Mutagenetix > Incidental Mutation

Incidental Mutation 'P0005:Pramel32'

7624

Institutional Source

Beutler Lab

Gene Symbol

Pramel32

Ensembl Gene

ENSMUSG00000038330

Gene Name

PRAME like 32

Synonyms

C87499

MMRRC Submission

038262-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.394) question?

Stock #

P0005 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

88545557-88552423 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88546187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 385 (L385P)

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: L385P

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

SMART Domains

Protein: ENSMUSP00000056691
Gene: ENSMUSG00000038330
AA Change: L385P

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 85.5%
3x: 80.5%
10x: 66.1%
20x: 49.6%

Validation Efficiency

95% (104/109)

Allele List at MGI

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

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a1	T	C	8: 70,256,397 (GRCm39)	V845A	possibly damaging	Het
Casp6	T	C	3: 129,705,792 (GRCm39)	V153A	probably benign	Het
Col6a1	A	G	10: 76,553,163 (GRCm39)		probably benign	Het
Dars2	A	G	1: 160,881,509 (GRCm39)		probably null	Het
Hmgcll1	T	A	9: 75,982,041 (GRCm39)	M162K	possibly damaging	Het
Hydin	A	T	8: 111,220,921 (GRCm39)		probably null	Het
Ift74	A	G	4: 94,550,813 (GRCm39)		probably benign	Het
Itpr1	A	T	6: 108,358,218 (GRCm39)	I595F	probably damaging	Het
Mgat4f	T	A	1: 134,315,646 (GRCm39)	M15K	probably benign	Het
Mmp17	T	C	5: 129,673,695 (GRCm39)	V258A	probably benign	Het
Nek6	T	C	2: 38,459,749 (GRCm39)		probably null	Het
Nomo1	A	T	7: 45,686,981 (GRCm39)		probably null	Het
Nudt3	A	G	17: 27,815,689 (GRCm39)		probably benign	Het
Prkg2	A	C	5: 99,117,806 (GRCm39)	F512V	probably damaging	Het
Ptp4a3	T	A	15: 73,627,160 (GRCm39)	D72E	possibly damaging	Het
Rpgrip1l	A	T	8: 92,025,853 (GRCm39)		probably benign	Het
Rrp9	G	A	9: 106,358,376 (GRCm39)	R101H	probably benign	Het
Slc7a6os	T	C	8: 106,931,154 (GRCm39)	I161V	probably benign	Het
Tex15	T	C	8: 34,060,896 (GRCm39)	F109L	probably benign	Het
Tns2	A	G	15: 102,022,491 (GRCm39)	Q1188R	probably damaging	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
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
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

2012-10-05