Mutagenetix > Incidental Mutation

Incidental Mutation 'R9168:Pramel46'

696174

Institutional Source

Beutler Lab

Gene Symbol

Pramel46

Ensembl Gene

ENSMUSG00000096066

Gene Name

PRAME like 46

Synonyms

Gm10424

MMRRC Submission

Accession Numbers

Essential gene?

Not available question?

Stock #

R9168 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95416588-95420614 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95418133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 288 (M288L)

Ref Sequence

ENSEMBL: ENSMUSP00000144603 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000180232] [ENSMUST00000201031]

AlphaFold

A0A0J9YVD0

Predicted Effect

probably benign
Transcript: ENSMUST00000180232
AA Change: M288L

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000136878
Gene: ENSMUSG00000096066
AA Change: M288L

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	210	401	2e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201031
AA Change: M288L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144603
Gene: ENSMUSG00000096066
AA Change: M288L

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	210	401	7e-14	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

97% (67/69)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alppl2	T	C	1: 87,015,050 (GRCm39)	Y437C	probably damaging	Het
Arhgef11	T	G	3: 87,633,790 (GRCm39)	L808R	probably damaging	Het
Armc7	G	A	11: 115,366,724 (GRCm39)		probably benign	Het
Ascl1	T	C	10: 87,328,361 (GRCm39)	N197S	probably benign	Het
Cdc42bpb	T	G	12: 111,286,517 (GRCm39)	E630D	possibly damaging	Het
Cep128	T	C	12: 91,233,794 (GRCm39)	I425V	probably damaging	Het
Ces4a	T	A	8: 105,876,050 (GRCm39)	D530E	probably benign	Het
Ch25h	T	C	19: 34,451,905 (GRCm39)	I208V	probably benign	Het
Cnpy3	A	C	17: 47,063,019 (GRCm39)	C11G	unknown	Het
Col12a1	A	C	9: 79,548,783 (GRCm39)	Y2187*	probably null	Het
Cyp2c40	C	T	19: 39,755,819 (GRCm39)	M498I	probably benign	Het
D630039A03Rik	T	A	4: 57,910,113 (GRCm39)	Y233F	probably damaging	Het
Dffa	A	T	4: 149,192,226 (GRCm39)	D100V	probably damaging	Het
Dock7	A	T	4: 98,953,643 (GRCm39)	M363K		Het
Dscam	A	G	16: 96,420,768 (GRCm39)	V1706A	possibly damaging	Het
En1	A	G	1: 120,530,892 (GRCm39)	D44G	unknown	Het
Enpp4	T	A	17: 44,413,141 (GRCm39)	N131I	probably damaging	Het
Ezh1	T	C	11: 101,086,433 (GRCm39)	D587G	probably damaging	Het
Gm21149	G	T	5: 15,677,132 (GRCm39)	H241N	possibly damaging	Het
Gna15	T	C	10: 81,350,192 (GRCm39)	Y70C	probably damaging	Het
Gucy1a1	T	G	3: 82,009,353 (GRCm39)	M552L	probably damaging	Het
Herc2	G	A	7: 55,802,208 (GRCm39)	V2017M	probably damaging	Het
Hsf4	C	T	8: 105,999,373 (GRCm39)	A297V	probably benign	Het
Ighd	T	A	12: 113,379,203 (GRCm39)	T122S		Het
Iqca1	C	T	1: 90,065,937 (GRCm39)	R218Q	probably damaging	Het
Isl2	C	A	9: 55,452,227 (GRCm39)	S266R	probably benign	Het
Itpkb	A	C	1: 180,160,028 (GRCm39)	R51S	probably benign	Het
Jup	A	T	11: 100,274,219 (GRCm39)		probably null	Het
Kbtbd6	T	C	14: 79,690,553 (GRCm39)	V416A	possibly damaging	Het
Klhl22	T	A	16: 17,602,068 (GRCm39)	Y372N	probably damaging	Het
Klrc3	T	C	6: 129,616,142 (GRCm39)	E191G	probably damaging	Het
Lhx5	A	G	5: 120,570,410 (GRCm39)	D22G	probably benign	Het
