Mutagenetix > Incidental Mutation

Incidental Mutation 'R2912:Pramel13'

261296

Institutional Source

Beutler Lab

Gene Symbol

Pramel13

Ensembl Gene

ENSMUSG00000028591

Gene Name

PRAME like 13

Synonyms

4930569K13Rik, Pramef12

MMRRC Submission

040499-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R2912 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144118244-144135034 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144119304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 421 (E421G)

Ref Sequence

ENSEMBL: ENSMUSP00000030326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030326] [ENSMUST00000123854]

AlphaFold

Q9D2F1

Predicted Effect

probably damaging
Transcript: ENSMUST00000030326
AA Change: E421G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030326
Gene: ENSMUSG00000028591
AA Change: E421G

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	223	414	7e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123854

Meta Mutation Damage Score

0.5935

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aloxe3	A	T	11: 69,020,866 (GRCm39)	K197M	probably damaging	Het
Asxl2	A	G	12: 3,524,517 (GRCm39)	K182E	probably benign	Het
Birc6	A	G	17: 74,999,201 (GRCm39)	D4643G	probably damaging	Het
Bmpr1b	T	C	3: 141,586,139 (GRCm39)	D41G	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Creb3l1	T	C	2: 91,817,398 (GRCm39)	T372A	possibly damaging	Het
Dbn1	A	G	13: 55,630,234 (GRCm39)	F45L	probably damaging	Het
Dhx29	A	G	13: 113,072,109 (GRCm39)	E251G	probably damaging	Het
Dnajc27	C	T	12: 4,146,280 (GRCm39)	S103L	probably damaging	Het
Dync1li1	T	G	9: 114,544,743 (GRCm39)	N348K	probably benign	Het
Emc1	T	C	4: 139,092,571 (GRCm39)	S504P	possibly damaging	Het
F5	A	G	1: 164,021,488 (GRCm39)	D1321G	probably damaging	Het
Garin4	T	C	1: 190,895,425 (GRCm39)	N406S	probably benign	Het
Gpr157	G	A	4: 150,183,222 (GRCm39)	V131I	probably benign	Het
Hprt1	T	C	X: 52,109,016 (GRCm39)	Y174H	probably damaging	Het
Kcnq2	A	G	2: 180,723,567 (GRCm39)	V603A	probably damaging	Het
Lama2	T	C	10: 26,876,799 (GRCm39)	S2716G	probably benign	Het
Lax1	A	G	1: 133,611,791 (GRCm39)	V48A	possibly damaging	Het
Macf1	T	A	4: 123,369,704 (GRCm39)	I121F	probably damaging	Het
Med17	A	G	9: 15,187,210 (GRCm39)	L188P	probably damaging	Het
Mfsd5	A	G	15: 102,189,743 (GRCm39)	T372A	probably benign	Het
Mrgprb5	T	C	7: 47,817,815 (GRCm39)	S307G	probably benign	Het
Mroh9	T	C	1: 162,871,572 (GRCm39)	Y637C	probably damaging	Het
Nherf2	C	T	17: 24,861,215 (GRCm39)	G71S	probably damaging	Het
Nktr	T	C	9: 121,578,670 (GRCm39)		probably benign	Het
Nrg1	A	G	8: 32,308,595 (GRCm39)	S474P	probably damaging	Het
Nup210	T	G	6: 91,003,956 (GRCm39)	D644A	probably damaging	Het
Or10ak7	A	G	4: 118,791,898 (GRCm39)	I47T	probably benign	Het
Or4c11	A	T	2: 88,695,458 (GRCm39)	N170Y	probably benign	Het
Or5j3	A	G	2: 86,128,733 (GRCm39)	D191G	probably damaging	Het
Or8g34	T	C	9: 39,373,512 (GRCm39)	Y259H	probably damaging	Het
Panx2	A	G	15: 88,954,024 (GRCm39)	I660V	probably benign	Het
Prx	C	T	7: 27,215,654 (GRCm39)	P52S	probably damaging	Het
Ptprf	A	G	4: 118,106,177 (GRCm39)	S206P	probably damaging	Het
Rbm45	C	T	2: 76,205,798 (GRCm39)	P217S	probably benign	Het
Rfx6	A	G	10: 51,594,226 (GRCm39)	D382G	probably damaging	Het
Ric3	A	G	7: 108,653,660 (GRCm39)	F144L	possibly damaging	Het
Snx29	C	T	16: 11,265,317 (GRCm39)	R516W	probably damaging	Het
Trank1	T	C	9: 111,221,551 (GRCm39)	S2763P	probably damaging	Het
Vmn1r42	T	C	6: 89,821,688 (GRCm39)	M294V	probably benign	Het
Zfp467	C	A	6: 48,416,010 (GRCm39)	R214L	possibly damaging	Het
Zfp750	C	A	11: 121,403,153 (GRCm39)	A532S	probably benign	Het
Zscan4d	G	A	7: 10,896,614 (GRCm39)	P252L	probably benign	Het

