Mutagenetix > Incidental Mutation

Incidental Mutation 'R6821:Pramel23'

537613

Institutional Source

Beutler Lab

Gene Symbol

Pramel23

Ensembl Gene

ENSMUSG00000070617

Gene Name

PRAME like 23

Synonyms

Gm13089

MMRRC Submission

044933-MU

Accession Numbers

Essential gene?

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

Stock #

R6821 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143423070-143429281 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 143425874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 23 (L23*)

Ref Sequence

ENSEMBL: ENSMUSP00000073224 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073532]

AlphaFold

A2AGW7

Predicted Effect

probably null
Transcript: ENSMUST00000073532
AA Change: L23*

SMART Domains

Protein: ENSMUSP00000073224
Gene: ENSMUSG00000070617
AA Change: L23*

Domain	Start	End	E-Value	Type
low complexity region	204	216	N/A	INTRINSIC
low complexity region	331	343	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,277,268 (GRCm39)	I417T	probably benign	Het
Adamts12	A	C	15: 11,152,134 (GRCm39)	K208T	probably benign	Het
Adamts8	T	A	9: 30,867,922 (GRCm39)	L582Q	probably benign	Het
Aim2	C	G	1: 173,291,546 (GRCm39)	T317R	probably damaging	Het
Ano9	A	T	7: 140,687,169 (GRCm39)	F357I	possibly damaging	Het
Aox3	T	C	1: 58,189,547 (GRCm39)	V416A	probably benign	Het
Arhgap21	A	C	2: 20,853,659 (GRCm39)	F1901C	probably benign	Het
Atp8b2	A	T	3: 89,855,480 (GRCm39)	F506I	probably damaging	Het
Atp9b	A	T	18: 80,890,463 (GRCm39)	L292H	probably damaging	Het
C2cd5	A	G	6: 142,963,712 (GRCm39)	V891A	probably damaging	Het
Ccnt2	T	C	1: 127,731,072 (GRCm39)	S650P	probably damaging	Het
Cdhr3	T	A	12: 33,085,044 (GRCm39)	N791Y	probably damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
D630003M21Rik	A	C	2: 158,046,694 (GRCm39)	L761R	probably damaging	Het
Draxin	G	T	4: 148,200,148 (GRCm39)	Q101K	possibly damaging	Het
Dtx3l	A	T	16: 35,753,430 (GRCm39)	L392Q	probably damaging	Het
Eif3d	A	G	15: 77,845,855 (GRCm39)	S389P	possibly damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Epha4	T	C	1: 77,359,582 (GRCm39)	N757S	possibly damaging	Het
Fam228b	T	C	12: 4,813,083 (GRCm39)	I96V	probably benign	Het
Gars1	A	G	6: 55,056,323 (GRCm39)	E728G	probably benign	Het
Gldn	T	C	9: 54,246,054 (GRCm39)	M535T	probably benign	Het
Gm47985	A	G	1: 151,058,787 (GRCm39)	T143A	possibly damaging	Het
Gpr6	T	C	10: 40,947,004 (GRCm39)	T193A	probably benign	Het
