Mutagenetix > Incidental Mutation

Incidental Mutation 'R2894:Pramef25'

260690

Institutional Source

Beutler Lab

Gene Symbol

Pramef25

Ensembl Gene

ENSMUSG00000078511

Gene Name

PRAME family member 25

Synonyms

Gm13109

MMRRC Submission

040482-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R2894 (G1)

Quality Score

153

Status

Not validated

Chromosome

Chromosomal Location

143948580-143951016 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143949122 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 378 (M378K)

Ref Sequence

ENSEMBL: ENSMUSP00000101392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105766]

AlphaFold

A2ASI9

Predicted Effect

probably damaging
Transcript: ENSMUST00000105766
AA Change: M378K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101392
Gene: ENSMUSG00000078511
AA Change: M378K

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	223	427	2e-10	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,580,386	A115T	probably benign	Het
Acox3	A	G	5: 35,599,848	I344V	probably benign	Het
Ank2	T	C	3: 127,248,243		probably null	Het
Ccl4	C	A	11: 83,663,503		probably null	Het
Cdh15	G	A	8: 122,856,635	R59H	probably benign	Het
Cdk5rap2	T	C	4: 70,289,873	K779E	probably benign	Het
Cenpu	C	A	8: 46,576,349	N212K	probably damaging	Het
Dcun1d2	A	T	8: 13,278,649	I86N	probably damaging	Het
Dnah1	T	A	14: 31,298,761	E1217V	possibly damaging	Het
Dusp15	T	C	2: 152,949,085	I31V	probably benign	Het
Ern2	A	C	7: 122,181,587	S114A	possibly damaging	Het
F11	A	G	8: 45,248,638	S353P	probably damaging	Het
Fmo6	C	T	1: 162,922,724	W254*	probably null	Het
Gm16494	T	C	17: 47,016,706	E84G	unknown	Het
Kdr	A	G	5: 75,946,836	F1016L	probably damaging	Het
Lrrc37a	G	A	11: 103,497,864	T2245I	unknown	Het
Mdga1	T	C	17: 29,852,504	Y381C	probably damaging	Het
Msh3	G	T	13: 92,342,360	A367D	probably benign	Het
Nadk	A	G	4: 155,587,360	N232S	possibly damaging	Het
Olfr558	A	G	7: 102,709,675	T139A	probably damaging	Het
Olfr847	A	T	9: 19,375,292	Y196*	probably null	Het
Per2	C	A	1: 91,445,603	Q154H	probably damaging	Het
Pik3ap1	G	A	19: 41,376,061	A73V	probably benign	Het
Rad18	G	A	6: 112,675,773	Q288*	probably null	Het
Rarb	T	C	14: 16,435,146	D300G	probably damaging	Het
Ruvbl1	C	T	6: 88,479,132	R63W	possibly damaging	Het
Setdb2	T	C	14: 59,426,467	N77S	probably benign	Het
Slc22a19	C	A	19: 7,692,804	K228N	probably benign	Het
Thoc6	A	G	17: 23,669,035	S292P	probably damaging	Het
Tmem126b	A	T	7: 90,470,913	S83R	probably damaging	Het
Tmem232	C	T	17: 65,450,413	E262K	probably damaging	Het
Vmn2r60	T	C	7: 42,135,796	V144A	probably benign	Het
Vpreb3	C	T	10: 75,943,222		probably benign	Het
Vwa8	A	G	14: 79,038,138	N787S	probably damaging	Het

