Mutagenetix > Incidental Mutation

Incidental Mutation 'R0157:Pramel21'

22904

Institutional Source

Beutler Lab

Gene Symbol

Pramel21

Ensembl Gene

ENSMUSG00000066688

Gene Name

PRAME like 21

Synonyms

Gm13083

MMRRC Submission

038437-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R0157 (G1)

Quality Score

205

Status

Validated (trace)

Chromosome

Chromosomal Location

143341573-143345165 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 143342366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 158 (P158S)

Ref Sequence

ENSEMBL: ENSMUSP00000101399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105773]

AlphaFold

A2AGW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000105773
AA Change: P158S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101399
Gene: ENSMUSG00000066688
AA Change: P158S

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	223	431	7e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120556

Meta Mutation Damage Score

0.2749

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 88.5%

Validation Efficiency

64% (47/73)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adap2	T	A	11: 80,056,527 (GRCm39)	I180N	probably damaging	Het
Alk	T	A	17: 72,256,840 (GRCm39)	N673I	probably benign	Het
Ankrd7	T	C	6: 18,866,539 (GRCm39)	S20P	probably damaging	Het
Arhgef26	T	G	3: 62,288,392 (GRCm39)	D487E	probably damaging	Het
Arhgef4	A	G	1: 34,845,475 (GRCm39)	D1500G	probably damaging	Het
Arhgef7	A	G	8: 11,835,812 (GRCm39)	I39V	probably damaging	Het
Asap2	T	A	12: 21,256,326 (GRCm39)	I208N	probably damaging	Het
Atad5	T	C	11: 79,980,643 (GRCm39)	V16A	possibly damaging	Het
Atp2b1	T	C	10: 98,835,809 (GRCm39)	I518T	probably damaging	Het
B130006D01Rik	T	C	11: 95,617,211 (GRCm39)		probably benign	Het
BC028528	A	G	3: 95,792,280 (GRCm39)		probably null	Het
Bpifb6	T	A	2: 153,745,886 (GRCm39)	L74Q	probably benign	Het
Bptf	T	C	11: 106,965,484 (GRCm39)	T1122A	possibly damaging	Het
Cacna2d4	T	A	6: 119,289,385 (GRCm39)	D806E	probably benign	Het
Cdhr3	T	C	12: 33,111,649 (GRCm39)	Q287R	possibly damaging	Het
Cdk12	A	G	11: 98,140,602 (GRCm39)		probably benign	Het
Cenpf	T	A	1: 189,384,556 (GRCm39)	T2575S	probably benign	Het
Chd7	T	A	4: 8,833,759 (GRCm39)	I1171N	probably damaging	Het
Chd9	T	C	8: 91,735,464 (GRCm39)		probably null	Het
Ckmt1	A	G	2: 121,193,522 (GRCm39)	T361A	possibly damaging	Het
Clec4d	G	T	6: 123,244,095 (GRCm39)	R68L	probably benign	Het
Csmd2	G	T	4: 128,415,704 (GRCm39)	V2678F	probably benign	Het
Cul7	T	A	17: 46,964,761 (GRCm39)	V131E	possibly damaging	Het
Dab2	T	C	15: 6,459,308 (GRCm39)	S407P	probably benign	Het
Dnah17	C	T	11: 118,017,997 (GRCm39)	G166D	probably benign	Het
F13b	G	A	1: 139,431,585 (GRCm39)	V52I	probably benign	Het
