Mutagenetix > Incidental Mutation

Incidental Mutation 'R9521:Pramel6'

718871

Institutional Source

Beutler Lab

Gene Symbol

Pramel6

Ensembl Gene

ENSMUSG00000025838

Gene Name

PRAME like 6

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R9521 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87336909-87341209 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 87340629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 320 (C320*)

Ref Sequence

ENSEMBL: ENSMUSP00000026956 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026956] [ENSMUST00000111572]

AlphaFold

Q810Y9

Predicted Effect

probably null
Transcript: ENSMUST00000026956
AA Change: C320*

SMART Domains

Protein: ENSMUSP00000026956
Gene: ENSMUSG00000025838
AA Change: C320*

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC
SCOP:d1a4ya_	223	411	5e-8	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000111572
AA Change: C320*

SMART Domains

Protein: ENSMUSP00000107198
Gene: ENSMUSG00000025838
AA Change: C320*

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC
SCOP:d1a4ya_	223	411	5e-8	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,608,778 (GRCm39)		probably null	Het
A030005K14Rik	C	A	1: 83,036,980 (GRCm39)	G17V	unknown	Het
Afap1l1	C	T	18: 61,879,863 (GRCm39)	A336T	probably benign	Het
Akap8	C	T	17: 32,530,036 (GRCm39)	R395H	possibly damaging	Het
Ankrd26	G	A	6: 118,517,420 (GRCm39)	A467V	possibly damaging	Het
Ano9	A	T	7: 140,682,227 (GRCm39)	S683T	probably benign	Het
Aox3	C	A	1: 58,164,222 (GRCm39)	A164E	probably benign	Het
Apc	T	C	18: 34,445,738 (GRCm39)	I878T	probably benign	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Atg9b	T	C	5: 24,593,107 (GRCm39)	N432S	probably benign	Het
Atp1b3	A	G	9: 96,227,911 (GRCm39)	F49L	probably damaging	Het
Cacnb2	A	T	2: 14,609,138 (GRCm39)		probably benign	Het
Ccdc180	T	A	4: 45,916,283 (GRCm39)	L828Q	probably null	Het
Chd3	C	T	11: 69,249,133 (GRCm39)	R748Q	probably benign	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Cldn18	T	A	9: 99,581,028 (GRCm39)		probably null	Het
Cmklr1	C	T	5: 113,752,480 (GRCm39)	V174I	probably benign	Het
Cyp2d22	A	T	15: 82,256,688 (GRCm39)	V362D	probably damaging	Het
Dock10	T	C	1: 80,501,763 (GRCm39)	K1810R	probably damaging	Het
Duox1	T	A	2: 122,159,216 (GRCm39)	V661E	possibly damaging	Het
Ercc2	G	A	7: 19,125,899 (GRCm39)	R518Q	probably damaging	Het
Fam186a	A	G	15: 99,841,471 (GRCm39)	L1591P	probably damaging	Het
Fam186b	G	T	15: 99,178,419 (GRCm39)	D302E	probably benign	Het
Fap	T	C	2: 62,372,500 (GRCm39)	D326G	probably benign	Het
Gm42669	T	A	5: 107,655,892 (GRCm39)	D135E		Het
Keap1	A	T	9: 21,143,136 (GRCm39)	V463E	probably damaging	Het
Mga	T	C	2: 119,794,979 (GRCm39)	S2888P	probably damaging	Het
Mgam	A	G	6: 40,722,118 (GRCm39)	D403G	probably damaging	Het
Mios	C	T	6: 8,233,171 (GRCm39)	T773I	probably benign	Het
Nav3	T	C	10: 109,835,845 (GRCm39)	D79G	possibly damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or52d3	A	G	7: 104,228,855 (GRCm39)	M1V	probably null	Het
Or8k35	C	A	2: 86,424,771 (GRCm39)	V134F		Het
Orc6	T	C	8: 86,026,615 (GRCm39)	V20A	possibly damaging	Het
Peli2	A	G	14: 48,490,052 (GRCm39)	K175E	probably benign	Het
Plec	C	G	15: 76,062,924 (GRCm39)	R2382P	possibly damaging	Het
Ppp1r12b	T	A	1: 134,705,063 (GRCm39)	D875V	probably damaging	Het
Qrich2	A	T	11: 116,339,208 (GRCm39)	M26K	probably damaging	Het
Rapgef1	A	G	2: 29,624,291 (GRCm39)	I1006V	probably benign	Het
Rasgrp3	T	A	17: 75,821,158 (GRCm39)	L455Q	probably null	Het
Scaf8	C	T	17: 3,248,285 (GRCm39)	R1203W	probably damaging	Het
Senp6	C	T	9: 79,974,687 (GRCm39)		probably benign	Het
Senp7	A	G	16: 55,992,144 (GRCm39)	Y700C	probably damaging	Het
Siglec1	A	G	2: 130,915,246 (GRCm39)		probably null	Het
Slc12a7	G	A	13: 73,947,087 (GRCm39)	V592I	probably benign	Het
Slfn3	T	C	11: 83,103,825 (GRCm39)	V232A	probably benign	Het
Tdp1	T	C	12: 99,877,906 (GRCm39)	V396A	probably damaging	Het
Ticam1	T	C	17: 56,578,388 (GRCm39)	T236A	probably benign	Het
Tob1	AGCAGCAGCAGCAGCAGCAGCCGTCATCATCCCAGCCGCCGCCTCCACTACCGCAGCAGCAGCAGCAGCAGCC	AGCAGCAGCAGCAGCAGCAGCC	11: 94,105,205 (GRCm39)		probably benign	Het
Ttc21a	C	A	9: 119,787,181 (GRCm39)	D729E	probably damaging	Het
Ubtd2	T	C	11: 32,449,432 (GRCm39)	I93T	possibly damaging	Het
Unc45b	A	G	11: 82,808,586 (GRCm39)	D224G	probably benign	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vmn2r61	A	G	7: 41,916,626 (GRCm39)	E413G	probably damaging	Het
Zfp423	A	T	8: 88,509,033 (GRCm39)	L437Q	probably damaging	Het
Zfp810	A	G	9: 22,190,227 (GRCm39)	V227A	possibly damaging	Het

