Mutagenetix > Incidental Mutation

Incidental Mutation 'R1114:Pramel24'

97020

Institutional Source

Beutler Lab

Gene Symbol

Pramel24

Ensembl Gene

ENSMUSG00000046435

Gene Name

PRAME like 24

Synonyms

Gm13078

MMRRC Submission

039187-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R1114 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143446025-143455728 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143453425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 178 (I178V)

Ref Sequence

ENSEMBL: ENSMUSP00000077761 (fasta)

Gene Model

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

AlphaFold

A2AGW8

Predicted Effect

probably benign
Transcript: ENSMUST00000078695
AA Change: I178V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000077761
Gene: ENSMUSG00000046435
AA Change: I178V

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.5%
20x: 84.2%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700128F08Rik	T	A	9: 8,222,179 (GRCm39)		noncoding transcript	Het
Acss3	T	A	10: 106,824,740 (GRCm39)	R422S	possibly damaging	Het
Asb15	G	A	6: 24,567,176 (GRCm39)	R499H	probably damaging	Het
Aspm	C	T	1: 139,389,662 (GRCm39)		probably benign	Het
Camk2d	G	A	3: 126,633,941 (GRCm39)	V488M	probably damaging	Het
Cd247	A	G	1: 165,616,407 (GRCm39)	K4E	probably benign	Het
Cdh20	A	G	1: 104,906,739 (GRCm39)	D522G	probably damaging	Het
Cse1l	T	A	2: 166,783,123 (GRCm39)		probably benign	Het
Dctn2	T	A	10: 127,114,011 (GRCm39)		probably null	Het
Dpy19l1	A	T	9: 24,336,072 (GRCm39)	F545I	probably benign	Het
Dpy19l4	A	G	4: 11,287,643 (GRCm39)		probably benign	Het
Dsg4	A	T	18: 20,599,540 (GRCm39)	T719S	possibly damaging	Het
Dusp12	A	C	1: 170,708,586 (GRCm39)	V48G	probably damaging	Het
Efcab7	A	T	4: 99,735,452 (GRCm39)	R159*	probably null	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fbxw20	A	G	9: 109,052,550 (GRCm39)	V261A	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Inpp5j	C	A	11: 3,444,814 (GRCm39)	R953L	possibly damaging	Het
Itprid2	A	G	2: 79,487,873 (GRCm39)	E652G	probably damaging	Het
Lrrk2	C	T	15: 91,584,671 (GRCm39)	R363*	probably null	Het
Ltbp1	A	G	17: 75,667,770 (GRCm39)	D1089G	probably benign	Het
Luc7l	T	C	17: 26,494,832 (GRCm39)		probably benign	Het
Mdn1	G	A	4: 32,746,568 (GRCm39)		probably null	Het
Mgat4a	A	T	1: 37,503,487 (GRCm39)		probably benign	Het
Mmp12	A	G	9: 7,358,289 (GRCm39)	T392A	possibly damaging	Het
Nlrp12	A	G	7: 3,277,166 (GRCm39)	V921A	probably benign	Het
Or5m5	A	T	2: 85,814,651 (GRCm39)	I156F	probably benign	Het
Or5t7	G	A	2: 86,507,629 (GRCm39)	T16I	possibly damaging	Het
Or6c8b	T	A	10: 128,882,711 (GRCm39)	I74F	possibly damaging	Het
Pkd2l1	T	C	19: 44,179,983 (GRCm39)		probably benign	Het
Rictor	C	A	15: 6,823,486 (GRCm39)	C1554*	probably null	Het
Ryr2	A	G	13: 11,960,867 (GRCm39)	C24R	probably damaging	Het
Scamp2	T	A	9: 57,488,863 (GRCm39)	I188N	probably damaging	Het
Smg1	A	T	7: 117,759,013 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Synrg	C	A	11: 83,914,262 (GRCm39)		probably benign	Het
Syt9	G	T	7: 107,024,562 (GRCm39)	V152F	possibly damaging	Het
Trmt2a	A	G	16: 18,068,304 (GRCm39)		probably benign	Het
Vmn2r100	T	C	17: 19,752,261 (GRCm39)	I831T	probably damaging	Het
Vps13a	G	T	19: 16,727,515 (GRCm39)	H196N	probably benign	Het
Xdh	T	C	17: 74,248,144 (GRCm39)		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
R0963:Pramel24	UTSW	4	143,453,678 (GRCm39)	missense	possibly damaging	0.50
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'- TGTCTTTGGCAAGAACCAACCAGTG -3'
(R):5'- TCCAGGCGTTCAGTCAGGAAGTAG -3'

Sequencing Primer
(F):5'- AGTGGGAAATCATCCCATCC -3'
(R):5'- GATCTCTGTAACAATACGGGCTTC -3'

Posted On

2014-01-05