Mutagenetix > Incidental Mutation

Incidental Mutation 'R8226:Pramel20'

636978

Institutional Source

Beutler Lab

Gene Symbol

Pramel20

Ensembl Gene

ENSMUSG00000070618

Gene Name

PRAME like 20

Synonyms

BC080695

MMRRC Submission

067643-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R8226 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

143294045-143300368 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 143298530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 158 (Y158D)

Ref Sequence

ENSEMBL: ENSMUSP00000101391 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105765] [ENSMUST00000105774]

AlphaFold

Q66JY9

Predicted Effect

probably benign
Transcript: ENSMUST00000105765
AA Change: Y158D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101391
Gene: ENSMUSG00000070618
AA Change: Y158D

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	210	414	5e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105774
AA Change: Y158D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101400
Gene: ENSMUSG00000070618
AA Change: Y158D

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	210	414	5e-12	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.2%
20x: 97.7%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	G	10: 29,094,195 (GRCm39)	N27S	probably damaging	Het
Abcb1b	T	A	5: 8,871,390 (GRCm39)	Y315N	probably damaging	Het
Acy1	A	G	9: 106,314,857 (GRCm39)	I22T	probably damaging	Het
Akap11	G	A	14: 78,748,649 (GRCm39)	T1246M		Het
Akr1b1	G	C	6: 34,288,867 (GRCm39)	T114R	probably damaging	Het
Apob	G	A	12: 8,059,056 (GRCm39)	V2513I	probably benign	Het
Arhgap21	C	T	2: 20,876,556 (GRCm39)	D820N	probably damaging	Het
Arl2	A	T	19: 6,187,506 (GRCm39)		probably null	Het
Bmp5	C	T	9: 75,683,606 (GRCm39)	P78S	probably damaging	Het
Cic	T	C	7: 24,987,213 (GRCm39)	C1374R	probably damaging	Het
Dennd5b	T	C	6: 148,915,746 (GRCm39)		probably null	Het
Dhx36	A	G	3: 62,377,991 (GRCm39)	Y1000H	probably benign	Het
Dnah14	A	G	1: 181,623,110 (GRCm39)	E3996G	possibly damaging	Het
Efcab6	T	C	15: 83,788,456 (GRCm39)	Y946C	probably benign	Het
Egfem1	A	G	3: 29,711,404 (GRCm39)	K328E	probably damaging	Het
F5	T	C	1: 164,021,959 (GRCm39)	V1478A	probably benign	Het
Fchsd2	C	T	7: 100,931,679 (GRCm39)	P745L	probably damaging	Het
Grb10	G	T	11: 11,901,533 (GRCm39)	L214M	probably damaging	Het
H6pd	A	G	4: 150,080,446 (GRCm39)	V133A	probably benign	Het
Irak4	T	A	15: 94,456,244 (GRCm39)	L277Q	probably damaging	Het
Krt78	A	T	15: 101,855,480 (GRCm39)	M777K	possibly damaging	Het
Lrch4	A	G	5: 137,637,997 (GRCm39)	H93R		Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Mga	A	G	2: 119,790,866 (GRCm39)	I2251V	probably benign	Het
Mtx3	A	G	13: 92,984,215 (GRCm39)	E164G	possibly damaging	Het
Muc21	T	C	17: 35,930,599 (GRCm39)		probably benign	Het
Nbeal1	A	T	1: 60,316,336 (GRCm39)	K1846N	probably damaging	Het
Nedd1	T	A	10: 92,527,797 (GRCm39)	M466L	probably benign	Het
Nr4a3	A	T	4: 48,056,588 (GRCm39)	K380M	probably damaging	Het
Nup107	T	C	10: 117,593,836 (GRCm39)	K786E	probably benign	Het
Or51f23b	T	C	7: 102,402,950 (GRCm39)	Y62C	probably benign	Het
Or5ak25	T	A	2: 85,268,981 (GRCm39)	I174F	probably damaging	Het
Or5m12	T	C	2: 85,734,547 (GRCm39)	I284V	probably benign	Het
Or5v1	A	T	17: 37,809,560 (GRCm39)	Q6L	probably benign	Het
Pira13	A	C	7: 3,828,109 (GRCm39)	L66R		Het
Pkhd1l1	A	G	15: 44,437,803 (GRCm39)	N3533D	possibly damaging	Het
Plpp1	A	T	13: 113,003,465 (GRCm39)	T230S	probably benign	Het
Plxnc1	A	C	10: 94,669,230 (GRCm39)	D1063E	possibly damaging	Het
Prokr2	C	A	2: 132,215,961 (GRCm39)	A167S	probably damaging	Het
Qser1	C	T	2: 104,619,070 (GRCm39)	A491T	probably benign	Het
Rc3h2	T	A	2: 37,267,001 (GRCm39)	Y1040F	possibly damaging	Het
Rgl2	C	T	17: 34,151,501 (GRCm39)	L182F	possibly damaging	Het
Rnf130	T	C	11: 49,962,097 (GRCm39)	V181A	probably benign	Het
Scd4	A	G	19: 44,322,572 (GRCm39)	D55G	probably benign	Het
Scn7a	T	G	2: 66,531,204 (GRCm39)	I558L	possibly damaging	Het
Serpinb7	G	A	1: 107,375,980 (GRCm39)		probably null	Het
Shtn1	T	C	19: 58,992,328 (GRCm39)	I417V	possibly damaging	Het
Svs3b	T	A	2: 164,098,140 (GRCm39)	E60D	possibly damaging	Het
Tex14	T	C	11: 87,375,585 (GRCm39)	I116T	probably damaging	Het
Trak1	C	T	9: 121,280,793 (GRCm39)	T394I	probably benign	Het
Trhde	C	T	10: 114,403,133 (GRCm39)	V497M	probably damaging	Het
Trpc2	A	G	7: 101,737,482 (GRCm39)	M425V	possibly damaging	Het
Trpm2	C	T	10: 77,783,807 (GRCm39)	R222Q	probably damaging	Het
Tuba1b	C	T	15: 98,829,591 (GRCm39)	G410S	probably benign	Het
Usp28	T	G	9: 48,926,697 (GRCm39)		probably null	Het
Vps13d	T	C	4: 144,875,860 (GRCm39)	Y1555C		Het
Wdr17	T	A	8: 55,146,155 (GRCm39)	N106Y	possibly damaging	Het

