Mutagenetix > Incidental Mutation

Incidental Mutation 'R9264:Pramel1'

702413

Institutional Source

Beutler Lab

Gene Symbol

Pramel1

Ensembl Gene

ENSMUSG00000041805

Gene Name

PRAME like 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9264 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143120998-143126730 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 143125099 bp (GRCm39)

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
Abca15	A	T	7: 120,001,056 (GRCm39)	I1531L	probably benign	Het
Adam28	T	C	14: 68,844,914 (GRCm39)	Y791C	probably benign	Het
Ankrd40	T	A	11: 94,229,187 (GRCm39)	I262N	probably damaging	Het
Catsperg2	A	T	7: 29,397,613 (GRCm39)	N1033K	possibly damaging	Het
Cdh10	A	T	15: 18,964,081 (GRCm39)	D81V	probably damaging	Het
Cep290	T	C	10: 100,333,878 (GRCm39)	V310A	possibly damaging	Het
Cep78	T	C	19: 15,951,830 (GRCm39)	Y325C	probably damaging	Het
Clstn3	T	A	6: 124,436,727 (GRCm39)	D197V	probably damaging	Het
Col11a1	T	C	3: 114,005,809 (GRCm39)	I1647T	unknown	Het
Col5a1	G	A	2: 27,854,123 (GRCm39)	R569K	unknown	Het
Cspg4b	G	A	13: 113,456,014 (GRCm39)	V687M		Het
Cyp4a10	T	C	4: 115,381,475 (GRCm39)	S180P	probably benign	Het
D630045J12Rik	T	C	6: 38,135,173 (GRCm39)	I1336V	probably benign	Het
Dchs2	G	A	3: 83,177,784 (GRCm39)	V946M	probably damaging	Het
Dnah10	A	G	5: 124,813,900 (GRCm39)	R347G	probably damaging	Het
Dnah11	T	A	12: 117,991,262 (GRCm39)	D2368V	probably damaging	Het
Ganab	T	C	19: 8,890,228 (GRCm39)	I719T	possibly damaging	Het
Gm10944	C	A	10: 10,557,583 (GRCm39)	A11D	unknown	Het
Gmcl1	T	C	6: 86,691,195 (GRCm39)	M267V	probably benign	Het
Inhbe	T	A	10: 127,186,427 (GRCm39)	D251V	probably damaging	Het
Kcnj1	G	A	9: 32,307,654 (GRCm39)	R26Q	probably benign	Het
Lama5	A	G	2: 179,838,271 (GRCm39)		probably benign	Het
Lin9	T	A	1: 180,494,912 (GRCm39)	D251E	probably damaging	Het
Magel2	T	A	7: 62,028,344 (GRCm39)	I416N	possibly damaging	Het
Mdga2	T	C	12: 66,560,057 (GRCm39)	N772S	probably damaging	Het
Ms4a20	T	A	19: 11,093,830 (GRCm39)	M1L	probably benign	Het
Msh3	G	T	13: 92,485,812 (GRCm39)	Q171K	probably benign	Het
Mslnl	T	G	17: 25,961,506 (GRCm39)		probably benign	Het
Mtpn	A	G	6: 35,489,176 (GRCm39)	L116P	possibly damaging	Het
Myh7	T	C	14: 55,213,454 (GRCm39)	T1351A	probably benign	Het
Nectin3	A	T	16: 46,274,998 (GRCm39)	I353N	probably damaging	Het
Nprl3	A	T	11: 32,183,948 (GRCm39)	N500K	probably benign	Het
Nup93	T	A	8: 95,019,348 (GRCm39)	I181N	probably benign	Het
Optc	T	C	1: 133,832,978 (GRCm39)	I41V	probably benign	Het
Or1b1	G	A	2: 36,994,801 (GRCm39)	T287I	probably damaging	Het
Or4p23	T	C	2: 88,576,776 (GRCm39)	H152R	probably damaging	Het
Pcdh7	C	A	5: 58,286,663 (GRCm39)	N1246K	probably benign	Het
Pcdhb3	T	A	18: 37,435,166 (GRCm39)	D377E	probably benign	Het
Pnpla6	C	T	8: 3,573,294 (GRCm39)	P386L	probably benign	Het
Polr3a	T	C	14: 24,520,899 (GRCm39)	T587A	probably benign	Het
Rhot2	A	T	17: 26,060,740 (GRCm39)	N210K	probably damaging	Het
Slc37a1	A	G	17: 31,519,459 (GRCm39)	I12V	probably benign	Het
Spmip7	T	A	11: 11,414,678 (GRCm39)	D141E		Het
Sstr3	G	T	15: 78,423,792 (GRCm39)	N318K	probably damaging	Het
Ssx2ip	T	C	3: 146,142,955 (GRCm39)	V511A	probably benign	Het
Stfa1	G	A	16: 36,100,930 (GRCm39)	V57I	unknown	Het
Syne1	T	G	10: 5,212,793 (GRCm39)	R3265S	probably damaging	Het
Tacc2	G	T	7: 130,228,533 (GRCm39)	K1739N	probably damaging	Het
Tas2r143	A	T	6: 42,377,673 (GRCm39)	M168L	probably benign	Het
Tm4sf1	A	T	3: 57,202,031 (GRCm39)		probably null	Het
Ttc16	A	G	2: 32,653,017 (GRCm39)	I604T	possibly damaging	Het
Ugt1a10	T	A	1: 87,983,393 (GRCm39)	W64R	possibly damaging	Het
Usp34	A	T	11: 23,439,064 (GRCm39)	H3561L		Het
Vasp	C	T	7: 18,993,376 (GRCm39)	V276I	unknown	Het
Vwa3a	A	G	7: 120,374,687 (GRCm39)	N333S	probably benign	Het
Wipf3	A	G	6: 54,460,866 (GRCm39)	N105D	probably benign	Het
Zfp760	T	C	17: 21,942,663 (GRCm39)	S613P	possibly damaging	Het

