Mutagenetix > Incidental Mutation

Incidental Mutation 'R7544:Pramel51'

584107

Institutional Source

Beutler Lab

Gene Symbol

Pramel51

Ensembl Gene

ENSMUSG00000066027

Gene Name

PRAME like 51

Synonyms

Gm10436

MMRRC Submission

045616-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R7544 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88142359-88148664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88142850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 451 (Y451F)

Ref Sequence

ENSEMBL: ENSMUSP00000071508 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071580] [ENSMUST00000220521] [ENSMUST00000222081] [ENSMUST00000223172]

AlphaFold

L7N1Y3

Predicted Effect

probably benign
Transcript: ENSMUST00000071580
AA Change: Y451F

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

SMART Domains

Protein: ENSMUSP00000071508
Gene: ENSMUSG00000066027
AA Change: Y451F

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	247	445	5e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000220521
AA Change: Y256F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000221884

Predicted Effect

probably benign
Transcript: ENSMUST00000222081

Predicted Effect

probably benign
Transcript: ENSMUST00000222391

Predicted Effect

probably benign
Transcript: ENSMUST00000222556

Predicted Effect

probably benign
Transcript: ENSMUST00000223172

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	T	11: 72,089,765 (GRCm39)	V40I	probably damaging	Het
Abcb11	T	C	2: 69,095,830 (GRCm39)	K837E	probably benign	Het
Arhgef10	T	C	8: 15,029,854 (GRCm39)	S919P	probably benign	Het
Atxn2	T	C	5: 121,919,431 (GRCm39)	S530P	probably damaging	Het
Bicc1	T	C	10: 70,792,204 (GRCm39)	E268G	possibly damaging	Het
Bnip5	G	A	17: 29,124,298 (GRCm39)	R335W	probably damaging	Het
Capn7	T	G	14: 31,062,007 (GRCm39)	L40V	probably damaging	Het
Cd28	A	T	1: 60,808,859 (GRCm39)	N191I	probably damaging	Het
Cfap69	G	A	5: 5,645,936 (GRCm39)	T588M	not run	Het
Csmd1	T	C	8: 16,142,310 (GRCm39)	E1531G	probably damaging	Het
Cyp4a14	T	A	4: 115,348,283 (GRCm39)	D398V	probably damaging	Het
Dchs2	T	C	3: 83,262,434 (GRCm39)	S2901P	probably damaging	Het
Ddx11	G	A	17: 66,433,280 (GRCm39)	G37S	probably damaging	Het
Diaph1	A	T	18: 38,026,322 (GRCm39)		probably null	Het
Ech1	T	C	7: 28,525,392 (GRCm39)	V49A	probably benign	Het
Elovl4	T	C	9: 83,665,271 (GRCm39)	Y196C	probably damaging	Het
Ern2	G	A	7: 121,772,422 (GRCm39)	L679F	probably benign	Het
Fbf1	A	T	11: 116,056,659 (GRCm39)	M17K	probably benign	Het
Flvcr1	C	A	1: 190,758,143 (GRCm39)	G50W	probably damaging	Het
Fryl	A	G	5: 73,238,382 (GRCm39)	S1455P	probably benign	Het
Fzd9	A	G	5: 135,278,716 (GRCm39)	Y390H	probably damaging	Het
Gnai3	C	T	3: 108,025,702 (GRCm39)	V126M		Het
Gpc5	T	C	14: 115,665,585 (GRCm39)	F470L	probably damaging	Het
Grin1	T	C	2: 25,195,086 (GRCm39)	N332S	probably benign	Het
Gtf3c5	T	A	2: 28,469,554 (GRCm39)	I117F	possibly damaging	Het
Hydin	A	T	8: 111,316,157 (GRCm39)	S4350C	probably benign	Het
