Mutagenetix > Incidental Mutation

Incidental Mutation 'R5832:Pramel14'

449348

Institutional Source

Beutler Lab

Gene Symbol

Pramel14

Ensembl Gene

ENSMUSG00000078509

Gene Name

PRAME like 14

Synonyms

Gm13107, Pramef17

MMRRC Submission

044054-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R5832 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143717697-143720939 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143718532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 304 (S304P)

Ref Sequence

ENSEMBL: ENSMUSP00000101388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105762]

AlphaFold

A2ASJ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000105762
AA Change: S304P

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101388
Gene: ENSMUSG00000078509
AA Change: S304P

Domain	Start	End	E-Value	Type
low complexity region	188	200	N/A	INTRINSIC
SCOP:d1a4ya_	205	408	5e-11	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Adgrv1	G	A	13: 81,251,421 (GRCm39)	S6232F	possibly damaging	Het
Alox12	T	C	11: 70,144,106 (GRCm39)	E129G	probably damaging	Het
Anxa13	C	A	15: 58,205,389 (GRCm39)		noncoding transcript	Het
Arfgef3	C	T	10: 18,506,168 (GRCm39)	G878D	probably damaging	Het
Asnsd1	T	C	1: 53,386,634 (GRCm39)	D331G	probably damaging	Het
Crisp1	A	G	17: 40,612,208 (GRCm39)		probably null	Het
Eml5	T	C	12: 98,842,447 (GRCm39)	N217S	probably benign	Het
Fat1	A	T	8: 45,470,460 (GRCm39)	Y1463F	possibly damaging	Het
Fhod3	T	C	18: 25,223,752 (GRCm39)	W1033R	probably damaging	Het
Galr2	T	A	11: 116,172,457 (GRCm39)	L49Q	probably damaging	Het
Gstm5	T	C	3: 107,804,853 (GRCm39)	V115A	probably benign	Het
Gtpbp2	C	T	17: 46,478,788 (GRCm39)	T535I	probably damaging	Het
Hk1	T	C	10: 62,128,144 (GRCm39)	E326G	probably benign	Het
Igfn1	A	G	1: 135,902,533 (GRCm39)	V388A	probably damaging	Het
Iqgap2	C	T	13: 95,811,880 (GRCm39)	R707H	probably damaging	Het
Kitl	C	A	10: 99,915,882 (GRCm39)	P137H	probably damaging	Het
Lamp3	A	T	16: 19,520,070 (GRCm39)	Y38N	probably damaging	Het
Lmo7	A	T	14: 102,121,649 (GRCm39)	N5I	probably damaging	Het
Mc3r	T	A	2: 172,091,350 (GRCm39)	C191S	probably benign	Het
Mep1a	G	A	17: 43,789,055 (GRCm39)	H574Y	probably benign	Het
Mybpc3	A	G	2: 90,949,520 (GRCm39)		probably null	Het
Nav2	A	T	7: 49,197,817 (GRCm39)		probably null	Het
Patz1	C	T	11: 3,256,277 (GRCm39)	P521L	probably benign	Het
Prkcd	T	C	14: 30,327,778 (GRCm39)	T103A	probably damaging	Het
Pttg1ip	T	C	10: 77,419,859 (GRCm39)		probably null	Het
Rcbtb2	C	A	14: 73,404,262 (GRCm39)	Q85K	possibly damaging	Het
Rdh16f1	T	A	10: 127,624,618 (GRCm39)	V152E	probably damaging	Het
Rsph4a	A	G	10: 33,785,498 (GRCm39)	I470V	probably benign	Het
Sarnp	T	C	10: 128,684,181 (GRCm39)		probably null	Het
Slc39a6	C	A	18: 24,734,669 (GRCm39)	V7L	possibly damaging	Het
Slco1a4	A	G	6: 141,765,270 (GRCm39)	I324T	probably benign	Het
Spata31d1a	A	T	13: 59,849,380 (GRCm39)	V916E	probably damaging	Het
Srgap1	T	G	10: 121,676,819 (GRCm39)	T392P	probably damaging	Het
Tbc1d20	A	T	2: 152,153,282 (GRCm39)	M271L	possibly damaging	Het
Tbc1d22b	T	C	17: 29,789,621 (GRCm39)	I161T	possibly damaging	Het
Tcof1	G	T	18: 60,952,611 (GRCm39)	N918K	unknown	Het
Tnr	A	G	1: 159,713,692 (GRCm39)	T707A	probably benign	Het
Trim66	A	G	7: 109,054,409 (GRCm39)	F1267S	probably damaging	Het
Trpm6	A	G	19: 18,764,183 (GRCm39)	H263R	possibly damaging	Het
Tshz2	T	A	2: 169,725,965 (GRCm39)	V187D	possibly damaging	Het
Ube2f	T	G	1: 91,213,046 (GRCm39)	V176G	possibly damaging	Het
Vmn2r109	C	T	17: 20,761,318 (GRCm39)	A680T	probably benign	Het
Vmn2r77	T	A	7: 86,460,670 (GRCm39)	C665*	probably null	Het
Zfp954	A	G	7: 7,118,389 (GRCm39)	V385A	probably damaging	Het

