Mutagenetix > Incidental Mutation

Incidental Mutation 'R8324:Pramel13'

643975

Institutional Source

Beutler Lab

Gene Symbol

Pramel13

Ensembl Gene

ENSMUSG00000028591

Gene Name

PRAME like 13

Synonyms

4930569K13Rik, Pramef12

MMRRC Submission

067725-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R8324 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144118244-144135034 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 144122427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 39 (L39R)

Ref Sequence

ENSEMBL: ENSMUSP00000030326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030326] [ENSMUST00000123854]

AlphaFold

Q9D2F1

Predicted Effect

probably damaging
Transcript: ENSMUST00000030326
AA Change: L39R

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

SMART Domains

Protein: ENSMUSP00000030326
Gene: ENSMUSG00000028591
AA Change: L39R

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	223	414	7e-12	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000123854
AA Change: L39R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,240,395 (GRCm39)	S753P	probably damaging	Het
Acan	A	G	7: 78,740,804 (GRCm39)	E390G	probably damaging	Het
Antxr2	T	C	5: 98,086,368 (GRCm39)	N413S	probably damaging	Het
Bace2	C	T	16: 97,158,108 (GRCm39)	A36V	possibly damaging	Het
Caprin1	G	A	2: 103,613,526 (GRCm39)	R79*	probably null	Het
Cdan1	A	G	2: 120,557,806 (GRCm39)	V507A	probably benign	Het
Cdkl3	T	A	11: 51,913,706 (GRCm39)		probably null	Het
Chst5	A	T	8: 112,617,140 (GRCm39)	L160Q	probably benign	Het
Col11a1	C	G	3: 113,958,059 (GRCm39)	P1111R	probably damaging	Het
Col6a6	T	A	9: 105,632,853 (GRCm39)	E1470D	probably benign	Het
Cpped1	T	A	16: 11,623,340 (GRCm39)	T274S	probably benign	Het
Ctnnbl1	G	A	2: 157,621,735 (GRCm39)	E75K	probably damaging	Het
Cyp4f40	T	C	17: 32,878,502 (GRCm39)	S15P	probably benign	Het
Ddx46	T	C	13: 55,811,727 (GRCm39)	S643P	probably damaging	Het
Defb34	A	G	8: 19,173,814 (GRCm39)	Q16R	probably null	Het
Dhrs2	T	A	14: 55,476,221 (GRCm39)	V147E	probably damaging	Het
Dnah5	G	T	15: 28,347,011 (GRCm39)	R2498L	probably damaging	Het
Dpp10	T	A	1: 123,781,901 (GRCm39)	I93F	probably benign	Het
Eef1e1	T	A	13: 38,839,045 (GRCm39)	D104V	probably damaging	Het
Egfr	A	G	11: 16,808,971 (GRCm39)	Y55C	probably damaging	Het
Egfr	A	C	11: 16,858,885 (GRCm39)	I955L	probably damaging	Het
Ehbp1l1	C	A	19: 5,770,026 (GRCm39)	V426F	possibly damaging	Het
Elp1	C	T	4: 56,772,491 (GRCm39)	E877K	probably damaging	Het
Fam234a	C	T	17: 26,437,672 (GRCm39)	V108I	probably benign	Het
Fzd8	T	A	18: 9,214,688 (GRCm39)	M590K	probably damaging	Het
Gm13287	T	C	4: 88,721,875 (GRCm39)	S129P	probably damaging	Het
Heatr5b	A	G	17: 79,062,793 (GRCm39)	S1919P	possibly damaging	Het
Hspg2	C	G	4: 137,246,290 (GRCm39)	P1023A	possibly damaging	Het
Itpr2	T	C	6: 146,229,896 (GRCm39)	E1233G	probably damaging	Het
Kcnmb4	A	G	10: 116,254,219 (GRCm39)	L186P	probably damaging	Het
Krt72	T	A	15: 101,690,580 (GRCm39)	Y224F	probably damaging	Het
Loxhd1	T	C	18: 77,427,275 (GRCm39)		probably null	Het
Lrguk	A	G	6: 34,079,506 (GRCm39)	T914A	probably benign	Het
Lrrtm4	A	G	6: 79,998,974 (GRCm39)	T129A	probably damaging	Het
Mmp13	A	T	9: 7,276,636 (GRCm39)	I244F	possibly damaging	Het
Mob1a	T	A	6: 83,306,956 (GRCm39)	L41Q	probably damaging	Het
Mtcl1	T	C	17: 66,743,212 (GRCm39)	R426G	probably damaging	Het
Mybbp1a	T	C	11: 72,336,114 (GRCm39)		probably null	Het
Myh9	A	G	15: 77,673,117 (GRCm39)		probably null	Het
Myo1d	T	A	11: 80,448,347 (GRCm39)	D926V	probably damaging	Het
Ncapg	T	G	5: 45,853,010 (GRCm39)	H825Q	probably damaging	Het
Olfml1	T	C	7: 107,189,570 (GRCm39)	S212P	probably benign	Het
Or52p1	G	A	7: 104,267,321 (GRCm39)	R145H	probably benign	Het
Pak2	T	C	16: 31,871,029 (GRCm39)	N51S	probably benign	Het
Papln	T	C	12: 83,833,393 (GRCm39)	Y1132H	probably damaging	Het
Pax3	T	A	1: 78,170,426 (GRCm39)	R134S	probably damaging	Het
Pdzrn4	A	G	15: 92,668,818 (GRCm39)	E990G	probably damaging	Het
Peak1	A	T	9: 56,114,760 (GRCm39)	W1394R	probably damaging	Het
Pkn2	T	C	3: 142,534,771 (GRCm39)	N285D	probably benign	Het
Prrc2a	A	G	17: 35,375,960 (GRCm39)	S897P	possibly damaging	Het
Rad51	A	G	2: 118,954,312 (GRCm39)	T131A	possibly damaging	Het
Rc3h2	T	A	2: 37,290,738 (GRCm39)	T255S	possibly damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rictor	T	A	15: 6,775,043 (GRCm39)	V125E	probably damaging	Het
Rps6ka5	C	T	12: 100,524,746 (GRCm39)	D664N	possibly damaging	Het
Rreb1	T	A	13: 38,131,597 (GRCm39)	W1584R	probably damaging	Het
Rxra	T	C	2: 27,631,195 (GRCm39)	I142T	probably damaging	Het
Sall2	T	C	14: 52,550,343 (GRCm39)	T951A	probably benign	Het
Slc15a2	T	G	16: 36,579,669 (GRCm39)	N359T	probably damaging	Het
Slc23a1	C	T	18: 35,755,588 (GRCm39)	G436E	probably damaging	Het
Slc6a13	T	C	6: 121,314,373 (GRCm39)	*603Q	probably null	Het
Sptb	T	C	12: 76,665,936 (GRCm39)	D894G	possibly damaging	Het
Srgn	A	G	10: 62,343,444 (GRCm39)	L17P	probably damaging	Het
Tmprss9	T	C	10: 80,733,205 (GRCm39)		probably null	Het
Trav9n-4	T	C	14: 53,532,403 (GRCm39)	F86L	probably benign	Het
Trp63	A	G	16: 25,695,484 (GRCm39)	Y482C	unknown	Het
Ttc9b	G	T	7: 27,353,394 (GRCm39)	A15S	probably damaging	Het
Urb1	A	T	16: 90,588,078 (GRCm39)	I410N	probably damaging	Het
Vmn2r82	A	T	10: 79,214,727 (GRCm39)	K237*	probably null	Het
Wwox	G	A	8: 115,215,745 (GRCm39)		probably null	Het

