Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02087:Pramel23'

279285

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramel23

Ensembl Gene

ENSMUSG00000070617

Gene Name

PRAME like 23

Synonyms

Gm13089

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL02087

Quality Score

Status

Chromosome

Chromosomal Location

143423070-143429281 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143423644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 382 (Y382N)

Ref Sequence

ENSEMBL: ENSMUSP00000073224 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073532]

AlphaFold

A2AGW7

Predicted Effect

probably damaging
Transcript: ENSMUST00000073532
AA Change: Y382N

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000073224
Gene: ENSMUSG00000070617
AA Change: Y382N

Domain	Start	End	E-Value	Type
low complexity region	204	216	N/A	INTRINSIC
low complexity region	331	343	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asl	C	T	5: 130,040,442 (GRCm39)	W450*	probably null	Het
Copg1	T	C	6: 87,879,192 (GRCm39)	Y413H	possibly damaging	Het
Ctsll3	G	T	13: 60,947,423 (GRCm39)	H254Q	possibly damaging	Het
Ebf2	A	G	14: 67,665,545 (GRCm39)	T568A	probably benign	Het
Etnppl	C	A	3: 130,420,194 (GRCm39)	S8R	probably benign	Het
Fry	C	A	5: 150,327,059 (GRCm39)	N1248K	probably benign	Het
Gpr55	A	C	1: 85,868,969 (GRCm39)	I204S	probably damaging	Het
Hyal5	T	A	6: 24,876,724 (GRCm39)	M199K	probably damaging	Het
Ighg2c	T	C	12: 113,248,986 (GRCm39)		probably benign	Het
Itga4	A	G	2: 79,122,413 (GRCm39)	D542G	probably damaging	Het
Itgb2	T	G	10: 77,395,530 (GRCm39)	Y544D	possibly damaging	Het
Lamb2	A	G	9: 108,364,318 (GRCm39)	N1086D	possibly damaging	Het
Lhx2	C	T	2: 38,258,849 (GRCm39)		probably benign	Het
Nlrp4c	T	G	7: 6,095,582 (GRCm39)	L820R	probably damaging	Het
Or5p68	T	A	7: 107,946,173 (GRCm39)	H5L	probably benign	Het
Phf20l1	C	T	15: 66,500,840 (GRCm39)	S578F	probably damaging	Het
Ptpn3	A	T	4: 57,222,019 (GRCm39)	D557E	probably damaging	Het
Slc6a6	G	A	6: 91,712,160 (GRCm39)	V230I	probably benign	Het
Stap2	T	C	17: 56,312,473 (GRCm39)	H20R	probably damaging	Het
Sult1c2	T	C	17: 54,279,068 (GRCm39)	T83A	possibly damaging	Het
Tspyl2	A	T	X: 151,122,103 (GRCm39)	D501E	probably damaging	Het
Unc13b	A	G	4: 43,091,270 (GRCm39)	K32R	probably null	Het
Wnt3	G	A	11: 103,703,185 (GRCm39)	A223T	probably benign	Het
Zfpm2	A	T	15: 40,966,517 (GRCm39)	N869Y	probably damaging	Het
Zranb1	T	C	7: 132,575,146 (GRCm39)		probably benign	Het

