Mutagenetix > Incidental Mutation

Incidental Mutation 'R4448:Pramel30'

328826

Institutional Source

Beutler Lab

Gene Symbol

Pramel30

Ensembl Gene

ENSMUSG00000078508

Gene Name

PRAME like 30

Synonyms

Gm13128

MMRRC Submission

041709-MU

Accession Numbers

Essential gene?

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

Stock #

R4448 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

144056819-144060035 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 144059255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 322 (H322P)

Ref Sequence

ENSEMBL: ENSMUSP00000101377 (fasta)

Gene Model

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

AlphaFold

L7MU96

Predicted Effect

probably damaging
Transcript: ENSMUST00000105751
AA Change: H322P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101377
Gene: ENSMUSG00000078508
AA Change: H322P

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

94% (49/52)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3930402G23Rik	T	A	8: 10,976,129 (GRCm39)		noncoding transcript	Het
A1cf	A	T	19: 31,923,262 (GRCm39)	T513S	probably benign	Het
Acaca	A	T	11: 84,153,318 (GRCm39)	I909F	probably damaging	Het
Adgb	T	C	10: 10,266,569 (GRCm39)	I980V	probably benign	Het
Akap13	T	A	7: 75,392,508 (GRCm39)	F2450L	probably damaging	Het
Alg11	C	A	8: 22,558,095 (GRCm39)	A469E	probably benign	Het
Asb8	A	G	15: 98,039,211 (GRCm39)	V63A	possibly damaging	Het
Atp6v1b2	T	A	8: 69,554,674 (GRCm39)	D126E	probably benign	Het
BC048562	T	A	9: 108,315,723 (GRCm39)	L43Q	probably damaging	Het
Ctcf	A	T	8: 106,406,925 (GRCm39)		probably benign	Het
Efs	A	G	14: 55,157,649 (GRCm39)	S128P	probably damaging	Het
Epg5	T	A	18: 78,005,676 (GRCm39)	M722K	probably damaging	Het
Ezr	T	C	17: 7,020,473 (GRCm39)	I203V	probably benign	Het
F5	A	T	1: 164,026,468 (GRCm39)	N1680I	possibly damaging	Het
Fcna	A	G	2: 25,515,488 (GRCm39)	F194L	probably damaging	Het
Fut7	A	G	2: 25,314,951 (GRCm39)	T70A	probably benign	Het
Galnt2	A	G	8: 125,022,116 (GRCm39)	D14G	probably benign	Het
Gpr4	G	A	7: 18,956,926 (GRCm39)	A283T	probably damaging	Het
Herc2	T	C	7: 55,877,640 (GRCm39)	L4569P	probably damaging	Het
Hhip	C	T	8: 80,770,574 (GRCm39)		probably null	Het
Hoxc12	A	G	15: 102,846,911 (GRCm39)	K268E	probably damaging	Het
Iqcm	T	C	8: 76,356,394 (GRCm39)	S176P	probably damaging	Het
Kansl1l	A	G	1: 66,777,318 (GRCm39)	S605P	probably damaging	Het
Kcnh4	A	G	11: 100,646,733 (GRCm39)	F198L	probably benign	Het
Kmt2e	T	C	5: 23,669,788 (GRCm39)	F92L	possibly damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Mycbp2	T	C	14: 103,425,938 (GRCm39)	I2396V	possibly damaging	Het
Nckap5	G	A	1: 125,953,463 (GRCm39)	Q1030*	probably null	Het
Pag1	T	C	3: 9,764,526 (GRCm39)	E209G	probably benign	Het
Pttg1	A	T	11: 43,315,517 (GRCm39)		probably benign	Het
Rab38	T	G	7: 88,139,833 (GRCm39)	D167E	probably benign	Het
Rbm26	A	T	14: 105,388,986 (GRCm39)	F302I	probably damaging	Het
Rpap2	G	A	5: 107,749,661 (GRCm39)	V62I	possibly damaging	Het
Sec23b	A	G	2: 144,401,171 (GRCm39)	N11D	probably benign	Het
Sipa1l1	G	A	12: 82,388,524 (GRCm39)	G250D	probably benign	Het
Sipa1l2	A	T	8: 126,219,094 (GRCm39)	V81D	probably damaging	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Sqstm1	A	G	11: 50,093,866 (GRCm39)		probably benign	Het
Taf4	A	G	2: 179,577,764 (GRCm39)	L519P	possibly damaging	Het
Tdrd6	C	T	17: 43,940,626 (GRCm39)	G141S	probably benign	Het
Urb1	C	T	16: 90,566,282 (GRCm39)	V1502I	possibly damaging	Het
Vmn1r222	A	C	13: 23,416,463 (GRCm39)	V250G	probably benign	Het
Vmn1r222	G	A	13: 23,416,830 (GRCm39)	L128F	probably damaging	Het
Wwc2	A	G	8: 48,321,702 (GRCm39)	Y471H	unknown	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
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'- CCAAAAGGTTACACTGGATGCC -3'
(R):5'- ACAGTTCCATGGTCAGCTGG -3'

Sequencing Primer
(F):5'- GGATGCCATCCCAAGATCACTTTG -3'
(R):5'- GCAGAACATCCCTGGAGATGTTATTG -3'

Posted On

2015-07-21