Mutagenetix > Incidental Mutation

Incidental Mutation 'R3922:Pramel5'

306976

Institutional Source

Beutler Lab

Gene Symbol

Pramel5

Ensembl Gene

ENSMUSG00000036749

Gene Name

preferentially expressed antigen in melanoma like 5

Synonyms

OTTMUSG00000010540

MMRRC Submission

040819-MU

Accession Numbers

Essential gene?

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

Stock #

R3922 (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 144273052 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 155 (L155P)

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: L155P

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

SMART Domains

Protein: ENSMUSP00000044222
Gene: ENSMUSG00000036749
AA Change: L155P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105752
AA Change: L155P

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

SMART Domains

Protein: ENSMUSP00000101378
Gene: ENSMUSG00000036749
AA Change: L155P

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

0.5208

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
4921504E06Rik	T	A	2: 19,480,560	E432V	probably benign	Het
Ahnak	G	A	19: 9,006,328	D1659N	probably benign	Het
Arfgap2	C	T	2: 91,274,805	R405W	probably damaging	Het
Arhgef28	A	G	13: 97,993,944	L462P	possibly damaging	Het
Arid1b	T	C	17: 5,343,041	V2282A	probably damaging	Het
Cdkl1	G	T	12: 69,756,599	R168S	probably damaging	Het
Cep70	T	A	9: 99,275,579	*117R	probably null	Het
Cnnm1	A	G	19: 43,440,445	M1V	probably null	Het
Cntrl	A	G	2: 35,129,739	E526G	probably damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Ddx59	T	A	1: 136,416,744	V51D	probably benign	Het
Dtd2	G	C	12: 52,004,951		probably null	Het
Eea1	T	A	10: 96,036,633	N1068K	probably benign	Het
Egfr	T	A	11: 16,881,495	C555S	probably damaging	Het
Esd	A	T	14: 74,743,227	Q130H	probably benign	Het
Gm38100	T	C	1: 175,921,286	V306A	probably benign	Het
Gpr89	A	T	3: 96,890,899	I147N	probably damaging	Het
H2-M10.1	T	A	17: 36,325,685	I76L	probably benign	Het
Lgi4	A	T	7: 31,067,448	D300V	probably benign	Het
Lrp1b	C	A	2: 40,677,581	V276L	unknown	Het
Lrp2	T	C	2: 69,506,376	K1351E	probably benign	Het
Mroh8	T	C	2: 157,222,811	I782V	probably benign	Het
Msrb1	T	C	17: 24,740,083	S70P	probably damaging	Het
Nek10	T	C	14: 14,861,585	M547T	possibly damaging	Het
Olfr1501	T	C	19: 13,838,766	T136A	probably damaging	Het
Olfr615	T	C	7: 103,560,705	V76A	probably benign	Het
Olfr769	C	A	10: 129,111,613	V271F	possibly damaging	Het
P4htm	T	C	9: 108,582,895	N227D	probably benign	Het
Plekhm2	T	C	4: 141,629,532	T787A	probably benign	Het
Sbno1	T	C	5: 124,381,930	Y1122C	probably damaging	Het
Scn9a	T	A	2: 66,526,873	D1028V	possibly damaging	Het
Sft2d1	G	T	17: 8,318,882	L34F	possibly damaging	Het
Slc19a3	A	T	1: 83,022,957	F113Y	probably damaging	Het
Slc27a3	G	T	3: 90,387,085	H460N	possibly damaging	Het
Slc35g2	A	T	9: 100,552,727	I297N	probably benign	Het
Ssh1	T	G	5: 113,942,708	Q865P	possibly damaging	Het
Trp63	A	G	16: 25,889,009	D583G	probably damaging	Het
Usp28	T	C	9: 49,030,923		probably null	Het
Wdr43	A	G	17: 71,638,301		probably benign	Het
Zfhx4	A	G	3: 5,400,647	Y1955C	probably damaging	Het
Zfp108	G	A	7: 24,261,348	G455R	probably damaging	Het
Zfp353-ps	A	T	8: 42,083,012		noncoding transcript	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
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'- TAGGTCTGCAAGGTCAGGAG -3'
(R):5'- GAACCTACAAGTGCTTGATTTGGG -3'

Sequencing Primer
(F):5'- TCTGCAAGGTCAGGAGGTCTC -3'
(R):5'- ACAAGTGCTTGATTTGGGAAATGCC -3'

Posted On

2015-04-17