Other mutations in Pramel14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Pramel14	APN	4	143,719,894 (GRCm39)	missense	probably benign	0.01
IGL01981:Pramel14	APN	4	143,720,924 (GRCm39)	missense	probably damaging	1.00
IGL02322:Pramel14	APN	4	143,718,591 (GRCm39)	splice site	probably benign
IGL02514:Pramel14	APN	4	143,719,772 (GRCm39)	missense	probably benign	0.12
IGL02806:Pramel14	APN	4	143,719,501 (GRCm39)	splice site	probably null
IGL02888:Pramel14	APN	4	143,720,669 (GRCm39)	missense	probably benign	0.42
IGL03032:Pramel14	APN	4	143,719,815 (GRCm39)	missense	probably damaging	1.00
R0269:Pramel14	UTSW	4	143,720,088 (GRCm39)	splice site	probably benign
R0363:Pramel14	UTSW	4	143,718,221 (GRCm39)	missense	probably benign	0.01
R0617:Pramel14	UTSW	4	143,720,088 (GRCm39)	splice site	probably benign
R1456:Pramel14	UTSW	4	143,719,851 (GRCm39)	missense	probably benign
R1475:Pramel14	UTSW	4	143,720,882 (GRCm39)	missense	probably benign	0.00
R1724:Pramel14	UTSW	4	143,720,002 (GRCm39)	missense	probably benign	0.00
R2158:Pramel14	UTSW	4	143,720,885 (GRCm39)	missense	possibly damaging	0.65
R2210:Pramel14	UTSW	4	143,720,789 (GRCm39)	missense	probably benign
R3834:Pramel14	UTSW	4	143,720,796 (GRCm39)	missense	probably benign	0.01
R4438:Pramel14	UTSW	4	143,718,192 (GRCm39)	missense	probably damaging	1.00
R5152:Pramel14	UTSW	4	143,720,830 (GRCm39)	missense	probably damaging	0.97
R6809:Pramel14	UTSW	4	143,719,651 (GRCm39)	missense	probably benign	0.01
R6986:Pramel14	UTSW	4	143,719,888 (GRCm39)	missense	probably damaging	0.99
R7072:Pramel14	UTSW	4	143,720,698 (GRCm39)	missense	probably damaging	0.97
R7144:Pramel14	UTSW	4	143,718,103 (GRCm39)	missense	probably benign	0.43
R7268:Pramel14	UTSW	4	143,720,090 (GRCm39)	splice site	probably null
R7737:Pramel14	UTSW	4	143,718,526 (GRCm39)	missense	possibly damaging	0.89
R8048:Pramel14	UTSW	4	143,718,177 (GRCm39)	missense	probably benign	0.04
R8074:Pramel14	UTSW	4	143,718,424 (GRCm39)	missense	probably benign	0.00
R8342:Pramel14	UTSW	4	143,720,809 (GRCm39)	missense	probably benign
R8855:Pramel14	UTSW	4	143,720,905 (GRCm39)	missense	probably damaging	0.97
R9105:Pramel14	UTSW	4	143,718,595 (GRCm39)	splice site	probably benign
R9490:Pramel14	UTSW	4	143,719,606 (GRCm39)	missense	probably benign	0.01
R9633:Pramel14	UTSW	4	143,720,818 (GRCm39)	missense	possibly damaging	0.78
R9671:Pramel14	UTSW	4	143,719,687 (GRCm39)	missense	probably benign	0.16
R9685:Pramel14	UTSW	4	143,719,520 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CTGAGGTGAGAGTCCTTCATC -3'
(R):5'- AGTCCCTGCTTGTCACTGAAG -3'

Sequencing Primer
(F):5'- AGGTGAGAGTCCTTCATCCTACAG -3'
(R):5'- CCTGCTTGTCACTGAAGACTAAG -3'

Posted On

2016-12-20