Grik5	C	T	7: 24,745,780 (GRCm39)	R431Q	possibly damaging	Het
Hecw1	T	A	13: 14,438,719 (GRCm39)	Y1315F	probably damaging	Het
Hs3st2	A	G	7: 121,099,745 (GRCm39)	D197G	possibly damaging	Het
Igsf9	T	C	1: 172,312,060 (GRCm39)	I2T	probably benign	Het
Ints9	A	G	14: 65,274,907 (GRCm39)	E621G	probably benign	Het
Itm2b	G	A	14: 73,603,907 (GRCm39)	P47S	probably benign	Het
Map10	A	G	8: 126,397,138 (GRCm39)	K177R	probably benign	Het
Mdh2	T	C	5: 135,818,525 (GRCm39)	F260S	possibly damaging	Het
Mtmr11	A	G	3: 96,077,723 (GRCm39)	T573A	probably benign	Het
Mycbp2	A	T	14: 103,376,845 (GRCm39)	I3812N	probably damaging	Het
Myo15a	A	G	11: 60,415,301 (GRCm39)	N3403S	probably damaging	Het
Nvl	G	A	1: 180,954,535 (GRCm39)	Q343*	probably null	Het
Ocstamp	A	T	2: 165,239,842 (GRCm39)	S115T	probably benign	Het
Or51ai2	A	T	7: 103,586,793 (GRCm39)	I69F	probably benign	Het
Otoa	G	A	7: 120,692,070 (GRCm39)		probably null	Het
Pcdhb20	A	T	18: 37,639,175 (GRCm39)	N567I	probably damaging	Het
Pgm5	A	T	19: 24,839,011 (GRCm39)	V48E	possibly damaging	Het
Phlpp1	T	A	1: 106,314,174 (GRCm39)	S1182R	probably damaging	Het
Pik3r4	T	A	9: 105,527,805 (GRCm39)	L386Q	probably damaging	Het
Pop1	A	G	15: 34,508,785 (GRCm39)	K287E	possibly damaging	Het
Rad54b	A	G	4: 11,612,777 (GRCm39)	D803G	probably damaging	Het
Rbm26	G	A	14: 105,354,400 (GRCm39)		probably benign	Het
Rspry1	C	T	8: 95,362,059 (GRCm39)	Q113*	probably null	Het
Siah2	T	A	3: 58,599,191 (GRCm39)	S16C	probably benign	Het
Sirpa	C	A	2: 129,472,017 (GRCm39)	D481E	probably damaging	Het
Slc38a7	A	C	8: 96,571,548 (GRCm39)	D227E	probably benign	Het
Smc5	A	G	19: 23,220,151 (GRCm39)	V438A	probably benign	Het
Spast	A	G	17: 74,658,957 (GRCm39)	E108G	probably benign	Het
Speg	A	G	1: 75,394,547 (GRCm39)	E1752G	possibly damaging	Het
Tanc2	T	G	11: 105,777,316 (GRCm39)		probably null	Het
Tgfbi	T	C	13: 56,773,950 (GRCm39)	I243T	possibly damaging	Het
Tlr12	T	C	4: 128,510,685 (GRCm39)	S522G	possibly damaging	Het
Trav14-3	A	G	14: 54,000,929 (GRCm39)	I47V	probably benign	Het
Tsc22d4	T	C	5: 137,760,906 (GRCm39)	V109A	possibly damaging	Het
Ttl	G	A	2: 128,910,835 (GRCm39)	R73H	probably damaging	Het
Usp34	C	T	11: 23,317,491 (GRCm39)	T850I	possibly damaging	Het
Vdac3	T	C	8: 23,070,491 (GRCm39)	Y140C	probably damaging	Het
Vmn2r120	T	C	17: 57,843,659 (GRCm39)	R62G	probably benign	Het
Vmn2r17	T	A	5: 109,577,331 (GRCm39)	Y461N	probably damaging	Het
Wt1	T	A	2: 105,002,612 (GRCm39)	F493I	probably damaging	Het

