Mutagenetix > Incidental Mutation

Incidental Mutation 'R7543:Pramel1'

583999

Institutional Source

Beutler Lab

Gene Symbol

Pramel1

Ensembl Gene

ENSMUSG00000041805

Gene Name

preferentially expressed antigen in melanoma-like 1

Synonyms

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_031377.2; MGI:1890541

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7543 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143394428-143400160 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143398423 bp (GRCm38)

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
2410089E03Rik	T	C	15: 8,225,392	I21T	unknown	Het
Aacs	T	A	5: 125,482,856	S54T	probably damaging	Het
Acsl5	G	A	19: 55,278,183	V59I		Het
Acss2	A	T	2: 155,549,835	I203F	probably damaging	Het
Add2	A	G	6: 86,106,225	N435S	probably damaging	Het
Afap1l1	T	C	18: 61,756,901	D88G	probably benign	Het
Ank3	C	T	10: 69,951,016	T970M	possibly damaging	Het
Ap3b2	A	T	7: 81,466,146		probably null	Het
Apc2	A	G	10: 80,314,886	K1925E	possibly damaging	Het
Aspscr1	A	G	11: 120,709,423	N130D	unknown	Het
B3glct	A	G	5: 149,754,139	D411G	probably damaging	Het
Bard1	T	C	1: 71,075,430	K131E	probably damaging	Het
Bche	T	C	3: 73,701,733	D120G	probably damaging	Het
Brms1l	A	T	12: 55,868,212	D302V	probably damaging	Het
Ccdc191	T	A	16: 43,898,209	Y56*	probably null	Het
Cela3a	T	A	4: 137,402,572	H246L	probably damaging	Het
Col11a2	A	T	17: 34,050,456	D440V	unknown	Het
Dag1	C	T	9: 108,218,081	V71I	probably benign	Het
Ddx23	A	G	15: 98,658,258	S60P	unknown	Het
Dync1h1	G	T	12: 110,614,107	R134L	probably benign	Het
Dync1i1	T	C	6: 5,784,464	S103P	possibly damaging	Het
Erap1	T	A	13: 74,674,634	D755E	probably damaging	Het
Exosc8	T	C	3: 54,729,248	T221A	probably benign	Het
Fbxo4	T	C	15: 3,977,903	D93G	probably damaging	Het
Fzd5	A	G	1: 64,735,840	V254A	probably damaging	Het
Gbp3	T	C	3: 142,566,580	V281A	probably damaging	Het
Gcc2	T	A	10: 58,271,264	I774K	probably benign	Het
Gm20767	A	C	13: 120,154,754	E43A	probably damaging	Het
Gm996	C	A	2: 25,577,398	A834S	possibly damaging	Het
Gpr132	A	C	12: 112,852,202	C335G	probably benign	Het
Gpr162	G	T	6: 124,861,392	Y98*	probably null	Het
H2-T24	T	C	17: 36,014,851	T283A	possibly damaging	Het
Hoxc6	A	G	15: 103,009,754	Y50C	probably damaging	Het
Il4i1	A	G	7: 44,836,775	N53S	possibly damaging	Het
Iqcf3	T	C	9: 106,554,226	K60R	possibly damaging	Het
Kif24	A	T	4: 41,413,993	Y316*	probably null	Het
Krt18	A	G	15: 102,031,461	K365E	probably damaging	Het
Lrguk	T	A	6: 34,048,935	L222*	probably null	Het
Mbd1	T	G	18: 74,274,449	V210G	probably damaging	Het
Ms4a6b	A	G	19: 11,521,791	I90V	not run	Het
Muc16	A	G	9: 18,644,732	S3422P	unknown	Het
Mynn	G	A	3: 30,607,039	W90*	probably null	Het
Olfr467	T	A	7: 107,815,101	N172K	probably damaging	Het
Pdpr	T	A	8: 111,132,888	H687Q	probably damaging	Het
Pkd1	A	G	17: 24,595,253	E4199G	probably damaging	Het
Plekhg5	A	G	4: 152,108,034	E517G	probably damaging	Het
Plxna1	T	C	6: 89,322,855	D1644G	probably damaging	Het
Pon1	C	T	6: 5,168,400	V336M	possibly damaging	Het
Pop1	T	A	15: 34,530,447	L1027Q	probably damaging	Het
Prpsap2	A	T	11: 61,744,971	F168I	possibly damaging	Het
Rabgap1	T	A	2: 37,469,432	D2E	probably damaging	Het
Rgmb	A	T	17: 15,807,515	L314Q	probably damaging	Het
Ryr2	C	T	13: 11,638,431		probably null	Het
Samd4b	A	T	7: 28,414,286	S85T	probably benign	Het
Sfrp5	T	C	19: 42,198,863	D256G	possibly damaging	Het
Slc25a23	A	G	17: 57,058,106		probably null	Het
Sox5	A	G	6: 143,841,179	I589T	probably damaging	Het
Sybu	T	A	15: 44,683,452		probably null	Het
Syne2	A	G	12: 75,906,842	E515G	possibly damaging	Het
Tbc1d17	G	A	7: 44,846,079	A107V	probably benign	Het
Tex50	G	T	1: 161,157,247	T141K	possibly damaging	Het
Tmc7	A	G	7: 118,545,756	L527P	probably benign	Het
Tns4	T	A	11: 99,072,253	D547V	probably benign	Het
Topors	A	G	4: 40,268,312	S65P	probably damaging	Het
Trdc	T	A	14: 54,144,235	S126T		Het
Ttc27	A	T	17: 74,717,750		probably benign	Het
Wdfy3	A	C	5: 101,936,059	I787S	probably benign	Het
Zc3h11a	T	C	1: 133,627,030	D404G	possibly damaging	Het
Zfp799	A	G	17: 32,820,560	I244T	probably benign	Het
Zfp93	A	G	7: 24,275,108	T173A	probably benign	Het
Zfp953	T	A	13: 67,347,889	L29F	probably 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
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
R9264:Pramel1	UTSW	4	143398529	missense	probably damaging	1.00
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'- TGGTGACAGGCCTCAGTATAG -3'
(R):5'- CTGTGTACAGCATCTCAGAGCAG -3'

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

Posted On

2019-10-17