Mutagenetix > Incidental Mutation

Incidental Mutation 'R5644:Pramef25'

440945

Institutional Source

Beutler Lab

Gene Symbol

Pramef25

Ensembl Gene

ENSMUSG00000078511

Gene Name

PRAME family member 25

Synonyms

Gm13109

MMRRC Submission

043292-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R5644 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143948580-143951016 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 143948804 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 484 (G484D)

Ref Sequence

ENSEMBL: ENSMUSP00000101392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105766]

AlphaFold

A2ASI9

Predicted Effect

probably benign
Transcript: ENSMUST00000105766
AA Change: G484D

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000101392
Gene: ENSMUSG00000078511
AA Change: G484D

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	223	427	2e-10	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	A	T	10: 14,432,934	D805E	probably damaging	Het
Adrb2	A	T	18: 62,178,682	N357K	probably benign	Het
Ahnak	A	G	19: 9,010,657	K3102E	possibly damaging	Het
Alkal2	T	A	12: 30,884,890	L36Q	probably damaging	Het
Alkbh8	G	T	9: 3,385,384	V559F	probably damaging	Het
Apba2	A	G	7: 64,715,511	T346A	probably benign	Het
Arhgap10	C	T	8: 77,411,055	M302I	probably benign	Het
Asah1	G	T	8: 41,360,295	T27K	possibly damaging	Het
Bag2	A	G	1: 33,746,953	V96A	probably damaging	Het
Bicd1	C	T	6: 149,520,403	A874V	probably damaging	Het
C4b	T	C	17: 34,742,417	I189M	probably benign	Het
Cacna1a	A	G	8: 84,462,777	Y119C	probably damaging	Het
Calcr	A	G	6: 3,708,538	I216T	probably damaging	Het
Ccar1	T	C	10: 62,771,978	N302S	probably benign	Het
Ccdc93	A	G	1: 121,483,336	H446R	probably benign	Het
Cct6b	A	T	11: 82,722,455	L420Q	probably benign	Het
Cemip	T	C	7: 83,989,184	T273A	probably benign	Het
Cep128	A	T	12: 91,348,851	I87K	probably damaging	Het
Cfap221	A	G	1: 119,932,802	L698P	probably damaging	Het
Cfap43	T	A	19: 47,795,675	N473I	possibly damaging	Het
Clec12b	T	A	6: 129,379,960	I172L	probably benign	Het
Cntnap5b	A	C	1: 100,383,601	E606D	probably benign	Het
Cyp2c67	A	C	19: 39,615,694	V406G	possibly damaging	Het
Dhx57	T	C	17: 80,238,873	I1308V	possibly damaging	Het
Dnah7a	A	T	1: 53,540,979	M1599K	probably benign	Het
Dnajc21	A	T	15: 10,461,915	D133E	probably benign	Het
Dpp8	G	A	9: 65,045,735	W231*	probably null	Het
Dvl3	T	A	16: 20,526,276	I353N	probably damaging	Het
Fgd6	T	A	10: 94,134,050	I1187N	possibly damaging	Het
Fn1	A	T	1: 71,627,250	Y875N	probably damaging	Het
Gaa	T	A	11: 119,280,535	M671K	possibly damaging	Het
Gm11939	T	C	11: 99,559,312	D52G	probably damaging	Het
Gm14403	A	T	2: 177,507,261	H50L	possibly damaging	Het
Gpam	A	T	19: 55,088,899	D153E	probably benign	Het
Gzma	T	C	13: 113,098,260	T66A	probably damaging	Het
Hnmt	A	T	2: 24,014,239	W137R	probably damaging	Het
Hsd17b7	A	T	1: 169,955,948	V297D	probably damaging	Het
Ighv1-85	A	T	12: 116,000,060	S107T	possibly damaging	Het
Kif12	T	A	4: 63,165,893	Q624L	possibly damaging	Het
Kif1b	T	C	4: 149,238,482	D660G	probably damaging	Het
Klf13	T	C	7: 63,891,560		probably benign	Het
Klhl41	A	G	2: 69,670,471	Y92C	probably damaging	Het
Klrc2	A	T	6: 129,656,457	C186S	probably damaging	Het
