Mutagenetix > Incidental Mutation

Incidental Mutation 'R5024:Pramef20'

391212

Institutional Source

Beutler Lab

Gene Symbol

Pramef20

Ensembl Gene

ENSMUSG00000073721

Gene Name

PRAME family member 20

Synonyms

Gm13125, EG627009

MMRRC Submission

042615-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5024 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144372760-144377933 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 144373308 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 296 (E296*)

Ref Sequence

ENSEMBL: ENSMUSP00000112488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121109]

AlphaFold

B1ARV6

Predicted Effect

probably null
Transcript: ENSMUST00000121109
AA Change: E296*

SMART Domains

Protein: ENSMUSP00000112488
Gene: ENSMUSG00000073721
AA Change: E296*

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	222	409	1e-11	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

99% (95/96)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	A	G	5: 129,171,895	N575S	probably damaging	Het
Akap6	C	T	12: 53,142,562	T2253M	probably benign	Het
Arhgef37	A	C	18: 61,506,440	N289K	probably damaging	Het
Armc4	T	C	18: 7,088,555	M1005V	probably benign	Het
Atad2b	A	C	12: 4,937,534	T121P	probably benign	Het
Atp4a	A	C	7: 30,715,864	D303A	possibly damaging	Het
BC005561	A	G	5: 104,522,258	K1549E	possibly damaging	Het
Calu	A	T	6: 29,374,519		probably benign	Het
Ccdc141	A	C	2: 77,054,703	N531K	probably benign	Het
Ccdc146	T	C	5: 21,399,614		probably null	Het
Cd207	G	A	6: 83,674,319	T218I	probably damaging	Het
Cd2ap	A	C	17: 42,805,345		probably null	Het
Clip3	G	A	7: 30,292,219		probably benign	Het
Clstn1	G	A	4: 149,635,294	R432H	possibly damaging	Het
Csmd2	A	G	4: 128,321,348	Y521C	possibly damaging	Het
Dnah8	A	T	17: 30,736,096	E2033V	probably damaging	Het
Eng	T	G	2: 32,673,392	V319G	probably benign	Het
Erp44	C	T	4: 48,241,296	W57*	probably null	Het
Etv1	T	A	12: 38,854,234		probably null	Het
Eva1c	T	C	16: 90,876,193		probably null	Het
Fam196a	A	G	7: 134,918,478	S108P	probably damaging	Het
Fam221b	T	A	4: 43,659,674	N482I	probably damaging	Het
Fam83h	T	C	15: 76,005,142	H202R	probably damaging	Het
Fbxw13	T	C	9: 109,179,335	T449A	probably benign	Het
Fbxw25	A	T	9: 109,663,374		probably null	Het
Frmd3	T	A	4: 74,098,144	S99T	probably benign	Het
Gm5155	A	G	7: 17,910,682	I575V	probably benign	Het
Gm5174	G	T	10: 86,656,587		noncoding transcript	Het
Gm6904	T	C	14: 59,258,483		probably null	Het
Gm815	C	T	19: 26,887,775	Q49*	probably null	Het
H2-DMa	A	T	17: 34,138,487	I245F	possibly damaging	Het
Herc1	A	T	9: 66,470,326	K3458M	possibly damaging	Het
Hirip3	A	G	7: 126,864,489		probably null	Het
Hjurp	A	T	1: 88,275,050	Y71N	possibly damaging	Het
Hmcn1	T	A	1: 150,680,688	E2449V	possibly damaging	Het
Igll1	G	T	16: 16,863,793	H33N	probably benign	Het
Il6	T	C	5: 30,019,514	L184P	probably damaging	Het
Impg2	T	A	16: 56,260,100	S756T	probably damaging	Het
Kank4	T	G	4: 98,785,661	D5A	probably damaging	Het
Kcna7	G	A	7: 45,406,591	R77H	probably damaging	Het
Kcns2	A	T	15: 34,839,537	T349S	probably benign	Het
Keap1	A	G	9: 21,237,226	Y162H	probably damaging	Het
Kif9	T	C	9: 110,483,093	F10L	possibly damaging	Het
Klhdc8b	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	9: 108,448,985		probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lpar6	A	G	14: 73,239,369	T257A	probably damaging	Het
Lpin1	A	T	12: 16,554,006	L608Q	probably benign	Het
Lyst	T	C	13: 13,634,404	S220P	probably benign	Het
M1ap	A	G	6: 83,028,358		probably benign	Het
Mbd6	C	T	10: 127,286,441	V173I	probably benign	Het
Myo5b	A	T	18: 74,716,034	T1115S	possibly damaging	Het
Mysm1	C	A	4: 94,951,016	V683F	possibly damaging	Het
Nlrp4g	T	A	9: 124,350,155		noncoding transcript	Het
Olfr1040	G	T	2: 86,146,533	A67E	probably damaging	Het
Olfr1062	C	T	2: 86,423,461	G72S	possibly damaging	Het
Olfr292	A	T	7: 86,694,881	M142L	probably benign	Het
Olfr318	T	A	11: 58,720,950	I33F	probably benign	Het
Otud6b	T	A	4: 14,826,293	Q34L	probably damaging	Het
Parp11	C	T	6: 127,471,636	T72I	probably damaging	Het
Pbx1	T	A	1: 168,183,589	D343V	possibly damaging	Het
Ppp1r12b	G	T	1: 134,955,733	A17E	probably benign	Het
Ranbp9	A	T	13: 43,434,855	I67N	probably damaging	Het
Rasgrp4	A	G	7: 29,148,407	E414G	probably damaging	Het
Rbbp5	A	G	1: 132,490,488	H15R	possibly damaging	Het
Scd2	A	G	19: 44,301,271	Y235C	probably benign	Het
Sdr16c5	C	T	4: 4,010,365	G170S	probably damaging	Het
Sh3bp4	G	T	1: 89,145,595	G722C	probably damaging	Het
Shmt1	A	T	11: 60,797,479		probably benign	Het
Slc12a1	A	G	2: 125,166,137	I206V	probably benign	Het
Slc26a3	A	G	12: 31,453,908	D304G	probably benign	Het
Slc26a7	T	A	4: 14,532,572	D434V	possibly damaging	Het
Slc6a16	G	T	7: 45,259,966	M185I	probably benign	Het
Stat4	A	G	1: 52,082,570	I363V	possibly damaging	Het
Tgfb1i1	G	T	7: 128,248,217	M1I	probably null	Het
Tmem225	T	C	9: 40,149,343	V66A	probably benign	Het
Tmtc4	T	C	14: 122,941,302		probably null	Het
Trpc4	T	A	3: 54,194,796	N38K	probably benign	Het
Ttll12	A	T	15: 83,587,113	Y218N	probably damaging	Het
Ttn	A	T	2: 76,948,425		probably null	Het
Tulp1	A	C	17: 28,351,995	Y178*	probably null	Het
Vmn2r58	A	G	7: 41,864,322	V299A	probably damaging	Het
Washc4	C	A	10: 83,583,336	Q911K	possibly damaging	Het
Wdr3	T	C	3: 100,154,936	D221G	probably benign	Het
Zan	A	T	5: 137,461,893	C1245*	probably null	Het
Zfyve9	A	C	4: 108,691,669	S773A	probably benign	Het

