Mutagenetix > Incidental Mutation

Incidental Mutation 'R6054:Pramel6'

484284

Institutional Source

Beutler Lab

Gene Symbol

Pramel6

Ensembl Gene

ENSMUSG00000025838

Gene Name

PRAME like 6

Synonyms

MMRRC Submission

044222-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R6054 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87336909-87341209 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87339003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 68 (T68A)

Ref Sequence

ENSEMBL: ENSMUSP00000107198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026956] [ENSMUST00000111572]

AlphaFold

Q810Y9

Predicted Effect

probably benign
Transcript: ENSMUST00000026956
AA Change: T68A

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000026956
Gene: ENSMUSG00000025838
AA Change: T68A

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC
SCOP:d1a4ya_	223	411	5e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111572
AA Change: T68A

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000107198
Gene: ENSMUSG00000025838
AA Change: T68A

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC
SCOP:d1a4ya_	223	411	5e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132216

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138504

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148582

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150746

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,653,729 (GRCm39)	S93P	unknown	Het
Adam28	T	A	14: 68,879,601 (GRCm39)	N149I	probably benign	Het
Adam4	A	C	12: 81,466,828 (GRCm39)	F598V	probably damaging	Het
Adh5	A	G	3: 138,151,136 (GRCm39)	H33R	possibly damaging	Het
Apoh	A	G	11: 108,286,801 (GRCm39)	N75S	probably damaging	Het
Arrdc5	T	C	17: 56,601,420 (GRCm39)	E235G	possibly damaging	Het
Atm	T	C	9: 53,371,173 (GRCm39)	D2225G	probably damaging	Het
Atp6v0a1	C	T	11: 100,930,715 (GRCm39)	P514L	possibly damaging	Het
Brd9	T	A	13: 74,088,860 (GRCm39)	M195K	probably damaging	Het
Cacna1a	T	G	8: 85,283,414 (GRCm39)	S755A	probably damaging	Het
Ccdc85c	T	A	12: 108,241,028 (GRCm39)	H122L	unknown	Het
Ccs	A	T	19: 4,875,893 (GRCm39)	D192E	probably benign	Het
Cd3e	G	A	9: 44,913,459 (GRCm39)	T92M	possibly damaging	Het
Celsr2	A	G	3: 108,314,279 (GRCm39)	F1249L	possibly damaging	Het
Col16a1	G	A	4: 129,955,515 (GRCm39)		probably benign	Het
Col17a1	A	G	19: 47,668,859 (GRCm39)	Y122H	probably damaging	Het
Col28a1	G	A	6: 8,083,748 (GRCm39)	P570S	possibly damaging	Het
Dchs2	A	T	3: 83,253,543 (GRCm39)	I2318L	probably benign	Het
Dhx35	T	A	2: 158,660,219 (GRCm39)	Y184N	probably benign	Het
Dmxl1	T	G	18: 49,990,453 (GRCm39)	N297K	probably benign	Het
Dsp	G	A	13: 38,351,585 (GRCm39)	G135S	probably benign	Het
Efhb	C	T	17: 53,706,027 (GRCm39)	V837I	possibly damaging	Het
Efs	C	T	14: 55,158,614 (GRCm39)	D15N	probably damaging	Het
Fbxl19	C	T	7: 127,351,681 (GRCm39)	T314I	probably damaging	Het
Gm11595	A	T	11: 99,663,474 (GRCm39)	C69S	unknown	Het
Grxcr2	A	G	18: 42,119,743 (GRCm39)	V199A	probably benign	Het
Hadha	T	C	5: 30,328,682 (GRCm39)	E468G	probably benign	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hps1	A	T	19: 42,759,217 (GRCm39)	V125E	probably damaging	Het
Hrg	A	T	16: 22,772,412 (GRCm39)	T74S	probably benign	Het
Idh3a	T	C	9: 54,493,829 (GRCm39)		probably null	Het
Leng8	C	A	7: 4,148,522 (GRCm39)		probably null	Het
Maml2	TCAGCAGCAGCAGCAGCAGC	TCAGCAGCAGCAGCAGC	9: 13,532,695 (GRCm39)		probably benign	Het
Mctp2	T	C	7: 71,908,851 (GRCm39)	H154R	probably benign	Het
Megf6	A	G	4: 154,347,636 (GRCm39)	E777G	probably benign	Het
Miip	A	G	4: 147,950,135 (GRCm39)	S154P	probably benign	Het
Mprip	T	C	11: 59,649,251 (GRCm39)	V985A	probably benign	Het
Nmrk2	G	A	10: 81,035,468 (GRCm39)	R158W	probably damaging	Het
Nsd2	T	C	5: 34,039,505 (GRCm39)	S180P	probably damaging	Het
Oga	A	G	19: 45,764,571 (GRCm39)	S190P	probably damaging	Het
Opa1	T	G	16: 29,433,952 (GRCm39)	S596A	probably damaging	Het
Or1ad1	G	A	11: 50,875,631 (GRCm39)	M34I	probably benign	Het
Or51b4	A	G	7: 103,531,033 (GRCm39)	V139A	probably damaging	Het
Pcdha2	A	G	18: 37,073,857 (GRCm39)	E496G	probably damaging	Het
Pcdhb5	T	G	18: 37,454,133 (GRCm39)	V171G	probably damaging	Het
Ptprq	T	C	10: 107,418,219 (GRCm39)	Y1719C	probably damaging	Het
Pzp	T	C	6: 128,490,727 (GRCm39)	N412S	probably benign	Het
Rb1cc1	G	T	1: 6,320,058 (GRCm39)	R1159L	probably benign	Het
Rev3l	T	A	10: 39,700,146 (GRCm39)	S1548T	probably benign	Het
Rora	A	G	9: 69,286,084 (GRCm39)	I471M	probably benign	Het
Scube1	C	A	15: 83,535,877 (GRCm39)	V266L	probably benign	Het
Sema6a	C	T	18: 47,416,470 (GRCm39)	D386N	possibly damaging	Het
Siglecf	T	A	7: 43,004,430 (GRCm39)	L253Q	probably damaging	Het
Spata31d1b	A	G	13: 59,863,464 (GRCm39)	H204R	probably benign	Het
Syt17	T	C	7: 118,007,356 (GRCm39)	T313A	possibly damaging	Het
Tbc1d32	T	C	10: 56,038,304 (GRCm39)	T578A	possibly damaging	Het
Trpm1	A	G	7: 63,918,450 (GRCm39)	S597G	probably benign	Het
Vmn2r9	T	A	5: 108,996,126 (GRCm39)	H174L	probably damaging	Het
Vrk2	A	T	11: 26,436,975 (GRCm39)	S281T	probably benign	Het
Wdr48	A	G	9: 119,736,843 (GRCm39)	D22G	probably damaging	Het
Zfp408	C	A	2: 91,479,636 (GRCm39)	V61L	probably benign	Het
Zfp652	G	A	11: 95,640,689 (GRCm39)	A205T	probably benign	Het

