Mutagenetix > Incidental Mutations

Incidental Mutation 'R5388:Pramel1'

425399

Institutional Source

Beutler Lab

Gene Symbol

Pramel1

Ensembl Gene

ENSMUSG00000041805

Gene Name

preferentially expressed antigen in melanoma-like 1

Synonyms

MMRRC Submission

042960-MU

Accession Numbers

Ncbi RefSeq: NM_031377.2; MGI:1890541

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5388 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143394428-143400160 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143397384 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 210 (Y210H)

Ref Sequence

ENSEMBL: ENSMUSP00000043718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037419]

Predicted Effect

probably benign
Transcript: ENSMUST00000037419
AA Change: Y210H

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

SMART Domains

Protein: ENSMUSP00000043718
Gene: ENSMUSG00000041805
AA Change: Y210H

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	203	396	1e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119019

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,283,727	Q4483R	probably damaging	Het
Abca16	T	C	7: 120,540,746		probably null	Het
Acap2	C	A	16: 31,109,725	C475F	probably damaging	Het
Ace	C	A	11: 105,988,458	P603Q	possibly damaging	Het
Adamts20	C	G	15: 94,345,778	V657L	possibly damaging	Het
Antxr2	A	G	5: 97,977,599		probably null	Het
Atp6v1b2	G	A	8: 69,101,437	V89I	probably benign	Het
Cacna1e	G	A	1: 154,477,796	P676L	probably damaging	Het
Camsap3	A	T	8: 3,604,276	I649F	probably damaging	Het
Camta1	G	T	4: 151,075,238	S490R	probably damaging	Het
Celsr1	A	G	15: 85,925,518	I2221T	probably damaging	Het
Cfd	A	T	10: 79,892,125	D164V	probably damaging	Het
Cfdp1	T	C	8: 111,768,752	D278G	probably damaging	Het
Cntn6	A	T	6: 104,832,562	L519F	probably damaging	Het
Col4a4	C	T	1: 82,493,591	G681E	unknown	Het
Cybrd1	T	C	2: 71,137,645		probably null	Het
Cyp2e1	T	C	7: 140,763,993	L48P	probably damaging	Het
Ep400	G	A	5: 110,701,728	T1409I	unknown	Het
Epp13	T	C	7: 6,266,347		probably null	Het
Exosc7	A	T	9: 123,118,907	D47V	probably damaging	Het
Fgr	T	C	4: 132,995,031	F204L	probably damaging	Het
Gm10100	G	A	10: 77,726,726	V81M	probably benign	Het
Gm12367	T	C	4: 35,235,690		noncoding transcript	Het
Gm15922	T	C	7: 3,738,857	T175A	possibly damaging	Het
Grxcr1	C	A	5: 68,166,195	T272K	probably damaging	Het
Kcna5	C	T	6: 126,534,896	D90N	probably benign	Het
Kdm5b	T	A	1: 134,608,897	Y618*	probably null	Het
Lama5	T	A	2: 180,190,746	H1670L	possibly damaging	Het
Mtus2	C	T	5: 148,306,708	Q113*	probably null	Het
Ncam1	A	C	9: 49,544,754	D521E	probably benign	Het
Nkapl	T	C	13: 21,467,570	H291R	possibly damaging	Het
Nlrp1b	T	G	11: 71,172,141	N695H	probably damaging	Het
Npc1l1	T	A	11: 6,214,733	Q1105H	probably damaging	Het
Paxip1	C	G	5: 27,781,455		probably benign	Het
Pign	A	T	1: 105,655,970	W136R	probably damaging	Het
Pkn3	T	A	2: 30,081,074	S222T	probably damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Ppfibp1	T	A	6: 146,996,840	I98N	probably damaging	Het
Ppfibp1	T	G	6: 147,016,330	S484A	probably damaging	Het
Ppp1r7	T	C	1: 93,352,590	F127L	probably damaging	Het
Rad21l	C	T	2: 151,653,483	V427I	probably benign	Het
Ripply1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	TTCCTCCTCCTCCTCCTCCTCCTCCTCCT	X: 139,779,850		probably benign	Het
Rnf225	A	G	7: 12,928,005	D37G	probably damaging	Het
Smpd2	A	G	10: 41,487,971		probably null	Het
Tmem38b	C	T	4: 53,859,945	R242W	probably benign	Het
Topaz1	A	T	9: 122,774,093	K1035I	possibly damaging	Het
Trhr	T	C	15: 44,197,477	I131T	possibly damaging	Het
Usp1	A	G	4: 98,931,057	D252G	probably benign	Het
Usp14	C	T	18: 10,018,023	E90K	probably damaging	Het
Yme1l1	T	G	2: 23,162,557	D74E	probably benign	Het
Ythdc2	T	A	18: 44,857,025	L732Q	possibly damaging	Het
Zbbx	G	T	3: 75,083,670	A289D	probably damaging	Het
Zfhx3	G	A	8: 108,946,814	V1499I	possibly damaging	Het
Zfp622	T	C	15: 25,996,199	V184A	possibly damaging	Het

Other mutations in Pramel1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00940:Pramel1	APN	4	143397556	missense	probably damaging	1.00
IGL01363:Pramel1	APN	4	143397385	missense	probably benign	0.00
IGL01713:Pramel1	APN	4	143397082	missense	probably benign	0.01
IGL02334:Pramel1	APN	4	143397526	missense	probably damaging	0.98
IGL02957:Pramel1	APN	4	143397598	missense	probably benign	0.22
P0045:Pramel1	UTSW	4	143398522	nonsense	probably null
PIT4431001:Pramel1	UTSW	4	143398390	missense	possibly damaging	0.61
R0136:Pramel1	UTSW	4	143397446	missense	probably damaging	1.00
R0544:Pramel1	UTSW	4	143397605	missense	possibly damaging	0.94
R0612:Pramel1	UTSW	4	143397531	missense	probably damaging	0.99
R1700:Pramel1	UTSW	4	143398429	missense	probably damaging	1.00
R2425:Pramel1	UTSW	4	143398466	missense	probably damaging	1.00
R2927:Pramel1	UTSW	4	143398818	missense	probably benign
R4012:Pramel1	UTSW	4	143396690	missense	possibly damaging	0.48
R5253:Pramel1	UTSW	4	143398586	missense	probably benign	0.03
R6457:Pramel1	UTSW	4	143396705	missense	probably damaging	1.00
R7052:Pramel1	UTSW	4	143396504	missense	probably damaging	1.00
R7543:Pramel1	UTSW	4	143398423	missense	probably damaging	0.99
R7964:Pramel1	UTSW	4	143397240	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AACAGCCAGTGAAGGTGCTG -3'
(R):5'- GACAGTATCCAGATGCAGGATC -3'

Sequencing Primer
(F):5'- CCAGTGAAGGTGCTGGTAGAC -3'
(R):5'- CAGGATCTGGAGGCATTTCAG -3'

Posted On

2016-08-04