Mutagenetix > Incidental Mutation

Incidental Mutation 'R4808:Pramel5'

370818

Institutional Source

Beutler Lab

Gene Symbol

Pramel5

Ensembl Gene

ENSMUSG00000036749

Gene Name

preferentially expressed antigen in melanoma like 5

Synonyms

OTTMUSG00000010540

MMRRC Submission

042427-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R4808 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144270633-144280488 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 144272755 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 254 (A254V)

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: A254V

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000044222
Gene: ENSMUSG00000036749
AA Change: A254V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000105752
AA Change: A254V

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000101378
Gene: ENSMUSG00000036749
AA Change: A254V

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

99% (71/72)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,849,672	F309S	unknown	Het
Abi3bp	A	G	16: 56,594,516	D347G	probably damaging	Het
Adora2a	A	G	10: 75,333,446	N248S	probably damaging	Het
Agap3	T	C	5: 24,501,245	F836L	probably benign	Het
Arap2	G	A	5: 62,730,641	T454M	probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Atm	A	G	9: 53,445,495	S2819P	probably damaging	Het
Atp8b1	A	G	18: 64,561,711	F500S	probably benign	Het
Catsper1	G	A	19: 5,344,136	D682N	possibly damaging	Het
Ccdc105	A	T	10: 78,752,864	D37E	probably benign	Het
Chordc1	A	G	9: 18,292,413	Y6C	probably damaging	Het
Cped1	A	G	6: 22,088,757	K273R	probably damaging	Het
Crat	T	C	2: 30,410,021	I116V	probably benign	Het
Cyp26a1	A	G	19: 37,701,125	H423R	probably benign	Het
Cyp4f40	A	G	17: 32,674,275	E360G	probably benign	Het
D430041D05Rik	A	C	2: 104,201,110		probably null	Het
Eif3i	A	T	4: 129,592,064	F323I	probably benign	Het
Fam53a	A	G	5: 33,607,679	S228P	probably damaging	Het
Gm10305	C	T	4: 99,273,244		noncoding transcript	Het
Gm7347	C	T	5: 26,054,997	R185H	probably benign	Het
Golga2	G	T	2: 32,303,214	A441S	probably benign	Het
Gphn	T	A	12: 78,654,880	S608T	probably benign	Het
Gramd1b	A	T	9: 40,304,349	V620E	possibly damaging	Het
H2-M9	T	C	17: 36,640,792	T264A	probably damaging	Het
Hist2h2bb	T	G	3: 96,270,013	S88A	probably benign	Het
Hjurp	G	C	1: 88,277,215		probably benign	Het
Hsd3b6	G	A	3: 98,806,285	H233Y	probably damaging	Het
Ighv6-7	T	A	12: 114,455,721	R88*	probably null	Het
Jup	C	T	11: 100,378,192	R465H	probably damaging	Het
Kif16b	A	T	2: 142,857,358	Y101N	probably damaging	Het
Lmo2	T	C	2: 103,981,062	Y147H	probably damaging	Het
Mapkap1	G	A	2: 34,597,422		probably null	Het
Myocos	T	C	1: 162,657,040		probably benign	Het
Nav1	C	T	1: 135,455,204	G1197S	probably damaging	Het
Oas1g	T	G	5: 120,879,322	K223T	possibly damaging	Het
Olfr293	A	G	7: 86,663,938	D92G	probably benign	Het
Olfr577	T	C	7: 102,973,911	H27R	probably damaging	Het
Oprd1	G	A	4: 132,117,394	T101M	probably damaging	Het
Pcdha7	G	A	18: 36,974,228	C102Y	probably damaging	Het
Pcx	T	A	19: 4,620,928	S1086T	probably benign	Het
Pde8a	A	G	7: 81,282,931	T114A	probably benign	Het
Pias4	A	G	10: 81,155,840		probably null	Het
Pkn3	G	A	2: 30,090,081	G750E	probably damaging	Het
Ptprq	A	G	10: 107,718,507	L119P	probably damaging	Het
Rasgrf2	A	T	13: 92,023,682	L395Q	probably damaging	Het
Rbm19	T	C	5: 120,118,774	S51P	probably damaging	Het
Rfx5	A	G	3: 94,958,280	T297A	probably benign	Het
Scaf1	T	C	7: 45,008,639	E272G	probably damaging	Het
Slc24a2	G	T	4: 87,032,238	Q396K	probably benign	Het
Slc39a14	T	C	14: 70,315,801	I162V	probably damaging	Het
Snap25	A	G	2: 136,770,102	D70G	probably damaging	Het
Spata31d1b	C	T	13: 59,715,721	P228S	probably benign	Het
Sppl3	T	A	5: 115,083,426		probably benign	Het
Sspo	A	G	6: 48,451,161	D314G	probably damaging	Het
Steap1	G	T	5: 5,738,829		probably benign	Het
Suox	T	A	10: 128,671,889	D90V	possibly damaging	Het
Sycp2	T	C	2: 178,393,961		probably benign	Het
Tln2	G	T	9: 67,331,733	T1087K	probably benign	Het
Uap1l1	A	G	2: 25,362,085	S473P	probably damaging	Het
Xpo5	T	A	17: 46,235,970	N882K	probably benign	Het
Zfp536	A	T	7: 37,479,305	C228S	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
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
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
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'- TGACAAGTCAGGATGCAATAGC -3'
(R):5'- GTCCCGAACTGAGGTTCTTG -3'

Sequencing Primer
(F):5'- GTCCTTTCTTACCTGAGCA -3'
(R):5'- CCCGAACTGAGGTTCTTGAAGTTTTC -3'

Posted On

2016-02-04