Mutagenetix > Incidental Mutation

Incidental Mutation 'R0633:Prom2'

58047

Institutional Source

Beutler Lab

Gene Symbol

Prom2

Ensembl Gene

ENSMUSG00000027376

Gene Name

prominin 2

Synonyms

MMRRC Submission

038822-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0633 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127526473-127541467 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127539525 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 227 (D227G)

Ref Sequence

ENSEMBL: ENSMUSP00000099503 (fasta)

Gene Model

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

AlphaFold

Q3UUY6

Predicted Effect

probably benign
Transcript: ENSMUST00000028855
AA Change: D227G

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000028855
Gene: ENSMUSG00000027376
AA Change: D227G

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
AA Change: D227G

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099503
Gene: ENSMUSG00000027376
AA Change: D227G

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

1x: 99.3%
3x: 98.8%
10x: 97.4%
20x: 94.7%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	A	T	6: 149,325,701	I82L	probably benign	Het
4921530L21Rik	T	G	14: 95,881,943	N45K	probably damaging	Het
4933408B17Rik	A	G	18: 34,586,266	V167A	possibly damaging	Het
Adamts8	A	T	9: 30,943,511	R18S	probably damaging	Het
Adgb	G	A	10: 10,391,729	A923V	probably benign	Het
Aldh1a3	A	G	7: 66,400,222	V416A	probably damaging	Het
Alox5	C	T	6: 116,420,384	G280R	probably damaging	Het
Anapc5	A	T	5: 122,800,632	Y360N	probably damaging	Het
Apbb1	C	T	7: 105,558,963	V685I	probably damaging	Het
Apc2	C	A	10: 80,307,455	A463E	probably damaging	Het
Arhgap21	C	T	2: 20,855,387	W1170*	probably null	Het
Atat1	G	A	17: 35,901,423	R305C	probably damaging	Het
Cars2	T	C	8: 11,550,511	D56G	probably benign	Het
Cdc42bpb	T	C	12: 111,345,555	I108V	probably damaging	Het
Cftr	T	A	6: 18,305,980	I1255K	probably damaging	Het
Ckap5	T	C	2: 91,550,743	L148P	probably damaging	Het
Cntn4	A	G	6: 106,679,248		probably null	Het
Cpe	G	A	8: 64,609,203	P273L	probably damaging	Het
Cpsf7	A	G	19: 10,531,782	D19G	probably benign	Het
Ddx25	C	A	9: 35,545,972	R349L	probably damaging	Het
Depdc7	T	C	2: 104,722,881	D446G	probably benign	Het
Det1	T	A	7: 78,843,935	N107I	probably benign	Het
Dock6	A	T	9: 21,844,417	D170E	probably benign	Het
Dvl1	C	T	4: 155,858,295	L673F	probably damaging	Het
Gucy1b1	A	T	3: 82,045,460	I222K	probably benign	Het
Hfm1	T	C	5: 106,917,601	T71A	possibly damaging	Het
Ikzf1	A	G	11: 11,769,223	E310G	probably damaging	Het
Impg1	T	C	9: 80,394,155	E163G	possibly damaging	Het
Itpr2	G	T	6: 146,374,456	H426Q	probably damaging	Het
Itpripl2	C	T	7: 118,490,256	G360D	probably benign	Het
Kif14	C	T	1: 136,527,305	R1572C	probably damaging	Het
L3mbtl3	A	T	10: 26,302,685	H568Q	unknown	Het
Lgi2	A	G	5: 52,554,460	Y173H	probably damaging	Het
Lpar5	A	C	6: 125,081,991	Y225S	probably benign	Het
Lpin3	A	G	2: 160,903,974	H675R	probably damaging	Het
Lrp2	C	A	2: 69,448,120	G3963V	probably damaging	Het
Man1a2	G	T	3: 100,684,575	D13E	possibly damaging	Het
Map1a	T	C	2: 121,308,014	V2753A	probably damaging	Het
Mitf	C	A	6: 98,003,904	N97K	probably damaging	Het
Msh2	A	G	17: 87,672,810		probably null	Het
Msr1	T	C	8: 39,620,000	E170G	probably damaging	Het
Myrip	C	A	9: 120,388,236	R79S	probably damaging	Het
Nek10	G	A	14: 14,857,782		probably null	Het
Neto1	C	T	18: 86,404,729	R104*	probably null	Het
Nom1	A	C	5: 29,451,100	K821T	probably damaging	Het
Nrxn1	A	G	17: 90,704,181	V340A	probably damaging	Het
Nxpe4	A	T	9: 48,396,597	I334F	probably benign	Het
Olfr1043	T	A	2: 86,162,091	N286I	probably damaging	Het
Olfr1065	C	T	2: 86,445,129	M284I	probably benign	Het
Olfr1247	T	C	2: 89,609,374	M243V	probably benign	Het
Olfr1489	T	C	19: 13,633,336	V75A	probably damaging	Het
Olfr382	A	G	11: 73,516,927	S91P	probably benign	Het
Olfr705	T	C	7: 106,713,977	K235E	probably benign	Het
Padi4	A	G	4: 140,757,585	S322P	probably damaging	Het
Peli3	A	G	19: 4,941,782	Y44H	probably damaging	Het
Prdm4	A	G	10: 85,907,903	S163P	probably damaging	Het
Ptgfr	C	T	3: 151,801,763	R321H	probably benign	Het
Rgs3	G	A	4: 62,625,906	R136H	probably damaging	Het
Rgsl1	T	G	1: 153,844,107	N3T	possibly damaging	Het
Rif1	T	C	2: 52,112,563	S2010P	probably benign	Het
Rngtt	T	C	4: 33,368,690	F408L	probably damaging	Het
Rtn3	T	G	19: 7,457,593	T326P	probably benign	Het
Slc18b1	A	C	10: 23,806,038	M167L	probably benign	Het
Slc22a26	A	G	19: 7,788,210		probably null	Het
Slitrk6	T	C	14: 110,751,885	D130G	probably damaging	Het
Snap47	A	G	11: 59,428,613	V233A	probably benign	Het
Sumf1	A	C	6: 108,144,671	Y158D	probably damaging	Het
Tbc1d15	A	T	10: 115,220,310	H252Q	probably benign	Het
Thsd7b	T	C	1: 130,188,526	S1339P	possibly damaging	Het
Tmem45a2	T	C	16: 57,049,414	I56V	probably benign	Het
Ttc21b	A	G	2: 66,236,233	S359P	probably benign	Het
Ttc27	T	C	17: 74,729,977	I215T	probably benign	Het
Ttn	C	T	2: 76,724,195	V30759I	possibly damaging	Het
Vdac3	T	C	8: 22,580,388	N168S	probably damaging	Het
Wdr7	T	C	18: 63,865,300	V1106A	probably benign	Het
Wrap73	T	A	4: 154,142,491	F16Y	probably damaging	Het
Zfat	C	A	15: 68,180,803	D381Y	probably damaging	Het

