Mutagenetix > Incidental Mutations

Incidental Mutation 'R7431:Pramel7'

576441

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: 0.106) question?

Stock #

R7431 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87489087-87497093 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87489938 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 337 (V337A)

Ref Sequence

ENSEMBL: ENSMUSP00000026957 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026957
AA Change: V337A

PolyPhen 2 Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000026957
Gene: ENSMUSG00000025839
AA Change: V337A

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

97% (77/79)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921530L21Rik	A	G	14: 95,881,837	H10R	probably benign	Het
4931406P16Rik	T	C	7: 34,284,794	I135V	possibly damaging	Het
Abca9	CA	C	11: 110,127,426		probably null	Het
Abcf3	G	T	16: 20,558,789	R510L	probably benign	Het
Abcg4	T	A	9: 44,274,700	I625F	possibly damaging	Het
Adam22	A	T	5: 8,092,818	S806T	probably damaging	Het
Adcy4	T	C	14: 55,772,672	I718V	probably benign	Het
Adgb	A	T	10: 10,391,955		probably null	Het
Aldoart1	T	A	4: 72,851,441	K377*	probably null	Het
Apc2	T	A	10: 80,302,183	V100E	possibly damaging	Het
Asxl3	T	G	18: 22,516,953	D666E	probably damaging	Het
Atg4c	A	T	4: 99,221,395	I200F	possibly damaging	Het
Atp1a4	A	G	1: 172,250,907	F255L	probably benign	Het
Bod1l	A	C	5: 41,813,120		probably null	Het
Cacna2d4	A	T	6: 119,244,276	T250S	probably damaging	Het
Ccdc114	T	G	7: 45,929,246	L81R	probably damaging	Het
Ccng1	G	A	11: 40,753,918	R51W	possibly damaging	Het
Chd6	T	C	2: 161,026,328	E366G	possibly damaging	Het
Clca4b	A	T	3: 144,911,133	S919T	probably benign	Het
Col5a3	T	C	9: 20,770,835	*1740W	probably null	Het
Col6a5	A	T	9: 105,928,269	I1146K	unknown	Het
Cpxm1	T	C	2: 130,394,046	T399A	probably benign	Het
Cpz	T	C	5: 35,511,142	T375A	probably benign	Het
Cyp2b13	T	A	7: 26,061,551	V11D	probably damaging	Het
Cyp39a1	A	G	17: 43,683,015	T189A	probably benign	Het
Desi2	C	T	1: 178,256,441	Q52*	probably null	Het
Dhx15	A	G	5: 52,162,611	V418A	probably damaging	Het
Dnah3	T	A	7: 120,051,744	M978L	probably damaging	Het
Dpagt1	T	A	9: 44,326,087	C17*	probably null	Het
Dph5	A	T	3: 115,892,732	K52N	possibly damaging	Het
Dpp4	G	T	2: 62,352,238	N566K	probably benign	Het
Elavl4	T	C	4: 110,226,633	Y94C	probably damaging	Het
Fat2	G	A	11: 55,309,101	T1049I	probably damaging	Het
Fat4	T	A	3: 39,009,157	Y4421N	possibly damaging	Het
Fcrls	C	A	3: 87,258,926	A181S	probably damaging	Het
Glg1	G	T	8: 111,160,754	N456K	unknown	Het
Gm10228	A	G	16: 89,041,213	S68P	unknown	Het
Golga4	G	A	9: 118,559,731	E1974K	probably damaging	Het
Heatr9	G	T	11: 83,519,268	P49Q	probably damaging	Het
Hmgxb3	A	T	18: 61,147,445	V662D	probably damaging	Het
Hs3st4	T	C	7: 123,983,290	L37P	probably damaging	Het
Ifi205	A	T	1: 174,028,377	M29K	probably benign	Het
Igkv1-35	C	T	6: 70,011,004	V103M	probably damaging	Het
Klf13	T	A	7: 63,891,756	K208*	probably null	Het
Klhl36	A	G	8: 119,870,382	N274S	probably benign	Het
Mosmo	T	A	7: 120,730,650	L165I	probably benign	Het
Mtcl1	G	A	17: 66,342,906	Q1855*	probably null	Het
Muc16	A	G	9: 18,607,993	V208A		Het
Nin	T	G	12: 70,078,223	R108S		Het
Olfr159	T	C	4: 43,770,882	N43S	probably damaging	Het
Polr1a	G	A	6: 71,926,659	V319I	probably benign	Het
Prkar2b	A	T	12: 31,963,151		probably null	Het
R3hdm2	T	A	10: 127,458,147	M170K	probably benign	Het
Rbm26	A	G	14: 105,117,092	I919T	possibly damaging	Het
Rimkla	A	G	4: 119,477,811	M125T	probably benign	Het
Sag	T	A	1: 87,821,337	F153I	possibly damaging	Het
Sbf2	G	T	7: 110,351,750	D1163E	probably damaging	Het
Scgb2b24	T	C	7: 33,739,249	I13V	probably benign	Het
Scin	G	A	12: 40,133,922	H63Y	probably damaging	Het
Sele	A	G	1: 164,051,620	T275A	probably damaging	Het
Slc22a15	T	A	3: 101,897,940	T144S	probably benign	Het
Slc8a1	T	A	17: 81,441,663	K650I	probably benign	Het
Slc9c1	G	T	16: 45,593,484	V992F	probably damaging	Het
Spag16	A	T	1: 69,923,872	T393S	unknown	Het
Taf15	G	A	11: 83,504,953	D495N	unknown	Het
Tas2r144	T	A	6: 42,215,974	I216N	probably damaging	Het
Tbccd1	G	T	16: 22,825,813	P271Q	probably benign	Het
Tcf4	C	A	18: 69,347,178		probably null	Het
Thap4	A	T	1: 93,750,501	S188T	probably benign	Het
Trank1	T	C	9: 111,362,402	V493A	probably benign	Het
Trip11	A	G	12: 101,884,019	V1262A	possibly damaging	Het
Tspan2	T	A	3: 102,749,791	W35R	probably damaging	Het
Usp39	G	T	6: 72,336,268	T313N	possibly damaging	Het
Vmn2r83	T	A	10: 79,491,472	L638Q	probably damaging	Het
Vps29	T	C	5: 122,354,478	V2A	probably benign	Het
Wrap53	A	G	11: 69,578,487	F148L	possibly damaging	Het
Znfx1	T	C	2: 167,055,792	Y404C	probably damaging	Het
Zrsr1	A	G	11: 22,973,580	E118G	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
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
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
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'- TGGTCAGCTGGCTCAGATTG -3'
(R):5'- CATCCCATGGTCACTCTGAC -3'

Sequencing Primer
(F):5'- TGCGGTGCAAAAAGTTCTCC -3'
(R):5'- TGACCCCAGCCATGTGATC -3'

Posted On

2019-10-07