Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00088:Pramel32'

1724

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 #

IGL00088

Quality Score

Status

Chromosome

Chromosomal Location

88545557-88552423 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88547307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 121 (K121N)

Ref Sequence

ENSEMBL: ENSMUSP00000138736 (fasta)

Gene Model

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

AlphaFold

Q3UX49

Predicted Effect

probably benign
Transcript: ENSMUST00000053304
AA Change: K208N

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000056691
Gene: ENSMUSG00000038330
AA Change: K208N

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
AA Change: K37N

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000156062
AA Change: K121N

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankhd1	A	G	18: 36,798,512 (GRCm39)		probably benign	Het
Anpep	A	G	7: 79,475,484 (GRCm39)	V879A	possibly damaging	Het
Asb13	T	G	13: 3,693,476 (GRCm39)	V78G	probably null	Het
Atad2b	A	G	12: 5,074,593 (GRCm39)	R1051G	probably damaging	Het
Bdp1	T	C	13: 100,235,018 (GRCm39)	Y192C	probably damaging	Het
C1ql2	G	T	1: 120,269,399 (GRCm39)	G185C	probably damaging	Het
Catsperg2	A	G	7: 29,404,829 (GRCm39)	S745P	possibly damaging	Het
Col19a1	A	T	1: 24,600,387 (GRCm39)	S52T	unknown	Het
Col4a2	G	T	8: 11,493,685 (GRCm39)	G1418V	probably damaging	Het
Crnkl1	C	T	2: 145,760,388 (GRCm39)	D677N	possibly damaging	Het
Cyp2j8	T	A	4: 96,392,079 (GRCm39)	N125I	probably benign	Het
Cyp2t4	A	T	7: 26,854,723 (GRCm39)	M68L	probably benign	Het
Dclk2	T	A	3: 86,706,397 (GRCm39)		probably null	Het
Dmxl2	T	C	9: 54,308,988 (GRCm39)	D1921G	probably benign	Het
Dnah10	G	A	5: 124,905,667 (GRCm39)	G4104S	probably damaging	Het
Echdc2	T	C	4: 108,036,108 (GRCm39)	I273T	probably damaging	Het
Extl1	T	C	4: 134,085,330 (GRCm39)	K596E	probably damaging	Het
Fads3	A	T	19: 10,029,663 (GRCm39)	D108V	probably null	Het
Fam135b	A	G	15: 71,322,343 (GRCm39)	L1274P	probably damaging	Het
Fat1	T	A	8: 45,477,639 (GRCm39)	H2228Q	possibly damaging	Het
Gcc2	C	T	10: 58,128,502 (GRCm39)	H1341Y	probably damaging	Het
Gls2	A	G	10: 128,036,840 (GRCm39)		probably null	Het
Gpr137	A	C	19: 6,917,072 (GRCm39)	V139G	probably damaging	Het
Ikbke	A	G	1: 131,197,749 (GRCm39)		probably null	Het
Irak2	A	T	6: 113,655,636 (GRCm39)	N285Y	probably benign	Het
Kcnu1	G	A	8: 26,387,884 (GRCm39)	C566Y	probably benign	Het
Klhl29	G	A	12: 5,190,705 (GRCm39)	P97S	probably benign	Het
Lama4	T	C	10: 38,941,591 (GRCm39)		probably benign	Het
Lhx6	G	A	2: 35,981,728 (GRCm39)		probably benign	Het
Mdn1	T	C	4: 32,723,651 (GRCm39)	L2529P	probably damaging	Het
Muc4	G	A	16: 32,754,086 (GRCm38)	G1321R	probably benign	Het
Naa15	T	A	3: 51,345,826 (GRCm39)	V19D	probably damaging	Het
Ncbp3	A	T	11: 72,964,355 (GRCm39)		probably benign	Het
Nckipsd	G	A	9: 108,692,168 (GRCm39)	V530I	probably benign	Het
Neb	A	G	2: 52,198,759 (GRCm39)	I394T	possibly damaging	Het
Nnmt	A	T	9: 48,503,224 (GRCm39)		probably benign	Het
Nup58	T	A	14: 60,480,026 (GRCm39)	I207L	probably benign	Het
Or14j2	A	T	17: 37,885,808 (GRCm39)	C169S	probably damaging	Het
Or5ae1	T	A	7: 84,565,578 (GRCm39)	M197K	probably damaging	Het
Or5k16	C	T	16: 58,736,213 (GRCm39)	E264K	probably benign	Het
Otud4	T	A	8: 80,399,510 (GRCm39)	N741K	probably damaging	Het
Pard6a	T	A	8: 106,429,833 (GRCm39)	C264S	probably benign	Het
Plch2	T	C	4: 155,091,099 (GRCm39)	N276S	probably damaging	Het
Pramel31	T	A	4: 144,089,100 (GRCm39)	H139Q	possibly damaging	Het
Racgap1	T	C	15: 99,534,003 (GRCm39)		probably benign	Het
Rad51d	T	C	11: 82,780,572 (GRCm39)	D70G	probably damaging	Het
Recql4	C	T	15: 76,591,536 (GRCm39)	A484T	possibly damaging	Het
Reg3g	A	T	6: 78,443,762 (GRCm39)	S149T	probably benign	Het
Rpl13a	C	A	7: 44,776,495 (GRCm39)		probably null	Het
Scn10a	T	C	9: 119,501,292 (GRCm39)	Y164C	probably damaging	Het
Scn2a	A	G	2: 65,594,784 (GRCm39)	I1878V	probably benign	Het
Sgcg	T	A	14: 61,477,796 (GRCm39)	R98*	probably null	Het
Speer4c2	C	A	5: 15,861,884 (GRCm39)		probably benign	Het
Tas2r140	A	T	6: 40,468,274 (GRCm39)	I35F	probably benign	Het
Tex19.2	A	G	11: 121,007,638 (GRCm39)	F270S	possibly damaging	Het
Traip	C	T	9: 107,847,749 (GRCm39)	R391W	probably benign	Het
Trim7	A	G	11: 48,736,398 (GRCm39)	N251D	probably damaging	Het
Trmt2a	T	A	16: 18,067,351 (GRCm39)	V8D	probably benign	Het
Tut7	T	C	13: 59,964,512 (GRCm39)	E221G	probably damaging	Het
Ubr3	A	C	2: 69,819,154 (GRCm39)	I9L	probably benign	Het
Usp42	A	G	5: 143,702,897 (GRCm39)	S575P	probably benign	Het
Vmn2r52	G	T	7: 9,903,023 (GRCm39)	H468Q	probably benign	Het
Vmn2r59	T	A	7: 41,661,488 (GRCm39)	T776S	possibly damaging	Het

Other mutations in Pramel32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02351:Pramel32	APN	4	88,546,127 (GRCm39)	missense	probably damaging	1.00
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

2011-07-12