Mutagenetix > Incidental Mutation

Incidental Mutation 'R7543:Pramel1'

583999

Institutional Source

Beutler Lab

Gene Symbol

Pramel1

Ensembl Gene

ENSMUSG00000041805

Gene Name

PRAME like 1

Synonyms

MMRRC Submission

045615-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7543 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143120998-143126730 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143124993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 306 (S306P)

Ref Sequence

ENSEMBL: ENSMUSP00000043718 (fasta)

Gene Model

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

AlphaFold

Q99MW3

Predicted Effect

probably damaging
Transcript: ENSMUST00000037419
AA Change: S306P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043718
Gene: ENSMUSG00000041805
AA Change: S306P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	A	5: 125,559,920 (GRCm39)	S54T	probably damaging	Het
Acsl5	G	A	19: 55,266,615 (GRCm39)	V59I		Het
Acss2	A	T	2: 155,391,755 (GRCm39)	I203F	probably damaging	Het
Add2	A	G	6: 86,083,207 (GRCm39)	N435S	probably damaging	Het
Afap1l1	T	C	18: 61,889,972 (GRCm39)	D88G	probably benign	Het
Ajm1	C	A	2: 25,467,410 (GRCm39)	A834S	possibly damaging	Het
Ank3	C	T	10: 69,786,846 (GRCm39)	T970M	possibly damaging	Het
Ap3b2	A	T	7: 81,115,894 (GRCm39)		probably null	Het
Apc2	A	G	10: 80,150,720 (GRCm39)	K1925E	possibly damaging	Het
Aspscr1	A	G	11: 120,600,249 (GRCm39)	N130D	unknown	Het
B3glct	A	G	5: 149,677,604 (GRCm39)	D411G	probably damaging	Het
Bard1	T	C	1: 71,114,589 (GRCm39)	K131E	probably damaging	Het
Bche	T	C	3: 73,609,066 (GRCm39)	D120G	probably damaging	Het
Brms1l	A	T	12: 55,914,997 (GRCm39)	D302V	probably damaging	Het
Ccdc191	T	A	16: 43,718,572 (GRCm39)	Y56*	probably null	Het
Cela3a	T	A	4: 137,129,883 (GRCm39)	H246L	probably damaging	Het
Col11a2	A	T	17: 34,269,430 (GRCm39)	D440V	unknown	Het
Cplane1	T	C	15: 8,254,876 (GRCm39)	I21T	unknown	Het
Dag1	C	T	9: 108,095,280 (GRCm39)	V71I	probably benign	Het
Ddx23	A	G	15: 98,556,139 (GRCm39)	S60P	unknown	Het
Dync1h1	G	T	12: 110,580,541 (GRCm39)	R134L	probably benign	Het
Dync1i1	T	C	6: 5,784,464 (GRCm39)	S103P	possibly damaging	Het
Erap1	T	A	13: 74,822,753 (GRCm39)	D755E	probably damaging	Het
Exosc8	T	C	3: 54,636,669 (GRCm39)	T221A	probably benign	Het
Fbxo4	T	C	15: 4,007,385 (GRCm39)	D93G	probably damaging	Het
Fzd5	A	G	1: 64,774,999 (GRCm39)	V254A	probably damaging	Het
Gbp3	T	C	3: 142,272,341 (GRCm39)	V281A	probably damaging	Het
Gcc2	T	A	10: 58,107,086 (GRCm39)	I774K	probably benign	Het
Gpr132	A	C	12: 112,815,822 (GRCm39)	C335G	probably benign	Het
Gpr162	G	T	6: 124,838,355 (GRCm39)	Y98*	probably null	Het
H2-T24	T	C	17: 36,325,743 (GRCm39)	T283A	possibly damaging	Het
Hoxc6	A	G	15: 102,918,186 (GRCm39)	Y50C	probably damaging	Het