Lao1	T	A	4: 118,965,236		probably null	Het
Lmo7	A	G	14: 101,929,336		probably benign	Het
Lyst	A	T	13: 13,637,496	Q831L	possibly damaging	Het
Lzts1	A	G	8: 69,139,077	S140P	possibly damaging	Het
Man2b1	T	A	8: 85,094,210	I679N	possibly damaging	Het
Mgat5b	T	A	11: 116,973,400	V464E	probably damaging	Het
Mrgprb5	G	A	7: 48,168,207	T260I	probably benign	Het
Mybpc2	T	C	7: 44,507,053	T825A	probably benign	Het
Mycbp2	T	A	14: 103,287,334	K597I	probably damaging	Het
Naalad2	G	T	9: 18,334,931	N568K	possibly damaging	Het
Neurl1a	A	G	19: 47,179,477	N4S	probably benign	Het
Nfx1	T	C	4: 40,984,973	W366R	probably null	Het
Nipbl	C	T	15: 8,358,907	V410I	probably benign	Het
Nlrp9a	A	T	7: 26,558,568	H537L	possibly damaging	Het
Nxpe4	A	G	9: 48,392,750	N46D	probably benign	Het
Olfr1037	T	C	2: 86,085,159	N206S	probably damaging	Het
Olfr116	T	A	17: 37,624,432	I68F	probably benign	Het
Olfr1188	T	A	2: 88,559,505	M1K	probably null	Het
Olfr1313	A	T	2: 112,071,668	M305K	probably benign	Het
Olfr1443	A	T	19: 12,680,972	Y288F	probably damaging	Het
Olfr290	C	A	7: 84,916,119	F113L	probably benign	Het
Olfr482	A	T	7: 108,094,804	Y255*	probably null	Het
Olfr484	A	G	7: 108,124,651	F204S	probably benign	Het
Olfr791	A	T	10: 129,527,103	N292I	probably damaging	Het
Olfr813	T	A	10: 129,857,427	V303E	probably benign	Het
P2ry12	A	T	3: 59,218,095	M53K	possibly damaging	Het
Pcca	G	A	14: 122,887,069	C684Y	probably damaging	Het
Pdzd7	A	G	19: 45,040,180	S175P	probably benign	Het
Pgbd1	A	G	13: 21,423,152	C291R	probably damaging	Het
Plekhg5	T	C	4: 152,104,340	V200A	probably benign	Het
Pola2	A	G	19: 5,961,170	V42A	probably benign	Het
Prkcd	C	A	14: 30,607,413	K23N	probably benign	Het
Ptdss1	T	C	13: 66,972,540	F267L	probably damaging	Het
Rad54l	C	T	4: 116,098,947	S561N	probably benign	Het
Rai14	T	A	15: 10,593,051	H169L	probably benign	Het
Rfc3	C	T	5: 151,649,979	V40I	probably benign	Het
Rpl31	C	T	1: 39,370,027	R41C	probably benign	Het
Rtl1	C	T	12: 109,591,579	M1275I	probably benign	Het
Ryr2	C	A	13: 11,595,582	E4119D	probably damaging	Het
Senp7	T	C	16: 56,184,149		silent	Het
Sfmbt2	A	T	2: 10,568,373	I571F	probably damaging	Het
Sit1	T	A	4: 43,483,562	T8S	probably benign	Het
Slc22a30	T	C	19: 8,404,616	H97R	possibly damaging	Het
Slco1a5	A	C	6: 142,237,594		probably null	Het
Smc6	T	A	12: 11,289,994	N434K	probably benign	Het
Snap91	G	T	9: 86,790,153		probably null	Het
Srsf10	T	C	4: 135,863,820	S194P	possibly damaging	Het
St14	T	C	9: 31,106,510	M205V	probably benign	Het
Syndig1	A	T	2: 149,899,508	I5F	possibly damaging	Het
Tbrg1	T	C	9: 37,649,413	D389G	probably benign	Het
Tcaf2	G	A	6: 42,642,773	R107C	possibly damaging	Het
Tpmt	T	A	13: 47,028,959	D163V	probably benign	Het
Trim15	T	C	17: 36,866,821	E94G	probably damaging	Het
Trit1	T	C	4: 123,049,172	I279T	probably damaging	Het
Trpm8	T	A	1: 88,359,739	F815I	possibly damaging	Het
Ttn	T	A	2: 76,938,523	T2856S	probably damaging	Het
Ugdh	A	T	5: 65,416,861	D446E	probably benign	Het
Unc5c	C	T	3: 141,678,125	A88V	probably damaging	Het
Vmn1r43	T	C	6: 89,870,372	N44S	probably damaging	Het
Vmn2r120	T	A	17: 57,524,977	M271L	probably benign	Het
Wdr74	T	A	19: 8,737,876	V133E	probably damaging	Het
Zfp607b	T	C	7: 27,703,769	L550P	probably damaging	Het

