Mutagenetix > Incidental Mutation

Incidental Mutation 'R0963:Pramel24'

81354

Institutional Source

Beutler Lab

Gene Symbol

Pramel24

Ensembl Gene

ENSMUSG00000046435

Gene Name

PRAME like 24

Synonyms

Gm13078

MMRRC Submission

039092-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R0963 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143446025-143455728 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 143453678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 262 (I262N)

Ref Sequence

ENSEMBL: ENSMUSP00000077761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078695]

AlphaFold

A2AGW8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078695
AA Change: I262N

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000077761
Gene: ENSMUSG00000046435
AA Change: I262N

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	204	412	4e-12	SMART

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.1%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb2	A	G	13: 8,722,451 (GRCm39)	D369G	probably damaging	Het
Adcy7	T	C	8: 89,038,893 (GRCm39)	V303A	probably damaging	Het
Afap1l1	A	T	18: 61,870,001 (GRCm39)	Y610N	probably damaging	Het
Agr3	T	A	12: 35,984,433 (GRCm39)	H53Q	probably benign	Het
Akr1d1	A	G	6: 37,507,209 (GRCm39)	I10M	probably damaging	Het
Atp4b	G	T	8: 13,440,014 (GRCm39)	H111N	probably benign	Het
Bbs7	G	T	3: 36,667,412 (GRCm39)	A8E	probably benign	Het
Bsn	C	T	9: 107,989,006 (GRCm39)	V2249M	possibly damaging	Het
Cpt1a	T	C	19: 3,431,634 (GRCm39)	S685P	probably damaging	Het
Dhx57	A	T	17: 80,582,956 (GRCm39)	H163Q	probably benign	Het
Duox2	A	C	2: 122,117,653 (GRCm39)	C894G	probably benign	Het
Ecm1	T	C	3: 95,643,900 (GRCm39)	T209A	possibly damaging	Het
Glo1	T	C	17: 30,819,085 (GRCm39)	N79S	probably benign	Het
Htra1	T	A	7: 130,584,009 (GRCm39)	M388K	possibly damaging	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Jag2	C	T	12: 112,878,934 (GRCm39)	E496K	probably damaging	Het
Kcnh2	C	T	5: 24,527,670 (GRCm39)	R894H	probably damaging	Het
Khdc1c	A	G	1: 21,439,833 (GRCm39)	N128S	probably benign	Het
Lamc1	T	C	1: 153,119,132 (GRCm39)	N829S	probably benign	Het
Leprotl1	T	C	8: 34,606,189 (GRCm39)	Y33C	probably damaging	Het
Lypd11	A	T	7: 24,423,047 (GRCm39)	D90E	probably benign	Het
Map3k3	T	A	11: 106,014,618 (GRCm39)	S130T	probably benign	Het
Mip	C	T	10: 128,061,854 (GRCm39)	A35V	probably benign	Het
Ms4a19	T	C	19: 11,118,921 (GRCm39)	T63A	possibly damaging	Het
Myh15	A	G	16: 48,952,512 (GRCm39)	R861G	probably damaging	Het
Myom1	A	C	17: 71,384,762 (GRCm39)	I718L	possibly damaging	Het
Naip6	C	T	13: 100,452,983 (GRCm39)	R26H	probably benign	Het
Or52e4	G	A	7: 104,706,179 (GRCm39)	C242Y	probably damaging	Het
Pde6b	A	G	5: 108,578,534 (GRCm39)	E824G	probably benign	Het
Rbm19	T	G	5: 120,268,799 (GRCm39)	S476A	possibly damaging	Het
Rpl39l	T	A	16: 9,992,162 (GRCm39)		probably null	Het
Sec24b	A	G	3: 129,834,554 (GRCm39)	S79P	probably benign	Het
Slc15a2	G	A	16: 36,594,935 (GRCm39)	A146V	probably damaging	Het
Slmap	T	C	14: 26,189,675 (GRCm39)	Y161C	probably damaging	Het
Smc4	T	A	3: 68,933,259 (GRCm39)	C652S	probably damaging	Het
Stab1	A	G	14: 30,869,231 (GRCm39)	I1499T	probably damaging	Het
Tnnt1	A	G	7: 4,510,594 (GRCm39)	L209P	probably damaging	Het
Trim52	T	G	14: 106,344,973 (GRCm39)	S210R	probably benign	Het
Tsc22d1	T	A	14: 76,656,039 (GRCm39)	N82K	possibly damaging	Het
Wdr75	T	C	1: 45,856,470 (GRCm39)	Y498H	probably benign	Het
Zfp955a	C	T	17: 33,462,726 (GRCm39)	S56N	probably benign	Het

