Mutagenetix > Incidental Mutation

Incidental Mutation 'R2366:Pramel39-ps'

246328

Institutional Source

Beutler Lab

Gene Symbol

Pramel39-ps

Ensembl Gene

ENSMUSG00000094560

Gene Name

PRAME like 39, pseudogene

Synonyms

A430089I19Rik, Gm16522, Pramel39

MMRRC Submission

040347-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R2366 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

94450378-94454655 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94450972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 385 (K385E)

Ref Sequence

ENSEMBL: ENSMUSP00000095087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097479]

AlphaFold

Q8C9W1

Predicted Effect

probably benign
Transcript: ENSMUST00000097479
AA Change: K385E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000095087
Gene: ENSMUSG00000094560
AA Change: K385E

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	210	401	1e-13	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630091E08Rik	G	A	7: 98,192,949 (GRCm39)		noncoding transcript	Het
Adamts5	C	T	16: 85,659,646 (GRCm39)	G882D	probably damaging	Het
Arl6ip6	T	C	2: 53,082,379 (GRCm39)	V82A	probably benign	Het
Brd10	A	T	19: 29,731,035 (GRCm39)	I726N	probably damaging	Het
Cd38	T	G	5: 44,060,932 (GRCm39)		probably benign	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Col6a6	C	A	9: 105,632,893 (GRCm39)	G1457V	probably damaging	Het
Cyp2c69	T	C	19: 39,866,038 (GRCm39)	N185S	probably benign	Het
Cyp2d12	T	A	15: 82,439,355 (GRCm39)	L3Q	probably damaging	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Drc1	A	G	5: 30,523,894 (GRCm39)	*754W	probably null	Het
Erbin	G	A	13: 103,981,417 (GRCm39)	H503Y	probably damaging	Het
F3	G	A	3: 121,526,194 (GRCm39)		probably null	Het
Gm10033	A	T	8: 69,826,232 (GRCm39)	M112K	unknown	Het
Gps1	A	C	11: 120,678,945 (GRCm39)	I404L	probably damaging	Het
Hc	T	C	2: 34,903,648 (GRCm39)	N1002S	probably benign	Het
Impg2	T	C	16: 56,080,236 (GRCm39)	I571T	probably benign	Het
Knop1	C	A	7: 118,451,751 (GRCm39)	V323F	possibly damaging	Het
Kntc1	C	T	5: 123,919,255 (GRCm39)	L845F	probably damaging	Het
Lsm5	T	C	6: 56,680,003 (GRCm39)	D53G	probably damaging	Het
Lzts1	T	C	8: 69,593,257 (GRCm39)		probably null	Het
Matr3	A	T	18: 35,721,448 (GRCm39)	N473I	probably damaging	Het
Med1	A	G	11: 98,052,008 (GRCm39)	V452A	probably damaging	Het
Napsa	T	A	7: 44,231,909 (GRCm39)	D44E	probably damaging	Het
Nbeal1	T	C	1: 60,290,511 (GRCm39)	F1036S	probably damaging	Het
Ncapg2	G	A	12: 116,384,349 (GRCm39)	W270*	probably null	Het
Nherf1	G	A	11: 115,054,454 (GRCm39)	V35M	probably benign	Het
Or5af1	C	A	11: 58,722,039 (GRCm39)	Q20K	probably benign	Het
Pik3ca	G	A	3: 32,516,943 (GRCm39)	W1057*	probably null	Het
Pkd1l2	A	T	8: 117,770,056 (GRCm39)	D1133E	probably benign	Het
Prox1	T	A	1: 189,894,079 (GRCm39)	E122V	probably damaging	Het
Rest	C	A	5: 77,416,034 (GRCm39)	H83N	probably benign	Het
Rundc3a	A	G	11: 102,288,491 (GRCm39)	I68V	probably damaging	Het
Stx6	A	T	1: 155,077,706 (GRCm39)	I238L	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubqln3	C	A	7: 103,790,256 (GRCm39)	Q611H	probably damaging	Het
Usp6nl	T	A	2: 6,445,770 (GRCm39)	H559Q	probably benign	Het
Vipr1	T	G	9: 121,494,250 (GRCm39)	V277G	probably benign	Het
Zfp101	A	T	17: 33,599,972 (GRCm39)	C595S	probably benign	Het
Zfp398	C	T	6: 47,840,143 (GRCm39)	T124I	possibly damaging	Het

Other mutations in Pramel39-ps

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R7218:Pramel39-ps	UTSW	5	94,451,113 (GRCm39)	missense	probably benign
R7651:Pramel39-ps	UTSW	5	94,451,236 (GRCm39)	missense	probably benign	0.13
R9141:Pramel39-ps	UTSW	5	94,451,001 (GRCm39)	missense	probably damaging	1.00
R9216:Pramel39-ps	UTSW	5	94,450,952 (GRCm39)	missense	possibly damaging	0.94
R9237:Pramel39-ps	UTSW	5	94,451,001 (GRCm39)	missense	probably damaging	1.00
R9238:Pramel39-ps	UTSW	5	94,451,001 (GRCm39)	missense	probably damaging	1.00
R9242:Pramel39-ps	UTSW	5	94,451,001 (GRCm39)	missense	probably damaging	1.00
R9360:Pramel39-ps	UTSW	5	94,451,001 (GRCm39)	missense	probably damaging	1.00
R9361:Pramel39-ps	UTSW	5	94,451,001 (GRCm39)	missense	probably damaging	1.00
R9362:Pramel39-ps	UTSW	5	94,451,001 (GRCm39)	missense	probably damaging	1.00
R9363:Pramel39-ps	UTSW	5	94,451,001 (GRCm39)	missense	probably damaging	1.00
R9391:Pramel39-ps	UTSW	5	94,451,001 (GRCm39)	missense	probably damaging	1.00
R9418:Pramel39-ps	UTSW	5	94,451,001 (GRCm39)	missense	probably damaging	1.00
R9419:Pramel39-ps	UTSW	5	94,451,001 (GRCm39)	missense	probably damaging	1.00
R9420:Pramel39-ps	UTSW	5	94,451,001 (GRCm39)	missense	probably damaging	1.00
R9421:Pramel39-ps	UTSW	5	94,451,001 (GRCm39)	missense	probably damaging	1.00
R9426:Pramel39-ps	UTSW	5	94,451,001 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTGCCTTATTGCCCTTAG -3'
(R):5'- CACAGTCAGACTTGGATTCCTTC -3'

Sequencing Primer
(F):5'- AGTGTATCCATGAGTTCCTGAC -3'
(R):5'- GAGTCTCTTTCAGCTAAAACATCTGG -3'

Posted On

2014-10-30