Gjd4	T	C	18: 9,280,549 (GRCm39)	I176M	probably benign	Het
Hoxc11	A	G	15: 102,863,436 (GRCm39)	Y159C	probably damaging	Het
Hydin	T	C	8: 111,026,642 (GRCm39)	I120T	possibly damaging	Het
Il20rb	A	G	9: 100,355,132 (GRCm39)	Y104H	probably damaging	Het
Krtap21-1	A	G	16: 89,200,430 (GRCm39)	C71R	unknown	Het
Lamc1	T	C	1: 153,138,353 (GRCm39)	D167G	probably benign	Het
Lin7c	C	A	2: 109,725,514 (GRCm39)	A73E	probably damaging	Het
Meiosin	T	C	7: 18,840,945 (GRCm39)	H63R	possibly damaging	Het
Mms22l	C	A	4: 24,588,224 (GRCm39)	A952E	probably damaging	Het
Myh3	A	G	11: 66,973,735 (GRCm39)	N136S	probably benign	Het
Ndufb10	T	C	17: 24,943,218 (GRCm39)	T31A	probably benign	Het
Nlrp2	T	C	7: 5,311,769 (GRCm39)	Y37C	possibly damaging	Het
Or2t44	T	C	11: 58,677,885 (GRCm39)	F275S	probably damaging	Het
Or2y14	T	C	11: 49,404,600 (GRCm39)	I45T	probably damaging	Het
Orc3	C	A	4: 34,607,130 (GRCm39)		probably null	Het
Pard3b	A	C	1: 62,250,792 (GRCm39)	M512L	probably damaging	Het
Pcdh10	A	G	3: 45,334,136 (GRCm39)	D150G	probably damaging	Het
Pcolce	A	T	5: 137,608,741 (GRCm39)		probably null	Het
Pdcl	A	C	2: 37,242,189 (GRCm39)	I187S	probably damaging	Het
Pkn1	T	C	8: 84,419,449 (GRCm39)	I51M	probably damaging	Het
Pla2g4e	T	A	2: 120,000,662 (GRCm39)	T692S	probably benign	Het
Plcb2	C	A	2: 118,549,022 (GRCm39)	V380F	probably damaging	Het
Pmpcb	A	T	5: 21,947,950 (GRCm39)	I218F	probably damaging	Het
Pms1	A	T	1: 53,234,196 (GRCm39)	Y773*	probably null	Het
Polr2e	C	T	10: 79,872,615 (GRCm39)	G184R	probably damaging	Het
Polr3a	T	C	14: 24,529,254 (GRCm39)	I369V	probably damaging	Het
Prpf4b	T	C	13: 35,068,014 (GRCm39)		probably benign	Het
Pzp	G	A	6: 128,500,939 (GRCm39)	Q140*	probably null	Het
Qrich2	T	A	11: 116,332,221 (GRCm39)	E2325V	probably damaging	Het
R3hdm2	T	G	10: 127,307,858 (GRCm39)	L373R	probably damaging	Het
Sema3d	A	T	5: 12,558,104 (GRCm39)	D212V	possibly damaging	Het
Sidt2	A	G	9: 45,850,565 (GRCm39)	I850T	probably damaging	Het
Slc22a29	C	T	19: 8,140,106 (GRCm39)	R433H	possibly damaging	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Sox21	G	A	14: 118,473,354 (GRCm39)		probably benign	Het
Steap3	A	G	1: 120,155,379 (GRCm39)	*527R	probably null	Het
Svep1	T	C	4: 58,069,830 (GRCm39)	E2652G	possibly damaging	Het
Taar2	T	A	10: 23,817,389 (GRCm39)	F310I	probably damaging	Het
Tasor2	C	A	13: 3,625,550 (GRCm39)	V1467L	probably benign	Het
Tecta	A	G	9: 42,286,307 (GRCm39)	V783A	probably benign	Het
Vmn1r173	T	A	7: 23,401,822 (GRCm39)	I19N	probably damaging	Het
Vwa5b1	T	A	4: 138,332,190 (GRCm39)	M276L	probably benign	Het
Yeats2	A	C	16: 20,040,427 (GRCm39)	*142C	probably null	Het
Zfp26	G	T	9: 20,349,166 (GRCm39)	T466K	probably benign	Het
Zfp426	T	C	9: 20,382,432 (GRCm39)	N171S	probably benign	Het