Other mutations in Pramef25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Pramef25	APN	4	143950214	splice site	probably benign
IGL01562:Pramef25	APN	4	143950865	missense	probably damaging	1.00
IGL02422:Pramef25	APN	4	143949883	missense	probably benign	0.25
IGL02632:Pramef25	APN	4	143949937	missense	possibly damaging	0.84
IGL02745:Pramef25	APN	4	143950724	missense	probably damaging	1.00
IGL02808:Pramef25	APN	4	143951015	utr 5 prime	probably benign
IGL02883:Pramef25	APN	4	143949848	missense	possibly damaging	0.64
IGL02961:Pramef25	APN	4	143949147	missense	probably damaging	1.00
IGL03092:Pramef25	APN	4	143950197	missense	probably damaging	0.97
FR4340:Pramef25	UTSW	4	143949742	missense	probably damaging	0.99
FR4342:Pramef25	UTSW	4	143949742	missense	probably damaging	0.99
FR4342:Pramef25	UTSW	4	143949757	frame shift	probably null
R0533:Pramef25	UTSW	4	143950720	missense	possibly damaging	0.85
R0606:Pramef25	UTSW	4	143949883	missense	probably benign	0.25
R1624:Pramef25	UTSW	4	143949830	missense	possibly damaging	0.47
R1898:Pramef25	UTSW	4	143950728	missense	probably damaging	1.00
R2029:Pramef25	UTSW	4	143949883	missense	probably benign	0.25
R2867:Pramef25	UTSW	4	143948886	missense	probably benign	0.00
R2867:Pramef25	UTSW	4	143948886	missense	probably benign	0.00
R2894:Pramef25	UTSW	4	143949122	missense	probably damaging	1.00
R4111:Pramef25	UTSW	4	143949905	missense	possibly damaging	0.93
R4298:Pramef25	UTSW	4	143949143	nonsense	probably null
R4360:Pramef25	UTSW	4	143950863	missense	possibly damaging	0.81
R4361:Pramef25	UTSW	4	143950863	missense	possibly damaging	0.81
R5137:Pramef25	UTSW	4	143949120	missense	probably benign	0.08
R5195:Pramef25	UTSW	4	143950880	missense	probably damaging	0.99
R5312:Pramef25	UTSW	4	143949095	missense	possibly damaging	0.96
R5548:Pramef25	UTSW	4	143949980	missense	probably benign	0.24
R5591:Pramef25	UTSW	4	143948807	missense	probably damaging	1.00
R6018:Pramef25	UTSW	4	143950899	missense	possibly damaging	0.61
R6177:Pramef25	UTSW	4	143949006	missense	possibly damaging	0.51
R6335:Pramef25	UTSW	4	143949032	missense	probably benign	0.02
R6376:Pramef25	UTSW	4	143950697	missense	probably benign	0.03
R6572:Pramef25	UTSW	4	143949692	missense	probably benign	0.01
R6845:Pramef25	UTSW	4	143949824	missense	probably benign
R6939:Pramef25	UTSW	4	143948796	missense	probably benign	0.09
R7081:Pramef25	UTSW	4	143949278	missense	probably damaging	1.00
R7505:Pramef25	UTSW	4	143949703	missense	possibly damaging	0.94
R7711:Pramef25	UTSW	4	143949252	missense	probably benign	0.22
R8284:Pramef25	UTSW	4	143950125	missense	possibly damaging	0.95
R8297:Pramef25	UTSW	4	143949120	missense	probably benign	0.08
R8299:Pramef25	UTSW	4	143950757	missense	probably benign	0.24
R8700:Pramef25	UTSW	4	143949131	missense	possibly damaging	0.51
R9179:Pramef25	UTSW	4	143949724	missense	probably benign	0.01
R9199:Pramef25	UTSW	4	143949086	missense	probably damaging	1.00
R9214:Pramef25	UTSW	4	143949180	missense	probably benign	0.00
R9411:Pramef25	UTSW	4	143949645	missense	probably damaging	1.00
RF011:Pramef25	UTSW	4	143948908	missense	probably damaging	0.96
RF013:Pramef25	UTSW	4	143948908	missense	probably damaging	0.96
RF021:Pramef25	UTSW	4	143948908	missense	probably damaging	0.96
Z1176:Pramef25	UTSW	4	143950123	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TCTAGATGTCACAGTCAGCCC -3'
(R):5'- CCACGTCTGTCCTAATGAACC -3'

Sequencing Primer
(F):5'- AGATGTCACAGTCAGCCCCTTTG -3'
(R):5'- GCCAGCTGATCATGGAGCTTTATC -3'

Posted On

2016-11-08