Other mutations in Pramef25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Pramef25	APN	4	143950214	splice site	probably benign
IGL01562:Pramef25	APN	4	143950865	missense	probably damaging	1.00
IGL02422:Pramef25	APN	4	143949883	missense	probably benign	0.25
IGL02632:Pramef25	APN	4	143949937	missense	possibly damaging	0.84
IGL02745:Pramef25	APN	4	143950724	missense	probably damaging	1.00
IGL02808:Pramef25	APN	4	143951015	utr 5 prime	probably benign
IGL02883:Pramef25	APN	4	143949848	missense	possibly damaging	0.64
IGL02961:Pramef25	APN	4	143949147	missense	probably damaging	1.00
IGL03092:Pramef25	APN	4	143950197	missense	probably damaging	0.97
FR4340:Pramef25	UTSW	4	143949742	missense	probably damaging	0.99
FR4342:Pramef25	UTSW	4	143949742	missense	probably damaging	0.99
FR4342:Pramef25	UTSW	4	143949757	frame shift	probably null
R0533:Pramef25	UTSW	4	143950720	missense	possibly damaging	0.85
R0606:Pramef25	UTSW	4	143949883	missense	probably benign	0.25
R1624:Pramef25	UTSW	4	143949830	missense	possibly damaging	0.47
R1898:Pramef25	UTSW	4	143950728	missense	probably damaging	1.00
R2029:Pramef25	UTSW	4	143949883	missense	probably benign	0.25
R2867:Pramef25	UTSW	4	143948886	missense	probably benign	0.00
R2867:Pramef25	UTSW	4	143948886	missense	probably benign	0.00
R4111:Pramef25	UTSW	4	143949905	missense	possibly damaging	0.93
R4298:Pramef25	UTSW	4	143949143	nonsense	probably null
R4360:Pramef25	UTSW	4	143950863	missense	possibly damaging	0.81
R4361:Pramef25	UTSW	4	143950863	missense	possibly damaging	0.81
R5137:Pramef25	UTSW	4	143949120	missense	probably benign	0.08
R5195:Pramef25	UTSW	4	143950880	missense	probably damaging	0.99
R5312:Pramef25	UTSW	4	143949095	missense	possibly damaging	0.96
R5548:Pramef25	UTSW	4	143949980	missense	probably benign	0.24
R5591:Pramef25	UTSW	4	143948807	missense	probably damaging	1.00
R5644:Pramef25	UTSW	4	143948804	missense	probably benign	0.01
R6018:Pramef25	UTSW	4	143950899	missense	possibly damaging	0.61
R6177:Pramef25	UTSW	4	143949006	missense	possibly damaging	0.51
R6335:Pramef25	UTSW	4	143949032	missense	probably benign	0.02
R6376:Pramef25	UTSW	4	143950697	missense	probably benign	0.03
R6572:Pramef25	UTSW	4	143949692	missense	probably benign	0.01
R6845:Pramef25	UTSW	4	143949824	missense	probably benign
R6939:Pramef25	UTSW	4	143948796	missense	probably benign	0.09
R7081:Pramef25	UTSW	4	143949278	missense	probably damaging	1.00
R7505:Pramef25	UTSW	4	143949703	missense	possibly damaging	0.94
R7711:Pramef25	UTSW	4	143949252	missense	probably benign	0.22
R8284:Pramef25	UTSW	4	143950125	missense	possibly damaging	0.95
R8297:Pramef25	UTSW	4	143949120	missense	probably benign	0.08
R8299:Pramef25	UTSW	4	143950757	missense	probably benign	0.24
R8700:Pramef25	UTSW	4	143949131	missense	possibly damaging	0.51
R9179:Pramef25	UTSW	4	143949724	missense	probably benign	0.01
R9199:Pramef25	UTSW	4	143949086	missense	probably damaging	1.00
R9214:Pramef25	UTSW	4	143949180	missense	probably benign	0.00
R9411:Pramef25	UTSW	4	143949645	missense	probably damaging	1.00
RF011:Pramef25	UTSW	4	143948908	missense	probably damaging	0.96
RF013:Pramef25	UTSW	4	143948908	missense	probably damaging	0.96
RF021:Pramef25	UTSW	4	143948908	missense	probably damaging	0.96
Z1176:Pramef25	UTSW	4	143950123	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TCTGCTCTAAGAACAAAACCGG -3'
(R):5'- TGGAGTTCCTGTCAATTGCTC -3'

Sequencing Primer
(F):5'- CGGTTTCATAGCACTCCAGAG -3'
(R):5'- TCTCTGCAAGTACTCACAGTCAG -3'

Posted On

2015-01-23