Mutagenetix > Incidental Mutation

Incidental Mutation 'R0097:Pramel30'

41151

Institutional Source

Beutler Lab

Gene Symbol

Pramel30

Ensembl Gene

ENSMUSG00000078508

Gene Name

PRAME like 30

Synonyms

Gm13128

MMRRC Submission

038383-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R0097 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

144056819-144060035 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144057857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 155 (S155P)

Ref Sequence

ENSEMBL: ENSMUSP00000101377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105751]

AlphaFold

L7MU96

Predicted Effect

probably benign
Transcript: ENSMUST00000105751
AA Change: S155P

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000101377
Gene: ENSMUSG00000078508
AA Change: S155P

Domain	Start	End	E-Value	Type
low complexity region	188	200	N/A	INTRINSIC
SCOP:d1a4ya_	205	408	6e-11	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,206,129 (GRCm39)	I353K	probably benign	Het
Albfm1	T	A	5: 90,732,795 (GRCm39)	S535R	probably benign	Het
Arfgap2	T	A	2: 91,105,160 (GRCm39)	V422E	probably benign	Het
Baz1b	T	C	5: 135,227,113 (GRCm39)	S105P	probably benign	Het
Bbs10	T	C	10: 111,134,705 (GRCm39)	V41A	probably damaging	Het
Cacna1s	T	A	1: 136,028,360 (GRCm39)	M899K	possibly damaging	Het
Ccnd2	G	A	6: 127,123,015 (GRCm39)	A180V	probably benign	Het
Ciao3	T	C	17: 25,995,976 (GRCm39)	S67P	possibly damaging	Het
Cldnd1	A	G	16: 58,550,078 (GRCm39)	N87S	possibly damaging	Het
Cyp2c54	T	A	19: 40,036,102 (GRCm39)		probably benign	Het
Cyp2c54	G	T	19: 40,036,103 (GRCm39)		probably benign	Het
Dab2ip	G	A	2: 35,608,928 (GRCm39)	V629M	possibly damaging	Het
Ddx41	A	T	13: 55,683,691 (GRCm39)		probably benign	Het
Dmrta1	A	T	4: 89,577,109 (GRCm39)	R188S	probably benign	Het
Eml3	T	A	19: 8,914,015 (GRCm39)	F465L	probably benign	Het
Gm9938	T	A	19: 23,701,828 (GRCm39)		probably benign	Het
Gpr87	G	A	3: 59,086,506 (GRCm39)	T333I	probably damaging	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Llgl2	T	A	11: 115,735,323 (GRCm39)	Y59*	probably null	Het
Lzic	A	G	4: 149,572,533 (GRCm39)	E41G	probably damaging	Het
Mprip	T	A	11: 59,649,317 (GRCm39)	L1007Q	possibly damaging	Het
Mtfr2	T	A	10: 20,224,122 (GRCm39)	S19T	probably damaging	Het
Mycbp2	A	T	14: 103,393,198 (GRCm39)	M3121K	probably damaging	Het
Myocd	T	A	11: 65,069,840 (GRCm39)	M667L	possibly damaging	Het
Ncam2	A	G	16: 81,314,425 (GRCm39)	D467G	probably damaging	Het
Neb	T	C	2: 52,094,906 (GRCm39)	N4882S	probably damaging	Het
Neu2	A	G	1: 87,525,188 (GRCm39)	D391G	probably benign	Het
Nol4	C	A	18: 22,852,198 (GRCm39)	A456S	probably benign	Het
Or5m13	T	C	2: 85,749,184 (GRCm39)	V305A	probably benign	Het
Padi6	C	T	4: 140,458,268 (GRCm39)	V513M	probably benign	Het
Pign	G	A	1: 105,515,701 (GRCm39)		probably benign	Het
Plpp2	T	C	10: 79,366,371 (GRCm39)	E91G	possibly damaging	Het
Pnp	T	A	14: 51,188,873 (GRCm39)	V222D	probably damaging	Het
Pnp2	C	T	14: 51,200,958 (GRCm39)	R148C	probably benign	Het
Prss38	A	G	11: 59,266,434 (GRCm39)	L8S	possibly damaging	Het
Rab5b	A	T	10: 128,518,809 (GRCm39)	F108I	probably damaging	Het
Rbbp5	T	A	1: 132,418,227 (GRCm39)	H15Q	possibly damaging	Het
Rhox4f	A	C	X: 36,789,122 (GRCm39)	V15G	probably benign	Het
Rsl1	A	C	13: 67,329,966 (GRCm39)	Q138P	probably damaging	Het
Ryr3	T	C	2: 112,630,400 (GRCm39)	D2157G	probably damaging	Het
Secisbp2l	T	C	2: 125,613,376 (GRCm39)	D206G	probably damaging	Het
Sh3pxd2b	T	A	11: 32,353,978 (GRCm39)	I182N	probably damaging	Het
Slc3a1	A	T	17: 85,340,288 (GRCm39)	I237F	probably damaging	Het
Svs3b	T	C	2: 164,098,159 (GRCm39)	E54G	probably damaging	Het
T	A	T	17: 8,658,733 (GRCm39)		probably benign	Het
Tenm4	A	T	7: 96,542,133 (GRCm39)	D1882V	probably damaging	Het
Tgfbr1	T	A	4: 47,403,451 (GRCm39)	L283*	probably null	Het
Tppp3	C	T	8: 106,194,554 (GRCm39)	A149T	probably benign	Het
Ubp1	T	C	9: 113,802,575 (GRCm39)		probably benign	Het
Ushbp1	C	T	8: 71,843,357 (GRCm39)	C314Y	probably damaging	Het
Vav2	A	T	2: 27,189,374 (GRCm39)		probably benign	Het
Vmn1r228	T	C	17: 20,996,625 (GRCm39)	M298V	probably benign	Het
Zmpste24	A	T	4: 120,952,740 (GRCm39)		probably benign	Het