Other mutations in Pramel23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01720:Pramel23	APN	4	143,423,410 (GRCm39)	utr 3 prime	probably benign
IGL02087:Pramel23	APN	4	143,423,644 (GRCm39)	missense	probably damaging	0.96
IGL02296:Pramel23	APN	4	143,425,051 (GRCm39)	nonsense	probably null
IGL02902:Pramel23	APN	4	143,424,913 (GRCm39)	missense	probably damaging	1.00
IGL02903:Pramel23	APN	4	143,425,736 (GRCm39)	missense	probably benign	0.04
IGL02962:Pramel23	APN	4	143,423,910 (GRCm39)	missense	probably benign	0.28
IGL03351:Pramel23	APN	4	143,423,658 (GRCm39)	missense	possibly damaging	0.80
R0122:Pramel23	UTSW	4	143,424,974 (GRCm39)	missense	probably benign	0.44
R0533:Pramel23	UTSW	4	143,424,590 (GRCm39)	nonsense	probably null
R0609:Pramel23	UTSW	4	143,425,073 (GRCm39)	missense	probably benign	0.00
R0743:Pramel23	UTSW	4	143,425,134 (GRCm39)	missense	probably damaging	0.97
R0744:Pramel23	UTSW	4	143,425,056 (GRCm39)	missense	probably benign	0.19
R0833:Pramel23	UTSW	4	143,425,056 (GRCm39)	missense	probably benign	0.19
R1052:Pramel23	UTSW	4	143,423,477 (GRCm39)	missense	possibly damaging	0.81
R1690:Pramel23	UTSW	4	143,424,693 (GRCm39)	missense	probably benign	0.03
R1764:Pramel23	UTSW	4	143,424,840 (GRCm39)	missense	probably benign	0.14
R1896:Pramel23	UTSW	4	143,424,714 (GRCm39)	missense	probably benign	0.11
R2084:Pramel23	UTSW	4	143,425,920 (GRCm39)	missense	probably damaging	1.00
R2178:Pramel23	UTSW	4	143,424,612 (GRCm39)	missense	possibly damaging	0.95
R2888:Pramel23	UTSW	4	143,423,460 (GRCm39)	missense	probably benign	0.00
R3759:Pramel23	UTSW	4	143,423,721 (GRCm39)	missense	probably damaging	1.00
R4193:Pramel23	UTSW	4	143,424,903 (GRCm39)	missense	probably damaging	1.00
R4380:Pramel23	UTSW	4	143,424,856 (GRCm39)	missense	probably benign	0.21
R4385:Pramel23	UTSW	4	143,424,584 (GRCm39)	critical splice donor site	probably null
R4513:Pramel23	UTSW	4	143,424,718 (GRCm39)	missense	probably benign	0.00
R4647:Pramel23	UTSW	4	143,425,914 (GRCm39)	missense	probably benign	0.00
R4920:Pramel23	UTSW	4	143,425,853 (GRCm39)	missense	probably benign	0.05
R4994:Pramel23	UTSW	4	143,424,939 (GRCm39)	missense	possibly damaging	0.94
R5197:Pramel23	UTSW	4	143,424,632 (GRCm39)	missense	possibly damaging	0.86
R6005:Pramel23	UTSW	4	143,425,002 (GRCm39)	missense	probably benign	0.00
R6073:Pramel23	UTSW	4	143,424,838 (GRCm39)	missense	probably damaging	0.99
R6197:Pramel23	UTSW	4	143,423,886 (GRCm39)	missense	possibly damaging	0.90
R6264:Pramel23	UTSW	4	143,425,722 (GRCm39)	missense	possibly damaging	0.50
R6923:Pramel23	UTSW	4	143,425,676 (GRCm39)	missense	probably benign	0.06
R7034:Pramel23	UTSW	4	143,423,898 (GRCm39)	missense	probably damaging	1.00
R7140:Pramel23	UTSW	4	143,425,002 (GRCm39)	missense	probably benign	0.01
R7298:Pramel23	UTSW	4	143,425,075 (GRCm39)	missense	probably benign	0.23
R7529:Pramel23	UTSW	4	143,429,244 (GRCm39)
R7766:Pramel23	UTSW	4	143,425,809 (GRCm39)	missense	probably damaging	0.98
R7774:Pramel23	UTSW	4	143,423,676 (GRCm39)	missense	possibly damaging	0.89
R7816:Pramel23	UTSW	4	143,424,764 (GRCm39)	missense	probably benign	0.00
R8137:Pramel23	UTSW	4	143,425,835 (GRCm39)	missense	probably damaging	1.00
R8937:Pramel23	UTSW	4	143,423,562 (GRCm39)	missense	probably damaging	1.00
R8982:Pramel23	UTSW	4	143,424,886 (GRCm39)	missense	probably benign	0.01
R9016:Pramel23	UTSW	4	143,423,899 (GRCm39)	missense	possibly damaging	0.76
R9100:Pramel23	UTSW	4	143,425,727 (GRCm39)	missense	probably benign	0.04
R9200:Pramel23	UTSW	4	143,423,856 (GRCm39)	missense	possibly damaging	0.90
R9257:Pramel23	UTSW	4	143,425,685 (GRCm39)	missense	probably damaging	1.00
R9471:Pramel23	UTSW	4	143,423,749 (GRCm39)	missense	probably damaging	1.00
R9517:Pramel23	UTSW	4	143,424,930 (GRCm39)	missense	possibly damaging	0.95
Z1088:Pramel23	UTSW	4	143,424,650 (GRCm39)	missense	probably benign
Z1176:Pramel23	UTSW	4	143,423,515 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTGGAATGCACCACTTTTG -3'
(R):5'- AGTAATCTAGCCCTCATACGTCC -3'

Sequencing Primer
(F):5'- ATCTATTTCCTGAAGAACAGCCTTC -3'
(R):5'- CCTGAGTGGACCAAAAGGCTTC -3'

Posted On

2018-10-18