Mutagenetix > Incidental Mutations

Incidental Mutation 'R7246:Pramel7'

563520

Institutional Source

Beutler Lab

Gene Symbol

Pramel7

Ensembl Gene

ENSMUSG00000025839

Gene Name

preferentially expressed antigen in melanoma like 7

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R7246 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87489087-87497093 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87492165 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 85 (D85V)

Ref Sequence

ENSEMBL: ENSMUSP00000026957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026957]

Predicted Effect

probably damaging
Transcript: ENSMUST00000026957
AA Change: D85V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000026957
Gene: ENSMUSG00000025839
AA Change: D85V

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	207	407	3e-14	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (74/76)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,635,902	S318R	probably damaging	Het
Abce1	A	T	8: 79,703,069	N74K	probably damaging	Het
Akr1b7	T	A	6: 34,415,469	D72E	probably benign	Het
Amer3	T	A	1: 34,586,728	I16N	possibly damaging	Het
Atp6v0d1	T	C	8: 105,530,974	N108D	probably damaging	Het
Avpr1b	T	C	1: 131,600,270	V177A	probably damaging	Het
B020011L13Rik	A	T	1: 117,801,239	K159*	probably null	Het
Bpifb1	T	C	2: 154,207,092	L172P	probably damaging	Het
Brca1	G	A	11: 101,523,378	T1310I	probably benign	Het
C130074G19Rik	C	A	1: 184,882,969	R8L	probably damaging	Het
Ccdc178	T	C	18: 22,109,754	H268R	possibly damaging	Het
Cdc42ep5	A	G	7: 4,151,474	V105A	possibly damaging	Het
Cntn4	T	C	6: 106,506,219	L245P	probably damaging	Het
Crtac1	T	C	19: 42,287,926	E521G	probably benign	Het
Cts7	T	A	13: 61,355,580	N190I	probably damaging	Het
Cul7	A	G	17: 46,662,067	E1368G	probably benign	Het
Dpp10	G	A	1: 123,334,377	P759S	probably damaging	Het
Etf1	A	G	18: 34,931,911	S11P	unknown	Het
Exd2	G	T	12: 80,480,535	L167F	probably damaging	Het
Exoc8	T	A	8: 124,896,417	R404*	probably null	Het
Fat2	T	C	11: 55,296,382	T1213A	probably benign	Het
Fgfr2	T	C	7: 130,242,406			Het
Gm4756	A	T	12: 72,619,492	M89K	possibly damaging	Het
Gtf3c1	T	A	7: 125,669,094			Het
Id2	T	A	12: 25,095,821	I64F	probably damaging	Het
Idh3a	G	T	9: 54,592,472	A75S	probably damaging	Het
Itgb8	C	G	12: 119,168,050	G620A	probably damaging	Het
Itih5	T	A	2: 10,187,062		probably null	Het
Lamtor5	A	T	3: 107,282,020	D124V	probably damaging	Het
Mast4	T	C	13: 102,794,003	E439G	probably damaging	Het
Meltf	T	G	16: 31,894,862	L641R	probably damaging	Het
Mesd	G	T	7: 83,892,212		probably benign	Het
Nfia	C	T	4: 98,065,342	P439L	probably damaging	Het
Nptx1	A	T	11: 119,544,590		probably null	Het
Olfr1086	A	G	2: 86,677,289	F15L	probably benign	Het
Olfr531	T	A	7: 140,400,148	R299S	probably benign	Het
Olfr847	G	A	9: 19,375,465	Q139*	probably null	Het
Olfr98	A	T	17: 37,263,014	C217S	probably benign	Het
Pdss2	T	A	10: 43,372,176	H225Q	probably benign	Het
Pik3r5	C	A	11: 68,492,943	S529R	probably benign	Het
Plxna2	T	C	1: 194,644,282	S175P	possibly damaging	Het
Pom121l12	T	A	11: 14,599,551	W86R	probably benign	Het
Ppid	C	T	3: 79,591,433		probably benign	Het
Prune2	C	T	19: 17,121,368	T1412I	probably damaging	Het
Ptprd	T	C	4: 76,128,676	Y204C	probably damaging	Het
Rasgrp1	G	A	2: 117,338,354	R48*	probably null	Het
Rbks	A	G	5: 31,647,783	S246P	possibly damaging	Het
Rnf113a2	G	T	12: 84,417,677	M114I	possibly damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGCCGGCGGCG	7: 97,579,922		probably benign	Het
Scara3	A	G	14: 65,931,644	S175P	probably damaging	Het
Slc4a4	T	A	5: 89,122,403	L261Q	probably damaging	Het
Sparcl1	T	C	5: 104,085,157	I593V	probably benign	Het
Suclg1	C	T	6: 73,276,713	H115Y	unknown	Het
Syde2	T	A	3: 145,988,755	C253S	probably benign	Het
Tecrl	A	T	5: 83,279,335	I322N	probably damaging	Het
Tesmin	C	T	19: 3,406,965	A428V	probably damaging	Het
Thbd	T	A	2: 148,406,485	T488S	probably benign	Het
Tln2	A	T	9: 67,262,979	V876E	probably damaging	Het
Ttc30a2	A	G	2: 75,977,679	L163P	probably damaging	Het
Ttll13	A	C	7: 80,254,163	K280Q	probably damaging	Het
Unc13b	T	A	4: 43,172,910	I1246K	unknown	Het
Usp47	T	A	7: 112,115,909			Het
Vmn1r192	C	T	13: 22,187,774	R92Q	probably damaging	Het
Vmn2r111	T	C	17: 22,548,714	T601A	probably damaging	Het
Vmn2r51	A	G	7: 10,102,501	F118L	probably benign	Het
Vmn2r74	T	A	7: 85,955,965	I492L	probably benign	Het
Vmn2r93	C	T	17: 18,325,750	T628I	possibly damaging	Het
Vps13d	C	T	4: 145,156,050	R991K		Het
Wdr5b	T	C	16: 36,041,936	S142P	probably damaging	Het
Zfp428	G	T	7: 24,515,644		probably null	Het

