Mutagenetix > Incidental Mutation

Incidental Mutation 'R6058:Pramel51'

483071

Institutional Source

Beutler Lab

Gene Symbol

Pramel51

Ensembl Gene

ENSMUSG00000066027

Gene Name

PRAME like 51

Synonyms

Gm10436

MMRRC Submission

044224-MU

Accession Numbers

Essential gene?

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

Stock #

R6058 (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 88143995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 273 (I273F)

Ref Sequence

ENSEMBL: ENSMUSP00000152194 (fasta)

Gene Model

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

AlphaFold

L7N1Y3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071580
AA Change: I281F

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000071508
Gene: ENSMUSG00000066027
AA Change: I281F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220521
AA Change: I86F

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000221884

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222081
AA Change: I273F

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000222391

Predicted Effect

probably benign
Transcript: ENSMUST00000222556

Predicted Effect

probably benign
Transcript: ENSMUST00000223172

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Adamts20	G	A	15: 94,227,928 (GRCm39)	R1040*	probably null	Het
Akt1	A	G	12: 112,628,634 (GRCm39)	L52P	probably damaging	Het
Alk	T	A	17: 72,176,742 (GRCm39)	T1521S	probably benign	Het
Armt1	A	G	10: 4,403,488 (GRCm39)	N191S	probably damaging	Het
Ascl1	T	G	10: 87,328,562 (GRCm39)	N130T	probably damaging	Het
Bahcc1	T	G	11: 120,178,211 (GRCm39)	S2257A	probably damaging	Het
Cd86	T	C	16: 36,449,377 (GRCm39)	M7V	possibly damaging	Het
Cep57	A	T	9: 13,722,057 (GRCm39)	S304R	possibly damaging	Het
Cep57l1	A	T	10: 41,616,918 (GRCm39)	I123N	possibly damaging	Het
Cers6	A	G	2: 68,692,008 (GRCm39)	N10S	probably benign	Het
Chrng	A	G	1: 87,139,074 (GRCm39)	D475G	probably damaging	Het
Crabp1	T	A	9: 54,680,129 (GRCm39)	V128E	probably damaging	Het
Csnk2a1-ps3	T	C	1: 156,352,425 (GRCm39)	Y209H	probably damaging	Het
Dcdc2a	T	C	13: 25,240,354 (GRCm39)	V34A	possibly damaging	Het
Eeig1	G	A	2: 32,450,102 (GRCm39)	V117I	probably benign	Het
Fbn1	A	G	2: 125,308,532 (GRCm39)	C177R	possibly damaging	Het
Fras1	A	G	5: 96,857,844 (GRCm39)	D2046G	probably benign	Het
Glul	T	C	1: 153,783,087 (GRCm39)	I220T	probably benign	Het
Gpc6	C	T	14: 118,202,182 (GRCm39)	T464M	probably damaging	Het
Gpm6a	T	C	8: 55,511,833 (GRCm39)	S236P	probably damaging	Het
H2-K2	G	T	17: 34,218,304 (GRCm39)	T204K	probably benign	Het
H2-K2	T	C	17: 34,218,305 (GRCm39)	T204A	probably benign	Het
Hecw2	T	C	1: 53,963,135 (GRCm39)	H792R	possibly damaging	Het
Herc4	T	A	10: 63,110,821 (GRCm39)	I244K	possibly damaging	Het
Hsd11b2	G	T	8: 106,249,966 (GRCm39)	R359L	possibly damaging	Het
Igsf9	G	A	1: 172,312,456 (GRCm39)	E56K	probably damaging	Het
Il9	T	C	13: 56,628,495 (GRCm39)	T65A	possibly damaging	Het
Kcnip1	T	C	11: 33,592,478 (GRCm39)	T102A	probably damaging	Het