Other mutations in Pramel13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Pramel13	APN	4	144,121,310 (GRCm39)	missense	possibly damaging	0.91
IGL01107:Pramel13	APN	4	144,119,664 (GRCm39)	missense	probably benign	0.00
IGL01935:Pramel13	APN	4	144,119,172 (GRCm39)	unclassified	probably benign
IGL02436:Pramel13	APN	4	144,119,539 (GRCm39)	missense	possibly damaging	0.95
IGL02491:Pramel13	APN	4	144,121,322 (GRCm39)	missense	probably damaging	1.00
IGL02744:Pramel13	APN	4	144,119,493 (GRCm39)	missense	probably damaging	1.00
IGL03338:Pramel13	APN	4	144,121,397 (GRCm39)	missense	probably benign	0.01
R0005:Pramel13	UTSW	4	144,122,423 (GRCm39)	missense	probably damaging	1.00
R1401:Pramel13	UTSW	4	144,121,658 (GRCm39)	missense	probably benign	0.00
R1611:Pramel13	UTSW	4	144,119,382 (GRCm39)	missense	probably benign	0.20
R1667:Pramel13	UTSW	4	144,119,606 (GRCm39)	nonsense	probably null
R2017:Pramel13	UTSW	4	144,121,244 (GRCm39)	missense	possibly damaging	0.49
R2290:Pramel13	UTSW	4	144,121,692 (GRCm39)	missense	probably benign	0.19
R2290:Pramel13	UTSW	4	144,121,269 (GRCm39)	missense	probably benign	0.00
R2310:Pramel13	UTSW	4	144,119,475 (GRCm39)	splice site	probably null
R2912:Pramel13	UTSW	4	144,119,304 (GRCm39)	missense	probably damaging	1.00
R2913:Pramel13	UTSW	4	144,119,304 (GRCm39)	missense	probably damaging	1.00
R4558:Pramel13	UTSW	4	144,122,542 (GRCm39)	start codon destroyed	probably null	1.00
R5162:Pramel13	UTSW	4	144,121,482 (GRCm39)	missense	probably damaging	0.96
R5521:Pramel13	UTSW	4	144,122,541 (GRCm39)	start codon destroyed	probably null	1.00
R5530:Pramel13	UTSW	4	144,119,232 (GRCm39)	missense	probably benign	0.03
R5669:Pramel13	UTSW	4	144,122,413 (GRCm39)	missense	probably benign	0.03
R6032:Pramel13	UTSW	4	144,119,598 (GRCm39)	missense	possibly damaging	0.82
R6032:Pramel13	UTSW	4	144,119,598 (GRCm39)	missense	possibly damaging	0.82
R6314:Pramel13	UTSW	4	144,121,157 (GRCm39)	missense	probably damaging	0.98
R6322:Pramel13	UTSW	4	144,119,475 (GRCm39)	missense	probably benign	0.09
R6431:Pramel13	UTSW	4	144,119,653 (GRCm39)	missense	possibly damaging	0.83
R7729:Pramel13	UTSW	4	144,119,434 (GRCm39)	missense	probably damaging	1.00
R8778:Pramel13	UTSW	4	144,119,466 (GRCm39)	missense	probably damaging	1.00
R9711:Pramel13	UTSW	4	144,122,517 (GRCm39)	missense	probably damaging	1.00
Z1187:Pramel13	UTSW	4	144,122,517 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTATTCTGGTCAAGCAGTGC -3'
(R):5'- GATCAGTGGCTGTGGCTCTAAG -3'

Sequencing Primer
(F):5'- TTCTGGTCAAGCAGTGCATCAAC -3'
(R):5'- GAAGGACTTCTTAATCCGTGACC -3'

Posted On

2020-09-02