Mutagenetix > Incidental Mutation

Incidental Mutation 'R1866:Prom2'

208697

Institutional Source

Beutler Lab

Gene Symbol

Prom2

Ensembl Gene

ENSMUSG00000027376

Gene Name

prominin 2

Synonyms

MMRRC Submission

039889-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1866 (G1)

Quality Score

214

Status

Not validated

Chromosome

Chromosomal Location

127368873-127383337 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127378514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 460 (D460G)

Ref Sequence

ENSEMBL: ENSMUSP00000099503 (fasta)

Gene Model

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

AlphaFold

Q3UUY6

Predicted Effect

probably damaging
Transcript: ENSMUST00000028855
AA Change: D460G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028855
Gene: ENSMUSG00000027376
AA Change: D460G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000103214
AA Change: D460G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099503
Gene: ENSMUSG00000027376
AA Change: D460G

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: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apba1	A	T	19: 23,870,195 (GRCm39)	E9V	probably benign	Het
Armc8	T	A	9: 99,418,333 (GRCm39)	T32S	probably benign	Het
Atr	T	A	9: 95,752,658 (GRCm39)		probably null	Het
Blm	A	G	7: 80,143,862 (GRCm39)	L859P	probably benign	Het
Cacna2d3	A	T	14: 28,691,171 (GRCm39)	F51L	probably damaging	Het
Cdcp2	A	G	4: 106,964,197 (GRCm39)	N349S	probably damaging	Het
Cfap57	G	A	4: 118,457,124 (GRCm39)	H442Y	possibly damaging	Het
Chrm3	A	G	13: 9,928,517 (GRCm39)	L173P	probably damaging	Het
Cpb1	C	G	3: 20,317,920 (GRCm39)	M201I	probably benign	Het
Dgcr8	A	T	16: 18,076,178 (GRCm39)	N2K	probably damaging	Het
Dnah3	A	T	7: 119,528,079 (GRCm39)		probably null	Het
Dnah6	T	A	6: 73,077,071 (GRCm39)	Q2398L	probably benign	Het
Dpep2	A	T	8: 106,716,080 (GRCm39)		probably null	Het
Eif2ak4	C	A	2: 118,303,142 (GRCm39)	T1504K	probably damaging	Het
Exoc6b	A	G	6: 84,828,896 (GRCm39)	V496A	probably damaging	Het
Fam174a	A	C	1: 95,241,620 (GRCm39)	S27R	probably benign	Het
Fat2	T	A	11: 55,182,840 (GRCm39)	Q1339L	probably benign	Het
Fkbpl	T	A	17: 34,864,797 (GRCm39)	D188E	possibly damaging	Het
Focad	A	G	4: 88,325,402 (GRCm39)	D89G	possibly damaging	Het
Fstl4	C	A	11: 53,077,225 (GRCm39)	Q661K	probably benign	Het
Gck	T	C	11: 5,853,253 (GRCm39)	Y289C	probably benign	Het
Gm16181	T	A	17: 35,442,913 (GRCm39)		probably benign	Het
Herc1	G	A	9: 66,358,073 (GRCm39)	G2385S	probably damaging	Het
Igfn1	T	C	1: 135,902,606 (GRCm39)		probably null	Het
Il12b	T	C	11: 44,299,353 (GRCm39)	W141R	probably damaging	Het
Itga6	T	A	2: 71,664,414 (GRCm39)	S517T	probably benign	Het
Kank1	A	G	19: 25,388,813 (GRCm39)	S801G	probably benign	Het
Klrh1	A	G	6: 129,752,343 (GRCm39)		probably null	Het
Lctl	A	G	9: 64,039,003 (GRCm39)	D205G	probably damaging	Het
Lhx3	A	C	2: 26,093,986 (GRCm39)	V79G	probably damaging	Het
Lrrc9	T	C	12: 72,543,912 (GRCm39)	I1127T	probably damaging	Het
Ltbp3	A	T	19: 5,797,877 (GRCm39)	E505D	probably benign	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Map6	A	G	7: 98,965,083 (GRCm39)	S291G	probably damaging	Het
Mapk7	A	G	11: 61,380,239 (GRCm39)	F671L	probably benign	Het
Mau2	A	G	8: 70,484,142 (GRCm39)	W149R	probably damaging	Het
Mb21d2	C	T	16: 28,647,267 (GRCm39)	V236I	possibly damaging	Het
Mc5r	C	G	18: 68,471,741 (GRCm39)		probably null	Het
Mical1	C	A	10: 41,361,466 (GRCm39)	P797Q	probably benign	Het