Other mutations in Pramel30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1743:Pramel30	UTSW	4	144,059,575 (GRCm39)	missense	probably benign	0.03
R3079:Pramel30	UTSW	4	144,058,098 (GRCm39)	missense	probably damaging	1.00
R3948:Pramel30	UTSW	4	144,057,876 (GRCm39)	missense	probably benign	0.01
R3954:Pramel30	UTSW	4	144,058,238 (GRCm39)	missense	probably benign	0.03
R4448:Pramel30	UTSW	4	144,059,255 (GRCm39)	missense	probably damaging	1.00
R5008:Pramel30	UTSW	4	144,057,836 (GRCm39)	missense	probably benign	0.02
R5715:Pramel30	UTSW	4	144,057,870 (GRCm39)	missense	possibly damaging	0.67
R5986:Pramel30	UTSW	4	144,059,323 (GRCm39)	missense	probably damaging	0.98
R6008:Pramel30	UTSW	4	144,057,777 (GRCm39)	missense	probably benign	0.08
R6278:Pramel30	UTSW	4	144,056,837 (GRCm39)	missense	probably damaging	0.98
R6383:Pramel30	UTSW	4	144,059,717 (GRCm39)	makesense	probably null
R6523:Pramel30	UTSW	4	144,058,218 (GRCm39)	missense	probably benign	0.42
R6747:Pramel30	UTSW	4	144,059,548 (GRCm39)	missense	probably benign	0.00
R7276:Pramel30	UTSW	4	144,059,216 (GRCm39)	missense	possibly damaging	0.67
R7555:Pramel30	UTSW	4	144,059,311 (GRCm39)	missense	probably benign	0.01
R8213:Pramel30	UTSW	4	144,057,030 (GRCm39)	missense	probably benign	0.03
R8498:Pramel30	UTSW	4	144,058,233 (GRCm39)	missense	probably benign	0.00
R8801:Pramel30	UTSW	4	144,059,438 (GRCm39)	missense	probably benign	0.12
R8822:Pramel30	UTSW	4	144,057,092 (GRCm39)	missense	probably benign	0.38
R9443:Pramel30	UTSW	4	144,059,678 (GRCm39)	missense	possibly damaging	0.91
R9513:Pramel30	UTSW	4	144,059,678 (GRCm39)	missense	possibly damaging	0.91
R9542:Pramel30	UTSW	4	144,057,095 (GRCm39)	missense	possibly damaging	0.71
R9691:Pramel30	UTSW	4	144,056,844 (GRCm39)	missense	probably damaging	0.99
R9734:Pramel30	UTSW	4	144,057,737 (GRCm39)	missense	probably benign	0.00
Z1177:Pramel30	UTSW	4	144,057,763 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GAGGAATGGACACCATGACTTCTGG -3'
(R):5'- AGGTTTGCTCTGGTAACAGCAACAG -3'

Sequencing Primer
(F):5'- ACACCATGACTTCTGGGATATGC -3'
(R):5'- GTCTTCCAAAGATGCGTACTAGC -3'

Posted On

2013-05-23