Kcnh4	G	T	11: 100,647,906 (GRCm39)	H152Q	probably benign	Het
Kcnk12	A	T	17: 88,053,493 (GRCm39)	S390T	possibly damaging	Het
Klra9	T	G	6: 130,168,183 (GRCm39)	T28P	probably benign	Het
Lef1	T	A	3: 130,988,414 (GRCm39)	I327N	probably damaging	Het
Lin54	A	G	5: 100,633,129 (GRCm39)	V185A	possibly damaging	Het
Lrrc37	T	C	11: 103,506,274 (GRCm39)	E1898G	probably benign	Het
Lrrc4b	A	T	7: 44,111,975 (GRCm39)	I616F	probably damaging	Het
Mad2l1bp	A	G	17: 46,463,770 (GRCm39)	Y85H	possibly damaging	Het
Mars1	T	C	10: 127,147,479 (GRCm39)	E7G	probably benign	Het
Mpnd	G	A	17: 56,318,666 (GRCm39)	R225H	probably benign	Het
Muc4	T	A	16: 32,555,016 (GRCm39)	M1K	probably null	Het
Nckap5	A	G	1: 125,953,948 (GRCm39)	L868S	possibly damaging	Het
Ndst1	G	A	18: 60,830,256 (GRCm39)	T618M	probably damaging	Het
Npas1	A	T	7: 16,194,899 (GRCm39)		probably null	Het
Nr2f2	A	T	7: 70,004,499 (GRCm39)	V384D	probably damaging	Het
Or10a3b	A	G	7: 108,444,528 (GRCm39)	S230P	probably benign	Het
Or1e19	A	G	11: 73,316,596 (GRCm39)	L71P	probably damaging	Het
Or4p8	T	A	2: 88,727,705 (GRCm39)	I79F	probably damaging	Het
Paip1	T	A	13: 119,582,337 (GRCm39)	F188I	probably damaging	Het
Pcdha4	A	T	18: 37,086,776 (GRCm39)	I320L	probably benign	Het
Peg10	TCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATC	T	6: 4,756,427 (GRCm39)		probably null	Het
Pgpep1	C	T	8: 71,103,168 (GRCm39)	G110R	unknown	Het
Pidd1	T	A	7: 141,020,252 (GRCm39)	H558L	possibly damaging	Het
Ppp1r1a	C	T	15: 103,439,776 (GRCm39)		probably null	Het
Pramel18	T	C	4: 101,768,599 (GRCm39)	S317P	possibly damaging	Het
Prkcg	A	G	7: 3,359,081 (GRCm39)	D96G	probably benign	Het
Prpf40b	A	G	15: 99,203,899 (GRCm39)	N154S	probably benign	Het
Psg17	A	G	7: 18,553,897 (GRCm39)	Y118H	probably benign	Het
Ptpn12	A	G	5: 21,214,509 (GRCm39)	I209T	probably damaging	Het
Reln	T	A	5: 22,181,276 (GRCm39)	K1835*	probably null	Het
Sf3b3	T	C	8: 111,564,915 (GRCm39)	M298V	probably benign	Het
Slc5a3	T	A	16: 91,874,682 (GRCm39)	N246K	probably benign	Het
Slmap	T	A	14: 26,151,001 (GRCm39)	E522D	probably damaging	Het
Slmap	C	T	14: 26,151,003 (GRCm39)	E522K	probably damaging	Het
Tcp10c	T	A	17: 13,581,260 (GRCm39)	L230Q	probably damaging	Het
Tdo2	A	G	3: 81,878,942 (GRCm39)		probably null	Het
Tet3	A	T	6: 83,381,623 (GRCm39)	W182R	probably damaging	Het
Tmem151a	T	A	19: 5,121,895 (GRCm39)	M35L	unknown	Het
Tom1l2	TTGATGATG	TTGATG	11: 60,171,040 (GRCm39)		probably benign	Het
Trak2	A	T	1: 58,960,227 (GRCm39)		probably null	Het
Trappc11	T	A	8: 47,975,449 (GRCm39)	E256D	possibly damaging	Het
Trim62	C	T	4: 128,796,346 (GRCm39)	T281I	probably benign	Het
Trip13	T	C	13: 74,081,021 (GRCm39)	E115G	probably benign	Het
Trp63	A	G	16: 25,620,837 (GRCm39)	T10A	probably benign	Het
Urah	A	T	7: 140,415,565 (GRCm39)	H11L	probably damaging	Het
Usp39	G	A	6: 72,319,891 (GRCm39)	T109I	probably damaging	Het
Wfikkn2	T	C	11: 94,128,738 (GRCm39)	T468A	probably benign	Het
Zfhx4	T	G	3: 5,477,875 (GRCm39)	S3497A	probably damaging	Het
Zfp85	C	T	13: 67,897,184 (GRCm39)	R296H	probably benign	Het