Mnx1	G	A	5: 29,679,043 (GRCm39)	R347C	unknown	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Nlrp2	G	T	7: 5,330,715 (GRCm39)	C560*	probably null	Het
Npat	T	A	9: 53,474,416 (GRCm39)	L736H	probably damaging	Het
Nup155	T	A	15: 8,145,010 (GRCm39)	V147E	probably damaging	Het
Nxpe2	A	G	9: 48,238,121 (GRCm39)	F45L	probably benign	Het
Obscn	T	C	11: 58,951,741 (GRCm39)	D4370G	probably benign	Het
Or2d3b	A	G	7: 106,514,273 (GRCm39)	I289M	probably damaging	Het
Or4a79	T	C	2: 89,551,550 (GRCm39)	K302E	probably benign	Het
Or4c35	T	C	2: 89,808,671 (GRCm39)	L183S	probably damaging	Het
Or4d10	A	G	19: 12,051,183 (GRCm39)	V271A	probably benign	Het
Or52n4	A	G	7: 104,294,004 (GRCm39)	S190P	probably benign	Het
Or5g23	T	A	2: 85,439,188 (GRCm39)	H22L	probably benign	Het
Or8k3	A	C	2: 86,059,072 (GRCm39)	M81R	probably damaging	Het
Pcx	T	C	19: 4,671,249 (GRCm39)	I1157T	possibly damaging	Het
Pias2	T	A	18: 77,240,412 (GRCm39)	S589R	probably benign	Het
Plcb1	T	C	2: 135,186,093 (GRCm39)	F687L	probably benign	Het
Plk5	G	T	10: 80,196,403 (GRCm39)		probably null	Het
Pnpla2	T	A	7: 141,035,329 (GRCm39)	Y44N	probably damaging	Het
Ppp1r12a	T	A	10: 108,098,292 (GRCm39)	D337E	possibly damaging	Het
Prl2c5	G	T	13: 13,365,358 (GRCm39)		probably null	Het
Pros1	A	G	16: 62,748,498 (GRCm39)	H657R	possibly damaging	Het
Prune2	A	G	19: 17,100,856 (GRCm39)	E2120G	probably damaging	Het
Rap2a	T	A	14: 120,716,347 (GRCm39)	L70Q	probably damaging	Het
Rbl2	A	T	8: 91,839,157 (GRCm39)	E858D	probably benign	Het
Rbm48	T	C	5: 3,645,997 (GRCm39)	Y69C	probably damaging	Het
Rgs12	T	A	5: 35,123,018 (GRCm39)	I267N	probably damaging	Het
Rpusd2	G	T	2: 118,865,728 (GRCm39)	A142S	probably benign	Het
Rspo2	A	T	15: 42,939,332 (GRCm39)	W153R	probably damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Serinc5	T	A	13: 92,842,771 (GRCm39)	M407K	probably damaging	Het
Slain2	T	C	5: 73,114,665 (GRCm39)	S299P	probably damaging	Het
Slc17a4	A	G	13: 24,084,528 (GRCm39)	Y419H	possibly damaging	Het
Slc1a6	T	A	10: 78,627,183 (GRCm39)	D173E	probably damaging	Het
Slc22a19	A	T	19: 7,688,506 (GRCm39)	I18N	probably damaging	Het
Slc37a3	A	T	6: 39,336,902 (GRCm39)	F91L	probably damaging	Het
Spag5	C	A	11: 78,195,281 (GRCm39)	T196K	possibly damaging	Het
Susd2	G	T	10: 75,475,566 (GRCm39)	A326D	probably damaging	Het
Syna	G	T	5: 134,588,769 (GRCm39)	A60D	probably damaging	Het
Tchh	A	T	3: 93,355,067 (GRCm39)	E1502D	unknown	Het
Tecta	T	C	9: 42,303,320 (GRCm39)	H104R	probably damaging	Het
Tmed1	T	C	9: 21,420,387 (GRCm39)	D102G	probably damaging	Het
Trip12	T	C	1: 84,722,781 (GRCm39)	D128G	probably damaging	Het
Uroc1	A	G	6: 90,338,506 (GRCm39)	M656V	probably benign	Het
Usp47	T	A	7: 111,701,077 (GRCm39)	V1096D	possibly damaging	Het
Utp20	T	A	10: 88,598,632 (GRCm39)	K115*	probably null	Het
Vmn2r19	G	T	6: 123,308,597 (GRCm39)		probably null	Het
Vmn2r86	A	T	10: 130,282,255 (GRCm39)	V787D	probably damaging	Het
Vmn2r87	A	T	10: 130,308,441 (GRCm39)	I599N	possibly damaging	Het
Vwf	A	G	6: 125,644,492 (GRCm39)	D2449G	possibly damaging	Het
Zbtb7c	T	A	18: 76,269,977 (GRCm39)	C22S	probably benign	Het
Zc3h7a	A	G	16: 10,965,168 (GRCm39)	I655T	possibly damaging	Het
Zfp764l1	A	G	7: 126,992,503 (GRCm39)	W36R	probably damaging	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
IGL02724:Prom2	APN	2	127,380,577 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- ACTATTGGTGTTGCGCTTCC -3'
(R):5'- TCTAAAGATCCAGTCTGGTGCC -3'

Sequencing Primer
(F):5'- TTGCTCAGAGTCACTCAAGG -3'
(R):5'- CTAAAGATCCAGTCTGGTGCCTAGAG -3'

Posted On

2014-06-30