Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02278:Pramel5'

289770

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramel5

Ensembl Gene

ENSMUSG00000036749

Gene Name

preferentially expressed antigen in melanoma like 5

Synonyms

OTTMUSG00000010540

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

IGL02278

Quality Score

Status

Chromosome

Chromosomal Location

144270633-144280488 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144271551 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 374 (L374P)

Ref Sequence

ENSEMBL: ENSMUSP00000101378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035757] [ENSMUST00000105752]

AlphaFold

Q7TPY4

Predicted Effect

probably damaging
Transcript: ENSMUST00000035757
AA Change: L374P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044222
Gene: ENSMUSG00000036749
AA Change: L374P

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	224	411	1e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105752
AA Change: L374P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101378
Gene: ENSMUSG00000036749
AA Change: L374P

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	224	411	1e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133357

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144127

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bbs4	T	A	9: 59,341,168	Q84L	possibly damaging	Het
Cemip	A	T	7: 83,937,438	W1303R	probably damaging	Het
Edrf1	T	C	7: 133,657,000	S702P	probably benign	Het
Muc4	C	A	16: 32,754,529	H1468N	probably benign	Het
Nav1	G	A	1: 135,463,714		probably benign	Het
Slc2a2	T	C	3: 28,717,455	I178T	probably damaging	Het
Tsnaxip1	A	G	8: 105,827,781		probably benign	Het
Zfp850	T	A	7: 28,008,397	Q7L	probably damaging	Het

Other mutations in Pramel5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Pramel5	APN	4	144271621	missense	probably damaging	1.00
IGL00990:Pramel5	APN	4	144273979	missense	probably damaging	1.00
IGL01070:Pramel5	APN	4	144271272	missense	probably damaging	1.00
IGL01298:Pramel5	APN	4	144271162	utr 3 prime	probably benign
IGL01653:Pramel5	APN	4	144273859	missense	probably benign	0.01
IGL02150:Pramel5	APN	4	144273201	missense	possibly damaging	0.93
IGL02671:Pramel5	APN	4	144273112	missense	probably benign	0.25
IGL02868:Pramel5	APN	4	144271352	missense	probably benign	0.03
IGL02981:Pramel5	APN	4	144272860	missense	probably benign	0.01
R0532:Pramel5	UTSW	4	144272740	missense	probably benign	0.03
R0646:Pramel5	UTSW	4	144271620	missense	probably damaging	1.00
R1328:Pramel5	UTSW	4	144271488	missense	probably damaging	1.00
R1902:Pramel5	UTSW	4	144273863	nonsense	probably null
R2027:Pramel5	UTSW	4	144271704	missense	probably damaging	1.00
R2240:Pramel5	UTSW	4	144272936	nonsense	probably null
R2439:Pramel5	UTSW	4	144273740	missense	probably benign	0.01
R3922:Pramel5	UTSW	4	144273052	missense	probably damaging	1.00
R4470:Pramel5	UTSW	4	144271345	missense	possibly damaging	0.89
R4808:Pramel5	UTSW	4	144272755	missense	probably benign	0.04
R4969:Pramel5	UTSW	4	144271617	missense	probably damaging	1.00
R5195:Pramel5	UTSW	4	144271741	missense	probably benign	0.01
R5198:Pramel5	UTSW	4	144273494	intron	probably benign
R5930:Pramel5	UTSW	4	144272983	missense	probably benign	0.43
R5988:Pramel5	UTSW	4	144273146	missense	possibly damaging	0.46
R6662:Pramel5	UTSW	4	144273105	missense	probably benign	0.32
R6988:Pramel5	UTSW	4	144274007	start gained	probably benign
R7116:Pramel5	UTSW	4	144273881	missense	possibly damaging	0.94
R7638:Pramel5	UTSW	4	144271440	missense	possibly damaging	0.93
R8247:Pramel5	UTSW	4	144272825	missense	probably damaging	1.00
R8993:Pramel5	UTSW	4	144272959	missense	possibly damaging	0.81
R9049:Pramel5	UTSW	4	144273916	missense	probably benign	0.02
R9402:Pramel5	UTSW	4	144271456	missense	probably benign	0.15
R9632:Pramel5	UTSW	4	144272975	missense	probably benign	0.15
R9710:Pramel5	UTSW	4	144272975	missense	probably benign	0.15
X0028:Pramel5	UTSW	4	144272836	missense	probably benign	0.00
Z1176:Pramel5	UTSW	4	144273860	missense	probably benign	0.00

Posted On

2015-04-16