Other mutations in Pramel24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00976:Pramel24	APN	4	143,453,585 (GRCm39)	missense	probably damaging	1.00
IGL01122:Pramel24	APN	4	143,454,971 (GRCm39)	missense	probably benign	0.13
IGL02314:Pramel24	APN	4	143,455,012 (GRCm39)	missense	probably benign	0.00
IGL03089:Pramel24	APN	4	143,452,703 (GRCm39)	missense	probably benign	0.43
IGL03338:Pramel24	APN	4	143,453,312 (GRCm39)	missense	probably benign	0.01
R0233:Pramel24	UTSW	4	143,452,633 (GRCm39)	missense	possibly damaging	0.71
R0233:Pramel24	UTSW	4	143,452,633 (GRCm39)	missense	possibly damaging	0.71
R0349:Pramel24	UTSW	4	143,453,629 (GRCm39)	missense	probably benign	0.00
R0681:Pramel24	UTSW	4	143,454,622 (GRCm39)	missense	probably benign
R1114:Pramel24	UTSW	4	143,453,425 (GRCm39)	missense	probably benign	0.01
R2070:Pramel24	UTSW	4	143,453,472 (GRCm39)	nonsense	probably null
R2475:Pramel24	UTSW	4	143,453,395 (GRCm39)	missense	probably benign	0.14
R3824:Pramel24	UTSW	4	143,453,255 (GRCm39)	missense	probably benign	0.00
R4050:Pramel24	UTSW	4	143,453,692 (GRCm39)	missense	probably benign	0.01
R4125:Pramel24	UTSW	4	143,452,850 (GRCm39)	nonsense	probably null
R4273:Pramel24	UTSW	4	143,453,416 (GRCm39)	nonsense	probably null
R4280:Pramel24	UTSW	4	143,452,592 (GRCm39)	missense	possibly damaging	0.94
R4921:Pramel24	UTSW	4	143,454,896 (GRCm39)	missense	possibly damaging	0.95
R5223:Pramel24	UTSW	4	143,454,591 (GRCm39)	missense	probably benign	0.00
R7256:Pramel24	UTSW	4	143,452,849 (GRCm39)	missense	probably benign	0.23
R7640:Pramel24	UTSW	4	143,453,276 (GRCm39)	missense	probably benign	0.00
R7666:Pramel24	UTSW	4	143,455,085 (GRCm39)	missense	probably benign	0.00
R7683:Pramel24	UTSW	4	143,453,284 (GRCm39)	nonsense	probably null
R7981:Pramel24	UTSW	4	143,453,452 (GRCm39)	missense	probably benign	0.01
R8856:Pramel24	UTSW	4	143,453,303 (GRCm39)	missense	probably benign	0.33
R9050:Pramel24	UTSW	4	143,453,329 (GRCm39)	missense	probably benign	0.03
R9739:Pramel24	UTSW	4	143,454,997 (GRCm39)	missense	possibly damaging	0.94
R9757:Pramel24	UTSW	4	143,454,992 (GRCm39)	missense	probably benign	0.00
Z1088:Pramel24	UTSW	4	143,453,603 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCTGCCTATGACCCACTGGATG -3'
(R):5'- AGTTAACACTGGCTGTGAGCCAC -3'

Sequencing Primer
(F):5'- ACCCACTGGATGTTCTGAAG -3'
(R):5'- CTGGCTGTGAGCCACTATATAATC -3'

Posted On

2013-11-07