Other mutations in Pramel13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Pramel13	APN	4	144,121,310 (GRCm39)	missense	possibly damaging	0.91
IGL01107:Pramel13	APN	4	144,119,664 (GRCm39)	missense	probably benign	0.00
IGL01935:Pramel13	APN	4	144,119,172 (GRCm39)	unclassified	probably benign
IGL02436:Pramel13	APN	4	144,119,539 (GRCm39)	missense	possibly damaging	0.95
IGL02491:Pramel13	APN	4	144,121,322 (GRCm39)	missense	probably damaging	1.00
IGL02744:Pramel13	APN	4	144,119,493 (GRCm39)	missense	probably damaging	1.00
IGL03338:Pramel13	APN	4	144,121,397 (GRCm39)	missense	probably benign	0.01
R0005:Pramel13	UTSW	4	144,122,423 (GRCm39)	missense	probably damaging	1.00
R1401:Pramel13	UTSW	4	144,121,658 (GRCm39)	missense	probably benign	0.00
R1611:Pramel13	UTSW	4	144,119,382 (GRCm39)	missense	probably benign	0.20
R1667:Pramel13	UTSW	4	144,119,606 (GRCm39)	nonsense	probably null
R2017:Pramel13	UTSW	4	144,121,244 (GRCm39)	missense	possibly damaging	0.49
R2290:Pramel13	UTSW	4	144,121,692 (GRCm39)	missense	probably benign	0.19
R2290:Pramel13	UTSW	4	144,121,269 (GRCm39)	missense	probably benign	0.00
R2310:Pramel13	UTSW	4	144,119,475 (GRCm39)	splice site	probably null
R2913:Pramel13	UTSW	4	144,119,304 (GRCm39)	missense	probably damaging	1.00
R4558:Pramel13	UTSW	4	144,122,542 (GRCm39)	start codon destroyed	probably null	1.00
R5162:Pramel13	UTSW	4	144,121,482 (GRCm39)	missense	probably damaging	0.96
R5521:Pramel13	UTSW	4	144,122,541 (GRCm39)	start codon destroyed	probably null	1.00
R5530:Pramel13	UTSW	4	144,119,232 (GRCm39)	missense	probably benign	0.03
R5669:Pramel13	UTSW	4	144,122,413 (GRCm39)	missense	probably benign	0.03
R6032:Pramel13	UTSW	4	144,119,598 (GRCm39)	missense	possibly damaging	0.82
R6032:Pramel13	UTSW	4	144,119,598 (GRCm39)	missense	possibly damaging	0.82
R6314:Pramel13	UTSW	4	144,121,157 (GRCm39)	missense	probably damaging	0.98
R6322:Pramel13	UTSW	4	144,119,475 (GRCm39)	missense	probably benign	0.09
R6431:Pramel13	UTSW	4	144,119,653 (GRCm39)	missense	possibly damaging	0.83
R7729:Pramel13	UTSW	4	144,119,434 (GRCm39)	missense	probably damaging	1.00
R8324:Pramel13	UTSW	4	144,122,427 (GRCm39)	missense	probably damaging	1.00
R8778:Pramel13	UTSW	4	144,119,466 (GRCm39)	missense	probably damaging	1.00
R9711:Pramel13	UTSW	4	144,122,517 (GRCm39)	missense	probably damaging	1.00
Z1187:Pramel13	UTSW	4	144,122,517 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCATATAAGTACTCAGTTAGGG -3'
(R):5'- AGACCCTGGACTTGGAGAAC -3'

Sequencing Primer
(F):5'- TACTCAGTTAGGGGAACAGCC -3'
(R):5'- GGAGAACTGTATGATTATGGACTCCC -3'

Posted On

2015-01-23