Mutagenetix > Incidental Mutation

Incidental Mutation 'R2867:Pramef25'

266383

Institutional Source

Beutler Lab

Gene Symbol

Pramef25

Ensembl Gene

ENSMUSG00000078511

Gene Name

PRAME family member 25

Synonyms

Gm13109

MMRRC Submission

040456-MU

Accession Numbers

Essential gene?

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

Stock #

R2867 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143948580-143951016 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 143948886 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 457 (I457L)

Ref Sequence

ENSEMBL: ENSMUSP00000101392 (fasta)

Gene Model

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

AlphaFold

A2ASI9

Predicted Effect

probably benign
Transcript: ENSMUST00000105766
AA Change: I457L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101392
Gene: ENSMUSG00000078511
AA Change: I457L

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (30/31)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adss	T	C	1: 177,767,812		probably null	Het
Arid3c	T	C	4: 41,725,958	D215G	probably damaging	Het
Birc2	A	C	9: 7,834,477	M1R	probably null	Het
Caprin2	G	A	6: 148,846,240		silent	Het
Cog4	C	A	8: 110,866,659		probably benign	Het
Cpz	T	C	5: 35,502,361	K647E	probably benign	Het
Ctnna2	T	C	6: 77,114,922		probably benign	Het
Cyp7a1	T	C	4: 6,272,493	E240G	probably damaging	Het
Efhc2	A	T	X: 17,161,245		probably benign	Homo
Epha6	T	C	16: 59,960,296		probably null	Het
Evc	T	A	5: 37,316,275		probably benign	Het
Fbf1	A	G	11: 116,161,448		probably benign	Het
Grin2b	A	G	6: 135,733,639	F970L	probably damaging	Het
Gtf3c4	A	G	2: 28,839,904		probably benign	Het
Kcnma1	A	T	14: 23,373,207	N682K	probably benign	Het
Kif20b	A	G	19: 34,940,128	E631G	probably damaging	Het
Lctl	T	C	9: 64,137,868	S550P	probably benign	Het
Lrrc6	A	T	15: 66,438,408	L337*	probably null	Het
Mapk10	C	T	5: 103,038,682	D25N	probably benign	Het
Mgst2	A	G	3: 51,664,533		silent	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
N4bp1	T	C	8: 86,861,405	N302D	probably benign	Het
Pcdh7	A	T	5: 57,721,894	K930N	probably damaging	Het
Proca1	A	T	11: 78,204,980	N146I	probably damaging	Het
RP23-211L5.9	T	C	6: 68,895,650		probably null	Het
Ryr2	A	T	13: 11,761,349	W1101R	probably damaging	Het
Slc35d3	T	C	10: 19,849,463	T216A	probably benign	Het
Terb1	C	T	8: 104,447,853		probably benign	Het
Thnsl2	C	A	6: 71,131,961	D289Y	probably damaging	Het
Tigd4	A	G	3: 84,593,952	N59D	possibly damaging	Het
Togaram2	T	C	17: 71,709,597	S649P	probably benign	Het
Tradd	G	T	8: 105,259,513	F182L	probably benign	Het
Trav17	A	T	14: 53,806,926	Y50F	probably benign	Het
Usp37	A	T	1: 74,450,532	D808E	probably damaging	Het
Usp42	G	A	5: 143,715,464	P935S	possibly damaging	Het
Vmn2r23	A	G	6: 123,713,164	D333G	possibly damaging	Het
Zfpm2	C	T	15: 41,099,389	A149V	probably benign	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
R2894:Pramef25	UTSW	4	143949122	missense	probably damaging	1.00
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'- GTTCAGGAACCCCTTGATCATAG -3'
(R):5'- TCCCTGCCCTGAATAAGTGC -3'

Sequencing Primer
(F):5'- GGAACCCCTTGATCATAGACTTG -3'
(R):5'- ATAAGTGCTCTCAGCTCATCGAGG -3'

Posted On

2015-02-18