Marchf9	GGGCGGCGGCGGCGGCG	GGGCGGCGGCGGCG	10: 126,895,360 (GRCm39)		probably benign	Het
Mbtps1	A	G	8: 120,248,602 (GRCm39)	I707T	probably benign	Het
Nbeal1	T	A	1: 60,331,047 (GRCm39)	Y2219N	probably damaging	Het
Neb	A	G	2: 52,085,696 (GRCm39)	I5513T	probably damaging	Het
Nkx1-1	C	T	5: 33,591,131 (GRCm39)	V64M	unknown	Het
Nme4	G	T	17: 26,314,389 (GRCm39)	A13E	probably benign	Het
Or2g25	T	C	17: 37,971,047 (GRCm39)	Y59C	probably damaging	Het
Or52e18	A	G	7: 104,609,001 (GRCm39)	*313R	probably null	Het
Or7e173	T	C	9: 19,938,818 (GRCm39)	M139V	probably benign	Het
Osbpl3	A	T	6: 50,329,762 (GRCm39)		probably null	Het
Phc3	T	A	3: 30,961,544 (GRCm39)	M963L	probably benign	Het
Phf20	C	T	2: 156,109,234 (GRCm39)	P194S	probably benign	Het
Pou1f1	C	T	16: 65,317,427 (GRCm39)		probably benign	Het
Prdm13	C	G	4: 21,679,659 (GRCm39)	R277P	unknown	Het
Prelid1	A	G	13: 55,470,010 (GRCm39)	K3R	possibly damaging	Het
Psd	C	A	19: 46,309,233 (GRCm39)	D575Y	probably damaging	Het
Ptger3	C	A	3: 157,273,424 (GRCm39)	T257K	probably damaging	Het
Pth1r	T	C	9: 110,556,204 (GRCm39)	H223R	probably benign	Het
Ptk2b	C	T	14: 66,424,899 (GRCm39)	E182K	probably damaging	Het
Ptprj	T	C	2: 90,294,916 (GRCm39)	T431A	possibly damaging	Het
Rbbp5	T	A	1: 132,417,464 (GRCm39)	D119E	probably benign	Het
Rest	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	5: 77,429,651 (GRCm39)		probably benign	Het
Rinl	T	G	7: 28,490,084 (GRCm39)	L41R	possibly damaging	Het
Rrp12	A	G	19: 41,865,603 (GRCm39)	V730A	probably benign	Het
Saraf	G	T	8: 34,632,343 (GRCm39)	V141L	possibly damaging	Het
Slc6a13	T	C	6: 121,302,042 (GRCm39)	L208P	probably damaging	Het
Slc9a9	C	A	9: 94,595,000 (GRCm39)	T170K	probably damaging	Het
Spata31f1e	T	C	4: 42,793,380 (GRCm39)	T251A	probably benign	Het
Stk33	T	C	7: 108,928,747 (GRCm39)	N255S	probably damaging	Het
Tenm2	C	T	11: 35,930,722 (GRCm39)	V1769M	probably damaging	Het
Themis	C	A	10: 28,658,233 (GRCm39)	T420N	probably benign	Het
Tmem116	T	C	5: 121,605,975 (GRCm39)	V109A		Het
Tnfaip2	T	A	12: 111,411,382 (GRCm39)	L2Q	probably damaging	Het
Trub1	T	C	19: 57,452,859 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,679,260 (GRCm39)	V10821I	unknown	Het
Ube2j1	C	A	4: 33,045,111 (GRCm39)	A197D	probably benign	Het
Vmn2r101	T	A	17: 19,809,138 (GRCm39)	I89N	probably damaging	Het
Wfikkn1	T	C	17: 26,097,145 (GRCm39)	Y393C	probably damaging	Het
Zfp729b	C	A	13: 67,741,942 (GRCm39)	E108*	probably null	Het
Zfp976	A	T	7: 42,263,011 (GRCm39)	C276*	probably null	Het

Other mutations in Pramel46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01860:Pramel46	APN	5	95,418,510 (GRCm39)	missense	probably benign	0.17
IGL02864:Pramel46	APN	5	95,418,543 (GRCm39)	missense	possibly damaging	0.59
R6493:Pramel46	UTSW	5	95,418,684 (GRCm39)	missense	probably damaging	1.00
R7546:Pramel46	UTSW	5	95,418,171 (GRCm39)	missense	possibly damaging	0.68
R8765:Pramel46	UTSW	5	95,419,447 (GRCm39)	start codon destroyed	probably null	1.00
R9181:Pramel46	UTSW	5	95,418,414 (GRCm39)	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- GATCAGATCTGTGCTACTCCTTACC -3'
(R):5'- GGGCAGATGAGAAATCTTCGC -3'

Sequencing Primer
(F):5'- CTTCAGTCTTTTGCTTCAGGAG -3'
(R):5'- GAGAAATCTTCGCAAACTTCTCCTGG -3'

Posted On

2022-02-07