Other mutations in Pramel7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00471:Pramel7	APN	2	87491085	missense	probably damaging	1.00
IGL01302:Pramel7	APN	2	87491373	missense	possibly damaging	0.58
IGL01365:Pramel7	APN	2	87491413	splice site	probably benign
IGL01728:Pramel7	APN	2	87491330	missense	possibly damaging	0.95
IGL01769:Pramel7	APN	2	87489588	missense	probably benign	0.09
IGL01932:Pramel7	APN	2	87491113	missense	possibly damaging	0.80
IGL02971:Pramel7	APN	2	87490073	missense	probably benign	0.03
IGL03376:Pramel7	APN	2	87489603	missense	probably damaging	1.00
IGL03380:Pramel7	APN	2	87491372	missense	probably benign	0.38
R0625:Pramel7	UTSW	2	87491008	missense	probably benign	0.02
R1077:Pramel7	UTSW	2	87491190	missense	probably damaging	1.00
R1455:Pramel7	UTSW	2	87489723	missense	probably benign	0.00
R1666:Pramel7	UTSW	2	87492403	missense	probably damaging	0.99
R1863:Pramel7	UTSW	2	87491331	missense	probably benign	0.35
R1977:Pramel7	UTSW	2	87491121	missense	probably benign	0.01
R2141:Pramel7	UTSW	2	87489977	missense	probably damaging	1.00
R3027:Pramel7	UTSW	2	87491403	missense	probably benign	0.01
R4374:Pramel7	UTSW	2	87490071	missense	probably benign	0.05
R4735:Pramel7	UTSW	2	87490843	nonsense	probably null
R5232:Pramel7	UTSW	2	87489976	missense	probably damaging	0.97
R6255:Pramel7	UTSW	2	87489663	missense	probably benign	0.00
R6611:Pramel7	UTSW	2	87490049	missense	probably damaging	1.00
R6898:Pramel7	UTSW	2	87489726	missense	probably damaging	0.98
R7293:Pramel7	UTSW	2	87492362	missense	probably benign	0.28
R7408:Pramel7	UTSW	2	87490845	missense	possibly damaging	0.89
R7431:Pramel7	UTSW	2	87489938	missense	possibly damaging	0.65
R7469:Pramel7	UTSW	2	87491404	missense	probably benign	0.01
R8300:Pramel7	UTSW	2	87489623	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTCCAGGCACCAATAGCTCTC -3'
(R):5'- ATGCGGAGTGCCTAATAAGG -3'

Sequencing Primer
(F):5'- AGTCAGGGTTTCTCTGTATAGCCC -3'
(R):5'- GGAGTGCCTAATAAGGGAATTCTTCC -3'

Posted On

2019-06-26