L3mbtl2	T	C	15: 81,551,555 (GRCm39)	S74P	probably benign	Het
Lamc2	C	T	1: 153,012,575 (GRCm39)	D700N	probably benign	Het
Ldb2	T	C	5: 44,633,905 (GRCm39)	T322A	possibly damaging	Het
Lix1	A	T	17: 17,664,012 (GRCm39)	I117F	probably damaging	Het
Map2	T	A	1: 66,454,573 (GRCm39)	D1154E	probably benign	Het
Marco	A	T	1: 120,404,435 (GRCm39)	I425N	probably damaging	Het
Mark4	T	C	7: 19,160,310 (GRCm39)	E650G	probably benign	Het
Mink1	A	G	11: 70,502,546 (GRCm39)	T1086A	possibly damaging	Het
Nxf1	G	A	19: 8,745,186 (GRCm39)	V479M	probably damaging	Het
Or10v1	T	A	19: 11,873,388 (GRCm39)	M1K	probably null	Het
Or11g2	T	C	14: 50,856,158 (GRCm39)	F160L	probably benign	Het
Or2n1e	A	G	17: 38,586,150 (GRCm39)	T163A	probably damaging	Het
Or5h23	T	C	16: 58,906,273 (GRCm39)	D191G	probably damaging	Het
Or5h23	A	G	16: 58,906,792 (GRCm39)	V18A	probably benign	Het
Or6c5	T	C	10: 129,074,329 (GRCm39)	S104P	probably damaging	Het
Otx2	T	C	14: 48,896,215 (GRCm39)	D281G	probably damaging	Het
Pcdhga3	A	T	18: 37,808,141 (GRCm39)	D198V	probably damaging	Het
Ppp1r13l	T	C	7: 19,104,500 (GRCm39)	V273A	probably benign	Het
Ppp6r2	T	C	15: 89,137,455 (GRCm39)		probably null	Het
Prg4	C	T	1: 150,327,197 (GRCm39)	G873D	probably damaging	Het
Ptprq	T	C	10: 107,471,135 (GRCm39)	N1422S	probably benign	Het
Rbm27	A	T	18: 42,460,570 (GRCm39)	K839M	probably damaging	Het
Rere	A	T	4: 150,553,255 (GRCm39)	N149I	probably damaging	Het
Ret	A	G	6: 118,156,280 (GRCm39)	L340S	probably benign	Het
Sel1l2	T	A	2: 140,082,889 (GRCm39)	D583V	possibly damaging	Het
Shroom1	A	T	11: 53,354,308 (GRCm39)	D76V	possibly damaging	Het
Slc5a3	C	A	16: 91,875,963 (GRCm39)	S673R	probably benign	Het
Spink1	A	T	18: 43,861,247 (GRCm39)	I74N	probably damaging	Het
Tbc1d1	T	A	5: 64,435,352 (GRCm39)	S497T	probably damaging	Het
Trim3	C	T	7: 105,260,278 (GRCm39)	R741Q	probably damaging	Het
Ttn	A	G	2: 76,747,022 (GRCm39)	C4676R	probably benign	Het
Ubqlnl	G	A	7: 103,797,959 (GRCm39)	P513S	probably benign	Het
Unc13d	C	T	11: 115,964,394 (GRCm39)		probably null	Het
Vmn1r125	TGG	TG	7: 21,006,144 (GRCm39)		probably null	Het
Vmn2r7	A	T	3: 64,632,436 (GRCm39)	C9S	probably benign	Het
Xdh	T	A	17: 74,213,264 (GRCm39)	M829L	probably damaging	Het
Zcrb1	A	G	15: 93,285,463 (GRCm39)	F173L	probably benign	Het
Zfp41	T	C	15: 75,490,372 (GRCm39)	V108A	probably damaging	Het
Zfp438	T	C	18: 5,213,209 (GRCm39)	E583G	probably damaging	Het
Zfp628	T	C	7: 4,923,917 (GRCm39)	L713P	probably damaging	Het
Zfp664	T	A	5: 124,963,042 (GRCm39)	C145*	probably null	Het
Zfp683	T	C	4: 133,786,042 (GRCm39)	C390R	probably damaging	Het
Zfp941	G	A	7: 140,392,010 (GRCm39)	P450S	probably damaging	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
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
R7544:Pramel51	UTSW	12	88,142,850 (GRCm39)	missense	probably benign	0.00
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'- GCCAGATTATCAAGGACTCCCTAG -3'
(R):5'- CATACTTGTTGCAGTGGGCC -3'

Sequencing Primer
(F):5'- AGAAAAGTGATGTGTTTTCTCTGGTC -3'
(R):5'- GGCCCAGCAGAGAAAAGATTCTATTC -3'

Posted On

2017-07-14