Mutagenetix > Incidental Mutation

Incidental Mutation 'R6278:Pramel30'

507769

Institutional Source

Beutler Lab

Gene Symbol

Pramel30

Ensembl Gene

ENSMUSG00000078508

Gene Name

PRAME like 30

Synonyms

Gm13128

MMRRC Submission

044448-MU

Accession Numbers

Essential gene?

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

Stock #

R6278 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144056819-144060035 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 144056837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 7 (P7S)

Ref Sequence

ENSEMBL: ENSMUSP00000101377 (fasta)

Gene Model

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

AlphaFold

L7MU96

Predicted Effect

probably damaging
Transcript: ENSMUST00000105751
AA Change: P7S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101377
Gene: ENSMUSG00000078508
AA Change: P7S

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: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.6%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	T	C	7: 119,373,072 (GRCm39)	S192P	probably damaging	Het
Amy1	T	A	3: 113,355,339 (GRCm39)	Y348F	probably damaging	Het
Brpf3	C	A	17: 29,040,258 (GRCm39)	P893H	probably benign	Het
Cage1	T	C	13: 38,200,395 (GRCm39)	T702A	possibly damaging	Het
Cdk11b	A	G	4: 155,734,060 (GRCm39)		probably benign	Het
Cdk5rap3	T	C	11: 96,802,729 (GRCm39)	Y207C	probably damaging	Het
Cenpc1	T	C	5: 86,183,394 (GRCm39)	K465R	probably damaging	Het
Cldn14	A	C	16: 93,716,486 (GRCm39)	L120R	possibly damaging	Het
Cyp2c69	A	T	19: 39,831,507 (GRCm39)	C435*	probably null	Het
Dmxl2	T	A	9: 54,323,046 (GRCm39)	E1446V	probably damaging	Het
Dnah17	T	A	11: 118,017,116 (GRCm39)	D208V	probably damaging	Het
Eif4g3	G	T	4: 137,915,394 (GRCm39)	G1430V	possibly damaging	Het
Eif5	T	A	12: 111,509,227 (GRCm39)	D284E	probably benign	Het
Fam47e	T	C	5: 92,710,376 (GRCm39)	L125P	probably damaging	Het
Far1	A	G	7: 113,167,344 (GRCm39)	I476M	probably benign	Het
Fsip2	A	T	2: 82,819,242 (GRCm39)	I4992L	probably benign	Het
Gli3	T	A	13: 15,899,698 (GRCm39)	N1028K	possibly damaging	Het
Gucy1a1	T	C	3: 82,004,941 (GRCm39)	K615E	probably damaging	Het
Gykl1	G	T	18: 52,828,280 (GRCm39)	S496I	probably benign	Het
Hmcn1	C	T	1: 150,573,170 (GRCm39)		probably null	Het
Itga2	T	A	13: 114,982,424 (GRCm39)	H1027L	probably benign	Het
Kif24	A	T	4: 41,423,498 (GRCm39)	V251E	probably damaging	Het
Nupr1	T	C	7: 126,224,518 (GRCm39)	Y30C	probably damaging	Het
Or5b119	T	A	19: 13,457,119 (GRCm39)	M148L	probably benign	Het
Or5g29	A	G	2: 85,421,342 (GRCm39)	I153V	probably benign	Het
Or5w14	A	T	2: 87,541,815 (GRCm39)	L145*	probably null	Het
Or8g26	T	A	9: 39,095,594 (GRCm39)	I40N	probably damaging	Het
P2ry1	T	A	3: 60,911,215 (GRCm39)	I118N	possibly damaging	Het
Pcdh1	C	T	18: 38,332,263 (GRCm39)	V247M	probably benign	Het
Pdia5	A	G	16: 35,250,293 (GRCm39)	V222A	possibly damaging	Het
Plce1	G	A	19: 38,713,495 (GRCm39)		probably null	Het
Ppm1m	T	C	9: 106,074,427 (GRCm39)	R239G	probably damaging	Het
Prkcz	A	T	4: 155,352,652 (GRCm39)	F492I	probably damaging	Het
Rpl6	T	C	5: 121,346,912 (GRCm39)	I269T	possibly damaging	Het
Scoc	T	C	8: 84,184,965 (GRCm39)	S2G	unknown	Het
Spesp1	A	T	9: 62,179,921 (GRCm39)	M329K	probably benign	Het
Ston2	T	C	12: 91,615,104 (GRCm39)	K435E	probably damaging	Het
Synj2	A	T	17: 6,026,149 (GRCm39)	L69F	probably damaging	Het
Tigd5	T	C	15: 75,781,842 (GRCm39)	I68T	probably damaging	Het
Tmcc2	A	T	1: 132,286,720 (GRCm39)	M577K	probably damaging	Het
Tmem131l	A	T	3: 83,849,798 (GRCm39)	I263N	possibly damaging	Het
Trip13	T	C	13: 74,061,439 (GRCm39)	E408G	probably benign	Het
Txnl4b	T	C	8: 110,295,735 (GRCm39)		probably null	Het
Ube2o	T	C	11: 116,430,369 (GRCm39)	E1123G	probably damaging	Het
Vmn1r123	A	G	7: 20,896,774 (GRCm39)	H222R	possibly damaging	Het
Vmn2r73	G	T	7: 85,522,140 (GRCm39)	H66Q	probably benign	Het
Zc3h13	T	A	14: 75,567,863 (GRCm39)	V1052D	probably benign	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
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'- GCAGTTTGCTTTTGAGACCAC -3'
(R):5'- ACTCCCTCCAGTATAGCCTG -3'

Sequencing Primer
(F):5'- GCTTTTGAGACCACCAAATAGTGAG -3'
(R):5'- CAGTATAGCCTGGAAAGTCTCC -3'

Posted On

2018-03-15