Other mutations in Pramel1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00940:Pramel1	APN	4	143,124,126 (GRCm39)	missense	probably damaging	1.00
IGL01363:Pramel1	APN	4	143,123,955 (GRCm39)	missense	probably benign	0.00
IGL01713:Pramel1	APN	4	143,123,652 (GRCm39)	missense	probably benign	0.01
IGL02334:Pramel1	APN	4	143,124,096 (GRCm39)	missense	probably damaging	0.98
IGL02957:Pramel1	APN	4	143,124,168 (GRCm39)	missense	probably benign	0.22
P0045:Pramel1	UTSW	4	143,125,092 (GRCm39)	nonsense	probably null
PIT4431001:Pramel1	UTSW	4	143,124,960 (GRCm39)	missense	possibly damaging	0.61
R0136:Pramel1	UTSW	4	143,124,016 (GRCm39)	missense	probably damaging	1.00
R0544:Pramel1	UTSW	4	143,124,175 (GRCm39)	missense	possibly damaging	0.94
R0612:Pramel1	UTSW	4	143,124,101 (GRCm39)	missense	probably damaging	0.99
R1700:Pramel1	UTSW	4	143,124,999 (GRCm39)	missense	probably damaging	1.00
R2425:Pramel1	UTSW	4	143,125,036 (GRCm39)	missense	probably damaging	1.00
R2927:Pramel1	UTSW	4	143,125,388 (GRCm39)	missense	probably benign
R4012:Pramel1	UTSW	4	143,123,260 (GRCm39)	missense	possibly damaging	0.48
R5253:Pramel1	UTSW	4	143,125,156 (GRCm39)	missense	probably benign	0.03
R5388:Pramel1	UTSW	4	143,123,954 (GRCm39)	missense	probably benign	0.00
R6457:Pramel1	UTSW	4	143,123,275 (GRCm39)	missense	probably damaging	1.00
R7052:Pramel1	UTSW	4	143,123,074 (GRCm39)	missense	probably damaging	1.00
R7543:Pramel1	UTSW	4	143,124,993 (GRCm39)	missense	probably damaging	0.99
R7964:Pramel1	UTSW	4	143,123,810 (GRCm39)	missense	probably benign	0.03
R8532:Pramel1	UTSW	4	143,125,125 (GRCm39)	missense	probably benign	0.04
R8977:Pramel1	UTSW	4	143,123,961 (GRCm39)	missense	probably benign	0.08
R9284:Pramel1	UTSW	4	143,123,769 (GRCm39)	missense	probably benign	0.43
R9466:Pramel1	UTSW	4	143,123,799 (GRCm39)	missense	probably benign	0.10
R9769:Pramel1	UTSW	4	143,125,110 (GRCm39)	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