Mutagenetix > Incidental Mutation

Incidental Mutation 'R8003:Pramel17'

616444

Institutional Source

Beutler Lab

Gene Symbol

Pramel17

Ensembl Gene

ENSMUSG00000035201

Gene Name

PRAME like 17

Synonyms

B020004J07Rik

MMRRC Submission

046043-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8003 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101692166-101701219 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101693130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 290 (K290R)

Ref Sequence

ENSEMBL: ENSMUSP00000081421 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084386] [ENSMUST00000106919]

AlphaFold

Q3UTC0

Predicted Effect

probably benign
Transcript: ENSMUST00000084386
AA Change: K290R

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000081421
Gene: ENSMUSG00000035201
AA Change: K290R

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	219	405	2e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106919
AA Change: K290R

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102532
Gene: ENSMUSG00000035201
AA Change: K290R

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	219	405	2e-10	SMART

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	A	G	14: 56,019,092 (GRCm39)	V155A	probably benign	Het
Arfgef2	A	G	2: 166,695,208 (GRCm39)	Y527C	probably damaging	Het
Brca1	C	T	11: 101,415,303 (GRCm39)	G944R	probably benign	Het
C2cd2	A	G	16: 97,687,286 (GRCm39)		probably null	Het
Cass4	T	C	2: 172,269,879 (GRCm39)	F654L	unknown	Het
Ccdc178	A	T	18: 21,977,944 (GRCm39)		probably null	Het
Cct4	T	C	11: 22,946,040 (GRCm39)		probably null	Het
Cish	T	C	9: 107,174,227 (GRCm39)	V5A	possibly damaging	Het
Col5a1	G	A	2: 27,848,340 (GRCm39)		probably benign	Het
Col6a3	G	T	1: 90,703,455 (GRCm39)	N3037K	unknown	Het
Csmd2	T	A	4: 128,432,980 (GRCm39)	C3012*	probably null	Het
Dclk2	T	C	3: 86,700,608 (GRCm39)		probably null	Het
Dhx38	A	T	8: 110,282,772 (GRCm39)	D631E	probably damaging	Het
Eif2ak2	C	A	17: 79,183,652 (GRCm39)	A66S	probably damaging	Het
Ephx2	A	G	14: 66,361,782 (GRCm39)		probably null	Het
Fbxw10	T	G	11: 62,748,587 (GRCm39)	C405G	possibly damaging	Het
Galnt13	G	T	2: 54,950,497 (GRCm39)	G393*	probably null	Het
Gm5591	G	T	7: 38,219,183 (GRCm39)	H563Q	probably damaging	Het
Gtf3c5	A	G	2: 28,459,373 (GRCm39)	I394T	probably benign	Het
Hectd4	G	A	5: 121,477,581 (GRCm39)	A2835T	possibly damaging	Het
Herc2	A	G	7: 55,818,652 (GRCm39)	D2781G	possibly damaging	Het
Kmt2b	G	T	7: 30,268,802 (GRCm39)	H2642Q	probably damaging	Het
Lars1	A	T	18: 42,354,684 (GRCm39)	D754E	probably damaging	Het
Lrpprc	A	C	17: 85,059,745 (GRCm39)	S690A	probably benign	Het
Map3k6	A	G	4: 132,976,193 (GRCm39)	T805A	probably benign	Het
Mthfd1l	T	G	10: 3,934,147 (GRCm39)	S160A	probably benign	Het
Mtmr6	G	A	14: 60,519,544 (GRCm39)		probably null	Het
Mybpc2	A	T	7: 44,158,488 (GRCm39)	M698K	probably damaging	Het
Myh8	T	A	11: 67,190,586 (GRCm39)	L1304M	probably damaging	Het
Mylip	T	A	13: 45,557,947 (GRCm39)	V117E	probably benign	Het
Npc1l1	T	C	11: 6,165,129 (GRCm39)	Q1061R	probably benign	Het
Or12e13	A	G	2: 87,664,081 (GRCm39)	R233G	probably benign	Het
Or5d37	A	T	2: 87,923,589 (GRCm39)	Y230*	probably null	Het
Pkd2l2	G	A	18: 34,561,232 (GRCm39)	M413I	probably damaging	Het
Plch2	C	T	4: 155,138,980 (GRCm39)	G19D	unknown	Het
Psg22	A	C	7: 18,458,350 (GRCm39)	Y347S	probably damaging	Het
Ptpre	C	A	7: 135,270,765 (GRCm39)	Q314K	probably damaging	Het
Rgs6	T	C	12: 83,032,144 (GRCm39)	S54P	probably damaging	Het
Sbds	C	A	5: 130,279,726 (GRCm39)	V130F	possibly damaging	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Slc24a2	A	T	4: 87,094,552 (GRCm39)	D322E	probably benign	Het
Slc45a4	G	T	15: 73,457,162 (GRCm39)	Y585*	probably null	Het
Slc7a4	A	C	16: 17,392,315 (GRCm39)	V373G	possibly damaging	Het
Sulf1	G	A	1: 12,908,825 (GRCm39)	V613M	probably damaging	Het
Syt1	T	C	10: 108,472,434 (GRCm39)	D150G	probably damaging	Het
Tnpo3	C	A	6: 29,551,900 (GRCm39)	V888F	probably benign	Het
Trim9	T	C	12: 70,393,608 (GRCm39)	H112R	probably benign	Het
Vmn2r80	T	C	10: 78,984,711 (GRCm39)	I21T	probably benign	Het
Wdr41	C	A	13: 95,149,654 (GRCm39)	A286E	possibly damaging	Het
Wnt8b	T	A	19: 44,500,396 (GRCm39)	C328S	probably damaging	Het
Ybx3	A	T	6: 131,345,400 (GRCm39)	Y324*	probably null	Het
Zmynd15	T	A	11: 70,351,767 (GRCm39)	H124Q	probably benign	Het

