)	R508G	probably benign	Het
Arhgap23	T	A	11: 97,382,005 (GRCm39)	Y1123N	probably damaging	Het
Arl6ip5	G	T	6: 97,209,365 (GRCm39)	M133I	probably benign	Het
Axin2	G	A	11: 108,833,772 (GRCm39)	G573D	possibly damaging	Het
B4galt2	A	G	4: 117,734,075 (GRCm39)		probably null	Het
Baz2b	G	T	2: 59,807,718 (GRCm39)	D180E	possibly damaging	Het
Btnl6	G	T	17: 34,727,149 (GRCm39)	Y460*	probably null	Het
Cct7	A	T	6: 85,436,131 (GRCm39)	D14V	probably damaging	Het
Cd55	T	A	1: 130,377,149 (GRCm39)		probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh2	C	T	18: 16,762,537 (GRCm39)	R526Q	probably benign	Het
Chi3l1	A	C	1: 134,116,981 (GRCm39)	E315A	probably damaging	Het
Cmya5	A	G	13: 93,233,163 (GRCm39)	S642P	probably benign	Het
Cpm	C	A	10: 117,465,756 (GRCm39)	T43K	probably damaging	Het
Cracd	T	C	5: 77,006,306 (GRCm39)	V889A	unknown	Het
Cyp8b1	A	T	9: 121,744,453 (GRCm39)	V293D	probably benign	Het
Dock1	T	G	7: 134,765,082 (GRCm39)	D1691E	probably benign	Het
Fasn	T	C	11: 120,700,659 (GRCm39)	D2120G	probably benign	Het
Gal3st4	T	C	5: 138,263,679 (GRCm39)	K440R	probably benign	Het
Gfpt1	A	T	6: 87,033,164 (GRCm39)	K130*	probably null	Het
Gpr26	T	C	7: 131,576,121 (GRCm39)		probably null	Het
Htr2a	A	T	14: 74,882,502 (GRCm39)	I163F	probably damaging	Het
Ift70a2	T	C	2: 75,806,682 (GRCm39)	E610G	probably benign	Het
Insrr	A	G	3: 87,716,879 (GRCm39)	D673G	probably benign	Het
Ipo8	G	T	6: 148,692,979 (GRCm39)	C636*	probably null	Het
Kirrel1	C	A	3: 86,997,780 (GRCm39)	E248*	probably null	Het
Lrp6	A	G	6: 134,461,228 (GRCm39)	V743A	probably damaging	Het
Lrrc45	C	A	11: 120,609,144 (GRCm39)	S374R	probably benign	Het
Map3k9	G	A	12: 81,771,516 (GRCm39)	P714S	probably benign	Het
Mrgprb8	T	A	7: 48,039,121 (GRCm39)	L264Q	possibly damaging	Het
Mroh4	C	A	15: 74,478,000 (GRCm39)	W902L	probably benign	Het
Nfat5	T	A	8: 108,085,367 (GRCm39)	D535E	probably damaging	Het
Nfatc3	T	C	8: 106,834,817 (GRCm39)	V713A	probably benign	Het
Npc1l1	C	T	11: 6,164,684 (GRCm39)	V1122M	possibly damaging	Het
Nsg2	A	G	11: 32,005,011 (GRCm39)		probably null	Het
Or4c15	C	A	2: 88,759,792 (GRCm39)	R289L	probably damaging	Het
Or8s10	T	A	15: 98,335,660 (GRCm39)	F103L	probably benign	Het
Pax9	A	T	12: 56,756,604 (GRCm39)	H314L	possibly damaging	Het
Phf21a	A	T	2: 92,190,592 (GRCm39)	I584F	probably damaging	Het
Pip5k1c	A	G	10: 81,149,296 (GRCm39)	E536G	probably benign	Het
Plekhm3	A	G	1: 64,834,276 (GRCm39)	S736P	probably damaging	Het
Ppp3cb	T	A	14: 20,573,645 (GRCm39)		probably null	Het
Prdm9	A	T	17: 15,783,522 (GRCm39)	S14R	probably benign	Het
Proc	A	G	18: 32,267,925 (GRCm39)	I71T	probably damaging	Het
Psd	T	C	19: 46,307,984 (GRCm39)	T675A	probably benign	Het
Rnf215	G	T	11: 4,090,305 (GRCm39)	R341L	probably damaging	Het
Ryr3	A	G	2: 112,732,921 (GRCm39)		probably null	Het
Sh2d7	C	A	9: 54,448,105 (GRCm39)	T42N	probably benign	Het
Sh3glb2	C	T	2: 30,236,368 (GRCm39)	G279D	probably benign	Het
Slc25a46	A	G	18: 31,738,868 (GRCm39)		probably benign	Het
Snx17	T	C	5: 31,354,390 (GRCm39)	S167P	probably damaging	Het
Snx19	A	G	9: 30,343,556 (GRCm39)	N572S	possibly damaging	Het
Sptbn4	G	A	7: 27,067,104 (GRCm39)	R1937C	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Srsf11	T	C	3: 157,722,068 (GRCm39)		probably benign	Het
Taar7b	A	T	10: 23,876,581 (GRCm39)	M249L	probably benign	Het
Tle6	G	A	10: 81,435,898 (GRCm39)	Q6*	probably null	Het
Twnk	G	T	19: 44,996,557 (GRCm39)	R330L	probably damaging	Het
Unc13a	C	A	8: 72,108,949 (GRCm39)		probably benign	Het
Vmn2r107	A	G	17: 20,577,006 (GRCm39)	T335A	possibly damaging	Het
