Mutagenetix > Incidental Mutation

Incidental Mutation 'R6403:Pramel22'

516216

Institutional Source

Beutler Lab

Gene Symbol

Pramel22

Ensembl Gene

ENSMUSG00000078513

Gene Name

PRAME like 22

Synonyms

Gm13088

MMRRC Submission

044382-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R6403 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

143380330-143383816 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 143382343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 118 (Q118*)

Ref Sequence

ENSEMBL: ENSMUSP00000101397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105771]

AlphaFold

A2AGW6

Predicted Effect

probably null
Transcript: ENSMUST00000105771
AA Change: Q118*

SMART Domains

Protein: ENSMUSP00000101397
Gene: ENSMUSG00000078513
AA Change: Q118*

Domain	Start	End	E-Value	Type
low complexity region	188	202	N/A	INTRINSIC
low complexity region	372	391	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,768,881 (GRCm39)	D227G	possibly damaging	Het
Aox1	A	G	1: 58,107,594 (GRCm39)	I623V	probably damaging	Het
Camsap2	G	A	1: 136,208,538 (GRCm39)	R317*	probably null	Het
Carmil1	G	A	13: 24,265,950 (GRCm39)	R271C	probably damaging	Het
Ces2b	T	A	8: 105,562,901 (GRCm39)	L323*	probably null	Het
Copb1	T	A	7: 113,837,686 (GRCm39)	I286F	probably damaging	Het
Dnajb11	T	A	16: 22,689,691 (GRCm39)	V285D	probably damaging	Het
Dok5	G	T	2: 170,671,820 (GRCm39)	A79S	probably damaging	Het
Enpp2	T	C	15: 54,727,160 (GRCm39)	N557S	probably damaging	Het
Hexa	G	A	9: 59,464,644 (GRCm39)	R178H	probably damaging	Het
Iars1	T	C	13: 49,840,971 (GRCm39)	S35P	probably damaging	Het
Il3ra	G	T	14: 14,347,137 (GRCm38)	A3S	probably damaging	Het
Iqcm	T	C	8: 76,304,624 (GRCm39)		probably null	Het
Krt9	G	T	11: 100,080,485 (GRCm39)	S420R	probably damaging	Het
Lca5l	T	C	16: 95,975,045 (GRCm39)	N293S	probably benign	Het
Mb21d2	A	G	16: 28,647,269 (GRCm39)	I235T	possibly damaging	Het
Ncbp3	A	G	11: 72,969,802 (GRCm39)	T550A	probably benign	Het
Nckipsd	G	T	9: 108,688,882 (GRCm39)	R139L	possibly damaging	Het
Nxn	A	G	11: 76,289,846 (GRCm39)	V14A	probably benign	Het
Or8d2b	T	C	9: 38,788,538 (GRCm39)	L22P	probably damaging	Het
Rprd2	C	A	3: 95,673,399 (GRCm39)	C668F	possibly damaging	Het
Tmem87a	A	T	2: 120,211,252 (GRCm39)	M231K	possibly damaging	Het
Trappc8	A	G	18: 20,999,128 (GRCm39)	V333A	probably benign	Het
Trit1	C	A	4: 122,933,372 (GRCm39)	T103K	possibly damaging	Het
Tspan13	A	G	12: 36,065,704 (GRCm39)	F203S	probably damaging	Het
Vmn2r114	C	T	17: 23,528,939 (GRCm39)	D388N	probably damaging	Het
Zfp617	C	T	8: 72,683,015 (GRCm39)	A55V	probably benign	Het

