Mutagenetix > Incidental Mutations

Incidental Mutation 'R1977:Pramel7'

221793

Institutional Source

Beutler Lab

Gene Symbol

Pramel7

Ensembl Gene

ENSMUSG00000025839

Gene Name

preferentially expressed antigen in melanoma like 7

Synonyms

MMRRC Submission

039990-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1977 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87489087-87497093 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87491121 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 190 (V190A)

Ref Sequence

ENSEMBL: ENSMUSP00000026957 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000026957
AA Change: V190A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000026957
Gene: ENSMUSG00000025839
AA Change: V190A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138293

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141790

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148030

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

99% (66/67)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	G	T	8: 122,781,533	C256F	probably damaging	Het
Adgra2	T	A	8: 27,115,761	V647D	possibly damaging	Het
AI593442	A	T	9: 52,678,192	S28R	probably damaging	Het
Akr1c21	G	C	13: 4,574,212	G22R	probably damaging	Het
Ampd3	T	C	7: 110,803,162	W458R	probably damaging	Het
Arhgap23	G	T	11: 97,451,447	R185L	possibly damaging	Het
Arhgap45	A	T	10: 80,020,818	I67F	probably damaging	Het
Asah1	A	G	8: 41,343,517		probably null	Het
Atl2	A	G	17: 79,852,590	Y56H	probably damaging	Het
Carf	A	T	1: 60,146,136	I447F	probably damaging	Het
Crmp1	A	G	5: 37,276,283	N162S	probably damaging	Het
Cyp2a5	A	G	7: 26,835,922	E103G	probably benign	Het
Cyp2c40	T	C	19: 39,778,041	D370G	probably damaging	Het
Dhrs2	T	A	14: 55,234,655	M1K	probably null	Het
Dnah17	T	C	11: 118,112,591	E810G	possibly damaging	Het
E2f5	T	A	3: 14,587,356	I84N	probably damaging	Het
Eif2ak4	A	T	2: 118,461,757	K1185*	probably null	Het
Eif4ebp1	T	A	8: 27,275,101	M115K	probably damaging	Het
Evi5	A	T	5: 107,799,139	L505*	probably null	Het
Fbxw25	T	A	9: 109,652,856	Y254F	possibly damaging	Het
Gm7964	T	A	7: 83,757,352	F439Y	possibly damaging	Het
Gps1	A	G	11: 120,785,826	T124A	probably damaging	Het
Hopx	T	C	5: 77,117,616		probably benign	Het
Hoxd3	A	G	2: 74,744,276	S89G	possibly damaging	Het
Hrc	A	T	7: 45,336,214	D263V	probably damaging	Het
Hs6st3	T	C	14: 119,138,476	I21T	probably benign	Het
Izumo4	A	G	10: 80,703,121	Y106C	probably damaging	Het
Lama2	A	T	10: 26,990,800		probably null	Het
Lcorl	A	C	5: 45,775,420	S123R	probably null	Het
Lgr4	A	T	2: 110,011,928	I729F	probably damaging	Het
Lonp1	T	C	17: 56,615,068	T771A	possibly damaging	Het
Matn3	T	A	12: 8,961,110		probably benign	Het
Mdc1	T	A	17: 35,850,930	S912T	probably benign	Het
Mgam	G	A	6: 40,664,880	V556I	probably benign	Het
Myom2	A	T	8: 15,085,263	I489F	possibly damaging	Het
Nfatc2	G	A	2: 168,504,459	T905I	possibly damaging	Het
Nme6	G	A	9: 109,835,341	R6Q	probably damaging	Het
Nr1h5	A	G	3: 102,947,817	S323P	probably damaging	Het
Nr4a3	C	A	4: 48,056,539	R364S	probably damaging	Het
Obox7	A	T	7: 14,664,398	D79V	probably damaging	Het
Olfr167	G	A	16: 19,514,836	P267S	probably damaging	Het
Olfr374	G	A	8: 72,109,854	G96D	probably benign	Het
Olfr435	T	A	6: 43,201,980	V112D	possibly damaging	Het
Pan2	T	C	10: 128,320,413	V1171A	probably damaging	Het
Parp8	T	A	13: 116,910,913	I208F	probably damaging	Het
Pdgfc	C	T	3: 81,209,245	T302I	probably damaging	Het
Pnpt1	A	G	11: 29,141,256	I337V	probably benign	Het
Polk	T	C	13: 96,489,228	E436G	probably damaging	Het
Rplp2	T	C	7: 141,448,781		probably benign	Het
Sec23ip	T	A	7: 128,766,273	S670T	probably damaging	Het
Sgk2	A	G	2: 163,004,160	N207S	probably benign	Het
Sh2d2a	C	T	3: 87,851,816	Q242*	probably null	Het
Sh3pxd2b	A	C	11: 32,422,138	N435T	probably damaging	Het
Slc36a4	T	A	9: 15,734,210	V311D	probably damaging	Het
Stx17	G	A	4: 48,181,553	V241M	probably benign	Het
Taok3	A	T	5: 117,265,924	K721N	probably damaging	Het
Tbxas1	A	G	6: 38,948,641		probably benign	Het
Tmem87a	G	A	2: 120,374,504	A377V	probably benign	Het
Topaz1	C	T	9: 122,747,362	T6M	unknown	Het
Tspan8	A	G	10: 115,844,130	I217V	probably benign	Het
Vmn2r125	A	G	4: 156,354,591		probably null	Het
Vmn2r5	C	T	3: 64,504,221	E309K	probably damaging	Het
Wdr59	A	T	8: 111,458,638	C888S	probably benign	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
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
R7246:Pramel7	UTSW	2	87492165	missense	probably damaging	1.00
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'- GTCCTTGTTCCAAAGGTGCG -3'
(R):5'- ATGCTTCCTTAGATATGCAGGATGAG -3'

Sequencing Primer
(F):5'- TTCCAAAGGTGCGTACTAGC -3'
(R):5'- GAGACTACTTAGTAGGAACTTTGCC -3'

Posted On

2014-08-25