Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02351:Pramel32'

289478

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramel32

Ensembl Gene

ENSMUSG00000038330

Gene Name

PRAME like 32

Synonyms

C87499

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.298) question?

Stock #

IGL02351

Quality Score

Status

Chromosome

Chromosomal Location

88545557-88552423 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88546127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 405 (I405N)

Ref Sequence

ENSEMBL: ENSMUSP00000056691 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053304] [ENSMUST00000107142] [ENSMUST00000107143] [ENSMUST00000134155] [ENSMUST00000156062]

AlphaFold

Q3UX49

Predicted Effect

probably damaging
Transcript: ENSMUST00000053304
AA Change: I405N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056691
Gene: ENSMUSG00000038330
AA Change: I405N

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	223	425	4e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107142

Predicted Effect

probably benign
Transcript: ENSMUST00000107143

Predicted Effect

probably benign
Transcript: ENSMUST00000134155

Predicted Effect

probably benign
Transcript: ENSMUST00000156062

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(3) : Targeted(2) Gene trapped(1)

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	G	16: 56,474,418 (GRCm39)	T448A	possibly damaging	Het
Adamtsl1	T	A	4: 86,075,110 (GRCm39)		probably null	Het
Adgra3	A	G	5: 50,215,900 (GRCm39)	V73A	probably benign	Het
Aggf1	T	C	13: 95,489,358 (GRCm39)		probably benign	Het
Aktip	C	T	8: 91,853,520 (GRCm39)	V96I	possibly damaging	Het
Atm	A	G	9: 53,433,476 (GRCm39)	I258T	probably benign	Het
Baz1b	C	T	5: 135,273,160 (GRCm39)	T1428I	probably damaging	Het
C3ar1	A	T	6: 122,826,934 (GRCm39)	Y428N	probably damaging	Het
Cadps	A	G	14: 12,597,380 (GRCm38)	S437P	probably damaging	Het
Car4	C	T	11: 84,856,593 (GRCm39)	P294S	probably damaging	Het
Cenpq	A	G	17: 41,235,223 (GRCm39)	L213P	probably damaging	Het
Cept1	A	G	3: 106,446,504 (GRCm39)		probably null	Het
Cln6	A	G	9: 62,754,407 (GRCm39)	I150V	probably benign	Het
Cyb5r3	T	C	15: 83,045,136 (GRCm39)	T94A	probably benign	Het
Cyp2c67	A	G	19: 39,605,861 (GRCm39)	M345T	probably damaging	Het
Dapk2	T	A	9: 66,153,805 (GRCm39)	I187N	probably damaging	Het
Dkk2	A	G	3: 131,883,673 (GRCm39)	D191G	probably benign	Het
Dnah8	T	A	17: 30,986,785 (GRCm39)	F3145I	probably damaging	Het
Dock1	A	C	7: 134,710,548 (GRCm39)	D1190A	possibly damaging	Het
Ehhadh	T	A	16: 21,581,620 (GRCm39)	L457F	probably damaging	Het
Ercc6l2	T	C	13: 64,001,497 (GRCm39)	L552P	probably damaging	Het
Ghrhr	T	G	6: 55,361,138 (GRCm39)	I284S	probably damaging	Het
Gm10288	A	T	3: 146,544,954 (GRCm39)		noncoding transcript	Het
Gp6	T	G	7: 4,397,507 (GRCm39)	I19L	probably benign	Het
Gria4	G	A	9: 4,456,206 (GRCm39)	S698L	possibly damaging	Het
Ifng	A	T	10: 118,278,410 (GRCm39)	I53F	possibly damaging	Het
Kazn	A	C	4: 141,874,327 (GRCm39)		probably null	Het
Khk	A	T	5: 31,085,848 (GRCm39)	I136F	probably damaging	Het
Lnx1	T	A	5: 74,788,027 (GRCm39)	N98Y	probably damaging	Het
Lsp1	T	C	7: 142,042,679 (GRCm39)		probably null	Het
Lta4h	A	T	10: 93,314,329 (GRCm39)	N467I	probably benign	Het
Mcmbp	C	A	7: 128,311,505 (GRCm39)		probably null	Het
Me2	A	T	18: 73,931,038 (GRCm39)	I85K	probably benign	Het
Muc4	C	T	16: 32,569,804 (GRCm39)	T288I	possibly damaging	Het
Nadsyn1	A	T	7: 143,353,649 (GRCm39)	Y525N	probably damaging	Het
Nt5e	G	A	9: 88,209,946 (GRCm39)	V70M	probably damaging	Het
Or52e4	G	A	7: 104,706,182 (GRCm39)	G243D	probably damaging	Het
Or8b36	A	T	9: 37,937,332 (GRCm39)	I77L	possibly damaging	Het
Or9k7	T	G	10: 130,046,603 (GRCm39)	Y132S	probably damaging	Het
Pkd1l3	A	G	8: 110,373,129 (GRCm39)		probably benign	Het
Ppm1d	A	T	11: 85,236,541 (GRCm39)	E440V	probably damaging	Het
Ripor2	A	T	13: 24,915,572 (GRCm39)	E1047D	probably damaging	Het
Rwdd2b	G	A	16: 87,234,336 (GRCm39)	A18V	probably benign	Het
Serpina5	G	T	12: 104,068,384 (GRCm39)	K148N	probably damaging	Het
Setx	A	G	2: 29,036,976 (GRCm39)	K1154E	probably benign	Het
Skap1	T	A	11: 96,599,382 (GRCm39)		probably null	Het
Spcs2	T	C	7: 99,498,241 (GRCm39)	K81R	probably damaging	Het
Stt3b	T	A	9: 115,079,975 (GRCm39)	M646L	possibly damaging	Het
Suco	T	C	1: 161,646,195 (GRCm39)	T1169A	probably benign	Het
Susd1	A	T	4: 59,427,985 (GRCm39)	Y66*	probably null	Het
Trim34a	T	A	7: 103,910,441 (GRCm39)	C414*	probably null	Het
Trim58	G	A	11: 58,542,176 (GRCm39)	G379S	probably damaging	Het
Vmn2r50	T	A	7: 9,787,002 (GRCm39)	Q35L	probably benign	Het
Zfp418	T	C	7: 7,177,690 (GRCm39)		probably benign	Het
Zfp57	G	A	17: 37,320,919 (GRCm39)	V258I	probably benign	Het
Zng1	A	T	19: 24,909,026 (GRCm39)		probably null	Het