Other mutations in Pramel51

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Pramel51	APN	12	88,143,882 (GRCm39)	missense	probably benign	0.35
IGL01391:Pramel51	APN	12	88,145,225 (GRCm39)	missense	possibly damaging	0.84
IGL01432:Pramel51	APN	12	88,143,202 (GRCm39)	missense	probably benign	0.44
IGL01519:Pramel51	APN	12	88,144,331 (GRCm39)	missense	probably benign	0.00
IGL01784:Pramel51	APN	12	88,143,085 (GRCm39)	missense	probably benign
IGL02121:Pramel51	APN	12	88,145,242 (GRCm39)	missense	possibly damaging	0.83
IGL02728:Pramel51	APN	12	88,142,792 (GRCm39)	missense	probably benign	0.17
R0336:Pramel51	UTSW	12	88,144,961 (GRCm39)	missense	probably benign	0.20
R0554:Pramel51	UTSW	12	88,144,328 (GRCm39)	missense	probably benign	0.10
R1279:Pramel51	UTSW	12	88,142,650 (GRCm39)	missense	probably benign	0.42
R1832:Pramel51	UTSW	12	88,145,218 (GRCm39)	missense	possibly damaging	0.73
R1833:Pramel51	UTSW	12	88,145,218 (GRCm39)	missense	possibly damaging	0.73
R1900:Pramel51	UTSW	12	88,144,030 (GRCm39)	missense	probably benign	0.02
R2412:Pramel51	UTSW	12	88,143,880 (GRCm39)	missense	probably damaging	0.98
R3040:Pramel51	UTSW	12	88,145,118 (GRCm39)	missense	probably benign	0.00
R3625:Pramel51	UTSW	12	88,142,731 (GRCm39)	missense	probably benign	0.06
R4078:Pramel51	UTSW	12	88,142,683 (GRCm39)	missense	probably benign	0.38
R4270:Pramel51	UTSW	12	88,145,053 (GRCm39)	missense	probably damaging	1.00
R4271:Pramel51	UTSW	12	88,145,053 (GRCm39)	missense	probably damaging	1.00
R5318:Pramel51	UTSW	12	88,142,998 (GRCm39)	missense	probably benign	0.01
R5552:Pramel51	UTSW	12	88,145,135 (GRCm39)	missense	probably benign	0.03
R5601:Pramel51	UTSW	12	88,142,817 (GRCm39)	missense	probably damaging	1.00
R5881:Pramel51	UTSW	12	88,143,111 (GRCm39)	missense	probably damaging	1.00
R5973:Pramel51	UTSW	12	88,142,683 (GRCm39)	missense	probably benign	0.02
R6058:Pramel51	UTSW	12	88,143,995 (GRCm39)	missense	possibly damaging	0.91
R6488:Pramel51	UTSW	12	88,144,357 (GRCm39)	missense	possibly damaging	0.87
R6656:Pramel51	UTSW	12	88,142,763 (GRCm39)	missense	possibly damaging	0.89
R7307:Pramel51	UTSW	12	88,148,519 (GRCm39)	missense	probably damaging	1.00
R7332:Pramel51	UTSW	12	88,143,187 (GRCm39)	missense	possibly damaging	0.72
R7569:Pramel51	UTSW	12	88,143,085 (GRCm39)	missense	probably benign
R7645:Pramel51	UTSW	12	88,143,028 (GRCm39)	missense	probably damaging	1.00
R7752:Pramel51	UTSW	12	88,142,769 (GRCm39)	missense	probably damaging	1.00
R7855:Pramel51	UTSW	12	88,142,853 (GRCm39)	missense	probably benign	0.03
R7860:Pramel51	UTSW	12	88,143,122 (GRCm39)	missense	possibly damaging	0.89
R8113:Pramel51	UTSW	12	88,143,850 (GRCm39)	missense	probably benign	0.00
R8356:Pramel51	UTSW	12	88,143,986 (GRCm39)	missense	probably benign	0.01
R8456:Pramel51	UTSW	12	88,143,986 (GRCm39)	missense	probably benign	0.01
R8921:Pramel51	UTSW	12	88,143,952 (GRCm39)	missense	probably benign	0.10
R8953:Pramel51	UTSW	12	88,144,070 (GRCm39)	missense	probably benign	0.17
R9112:Pramel51	UTSW	12	88,144,055 (GRCm39)	missense	possibly damaging	0.64
R9546:Pramel51	UTSW	12	88,148,651 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CACAAAACGGCAACATTGGG -3'
(R):5'- CCTTGAGAGAGTTGGAGATACC -3'

Sequencing Primer
(F):5'- GCAACATTGGGTATGCCGATC -3'
(R):5'- GTTGGAGATACCCTGAAAACCCTG -3'

Posted On

2019-10-17