Mutagenetix > Incidental Mutation

Incidental Mutation 'R8498:Pramel30'

658364

Institutional Source

Beutler Lab

Gene Symbol

Pramel30

Ensembl Gene

ENSMUSG00000078508

Gene Name

PRAME like 30

Synonyms

Gm13128

MMRRC Submission

067940-MU

Accession Numbers

Essential gene?

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

Stock #

R8498 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144056819-144060035 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144058233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 280 (D280G)

Ref Sequence

ENSEMBL: ENSMUSP00000101377 (fasta)

Gene Model

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

AlphaFold

L7MU96

Predicted Effect

probably benign
Transcript: ENSMUST00000105751
AA Change: D280G

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

SMART Domains

Protein: ENSMUSP00000101377
Gene: ENSMUSG00000078508
AA Change: D280G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	T	1: 120,096,872 (GRCm39)		probably null	Het
Amigo1	A	G	3: 108,095,751 (GRCm39)	M417V	probably benign	Het
Celsr1	G	T	15: 85,823,306 (GRCm39)	Q1701K	probably benign	Het
Cfhr2	G	T	1: 139,741,219 (GRCm39)	T252K	possibly damaging	Het
Cntnap4	T	A	8: 113,602,211 (GRCm39)	V1205E	possibly damaging	Het
Ctsb	T	C	14: 63,370,881 (GRCm39)	I31T	probably benign	Het
Cyp4f13	G	C	17: 33,143,833 (GRCm39)	P497R	probably damaging	Het
Dna2	A	G	10: 62,809,094 (GRCm39)	D1062G	probably benign	Het
Dnah7a	A	C	1: 53,657,139 (GRCm39)	M879R	probably benign	Het
Gcc1	C	A	6: 28,418,029 (GRCm39)	S768I	probably benign	Het
Gm29106	T	C	1: 118,128,218 (GRCm39)	Y637H	probably damaging	Het
Gm4787	T	C	12: 81,425,840 (GRCm39)	D106G	probably damaging	Het
Gm527	T	A	12: 64,967,782 (GRCm39)	V68D	probably damaging	Het
Grm1	A	T	10: 10,955,605 (GRCm39)	Y226*	probably null	Het
Hkdc1	T	C	10: 62,221,662 (GRCm39)	R799G	probably benign	Het
Ier2	T	C	8: 85,389,353 (GRCm39)	I10V	probably damaging	Het
Ifi209	A	G	1: 173,470,069 (GRCm39)	N219S	probably benign	Het
Iqcn	T	C	8: 71,162,625 (GRCm39)	I606T	probably benign	Het
Krt88	A	G	15: 101,351,406 (GRCm39)	S138G	probably benign	Het
Lrrc3	T	C	10: 77,736,824 (GRCm39)	D204G	probably damaging	Het
Mllt6	T	C	11: 97,567,688 (GRCm39)	I705T	possibly damaging	Het
Mpl	G	A	4: 118,306,207 (GRCm39)	P278S	probably benign	Het
Nkx3-2	T	C	5: 41,920,989 (GRCm39)	E100G	probably benign	Het
Or13p8	A	T	4: 118,583,822 (GRCm39)	Y126F	possibly damaging	Het
Or56b1b	A	T	7: 108,164,833 (GRCm39)	C56*	probably null	Het
Or8b12b	G	A	9: 37,684,560 (GRCm39)	V202M	probably damaging	Het
Pcdh15	G	A	10: 74,317,974 (GRCm39)	V992I	probably damaging	Het
Pcdhgc5	A	G	18: 37,953,487 (GRCm39)	N254D	probably damaging	Het
Pdgfd	A	G	9: 6,288,655 (GRCm39)	E103G	probably damaging	Het
Ppp2r1b	C	T	9: 50,778,194 (GRCm39)	R304*	probably null	Het
Prdm2	G	A	4: 142,907,467 (GRCm39)	A35V	probably damaging	Het
Psd	T	C	19: 46,312,788 (GRCm39)	N194S	probably damaging	Het
Rasgef1c	A	T	11: 49,862,248 (GRCm39)	E379V	probably damaging	Het
Rnf43	A	T	11: 87,618,267 (GRCm39)	I186F	probably damaging	Het
Ros1	C	T	10: 52,055,047 (GRCm39)	C85Y	probably damaging	Het
Setd2	T	A	9: 110,378,989 (GRCm39)	L935I	probably damaging	Het
Slc2a5	A	G	4: 150,210,590 (GRCm39)	Q46R	probably benign	Het
Ss18l1	A	T	2: 179,699,968 (GRCm39)	Q276L	probably damaging	Het
Tas2r129	A	T	6: 132,928,815 (GRCm39)	M251L	probably benign	Het
Thoc1	A	G	18: 9,989,693 (GRCm39)	E458G	probably benign	Het
Wdr35	T	A	12: 9,058,626 (GRCm39)	N594K	probably damaging	Het
Zzef1	T	A	11: 72,744,148 (GRCm39)	C835S	probably damaging	Het

Other mutations in Pramel30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0097:Pramel30	UTSW	4	144,057,857 (GRCm39)	missense	probably benign	0.01
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
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'- GTTCATCAAGGAGTTGGAACTG -3'
(R):5'- GAGCCCTGATTCAGTTCACATG -3'

Sequencing Primer
(F):5'- CTGAATACAGTGGGGAATCTGTCC -3'
(R):5'- TGGAACAAGATTATGCTTACATGTTC -3'

Posted On

2021-01-18