Other mutations in Pramel32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Pramel32	APN	4	88,547,307 (GRCm39)	missense	probably benign	0.43
IGL00229:Pramel32	APN	4	88,547,290 (GRCm39)	missense	probably damaging	0.99
IGL01938:Pramel32	APN	4	88,547,600 (GRCm39)	missense	possibly damaging	0.90
IGL02321:Pramel32	APN	4	88,548,340 (GRCm39)	missense	probably benign	0.33
IGL02358:Pramel32	APN	4	88,546,127 (GRCm39)	missense	probably damaging	1.00
P0005:Pramel32	UTSW	4	88,546,187 (GRCm39)	missense	probably damaging	1.00
R0521:Pramel32	UTSW	4	88,547,559 (GRCm39)	missense	probably damaging	0.96
R0578:Pramel32	UTSW	4	88,552,376 (GRCm39)	missense	probably benign	0.01
R0600:Pramel32	UTSW	4	88,547,536 (GRCm39)	missense	probably damaging	1.00
R0750:Pramel32	UTSW	4	88,545,905 (GRCm39)	missense	probably benign	0.01
R1483:Pramel32	UTSW	4	88,547,071 (GRCm39)	missense	probably damaging	1.00
R1502:Pramel32	UTSW	4	88,546,269 (GRCm39)	missense	probably benign	0.00
R1911:Pramel32	UTSW	4	88,548,309 (GRCm39)	missense	possibly damaging	0.93
R2204:Pramel32	UTSW	4	88,546,355 (GRCm39)	missense	probably damaging	0.99
R2507:Pramel32	UTSW	4	88,547,448 (GRCm39)	missense	possibly damaging	0.89
R2512:Pramel32	UTSW	4	88,547,195 (GRCm39)	missense	probably damaging	0.99
R4299:Pramel32	UTSW	4	88,546,419 (GRCm39)	missense	probably damaging	0.97
R4498:Pramel32	UTSW	4	88,547,129 (GRCm39)	splice site	probably null
R4656:Pramel32	UTSW	4	88,548,202 (GRCm39)	missense	probably benign	0.41
R4787:Pramel32	UTSW	4	88,547,450 (GRCm39)	nonsense	probably null
R4823:Pramel32	UTSW	4	88,547,452 (GRCm39)	missense	probably damaging	1.00
R4885:Pramel32	UTSW	4	88,546,219 (GRCm39)	missense	possibly damaging	0.50
R4948:Pramel32	UTSW	4	88,547,185 (GRCm39)	missense	probably damaging	1.00
R4967:Pramel32	UTSW	4	88,547,432 (GRCm39)	missense	probably damaging	1.00
R5229:Pramel32	UTSW	4	88,548,372 (GRCm39)	missense	possibly damaging	0.92
R5426:Pramel32	UTSW	4	88,547,647 (GRCm39)	intron	probably benign
R5520:Pramel32	UTSW	4	88,548,277 (GRCm39)	missense	probably damaging	1.00
R5574:Pramel32	UTSW	4	88,546,280 (GRCm39)	missense	probably benign	0.10
R5596:Pramel32	UTSW	4	88,548,292 (GRCm39)	missense	probably damaging	1.00
R6282:Pramel32	UTSW	4	88,548,291 (GRCm39)	missense	probably damaging	1.00
R6366:Pramel32	UTSW	4	88,547,102 (GRCm39)	missense	probably damaging	0.99
R6808:Pramel32	UTSW	4	88,548,291 (GRCm39)	missense	probably damaging	1.00
R6866:Pramel32	UTSW	4	88,545,977 (GRCm39)	missense	probably damaging	1.00
R7105:Pramel32	UTSW	4	88,548,339 (GRCm39)	missense	probably damaging	0.98
R7117:Pramel32	UTSW	4	88,547,195 (GRCm39)	missense	probably damaging	0.99
R7319:Pramel32	UTSW	4	88,548,184 (GRCm39)	missense	probably benign	0.25
R7345:Pramel32	UTSW	4	88,546,416 (GRCm39)	missense	possibly damaging	0.88
R7399:Pramel32	UTSW	4	88,546,202 (GRCm39)	missense	probably benign	0.01
R7626:Pramel32	UTSW	4	88,548,279 (GRCm39)	missense	probably damaging	1.00
R7751:Pramel32	UTSW	4	88,547,356 (GRCm39)	missense	probably benign	0.05
R8044:Pramel32	UTSW	4	88,548,212 (GRCm39)	missense	possibly damaging	0.47
R8849:Pramel32	UTSW	4	88,546,014 (GRCm39)	missense	probably benign	0.03
R9334:Pramel32	UTSW	4	88,548,186 (GRCm39)	missense	probably damaging	0.99
R9515:Pramel32	UTSW	4	88,546,219 (GRCm39)	missense	possibly damaging	0.50
RF012:Pramel32	UTSW	4	88,546,006 (GRCm39)	missense	probably damaging	0.97

Posted On

2015-04-16