Mutagenetix > Incidental Mutations

Incidental Mutation 'R6133:Pramef20'

487227

Institutional Source

Beutler Lab

Gene Symbol

Pramef20

Ensembl Gene

ENSMUSG00000073721

Gene Name

PRAME family member 20

Synonyms

Gm13125, EG627009

MMRRC Submission

044280-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6133 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144372760-144377933 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144377777 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 53 (R53G)

Ref Sequence

ENSEMBL: ENSMUSP00000112488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121109]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121109
AA Change: R53G

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112488
Gene: ENSMUSG00000073721
AA Change: R53G

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	222	409	1e-11	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	A	G	8: 88,325,439	T912A	possibly damaging	Het
Akap12	G	T	10: 4,355,178	G663C	probably benign	Het
Akap2	C	T	4: 57,855,516	Q525*	probably null	Het
Ankhd1	T	C	18: 36,625,126	S958P	possibly damaging	Het
Cmtm2a	T	C	8: 104,292,730	I76V	probably benign	Het
Cpxm2	G	A	7: 132,128,453	P146S	probably damaging	Het
Cubn	A	G	2: 13,308,618	V3047A	probably benign	Het
Dgkd	T	A	1: 87,938,240	V198E	possibly damaging	Het
Dnah3	A	T	7: 120,086,246	M181K	probably benign	Het
Dnah7a	T	C	1: 53,419,655	T3775A	probably benign	Het
Dsg2	A	G	18: 20,590,089	I391V	probably benign	Het
Ebi3	T	A	17: 55,954,311	V69E	probably benign	Het
Fn1	T	C	1: 71,597,727	T1998A	probably damaging	Het
Frmpd1	T	A	4: 45,284,915	H1245Q	probably benign	Het
Gm7145	T	A	1: 117,985,888	C167S	probably damaging	Het
Hydin	C	T	8: 110,601,276	T4805I	probably benign	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Kcnma1	C	T	14: 24,003,868	M21I	probably damaging	Het
Lrfn5	A	G	12: 61,843,788	D621G	probably benign	Het
Lrrc15	C	T	16: 30,274,236	G95D	probably benign	Het
Mex3d	A	G	10: 80,386,786	L212P	probably damaging	Het
Mmel1	C	T	4: 154,895,018	H728Y	probably damaging	Het
Naip1	A	G	13: 100,444,643	V32A	probably benign	Het
Nsl1	T	C	1: 191,071,206	L158P	probably damaging	Het
Olfr638	A	T	7: 104,003,325	T17S	possibly damaging	Het
Olfr771	G	A	10: 129,160,883	L34F	possibly damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Pcdh15	A	T	10: 74,645,973		probably null	Het
Ptpn1	T	C	2: 167,967,796	V108A	possibly damaging	Het
Rad9b	T	C	5: 122,339,768	N182D	possibly damaging	Het
Rp1l1	C	T	14: 64,030,096	P1044S	probably damaging	Het
Scn2a	G	A	2: 65,743,104	V1433I	probably benign	Het
Ssrp1	T	G	2: 85,045,339		probably benign	Het
Suco	T	A	1: 161,835,183	K560*	probably null	Het
Tbx3	T	C	5: 119,680,953	V531A	probably benign	Het
Tmem30c	T	C	16: 57,277,737	Y107C	probably damaging	Het
Topbp1	T	A	9: 103,311,764		probably null	Het
Trpm5	A	T	7: 143,088,951	D86E	probably damaging	Het
Urb2	C	T	8: 124,028,561	Q336*	probably null	Het
Vmn2r43	A	G	7: 8,244,971	F731S	probably damaging	Het
Xkr9	A	G	1: 13,684,135	T118A	probably benign	Het
Zcchc2	A	C	1: 106,019,879	K117N	probably damaging	Het
Zfp52	T	C	17: 21,560,471	Y194H	probably damaging	Het
Zfp763	C	T	17: 33,018,701	C490Y	possibly damaging	Het
Zmynd19	G	T	2: 24,958,119	R148L	possibly damaging	Het

Other mutations in Pramef20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01403:Pramef20	APN	4	144377133	missense	probably benign	0.01
IGL01516:Pramef20	APN	4	144377767	missense	probably damaging	1.00
IGL02655:Pramef20	APN	4	144372846	missense	probably benign	0.05
IGL02983:Pramef20	APN	4	144373127	missense	probably benign	0.24
R0201:Pramef20	UTSW	4	144377273	splice site	probably benign
R1882:Pramef20	UTSW	4	144376915	missense	probably benign	0.03
R4440:Pramef20	UTSW	4	144372867	missense	probably benign
R4805:Pramef20	UTSW	4	144377020	missense	probably benign	0.08
R4823:Pramef20	UTSW	4	144373211	missense	possibly damaging	0.81
R4925:Pramef20	UTSW	4	144377932	start codon destroyed	probably null	1.00
R5024:Pramef20	UTSW	4	144373308	nonsense	probably null
R5472:Pramef20	UTSW	4	144377157	missense	probably benign	0.00
R6495:Pramef20	UTSW	4	144376839	missense	probably benign	0.43
R6585:Pramef20	UTSW	4	144377030	missense	possibly damaging	0.87
R6732:Pramef20	UTSW	4	144373173	missense	probably benign	0.20
R7048:Pramef20	UTSW	4	144377184	missense	probably benign	0.15
R7165:Pramef20	UTSW	4	144372819	missense	probably damaging	0.97
R7469:Pramef20	UTSW	4	144373103	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGGTTCTCCAAGCTGCTG -3'
(R):5'- TCCCTGAAGAACCATCAAGATGAG -3'

Sequencing Primer
(F):5'- GTTCTCCAAGCTGCTGGCATAAG -3'
(R):5'- CATCAAGATGAGCAGCAAGC -3'

Posted On

2017-10-10