Mutagenetix > Incidental Mutation

Incidental Mutation 'R9264:Pramel1'

702413

Institutional Source

Beutler Lab

Gene Symbol

Pramel1

Ensembl Gene

ENSMUSG00000041805

Gene Name

preferentially expressed antigen in melanoma-like 1

Synonyms

Accession Numbers

Ncbi RefSeq: NM_031377.2; MGI:1890541

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9264 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143394428-143400160 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 143398529 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 341 (L341R)

Ref Sequence

ENSEMBL: ENSMUSP00000043718 (fasta)

Gene Model

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

AlphaFold

Q99MW3

Predicted Effect

probably damaging
Transcript: ENSMUST00000037419
AA Change: L341R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043718
Gene: ENSMUSG00000041805
AA Change: L341R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	T	A	19: 11,116,466	M1L	probably benign	Het
Abca15	A	T	7: 120,401,833	I1531L	probably benign	Het
Adam28	T	C	14: 68,607,465	Y791C	probably benign	Het
Ankrd40	T	A	11: 94,338,361	I262N	probably damaging	Het
BC067074	G	A	13: 113,319,480	V687M		Het
Catsperg2	A	T	7: 29,698,188	N1033K	possibly damaging	Het
Cdh10	A	T	15: 18,963,995	D81V	probably damaging	Het
Cep290	T	C	10: 100,498,016	V310A	possibly damaging	Het
Cep78	T	C	19: 15,974,466	Y325C	probably damaging	Het
Clstn3	T	A	6: 124,459,768	D197V	probably damaging	Het
Col11a1	T	C	3: 114,212,160	I1647T	unknown	Het
Col5a1	G	A	2: 27,964,111	R569K	unknown	Het
Cyp4a10	T	C	4: 115,524,278	S180P	probably benign	Het
D630045J12Rik	T	C	6: 38,158,238	I1336V	probably benign	Het
Dchs2	G	A	3: 83,270,477	V946M	probably damaging	Het
Dnah10	A	G	5: 124,736,836	R347G	probably damaging	Het
Dnah11	T	A	12: 118,027,527	D2368V	probably damaging	Het
Ganab	T	C	19: 8,912,864	I719T	possibly damaging	Het
Gm10944	C	A	10: 10,681,839	A11D	unknown	Het
Gmcl1	T	C	6: 86,714,213	M267V	probably benign	Het
Inhbe	T	A	10: 127,350,558	D251V	probably damaging	Het
Kcnj1	G	A	9: 32,396,358	R26Q	probably benign	Het
Lama5	A	G	2: 180,196,478		probably benign	Het
Lin9	T	A	1: 180,667,347	D251E	probably damaging	Het
Magel2	T	A	7: 62,378,596	I416N	possibly damaging	Het
Mdga2	T	C	12: 66,513,283	N772S	probably damaging	Het
Msh3	G	T	13: 92,349,304	Q171K	probably benign	Het
Mslnl	T	G	17: 25,742,532		probably benign	Het
Mtpn	A	G	6: 35,512,241	L116P	possibly damaging	Het
Myh7	T	C	14: 54,975,997	T1351A	probably benign	Het
Nectin3	A	T	16: 46,454,635	I353N	probably damaging	Het
Nprl3	A	T	11: 32,233,948	N500K	probably benign	Het
Nup93	T	A	8: 94,292,720	I181N	probably benign	Het
Olfr1198	T	C	2: 88,746,432	H152R	probably damaging	Het
Olfr362	G	A	2: 37,104,789	T287I	probably damaging	Het
Optc	T	C	1: 133,905,240	I41V	probably benign	Het
Pcdh7	C	A	5: 58,129,321	N1246K	probably benign	Het
Pcdhb3	T	A	18: 37,302,113	D377E	probably benign	Het
Pnpla6	C	T	8: 3,523,294	P386L	probably benign	Het
Polr3a	T	C	14: 24,470,831	T587A	probably benign	Het
Rhot2	A	T	17: 25,841,766	N210K	probably damaging	Het
Slc37a1	A	G	17: 31,300,485	I12V	probably benign	Het
Spata48	T	A	11: 11,464,678	D141E		Het
Sstr3	G	T	15: 78,539,592	N318K	probably damaging	Het
Ssx2ip	T	C	3: 146,437,200	V511A	probably benign	Het
Stfa1	G	A	16: 36,280,568	V57I	unknown	Het
Syne1	T	G	10: 5,262,793	R3265S	probably damaging	Het
Tacc2	G	T	7: 130,626,803	K1739N	probably damaging	Het
Tas2r143	A	T	6: 42,400,739	M168L	probably benign	Het
Tm4sf1	A	T	3: 57,294,610		probably null	Het
Ttc16	A	G	2: 32,763,005	I604T	possibly damaging	Het
Ugt1a10	T	A	1: 88,055,671	W64R	possibly damaging	Het
Usp34	A	T	11: 23,489,064	H3561L		Het
Vasp	C	T	7: 19,259,451	V276I	unknown	Het
Vwa3a	A	G	7: 120,775,464	N333S	probably benign	Het
Wipf3	A	G	6: 54,483,881	N105D	probably benign	Het
Zfp760	T	C	17: 21,723,682	S613P	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
R5388:Pramel1	UTSW	4	143397384	missense	probably benign	0.00
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
R8532:Pramel1	UTSW	4	143398555	missense	probably benign	0.04
R8977:Pramel1	UTSW	4	143397391	missense	probably benign	0.08
R9284:Pramel1	UTSW	4	143397199	missense	probably benign	0.43
R9466:Pramel1	UTSW	4	143397229	missense	probably benign	0.10
R9769:Pramel1	UTSW	4	143398540	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- TGAACCAGATGCATATTCCCAG -3'
(R):5'- CTGCTTGACAACGTTATATGCC -3'

Sequencing Primer
(F):5'- CAGATGCATATTCCCAGAAATGTC -3'
(R):5'- TATATGCCAGCTCCCTCAGGATAGG -3'

Posted On

2022-03-25