Other mutations in Pramef20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01403:Pramef20	APN	4	144377133	missense	probably benign	0.01
IGL01516:Pramef20	APN	4	144377767	missense	probably damaging	1.00
IGL02655:Pramef20	APN	4	144372846	missense	probably benign	0.05
IGL02983:Pramef20	APN	4	144373127	missense	probably benign	0.24
R0201:Pramef20	UTSW	4	144377273	splice site	probably benign
R1882:Pramef20	UTSW	4	144376915	missense	probably benign	0.03
R4440:Pramef20	UTSW	4	144372867	missense	probably benign
R4805:Pramef20	UTSW	4	144377020	missense	probably benign	0.08
R4823:Pramef20	UTSW	4	144373211	missense	possibly damaging	0.81
R4925:Pramef20	UTSW	4	144377932	start codon destroyed	probably null	1.00
R5472:Pramef20	UTSW	4	144377157	missense	probably benign	0.00
R6133:Pramef20	UTSW	4	144377777	missense	possibly damaging	0.81
R6495:Pramef20	UTSW	4	144376839	missense	probably benign	0.43
R6585:Pramef20	UTSW	4	144377030	missense	possibly damaging	0.87
R6732:Pramef20	UTSW	4	144373173	missense	probably benign	0.20
R7048:Pramef20	UTSW	4	144377184	missense	probably benign	0.15
R7165:Pramef20	UTSW	4	144372819	missense	probably damaging	0.97
R7469:Pramef20	UTSW	4	144373103	missense	probably damaging	1.00
R8873:Pramef20	UTSW	4	144373301	missense	probably benign	0.43
R8891:Pramef20	UTSW	4	144372827	missense	probably damaging	0.99
R8909:Pramef20	UTSW	4	144376983	missense	probably benign	0.06
R9597:Pramef20	UTSW	4	144376956	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCATCTTCAAGGTGACAG -3'
(R):5'- ATGGTGGCAGACGTTAGTACAG -3'

Sequencing Primer
(F):5'- TCTTCAAGGTGACAGTCCTCCAAG -3'
(R):5'- GGCAGACGTTAGTACAGATTTTAG -3'

Posted On

2016-06-06