Mutagenetix > Incidental Mutation

Incidental Mutation 'R6585:Pramef20'

524325

Institutional Source

Beutler Lab

Gene Symbol

Pramef20

Ensembl Gene

ENSMUSG00000073721

Gene Name

PRAME family member 20

Synonyms

Gm13125, EG627009

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6585 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144372760-144377933 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 144377030 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 175 (L175F)

Ref Sequence

ENSEMBL: ENSMUSP00000112488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121109]

AlphaFold

B1ARV6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121109
AA Change: L175F

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112488
Gene: ENSMUSG00000073721
AA Change: L175F

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: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

97% (30/31)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	C	T	5: 109,737,668	C108Y	probably damaging	Het
AA792892	C	T	5: 94,381,556	P62S	probably benign	Het
Adam1b	G	T	5: 121,501,187	D598E	probably benign	Het
Agr2	G	A	12: 35,995,626	R37Q	probably benign	Het
Ascc3	A	G	10: 50,842,177	K1989E	probably benign	Het
Chd1l	A	G	3: 97,597,772	F160L	probably damaging	Het
Ciita	T	A	16: 10,511,745	V628E	probably benign	Het
Dis3l2	T	A	1: 86,745,494	I69N	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Elp2	T	C	18: 24,625,549	L503S	probably damaging	Het
Fcgbp	A	T	7: 28,113,979	Q2313L	possibly damaging	Het
Gm14851	A	G	8: 21,095,232	C65R	possibly damaging	Het
Gpr155	A	T	2: 73,349,645	I157N	probably damaging	Het
Hist2h2bb	A	T	3: 96,270,097	T116S	probably benign	Het
Kcnj1	T	C	9: 32,397,261	V307A	probably benign	Het
Lama3	G	A	18: 12,419,257		probably null	Het
Lrp6	A	T	6: 134,507,558	Y367*	probably null	Het
Ms4a14	T	A	19: 11,303,645	Q516H	unknown	Het
Nprl3	C	T	11: 32,234,812	R399Q	probably benign	Het
Olfr273	A	T	4: 52,856,192	M107K	possibly damaging	Het
Olfr290	A	T	7: 84,916,462	I228F	probably damaging	Het
Park7	G	T	4: 150,905,264	Q80K	probably benign	Het
Ptgs2	T	C	1: 150,103,987	V281A	possibly damaging	Het
Rprd1a	T	C	18: 24,506,663		probably null	Het
Speer4f2	A	G	5: 17,374,422	E73G	probably damaging	Het
Spta1	T	C	1: 174,178,685	W138R	probably damaging	Het
U2surp	T	C	9: 95,472,071	E838G	probably damaging	Het
Urb2	G	T	8: 124,031,125	E1190D	probably damaging	Het
Usp19	G	T	9: 108,499,727	L1165F	probably damaging	Het
Zfp27	G	A	7: 29,896,393	T49I	possibly damaging	Het

Other mutations in Pramef20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01403:Pramef20	APN	4	144377133	missense	probably benign	0.01
IGL01516:Pramef20	APN	4	144377767	missense	probably damaging	1.00
IGL02655:Pramef20	APN	4	144372846	missense	probably benign	0.05
IGL02983:Pramef20	APN	4	144373127	missense	probably benign	0.24
R0201:Pramef20	UTSW	4	144377273	splice site	probably benign
R1882:Pramef20	UTSW	4	144376915	missense	probably benign	0.03
R4440:Pramef20	UTSW	4	144372867	missense	probably benign
R4805:Pramef20	UTSW	4	144377020	missense	probably benign	0.08
R4823:Pramef20	UTSW	4	144373211	missense	possibly damaging	0.81
R4925:Pramef20	UTSW	4	144377932	start codon destroyed	probably null	1.00
R5024:Pramef20	UTSW	4	144373308	nonsense	probably null
R5472:Pramef20	UTSW	4	144377157	missense	probably benign	0.00
R6133:Pramef20	UTSW	4	144377777	missense	possibly damaging	0.81
R6495:Pramef20	UTSW	4	144376839	missense	probably benign	0.43
R6732:Pramef20	UTSW	4	144373173	missense	probably benign	0.20
R7048:Pramef20	UTSW	4	144377184	missense	probably benign	0.15
R7165:Pramef20	UTSW	4	144372819	missense	probably damaging	0.97
R7469:Pramef20	UTSW	4	144373103	missense	probably damaging	1.00
R8873:Pramef20	UTSW	4	144373301	missense	probably benign	0.43
R8891:Pramef20	UTSW	4	144372827	missense	probably damaging	0.99
R8909:Pramef20	UTSW	4	144376983	missense	probably benign	0.06
R9597:Pramef20	UTSW	4	144376956	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAGAGAGCAAGTTTACGC -3'
(R):5'- GATTTACGGTCTGTGGGACAAAAC -3'

Sequencing Primer
(F):5'- CAAGTTCCTCATTTGGCGCAAG -3'
(R):5'- AAAACTATTTGAATGTGTGGCCTGG -3'

Posted On

2018-06-22