Other mutations in Pramel17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01083:Pramel17	APN	4	101,692,729 (GRCm39)	missense	probably benign
IGL01615:Pramel17	APN	4	101,694,201 (GRCm39)	missense	possibly damaging	0.63
IGL01765:Pramel17	APN	4	101,695,049 (GRCm39)	missense	probably benign	0.03
IGL02228:Pramel17	APN	4	101,694,055 (GRCm39)	missense	probably benign	0.03
IGL02276:Pramel17	APN	4	101,695,306 (GRCm39)	missense	possibly damaging	0.89
IGL02548:Pramel17	APN	4	101,692,770 (GRCm39)	missense	probably damaging	0.99
IGL03226:Pramel17	APN	4	101,692,594 (GRCm39)	missense	probably benign	0.00
R0124:Pramel17	UTSW	4	101,692,570 (GRCm39)	makesense	probably null
R0449:Pramel17	UTSW	4	101,694,158 (GRCm39)	missense	probably benign	0.01
R0573:Pramel17	UTSW	4	101,692,611 (GRCm39)	missense	probably damaging	0.96
R1159:Pramel17	UTSW	4	101,695,224 (GRCm39)	missense	possibly damaging	0.54
R1689:Pramel17	UTSW	4	101,694,376 (GRCm39)	missense	possibly damaging	0.63
R1857:Pramel17	UTSW	4	101,692,770 (GRCm39)	missense	probably damaging	1.00
R1861:Pramel17	UTSW	4	101,694,135 (GRCm39)	missense	probably benign
R2570:Pramel17	UTSW	4	101,694,443 (GRCm39)	missense	probably benign	0.01
R3886:Pramel17	UTSW	4	101,692,920 (GRCm39)	missense	probably benign	0.09
R4922:Pramel17	UTSW	4	101,692,729 (GRCm39)	missense	probably benign
R4984:Pramel17	UTSW	4	101,692,796 (GRCm39)	missense	possibly damaging	0.63
R5503:Pramel17	UTSW	4	101,692,999 (GRCm39)	missense	probably benign	0.00
R6230:Pramel17	UTSW	4	101,694,411 (GRCm39)	missense	probably damaging	0.96
R6831:Pramel17	UTSW	4	101,694,094 (GRCm39)	missense	probably benign	0.26
R7172:Pramel17	UTSW	4	101,694,193 (GRCm39)	missense	probably benign	0.00
R7201:Pramel17	UTSW	4	101,695,338 (GRCm39)	critical splice acceptor site	probably null
R7220:Pramel17	UTSW	4	101,694,565 (GRCm39)	missense	probably benign	0.00
R7253:Pramel17	UTSW	4	101,692,725 (GRCm39)	missense	probably benign	0.31
R7545:Pramel17	UTSW	4	101,695,159 (GRCm39)	missense	probably benign	0.00
R7567:Pramel17	UTSW	4	101,694,331 (GRCm39)	missense	probably benign	0.00
R7763:Pramel17	UTSW	4	101,694,338 (GRCm39)	missense	possibly damaging	0.95
R8005:Pramel17	UTSW	4	101,694,448 (GRCm39)	missense	probably damaging	1.00
R8836:Pramel17	UTSW	4	101,693,022 (GRCm39)	missense	probably benign	0.00
R9125:Pramel17	UTSW	4	101,694,073 (GRCm39)	missense	probably benign	0.26
R9332:Pramel17	UTSW	4	101,695,144 (GRCm39)	missense	probably damaging	1.00
R9545:Pramel17	UTSW	4	101,693,097 (GRCm39)	missense	probably damaging	0.99
R9733:Pramel17	UTSW	4	101,692,965 (GRCm39)	missense	possibly damaging	0.74
R9775:Pramel17	UTSW	4	101,694,244 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TCATCCTGCAGTGCTCTAAC -3'
(R):5'- GTCTGAGCCAATCCTACCTG -3'

Sequencing Primer
(F):5'- CCAGGGTCTGTAGAGTTGCAGATAC -3'
(R):5'- GCCAATCCTACCTGATTGTAATATAC -3'

Posted On

2020-01-23