Other mutations in Pramel20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02118:Pramel20	APN	4	143,297,726 (GRCm39)	missense	probably benign	0.42
IGL02533:Pramel20	APN	4	143,297,572 (GRCm39)	utr 5 prime	probably benign
R0352:Pramel20	UTSW	4	143,297,878 (GRCm39)	splice site	probably benign
R1600:Pramel20	UTSW	4	143,298,537 (GRCm39)	missense	possibly damaging	0.78
R3121:Pramel20	UTSW	4	143,297,583 (GRCm39)	start codon destroyed	probably null	1.00
R4005:Pramel20	UTSW	4	143,298,839 (GRCm39)	missense	probably benign	0.00
R4477:Pramel20	UTSW	4	143,297,732 (GRCm39)	missense	probably benign	0.21
R4639:Pramel20	UTSW	4	143,298,467 (GRCm39)	missense	probably benign	0.22
R4791:Pramel20	UTSW	4	143,297,559 (GRCm39)	start gained	probably benign
R5118:Pramel20	UTSW	4	143,297,697 (GRCm39)	missense	probably damaging	1.00
R5353:Pramel20	UTSW	4	143,297,807 (GRCm39)	missense	probably benign	0.00
R5861:Pramel20	UTSW	4	143,297,810 (GRCm39)	missense	probably benign
R6163:Pramel20	UTSW	4	143,298,605 (GRCm39)	missense	probably damaging	1.00
R6286:Pramel20	UTSW	4	143,297,796 (GRCm39)	missense	probably benign
R6958:Pramel20	UTSW	4	143,297,829 (GRCm39)	missense	probably damaging	1.00
R7391:Pramel20	UTSW	4	143,298,876 (GRCm39)	missense	probably damaging	1.00
R7625:Pramel20	UTSW	4	143,298,821 (GRCm39)	missense	probably benign	0.00
R8189:Pramel20	UTSW	4	143,298,530 (GRCm39)	missense	probably benign
R8190:Pramel20	UTSW	4	143,298,530 (GRCm39)	missense	probably benign
R8192:Pramel20	UTSW	4	143,298,530 (GRCm39)	missense	probably benign
R8219:Pramel20	UTSW	4	143,298,530 (GRCm39)	missense	probably benign
R8221:Pramel20	UTSW	4	143,298,530 (GRCm39)	missense	probably benign
R8223:Pramel20	UTSW	4	143,298,530 (GRCm39)	missense	probably benign
R9005:Pramel20	UTSW	4	143,298,425 (GRCm39)	missense	probably benign	0.11
R9150:Pramel20	UTSW	4	143,298,531 (GRCm39)	missense	probably benign
R9295:Pramel20	UTSW	4	143,298,704 (GRCm39)	missense	possibly damaging	0.51
R9307:Pramel20	UTSW	4	143,299,314 (GRCm39)	missense	probably damaging	1.00
R9691:Pramel20	UTSW	4	143,299,328 (GRCm39)	missense	probably benign	0.09
Z1176:Pramel20	UTSW	4	143,298,822 (GRCm39)	missense	probably benign	0.00

Predicted Primers

Posted On

2020-07-13