Wdtc1	A	T	4: 133,024,789 (GRCm39)	S469R	possibly damaging	Het
Ypel1	A	G	16: 16,921,466 (GRCm39)	Y73H	probably benign	Het
Zfp382	A	T	7: 29,833,162 (GRCm39)	Y271F	probably benign	Het

Other mutations in Prom2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Prom2	APN	2	127,383,059 (GRCm39)	missense	probably benign	0.04
IGL01140:Prom2	APN	2	127,373,125 (GRCm39)	splice site	probably benign
IGL01300:Prom2	APN	2	127,377,009 (GRCm39)	missense	probably benign	0.44
IGL01445:Prom2	APN	2	127,381,433 (GRCm39)	splice site	probably benign
IGL01472:Prom2	APN	2	127,374,802 (GRCm39)	missense	probably benign	0.39
IGL01541:Prom2	APN	2	127,371,050 (GRCm39)	critical splice donor site	probably null
IGL01991:Prom2	APN	2	127,371,142 (GRCm39)	missense	probably damaging	1.00
IGL02421:Prom2	APN	2	127,373,802 (GRCm39)	critical splice acceptor site	probably null
IGL02557:Prom2	APN	2	127,371,391 (GRCm39)	missense	possibly damaging	0.85
IGL02826:Prom2	APN	2	127,373,036 (GRCm39)	missense	probably benign	0.07
IGL02830:Prom2	APN	2	127,376,989 (GRCm39)	missense	possibly damaging	0.88
IGL02990:Prom2	APN	2	127,370,734 (GRCm39)	missense	probably benign	0.10
R0110:Prom2	UTSW	2	127,373,033 (GRCm39)	missense	possibly damaging	0.53
R0133:Prom2	UTSW	2	127,380,258 (GRCm39)	splice site	probably benign
R0165:Prom2	UTSW	2	127,381,434 (GRCm39)	splice site	probably benign
R0220:Prom2	UTSW	2	127,383,027 (GRCm39)	missense	probably benign	0.03
R0466:Prom2	UTSW	2	127,370,709 (GRCm39)	missense	probably damaging	0.99
R0505:Prom2	UTSW	2	127,374,787 (GRCm39)	missense	possibly damaging	0.82
R0605:Prom2	UTSW	2	127,381,915 (GRCm39)	critical splice donor site	probably null
R0633:Prom2	UTSW	2	127,381,445 (GRCm39)	missense	probably benign	0.19
R0947:Prom2	UTSW	2	127,380,183 (GRCm39)	missense	possibly damaging	0.69
R1682:Prom2	UTSW	2	127,382,082 (GRCm39)	missense	possibly damaging	0.90
R1806:Prom2	UTSW	2	127,374,802 (GRCm39)	missense	probably damaging	1.00
R1859:Prom2	UTSW	2	127,383,017 (GRCm39)	missense	probably damaging	0.97
R1864:Prom2	UTSW	2	127,381,707 (GRCm39)	missense	probably benign	0.00
R1866:Prom2	UTSW	2	127,378,514 (GRCm39)	missense	probably damaging	0.99
R3824:Prom2	UTSW	2	127,377,593 (GRCm39)	splice site	probably benign
R4472:Prom2	UTSW	2	127,382,111 (GRCm39)	missense	probably benign	0.06
R5078:Prom2	UTSW	2	127,373,757 (GRCm39)	missense	probably benign	0.00
R5889:Prom2	UTSW	2	127,371,331 (GRCm39)	missense	possibly damaging	0.79
R5930:Prom2	UTSW	2	127,372,053 (GRCm39)	nonsense	probably null
R6214:Prom2	UTSW	2	127,381,695 (GRCm39)	critical splice donor site	probably null
R6215:Prom2	UTSW	2	127,381,695 (GRCm39)	critical splice donor site	probably null
R6914:Prom2	UTSW	2	127,372,295 (GRCm39)	missense	possibly damaging	0.78
R7099:Prom2	UTSW	2	127,381,698 (GRCm39)	missense	probably benign
R7427:Prom2	UTSW	2	127,381,731 (GRCm39)	missense	probably damaging	0.99
R7428:Prom2	UTSW	2	127,381,731 (GRCm39)	missense	probably damaging	0.99
R7525:Prom2	UTSW	2	127,374,701 (GRCm39)	missense	probably benign
R8477:Prom2	UTSW	2	127,381,124 (GRCm39)	missense	probably benign	0.01
R9287:Prom2	UTSW	2	127,380,185 (GRCm39)	missense	probably damaging	0.98
R9337:Prom2	UTSW	2	127,371,094 (GRCm39)	missense	probably damaging	0.99
Z1176:Prom2	UTSW	2	127,374,695 (GRCm39)	missense	probably damaging	1.00
Z1177:Prom2	UTSW	2	127,381,446 (GRCm39)	missense	probably benign	0.19
Z1177:Prom2	UTSW	2	127,380,225 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16