Other mutations in Prom2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Prom2	APN	2	127541139	missense	probably benign	0.04
IGL01140:Prom2	APN	2	127531205	splice site	probably benign
IGL01300:Prom2	APN	2	127535089	missense	probably benign	0.44
IGL01445:Prom2	APN	2	127539513	splice site	probably benign
IGL01472:Prom2	APN	2	127532882	missense	probably benign	0.39
IGL01541:Prom2	APN	2	127529130	critical splice donor site	probably null
IGL01991:Prom2	APN	2	127529222	missense	probably damaging	1.00
IGL02421:Prom2	APN	2	127531882	critical splice acceptor site	probably null
IGL02557:Prom2	APN	2	127529471	missense	possibly damaging	0.85
IGL02724:Prom2	APN	2	127538657	splice site	probably benign
IGL02826:Prom2	APN	2	127531116	missense	probably benign	0.07
IGL02830:Prom2	APN	2	127535069	missense	possibly damaging	0.88
IGL02990:Prom2	APN	2	127528814	missense	probably benign	0.10
R0110:Prom2	UTSW	2	127531113	missense	possibly damaging	0.53
R0133:Prom2	UTSW	2	127538338	splice site	probably benign
R0165:Prom2	UTSW	2	127539514	splice site	probably benign
R0220:Prom2	UTSW	2	127541107	missense	probably benign	0.03
R0466:Prom2	UTSW	2	127528789	missense	probably damaging	0.99
R0505:Prom2	UTSW	2	127532867	missense	possibly damaging	0.82
R0605:Prom2	UTSW	2	127539995	critical splice donor site	probably null
R0947:Prom2	UTSW	2	127538263	missense	possibly damaging	0.69
R1682:Prom2	UTSW	2	127540162	missense	possibly damaging	0.90
R1806:Prom2	UTSW	2	127532882	missense	probably damaging	1.00
R1859:Prom2	UTSW	2	127541097	missense	probably damaging	0.97
R1864:Prom2	UTSW	2	127539787	missense	probably benign	0.00
R1866:Prom2	UTSW	2	127536594	missense	probably damaging	0.99
R3824:Prom2	UTSW	2	127535673	splice site	probably benign
R4472:Prom2	UTSW	2	127540191	missense	probably benign	0.06
R5078:Prom2	UTSW	2	127531837	missense	probably benign	0.00
R5889:Prom2	UTSW	2	127529411	missense	possibly damaging	0.79
R5930:Prom2	UTSW	2	127530133	nonsense	probably null
R6214:Prom2	UTSW	2	127539775	critical splice donor site	probably null
R6215:Prom2	UTSW	2	127539775	critical splice donor site	probably null
R6914:Prom2	UTSW	2	127530375	missense	possibly damaging	0.78
R7099:Prom2	UTSW	2	127539778	missense	probably benign
R7427:Prom2	UTSW	2	127539811	missense	probably damaging	0.99
R7428:Prom2	UTSW	2	127539811	missense	probably damaging	0.99
R7525:Prom2	UTSW	2	127532781	missense	probably benign
R8477:Prom2	UTSW	2	127539204	missense	probably benign	0.01
R9287:Prom2	UTSW	2	127538265	missense	probably damaging	0.98
R9337:Prom2	UTSW	2	127529174	missense	probably damaging	0.99
Z1176:Prom2	UTSW	2	127532775	missense	probably damaging	1.00
Z1177:Prom2	UTSW	2	127538305	missense	probably damaging	1.00
Z1177:Prom2	UTSW	2	127539526	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- ACATAGGGCATTTGGCAGGATTGG -3'
(R):5'- AGTGTGAAAGCTGTCCCTGAGACC -3'

Sequencing Primer
(F):5'- CATGGTCACCCATGAGCC -3'
(R):5'- GATGTCCCTGAAGTGAGTACTATCC -3'

Posted On

2013-07-11