Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02868:Pramel5'

362395

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 #

IGL02868

Quality Score

Status

Chromosome

Chromosomal Location

144270633-144280488 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 144271352 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 440 (N440K)

Ref Sequence

ENSEMBL: ENSMUSP00000101378 (fasta)

Gene Model

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

AlphaFold

Q7TPY4

Predicted Effect

probably benign
Transcript: ENSMUST00000035757
AA Change: N440K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000044222
Gene: ENSMUSG00000036749
AA Change: N440K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000105752
AA Change: N440K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000101378
Gene: ENSMUSG00000036749
AA Change: N440K

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap4	A	G	X: 73,900,402	I224T	probably benign	Het
Atp12a	A	G	14: 56,384,182	D758G	probably damaging	Het
Clca3b	C	A	3: 144,827,564	G569V	probably damaging	Het
Dlgap4	G	A	2: 156,700,896	R73Q	probably damaging	Het
Efcc1	C	T	6: 87,751,761		probably benign	Het
Eno3	T	A	11: 70,662,000	V369E	probably damaging	Het
Espl1	T	A	15: 102,313,990	C1022*	probably null	Het
Gm884	A	T	11: 103,615,139	L2001H	probably benign	Het
Grhl3	T	C	4: 135,554,604	D319G	probably damaging	Het
Huwe1	G	A	X: 151,908,833	R2538H	possibly damaging	Het
Ms4a4d	T	A	19: 11,550,282	I51N	probably damaging	Het
Mtmr9	T	C	14: 63,524,139	N522S	probably benign	Het
Nfe2l1	A	G	11: 96,820,140	I133T	probably damaging	Het
Ninl	A	G	2: 150,937,054	Y1296H	probably benign	Het
Nipal3	A	G	4: 135,466,871	S284P	probably damaging	Het
Olfr1009	A	T	2: 85,721,575	T57S	probably benign	Het
Olfr1286	A	T	2: 111,420,493	F153I	possibly damaging	Het
Rabep1	T	C	11: 70,874,746	V12A	probably benign	Het
Rbm5	G	T	9: 107,749,700		probably benign	Het
Ric3	T	C	7: 109,054,419	E155G	probably damaging	Het
Slc12a7	T	A	13: 73,806,388	M897K	probably benign	Het
Slc39a8	G	T	3: 135,856,026	A169S	probably damaging	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Synrg	G	A	11: 83,987,050		probably benign	Het
Tas2r107	T	C	6: 131,659,286	T267A	probably benign	Het
Tead3	G	T	17: 28,333,095	Y354*	probably null	Het
Trim3	T	C	7: 105,613,032	K579R	possibly damaging	Het
Uaca	A	T	9: 60,863,637	K362M	probably damaging	Het
Vmn2r94	A	G	17: 18,244,054	I658T	possibly damaging	Het
Vps13b	C	T	15: 35,884,519	P3113S	probably benign	Het
Zfp251	A	G	15: 76,854,534	S115P	probably damaging	Het
Zfp683	G	A	4: 134,055,866	V214M	probably benign	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
IGL02278:Pramel5	APN	4	144271551	missense	probably damaging	1.00
IGL02671:Pramel5	APN	4	144273112	missense	probably benign	0.25
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

2015-12-18