Other mutations in Pramel6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01555:Pramel6	APN	2	87,341,129 (GRCm39)	utr 3 prime	probably benign
IGL02867:Pramel6	APN	2	87,340,736 (GRCm39)	missense	probably damaging	0.98
IGL03212:Pramel6	APN	2	87,340,769 (GRCm39)	missense	probably damaging	1.00
R1453:Pramel6	UTSW	2	87,338,917 (GRCm39)	missense	possibly damaging	0.83
R1905:Pramel6	UTSW	2	87,339,527 (GRCm39)	missense	probably damaging	0.99
R1905:Pramel6	UTSW	2	87,339,526 (GRCm39)	missense	probably damaging	1.00
R1940:Pramel6	UTSW	2	87,339,076 (GRCm39)	missense	probably damaging	1.00
R2057:Pramel6	UTSW	2	87,339,059 (GRCm39)	missense	possibly damaging	0.92
R2073:Pramel6	UTSW	2	87,339,088 (GRCm39)	missense	probably damaging	1.00
R3423:Pramel6	UTSW	2	87,341,140 (GRCm39)	splice site	probably null
R3500:Pramel6	UTSW	2	87,339,569 (GRCm39)	missense	probably damaging	0.96
R4097:Pramel6	UTSW	2	87,339,697 (GRCm39)	missense	probably benign	0.19
R4396:Pramel6	UTSW	2	87,338,874 (GRCm39)	missense	probably damaging	1.00
R4538:Pramel6	UTSW	2	87,338,903 (GRCm39)	missense	probably benign	0.02
R4719:Pramel6	UTSW	2	87,341,096 (GRCm39)	missense	probably benign	0.00
R4779:Pramel6	UTSW	2	87,339,941 (GRCm39)	missense	probably benign	0.01
R6457:Pramel6	UTSW	2	87,339,782 (GRCm39)	missense	probably damaging	0.99
R6477:Pramel6	UTSW	2	87,340,946 (GRCm39)	missense	possibly damaging	0.92
R6492:Pramel6	UTSW	2	87,340,766 (GRCm39)	missense	probably benign	0.19
R6684:Pramel6	UTSW	2	87,339,748 (GRCm39)	missense	probably damaging	1.00
R6983:Pramel6	UTSW	2	87,339,923 (GRCm39)	missense	possibly damaging	0.94
R7351:Pramel6	UTSW	2	87,340,672 (GRCm39)	missense	probably benign	0.00
R7357:Pramel6	UTSW	2	87,340,856 (GRCm39)	missense	not run
R7748:Pramel6	UTSW	2	87,339,043 (GRCm39)	missense	probably damaging	1.00
R7991:Pramel6	UTSW	2	87,340,031 (GRCm39)	missense	probably benign	0.00
R8116:Pramel6	UTSW	2	87,338,808 (GRCm39)	missense	probably benign	0.02
R8367:Pramel6	UTSW	2	87,340,814 (GRCm39)	missense	probably damaging	1.00
R8487:Pramel6	UTSW	2	87,339,045 (GRCm39)	missense	probably damaging	1.00
R9521:Pramel6	UTSW	2	87,340,629 (GRCm39)	nonsense	probably null
Z1176:Pramel6	UTSW	2	87,339,066 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGTGTTGACTCCCTACCCAC -3'
(R):5'- ACATCCCTTTAGAGGCTGATGC -3'

Sequencing Primer
(F):5'- CCCTCTTTCAGTGGGCAAGAGAC -3'
(R):5'- AAGCCTCTGATCCACCTT -3'

Posted On

2017-07-14