Other mutations in Pramel6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01555:Pramel6	APN	2	87,341,129 (GRCm39)	utr 3 prime	probably benign
IGL02867:Pramel6	APN	2	87,340,736 (GRCm39)	missense	probably damaging	0.98
IGL03212:Pramel6	APN	2	87,340,769 (GRCm39)	missense	probably damaging	1.00
R1453:Pramel6	UTSW	2	87,338,917 (GRCm39)	missense	possibly damaging	0.83
R1905:Pramel6	UTSW	2	87,339,527 (GRCm39)	missense	probably damaging	0.99
R1905:Pramel6	UTSW	2	87,339,526 (GRCm39)	missense	probably damaging	1.00
R1940:Pramel6	UTSW	2	87,339,076 (GRCm39)	missense	probably damaging	1.00
R2057:Pramel6	UTSW	2	87,339,059 (GRCm39)	missense	possibly damaging	0.92
R2073:Pramel6	UTSW	2	87,339,088 (GRCm39)	missense	probably damaging	1.00
R3423:Pramel6	UTSW	2	87,341,140 (GRCm39)	splice site	probably null
R3500:Pramel6	UTSW	2	87,339,569 (GRCm39)	missense	probably damaging	0.96
R4097:Pramel6	UTSW	2	87,339,697 (GRCm39)	missense	probably benign	0.19
R4396:Pramel6	UTSW	2	87,338,874 (GRCm39)	missense	probably damaging	1.00
R4538:Pramel6	UTSW	2	87,338,903 (GRCm39)	missense	probably benign	0.02
R4719:Pramel6	UTSW	2	87,341,096 (GRCm39)	missense	probably benign	0.00
R4779:Pramel6	UTSW	2	87,339,941 (GRCm39)	missense	probably benign	0.01
R6054:Pramel6	UTSW	2	87,339,003 (GRCm39)	missense	probably benign	0.07
R6457:Pramel6	UTSW	2	87,339,782 (GRCm39)	missense	probably damaging	0.99
R6477:Pramel6	UTSW	2	87,340,946 (GRCm39)	missense	possibly damaging	0.92
R6492:Pramel6	UTSW	2	87,340,766 (GRCm39)	missense	probably benign	0.19
R6684:Pramel6	UTSW	2	87,339,748 (GRCm39)	missense	probably damaging	1.00
R6983:Pramel6	UTSW	2	87,339,923 (GRCm39)	missense	possibly damaging	0.94
R7351:Pramel6	UTSW	2	87,340,672 (GRCm39)	missense	probably benign	0.00
R7357:Pramel6	UTSW	2	87,340,856 (GRCm39)	missense	not run
R7748:Pramel6	UTSW	2	87,339,043 (GRCm39)	missense	probably damaging	1.00
R7991:Pramel6	UTSW	2	87,340,031 (GRCm39)	missense	probably benign	0.00
R8116:Pramel6	UTSW	2	87,338,808 (GRCm39)	missense	probably benign	0.02
R8367:Pramel6	UTSW	2	87,340,814 (GRCm39)	missense	probably damaging	1.00
R8487:Pramel6	UTSW	2	87,339,045 (GRCm39)	missense	probably damaging	1.00
Z1176:Pramel6	UTSW	2	87,339,066 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GACACCCCTAGGATAAAGCTG -3'
(R):5'- GCTGACTTTAAGGAGCTGGGAG -3'

Sequencing Primer
(F):5'- GGATAAAGCTGAACCCATCATATG -3'
(R):5'- TTGCAGGGTACTTGTGAC -3'

Posted On

2022-07-18