Mutagenetix > Incidental Mutation

Incidental Mutation 'R1328:Pramel5'

157271

Institutional Source

Beutler Lab

Gene Symbol

Pramel5

Ensembl Gene

ENSMUSG00000036749

Gene Name

preferentially expressed antigen in melanoma like 5

Synonyms

OTTMUSG00000010540

MMRRC Submission

039394-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R1328 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144270633-144280488 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144271488 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 395 (L395P)

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: L395P

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

SMART Domains

Protein: ENSMUSP00000044222
Gene: ENSMUSG00000036749
AA Change: L395P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105752
AA Change: L395P

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

SMART Domains

Protein: ENSMUSP00000101378
Gene: ENSMUSG00000036749
AA Change: L395P

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

Meta Mutation Damage Score

0.5634

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.2%
20x: 89.9%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp4	C	T	7: 44,257,092		probably null	Het
Bcap29	T	C	12: 31,630,808	I60V	probably benign	Het
Ccdc71	T	A	9: 108,462,949		probably benign	Het
Ccnb1ip1	A	T	14: 50,789,925	V240E	probably benign	Het
Copa	C	T	1: 172,121,691		probably benign	Het
Dmxl2	G	T	9: 54,396,249	Q2314K	probably benign	Het
Fam181b	T	C	7: 93,080,229	I70T	probably damaging	Het
Fbxl14	T	C	6: 119,480,386	L176P	possibly damaging	Het
Fip1l1	T	A	5: 74,546,135	F144L	possibly damaging	Het
Flnc	T	C	6: 29,438,613	W169R	probably damaging	Het
H2-M3	T	C	17: 37,271,034	V127A	possibly damaging	Het
Il23r	T	A	6: 67,491,818		probably benign	Het
Krt18	C	T	15: 102,030,734	A251V	probably benign	Het
Mast1	A	G	8: 84,917,988		probably benign	Het
Olfr1499	G	A	19: 13,815,536	T18I	probably benign	Het
Olfr771	A	G	10: 129,160,424	S187P	possibly damaging	Het
Pkhd1l1	T	C	15: 44,497,996	Y481H	probably benign	Het
Polr3e	C	T	7: 120,933,823		probably benign	Het
Pou4f2	G	A	8: 78,436,130	A92V	probably benign	Het
Prmt9	T	C	8: 77,572,654	I659T	possibly damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rrp36	T	A	17: 46,672,779	K36*	probably null	Het
Sag	G	A	1: 87,810,294		probably benign	Het
Setd7	T	C	3: 51,542,819	Y62C	possibly damaging	Het
Smr2	AT	ATT	5: 88,108,824		probably null	Het
Sox13	T	C	1: 133,383,817	D559G	probably damaging	Het
Srd5a1	T	A	13: 69,575,191	Y236F	probably damaging	Het
Stxbp2	A	T	8: 3,642,657	I570F	possibly damaging	Het
Tbc1d31	T	C	15: 57,942,463		probably benign	Het
Trim33	A	G	3: 103,353,597	T1064A	possibly damaging	Het
Vmn1r8	T	C	6: 57,036,293	S110P	possibly damaging	Het
Vmn2r118	C	A	17: 55,608,620	M443I	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
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
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

Predicted Primers

PCR Primer
(F):5'- CAAAATAGACCTGCTTTGCCTGCC -3'
(R):5'- ATCTGTCCCAGTGTCCAAGCATCC -3'

Sequencing Primer
(F):5'- TGCCTTACACCCTTGAGTG -3'
(R):5'- GCTCAAATACCTGGACATGAGTTAC -3'

Posted On

2014-02-18