Other mutations in Pramel21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02052:Pramel21	APN	4	143,341,643 (GRCm39)	missense	probably benign	0.00
IGL02390:Pramel21	APN	4	143,341,895 (GRCm39)	missense	probably benign	0.29
IGL02676:Pramel21	APN	4	143,342,667 (GRCm39)	missense	possibly damaging	0.75
IGL03381:Pramel21	APN	4	143,343,625 (GRCm39)	splice site	probably benign
IGL03410:Pramel21	APN	4	143,341,851 (GRCm39)	missense	probably benign	0.02
H8562:Pramel21	UTSW	4	143,341,920 (GRCm39)	splice site	probably benign
PIT4151001:Pramel21	UTSW	4	143,342,722 (GRCm39)	nonsense	probably null
R0352:Pramel21	UTSW	4	143,342,559 (GRCm39)	missense	possibly damaging	0.92
R0494:Pramel21	UTSW	4	143,342,726 (GRCm39)	missense	probably benign	0.33
R0688:Pramel21	UTSW	4	143,343,927 (GRCm39)	missense	probably benign	0.00
R0884:Pramel21	UTSW	4	143,341,754 (GRCm39)	missense	probably benign	0.01
R1267:Pramel21	UTSW	4	143,342,304 (GRCm39)	missense	possibly damaging	0.95
R1418:Pramel21	UTSW	4	143,342,604 (GRCm39)	missense	probably benign	0.15
R1761:Pramel21	UTSW	4	143,342,438 (GRCm39)	missense	probably benign	0.00
R3148:Pramel21	UTSW	4	143,344,047 (GRCm39)	missense	probably benign	0.30
R4063:Pramel21	UTSW	4	143,342,559 (GRCm39)	missense	possibly damaging	0.77
R4115:Pramel21	UTSW	4	143,344,026 (GRCm39)	missense	probably benign	0.06
R4760:Pramel21	UTSW	4	143,343,801 (GRCm39)	missense	probably benign	0.04
R5516:Pramel21	UTSW	4	143,342,253 (GRCm39)	missense	possibly damaging	0.49
R5603:Pramel21	UTSW	4	143,344,066 (GRCm39)	nonsense	probably null
R5724:Pramel21	UTSW	4	143,344,026 (GRCm39)	missense	probably benign	0.06
R5796:Pramel21	UTSW	4	143,341,778 (GRCm39)	missense	probably benign	0.12
R5879:Pramel21	UTSW	4	143,344,161 (GRCm39)	missense	possibly damaging	0.64
R6181:Pramel21	UTSW	4	143,342,828 (GRCm39)	critical splice donor site	probably null
R7155:Pramel21	UTSW	4	143,342,735 (GRCm39)	missense	probably benign	0.01
R7492:Pramel21	UTSW	4	143,342,744 (GRCm39)	missense	not run
R7913:Pramel21	UTSW	4	143,341,615 (GRCm39)	missense	possibly damaging	0.87
R7995:Pramel21	UTSW	4	143,342,570 (GRCm39)	missense	possibly damaging	0.89
R8126:Pramel21	UTSW	4	143,343,635 (GRCm39)	missense	possibly damaging	0.87
R8901:Pramel21	UTSW	4	143,343,677 (GRCm39)	missense	probably benign	0.00
R9061:Pramel21	UTSW	4	143,342,741 (GRCm39)	missense	possibly damaging	0.94
R9095:Pramel21	UTSW	4	143,341,760 (GRCm39)	missense	probably damaging	1.00
R9170:Pramel21	UTSW	4	143,341,600 (GRCm39)	missense	possibly damaging	0.78
R9445:Pramel21	UTSW	4	143,343,795 (GRCm39)	missense	probably damaging	1.00
R9666:Pramel21	UTSW	4	143,341,699 (GRCm39)	missense	probably benign	0.00
Z1088:Pramel21	UTSW	4	143,341,802 (GRCm39)	missense	possibly damaging	0.78
Z1177:Pramel21	UTSW	4	143,342,730 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CTCTACCCCAGCCACTTGAGAAATG -3'
(R):5'- TCATAGGCAGGAATGGCCCCAAAC -3'

Sequencing Primer
(F):5'- GCAGATTACACATTGTGTCTCCTG -3'
(R):5'- CTCCAGCTTCTCACAGATCAC -3'

Posted On

2013-04-16