Mutagenetix > Incidental Mutation

Incidental Mutation 'R6133:Pramel15'

487227

Institutional Source

Beutler Lab

Gene Symbol

Pramel15

Ensembl Gene

ENSMUSG00000073721

Gene Name

PRAME like 15

Synonyms

Pramef20, EG627009, Gm13125

MMRRC Submission

044280-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6133 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144099330-144104503 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144104347 bp (GRCm39)

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]

AlphaFold

B1ARV6

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: 89,052,067 (GRCm39)	T912A	possibly damaging	Het
Akap12	G	T	10: 4,305,178 (GRCm39)	G663C	probably benign	Het
Ankhd1	T	C	18: 36,758,179 (GRCm39)	S958P	possibly damaging	Het
Cmtm2a	T	C	8: 105,019,362 (GRCm39)	I76V	probably benign	Het
Cpxm2	G	A	7: 131,730,182 (GRCm39)	P146S	probably damaging	Het
Cubn	A	G	2: 13,313,429 (GRCm39)	V3047A	probably benign	Het
Dgkd	T	A	1: 87,865,962 (GRCm39)	V198E	possibly damaging	Het
Dnah3	A	T	7: 119,685,469 (GRCm39)	M181K	probably benign	Het
Dnah7a	T	C	1: 53,458,814 (GRCm39)	T3775A	probably benign	Het
Dsg2	A	G	18: 20,723,146 (GRCm39)	I391V	probably benign	Het
Ebi3	T	A	17: 56,261,311 (GRCm39)	V69E	probably benign	Het
Fn1	T	C	1: 71,636,886 (GRCm39)	T1998A	probably damaging	Het
Frmpd1	T	A	4: 45,284,915 (GRCm39)	H1245Q	probably benign	Het
Gm7145	T	A	1: 117,913,618 (GRCm39)	C167S	probably damaging	Het
Hydin	C	T	8: 111,327,908 (GRCm39)	T4805I	probably benign	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kcnma1	C	T	14: 24,053,936 (GRCm39)	M21I	probably damaging	Het
Lrfn5	A	G	12: 61,890,574 (GRCm39)	D621G	probably benign	Het
Lrrc15	C	T	16: 30,093,054 (GRCm39)	G95D	probably benign	Het
Mex3d	A	G	10: 80,222,620 (GRCm39)	L212P	probably damaging	Het
Mmel1	C	T	4: 154,979,475 (GRCm39)	H728Y	probably damaging	Het
Naip1	A	G	13: 100,581,151 (GRCm39)	V32A	probably benign	Het
Nsl1	T	C	1: 190,803,403 (GRCm39)	L158P	probably damaging	Het
Or51q1c	A	T	7: 103,652,532 (GRCm39)	T17S	possibly damaging	Het
Or6c202	G	A	10: 128,996,752 (GRCm39)	L34F	possibly damaging	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Pakap	C	T	4: 57,855,516 (GRCm39)	Q525*	probably null	Het
Pcdh15	A	T	10: 74,481,805 (GRCm39)		probably null	Het
Ptpn1	T	C	2: 167,809,716 (GRCm39)	V108A	possibly damaging	Het
Rad9b	T	C	5: 122,477,831 (GRCm39)	N182D	possibly damaging	Het
Rp1l1	C	T	14: 64,267,545 (GRCm39)	P1044S	probably damaging	Het
Scn2a	G	A	2: 65,573,448 (GRCm39)	V1433I	probably benign	Het
Ssrp1	T	G	2: 84,875,683 (GRCm39)		probably benign	Het
Suco	T	A	1: 161,662,752 (GRCm39)	K560*	probably null	Het
Tbx3	T	C	5: 119,819,018 (GRCm39)	V531A	probably benign	Het
Tmem30c	T	C	16: 57,098,100 (GRCm39)	Y107C	probably damaging	Het
Topbp1	T	A	9: 103,188,963 (GRCm39)		probably null	Het
Trpm5	A	T	7: 142,642,688 (GRCm39)	D86E	probably damaging	Het
Urb2	C	T	8: 124,755,300 (GRCm39)	Q336*	probably null	Het
Vmn2r43	A	G	7: 8,247,970 (GRCm39)	F731S	probably damaging	Het
Xkr9	A	G	1: 13,754,359 (GRCm39)	T118A	probably benign	Het
Zcchc2	A	C	1: 105,947,609 (GRCm39)	K117N	probably damaging	Het
Zfp52	T	C	17: 21,780,733 (GRCm39)	Y194H	probably damaging	Het
Zfp763	C	T	17: 33,237,675 (GRCm39)	C490Y	possibly damaging	Het
Zmynd19	G	T	2: 24,848,131 (GRCm39)	R148L	possibly damaging	Het

Other mutations in Pramel15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01403:Pramel15	APN	4	144,103,703 (GRCm39)	missense	probably benign	0.01
IGL01516:Pramel15	APN	4	144,104,337 (GRCm39)	missense	probably damaging	1.00
IGL02655:Pramel15	APN	4	144,099,416 (GRCm39)	missense	probably benign	0.05
IGL02983:Pramel15	APN	4	144,099,697 (GRCm39)	missense	probably benign	0.24
R0201:Pramel15	UTSW	4	144,103,843 (GRCm39)	splice site	probably benign
R1882:Pramel15	UTSW	4	144,103,485 (GRCm39)	missense	probably benign	0.03
R4440:Pramel15	UTSW	4	144,099,437 (GRCm39)	missense	probably benign
R4805:Pramel15	UTSW	4	144,103,590 (GRCm39)	missense	probably benign	0.08
R4823:Pramel15	UTSW	4	144,099,781 (GRCm39)	missense	possibly damaging	0.81
R4925:Pramel15	UTSW	4	144,104,502 (GRCm39)	start codon destroyed	probably null	1.00
R5024:Pramel15	UTSW	4	144,099,878 (GRCm39)	nonsense	probably null
R5472:Pramel15	UTSW	4	144,103,727 (GRCm39)	missense	probably benign	0.00
R6495:Pramel15	UTSW	4	144,103,409 (GRCm39)	missense	probably benign	0.43
R6585:Pramel15	UTSW	4	144,103,600 (GRCm39)	missense	possibly damaging	0.87
R6732:Pramel15	UTSW	4	144,099,743 (GRCm39)	missense	probably benign	0.20
R7048:Pramel15	UTSW	4	144,103,754 (GRCm39)	missense	probably benign	0.15
R7165:Pramel15	UTSW	4	144,099,389 (GRCm39)	missense	probably damaging	0.97
R7469:Pramel15	UTSW	4	144,099,673 (GRCm39)	missense	probably damaging	1.00
R8873:Pramel15	UTSW	4	144,099,871 (GRCm39)	missense	probably benign	0.43
R8891:Pramel15	UTSW	4	144,099,397 (GRCm39)	missense	probably damaging	0.99
R8909:Pramel15	UTSW	4	144,103,553 (GRCm39)	missense	probably benign	0.06
R9597:Pramel15	UTSW	4	144,103,526 (GRCm39)	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