Other mutations in Pramel22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Pramel22	APN	4	143,381,887 (GRCm39)	missense	probably benign	0.00
IGL01418:Pramel22	APN	4	143,381,887 (GRCm39)	missense	probably benign	0.00
IGL01551:Pramel22	APN	4	143,383,042 (GRCm39)	missense	probably damaging	0.99
IGL02016:Pramel22	APN	4	143,381,889 (GRCm39)	missense	possibly damaging	0.52
IGL02157:Pramel22	APN	4	143,380,947 (GRCm39)	missense	probably damaging	1.00
IGL02433:Pramel22	APN	4	143,382,007 (GRCm39)	missense	possibly damaging	0.92
IGL02726:Pramel22	APN	4	143,381,955 (GRCm39)	missense	probably damaging	1.00
IGL02900:Pramel22	APN	4	143,382,085 (GRCm39)	missense	possibly damaging	0.59
IGL03367:Pramel22	APN	4	143,382,193 (GRCm39)	missense	possibly damaging	0.46
IGL02835:Pramel22	UTSW	4	143,380,817 (GRCm39)	missense	probably damaging	1.00
R0141:Pramel22	UTSW	4	143,381,138 (GRCm39)	missense	probably benign	0.01
R0166:Pramel22	UTSW	4	143,381,081 (GRCm39)	missense	probably benign	0.00
R0197:Pramel22	UTSW	4	143,383,010 (GRCm39)	missense	possibly damaging	0.76
R0365:Pramel22	UTSW	4	143,382,071 (GRCm39)	nonsense	probably null
R0427:Pramel22	UTSW	4	143,380,993 (GRCm39)	missense	probably benign	0.00
R0701:Pramel22	UTSW	4	143,383,010 (GRCm39)	missense	possibly damaging	0.76
R0927:Pramel22	UTSW	4	143,380,790 (GRCm39)	missense	possibly damaging	0.84
R1103:Pramel22	UTSW	4	143,381,942 (GRCm39)	missense	probably damaging	1.00
R1163:Pramel22	UTSW	4	143,383,204 (GRCm39)	missense	probably damaging	1.00
R1565:Pramel22	UTSW	4	143,382,187 (GRCm39)	nonsense	probably null
R1588:Pramel22	UTSW	4	143,382,121 (GRCm39)	missense	probably damaging	1.00
R1669:Pramel22	UTSW	4	143,380,916 (GRCm39)	missense	possibly damaging	0.53
R1925:Pramel22	UTSW	4	143,381,025 (GRCm39)	missense	probably damaging	1.00
R1929:Pramel22	UTSW	4	143,380,712 (GRCm39)	missense	probably damaging	1.00
R1990:Pramel22	UTSW	4	143,380,838 (GRCm39)	missense	probably damaging	1.00
R2272:Pramel22	UTSW	4	143,380,712 (GRCm39)	missense	probably damaging	1.00
R2845:Pramel22	UTSW	4	143,380,868 (GRCm39)	missense	probably damaging	0.99
R3819:Pramel22	UTSW	4	143,382,365 (GRCm39)	missense	probably benign	0.02
R4660:Pramel22	UTSW	4	143,380,847 (GRCm39)	missense	probably benign	0.01
R4857:Pramel22	UTSW	4	143,383,158 (GRCm39)	missense	possibly damaging	0.65
R4888:Pramel22	UTSW	4	143,380,971 (GRCm39)	missense	probably benign	0.33
R5004:Pramel22	UTSW	4	143,380,706 (GRCm39)	missense	probably benign
R5242:Pramel22	UTSW	4	143,382,181 (GRCm39)	missense	probably benign	0.38
R5246:Pramel22	UTSW	4	143,382,127 (GRCm39)	missense	probably benign	0.00
R5596:Pramel22	UTSW	4	143,381,025 (GRCm39)	missense	probably damaging	1.00
R5735:Pramel22	UTSW	4	143,381,205 (GRCm39)	missense	probably damaging	1.00
R5841:Pramel22	UTSW	4	143,382,109 (GRCm39)	missense	possibly damaging	0.95
R5982:Pramel22	UTSW	4	143,381,034 (GRCm39)	missense	probably damaging	0.99
R6052:Pramel22	UTSW	4	143,382,222 (GRCm39)	missense	probably damaging	1.00
R6169:Pramel22	UTSW	4	143,380,685 (GRCm39)	missense	probably benign	0.04
R6584:Pramel22	UTSW	4	143,382,040 (GRCm39)	missense	possibly damaging	0.74
R6898:Pramel22	UTSW	4	143,382,053 (GRCm39)	missense	probably damaging	1.00
R7438:Pramel22	UTSW	4	143,382,130 (GRCm39)	missense	probably damaging	0.96
R7563:Pramel22	UTSW	4	143,380,675 (GRCm39)	nonsense	probably null
R7674:Pramel22	UTSW	4	143,382,175 (GRCm39)	nonsense	probably null
R7792:Pramel22	UTSW	4	143,381,123 (GRCm39)	missense	probably benign	0.00
R7796:Pramel22	UTSW	4	143,380,727 (GRCm39)	missense	possibly damaging	0.57
R7915:Pramel22	UTSW	4	143,382,315 (GRCm39)	missense	possibly damaging	0.94
R7921:Pramel22	UTSW	4	143,383,135 (GRCm39)	missense	probably damaging	0.97
R8213:Pramel22	UTSW	4	143,380,755 (GRCm39)	missense	probably benign	0.00
R8419:Pramel22	UTSW	4	143,382,997 (GRCm39)	missense	probably damaging	0.99
R8813:Pramel22	UTSW	4	143,380,913 (GRCm39)	missense	probably damaging	1.00
R8844:Pramel22	UTSW	4	143,380,976 (GRCm39)	missense	probably damaging	0.99
R8893:Pramel22	UTSW	4	143,382,060 (GRCm39)	missense	probably damaging	1.00
R9098:Pramel22	UTSW	4	143,381,097 (GRCm39)	missense	probably benign	0.01
R9185:Pramel22	UTSW	4	143,381,898 (GRCm39)	missense	probably benign	0.03
R9422:Pramel22	UTSW	4	143,382,982 (GRCm39)	missense	probably damaging	1.00
X0021:Pramel22	UTSW	4	143,382,318 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AAGATTTCTATCACTGTGGCTTTGG -3'
(R):5'- AAGATGCCCCTCTTGCAAAG -3'

Sequencing Primer
(F):5'- GGTTAAGCTTTGAATTACCAGCTTCC -3'
(R):5'- GCTATTCATTTACTGAGCATGAGGC -3'

Posted On

2018-05-04