Mutagenetix > Incidental Mutation

Incidental Mutation 'R5246:Pramel22'

401147

Institutional Source

Beutler Lab

Gene Symbol

Pramel22

Ensembl Gene

ENSMUSG00000078513

Gene Name

PRAME like 22

Synonyms

Gm13088

MMRRC Submission

042817-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R5246 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143380330-143383816 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 143382127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 190 (P190T)

Ref Sequence

ENSEMBL: ENSMUSP00000101397 (fasta)

Gene Model

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

AlphaFold

A2AGW6

Predicted Effect

probably benign
Transcript: ENSMUST00000105771
AA Change: P190T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000101397
Gene: ENSMUSG00000078513
AA Change: P190T

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: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	T	A	10: 14,302,509 (GRCm39)	Y968F	probably damaging	Het
Bltp1	G	A	3: 37,102,199 (GRCm39)	R1299Q	probably damaging	Het
Brwd1	G	A	16: 95,803,757 (GRCm39)	P2138S	probably damaging	Het
Cdkl4	T	A	17: 80,846,913 (GRCm39)		probably null	Het
Cep55	T	A	19: 38,058,119 (GRCm39)	D237E	probably benign	Het
Clhc1	T	A	11: 29,525,434 (GRCm39)	S503T	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Efcab5	T	C	11: 77,079,671 (GRCm39)	Y25C	probably damaging	Het
Eif3c	G	A	7: 126,156,410 (GRCm39)	T444I	possibly damaging	Het
Epb41l4b	G	T	4: 57,040,989 (GRCm39)	N491K	probably damaging	Het
Gm9776	A	T	13: 94,495,065 (GRCm39)		probably benign	Het
Lrcol1	A	C	5: 110,502,377 (GRCm39)	E84D	possibly damaging	Het
Lrp1b	A	G	2: 41,360,952 (GRCm39)		probably null	Het
Mup5	T	A	4: 61,752,874 (GRCm39)	I50L	probably benign	Het
Myo16	A	T	8: 10,612,212 (GRCm39)	K1286*	probably null	Het
Prss46	T	A	9: 110,679,102 (GRCm39)	V101D	probably damaging	Het
Rint1	T	A	5: 24,005,809 (GRCm39)	W164R	probably damaging	Het
Rnf139	G	A	15: 58,771,552 (GRCm39)	V526I	probably damaging	Het
Rptn	A	T	3: 93,304,140 (GRCm39)	D491V	probably damaging	Het
Rptn	A	G	3: 93,305,036 (GRCm39)	T790A	possibly damaging	Het
Scn8a	T	C	15: 100,908,938 (GRCm39)	L802P	probably damaging	Het
Scrib	T	C	15: 75,936,646 (GRCm39)	E435G	probably benign	Het
Sdk1	C	A	5: 142,100,317 (GRCm39)	T1449K	possibly damaging	Het
Septin7	T	A	9: 25,210,832 (GRCm39)	L289M	probably damaging	Het
Spry1	A	G	3: 37,696,916 (GRCm39)	Y53C	probably damaging	Het
Srpk3	C	T	X: 72,818,555 (GRCm39)	R82*	probably null	Het
Tmcc1	A	G	6: 116,020,381 (GRCm39)	V142A	probably damaging	Het
Vmn2r45	T	G	7: 8,486,251 (GRCm39)	T346P	probably benign	Het
Wdr25	A	G	12: 108,993,382 (GRCm39)	I533V	probably benign	Het
Zfp292	A	C	4: 34,805,842 (GRCm39)	Y2401D	possibly damaging	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
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
R6403:Pramel22	UTSW	4	143,382,343 (GRCm39)	nonsense	probably null
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'- CCGAGGAATTCTTTCAGATTGCC -3'
(R):5'- CTGAACTCTCTGTCATGAATGGC -3'

Sequencing Primer
(F):5'- GGAAATGTGGGAAGTTGAGAAACC -3'
(R):5'- GGCAGACTTAATGAATCTGACAC -3'

Posted On

2016-07-06