Il4i1	A	G	7: 44,486,199 (GRCm39)	N53S	possibly damaging	Het
Iqcf3	T	C	9: 106,431,425 (GRCm39)	K60R	possibly damaging	Het
Kif24	A	T	4: 41,413,993 (GRCm39)	Y316*	probably null	Het
Krt18	A	G	15: 101,939,896 (GRCm39)	K365E	probably damaging	Het
Lrguk	T	A	6: 34,025,870 (GRCm39)	L222*	probably null	Het
Mbd1	T	G	18: 74,407,520 (GRCm39)	V210G	probably damaging	Het
Ms4a6b	A	G	19: 11,499,155 (GRCm39)	I90V	not run	Het
Muc16	A	G	9: 18,556,028 (GRCm39)	S3422P	unknown	Het
Mynn	G	A	3: 30,661,188 (GRCm39)	W90*	probably null	Het
Or5p5	T	A	7: 107,414,308 (GRCm39)	N172K	probably damaging	Het
Pdpr	T	A	8: 111,859,520 (GRCm39)	H687Q	probably damaging	Het
Pkd1	A	G	17: 24,814,227 (GRCm39)	E4199G	probably damaging	Het
Plekhg5	A	G	4: 152,192,491 (GRCm39)	E517G	probably damaging	Het
Plxna1	T	C	6: 89,299,837 (GRCm39)	D1644G	probably damaging	Het
Pon1	C	T	6: 5,168,400 (GRCm39)	V336M	possibly damaging	Het
Pop1	T	A	15: 34,530,593 (GRCm39)	L1027Q	probably damaging	Het
Prpsap2	A	T	11: 61,635,797 (GRCm39)	F168I	possibly damaging	Het
Rabgap1	T	A	2: 37,359,444 (GRCm39)	D2E	probably damaging	Het
Rgmb	A	T	17: 16,027,777 (GRCm39)	L314Q	probably damaging	Het
Ryr2	C	T	13: 11,653,317 (GRCm39)		probably null	Het
Samd4b	A	T	7: 28,113,711 (GRCm39)	S85T	probably benign	Het
Sfrp5	T	C	19: 42,187,302 (GRCm39)	D256G	possibly damaging	Het
Slc25a23	A	G	17: 57,365,106 (GRCm39)		probably null	Het
Sox5	A	G	6: 143,786,905 (GRCm39)	I589T	probably damaging	Het
Sybu	T	A	15: 44,546,848 (GRCm39)		probably null	Het
Syne2	A	G	12: 75,953,616 (GRCm39)	E515G	possibly damaging	Het
Tbc1d17	G	A	7: 44,495,503 (GRCm39)	A107V	probably benign	Het
Tcstv2c	A	C	13: 120,616,290 (GRCm39)	E43A	probably damaging	Het
Tex50	G	T	1: 160,984,817 (GRCm39)	T141K	possibly damaging	Het
Tmc7	A	G	7: 118,144,979 (GRCm39)	L527P	probably benign	Het
Tns4	T	A	11: 98,963,079 (GRCm39)	D547V	probably benign	Het
Topors	A	G	4: 40,268,312 (GRCm39)	S65P	probably damaging	Het
Trdc	T	A	14: 54,381,692 (GRCm39)	S126T		Het
Ttc27	A	T	17: 75,024,745 (GRCm39)		probably benign	Het
Wdfy3	A	C	5: 102,083,925 (GRCm39)	I787S	probably benign	Het
Zc3h11a	T	C	1: 133,554,768 (GRCm39)	D404G	possibly damaging	Het
Zfp799	A	G	17: 33,039,534 (GRCm39)	I244T	probably benign	Het
Zfp93	A	G	7: 23,974,533 (GRCm39)	T173A	probably benign	Het
Zfp953	T	A	13: 67,495,953 (GRCm39)	L29F	probably 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
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
R9264:Pramel1	UTSW	4	143,125,099 (GRCm39)	missense	probably damaging	1.00
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'- TGGTGACAGGCCTCAGTATAG -3'
(R):5'- CTGTGTACAGCATCTCAGAGCAG -3'

Sequencing Primer
(F):5'- TGACAGGCCTCAGTATAGATTTG -3'
(R):5'- GCACTGAGTTGAGAGTCCATC -3'

Posted On

2019-10-17