Other mutations in Pramel23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01720:Pramel23	APN	4	143,423,410 (GRCm39)	utr 3 prime	probably benign
IGL02296:Pramel23	APN	4	143,425,051 (GRCm39)	nonsense	probably null
IGL02902:Pramel23	APN	4	143,424,913 (GRCm39)	missense	probably damaging	1.00
IGL02903:Pramel23	APN	4	143,425,736 (GRCm39)	missense	probably benign	0.04
IGL02962:Pramel23	APN	4	143,423,910 (GRCm39)	missense	probably benign	0.28
IGL03351:Pramel23	APN	4	143,423,658 (GRCm39)	missense	possibly damaging	0.80
R0122:Pramel23	UTSW	4	143,424,974 (GRCm39)	missense	probably benign	0.44
R0533:Pramel23	UTSW	4	143,424,590 (GRCm39)	nonsense	probably null
R0609:Pramel23	UTSW	4	143,425,073 (GRCm39)	missense	probably benign	0.00
R0743:Pramel23	UTSW	4	143,425,134 (GRCm39)	missense	probably damaging	0.97
R0744:Pramel23	UTSW	4	143,425,056 (GRCm39)	missense	probably benign	0.19
R0833:Pramel23	UTSW	4	143,425,056 (GRCm39)	missense	probably benign	0.19
R1052:Pramel23	UTSW	4	143,423,477 (GRCm39)	missense	possibly damaging	0.81
R1690:Pramel23	UTSW	4	143,424,693 (GRCm39)	missense	probably benign	0.03
R1764:Pramel23	UTSW	4	143,424,840 (GRCm39)	missense	probably benign	0.14
R1896:Pramel23	UTSW	4	143,424,714 (GRCm39)	missense	probably benign	0.11
R2084:Pramel23	UTSW	4	143,425,920 (GRCm39)	missense	probably damaging	1.00
R2178:Pramel23	UTSW	4	143,424,612 (GRCm39)	missense	possibly damaging	0.95
R2888:Pramel23	UTSW	4	143,423,460 (GRCm39)	missense	probably benign	0.00
R3759:Pramel23	UTSW	4	143,423,721 (GRCm39)	missense	probably damaging	1.00
R4193:Pramel23	UTSW	4	143,424,903 (GRCm39)	missense	probably damaging	1.00
R4380:Pramel23	UTSW	4	143,424,856 (GRCm39)	missense	probably benign	0.21
R4385:Pramel23	UTSW	4	143,424,584 (GRCm39)	critical splice donor site	probably null
R4513:Pramel23	UTSW	4	143,424,718 (GRCm39)	missense	probably benign	0.00
R4647:Pramel23	UTSW	4	143,425,914 (GRCm39)	missense	probably benign	0.00
R4920:Pramel23	UTSW	4	143,425,853 (GRCm39)	missense	probably benign	0.05
R4994:Pramel23	UTSW	4	143,424,939 (GRCm39)	missense	possibly damaging	0.94
R5197:Pramel23	UTSW	4	143,424,632 (GRCm39)	missense	possibly damaging	0.86
R6005:Pramel23	UTSW	4	143,425,002 (GRCm39)	missense	probably benign	0.00
R6073:Pramel23	UTSW	4	143,424,838 (GRCm39)	missense	probably damaging	0.99
R6197:Pramel23	UTSW	4	143,423,886 (GRCm39)	missense	possibly damaging	0.90
R6264:Pramel23	UTSW	4	143,425,722 (GRCm39)	missense	possibly damaging	0.50
R6821:Pramel23	UTSW	4	143,425,874 (GRCm39)	nonsense	probably null
R6923:Pramel23	UTSW	4	143,425,676 (GRCm39)	missense	probably benign	0.06
R7034:Pramel23	UTSW	4	143,423,898 (GRCm39)	missense	probably damaging	1.00
R7140:Pramel23	UTSW	4	143,425,002 (GRCm39)	missense	probably benign	0.01
R7298:Pramel23	UTSW	4	143,425,075 (GRCm39)	missense	probably benign	0.23
R7529:Pramel23	UTSW	4	143,429,244 (GRCm39)
R7766:Pramel23	UTSW	4	143,425,809 (GRCm39)	missense	probably damaging	0.98
R7774:Pramel23	UTSW	4	143,423,676 (GRCm39)	missense	possibly damaging	0.89
R7816:Pramel23	UTSW	4	143,424,764 (GRCm39)	missense	probably benign	0.00
R8137:Pramel23	UTSW	4	143,425,835 (GRCm39)	missense	probably damaging	1.00
R8937:Pramel23	UTSW	4	143,423,562 (GRCm39)	missense	probably damaging	1.00
R8982:Pramel23	UTSW	4	143,424,886 (GRCm39)	missense	probably benign	0.01
R9016:Pramel23	UTSW	4	143,423,899 (GRCm39)	missense	possibly damaging	0.76
R9100:Pramel23	UTSW	4	143,425,727 (GRCm39)	missense	probably benign	0.04
R9200:Pramel23	UTSW	4	143,423,856 (GRCm39)	missense	possibly damaging	0.90
R9257:Pramel23	UTSW	4	143,425,685 (GRCm39)	missense	probably damaging	1.00
R9471:Pramel23	UTSW	4	143,423,749 (GRCm39)	missense	probably damaging	1.00
R9517:Pramel23	UTSW	4	143,424,930 (GRCm39)	missense	possibly damaging	0.95
Z1088:Pramel23	UTSW	4	143,424,650 (GRCm39)	missense	probably benign
Z1176:Pramel23	UTSW	4	143,423,515 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16