Mutagenetix > Incidental Mutation

Incidental Mutation 'R2240:Pramel5'

240306

Institutional Source

Beutler Lab

Gene Symbol

Pramel5

Ensembl Gene

ENSMUSG00000036749

Gene Name

preferentially expressed antigen in melanoma like 5

Synonyms

OTTMUSG00000010540

MMRRC Submission

040240-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R2240 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144270633-144280488 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 144272936 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 194 (E194*)

Ref Sequence

ENSEMBL: ENSMUSP00000101378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035757] [ENSMUST00000105752]

AlphaFold

Q7TPY4

Predicted Effect

probably null
Transcript: ENSMUST00000035757
AA Change: E194*

SMART Domains

Protein: ENSMUSP00000044222
Gene: ENSMUSG00000036749
AA Change: E194*

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	224	411	1e-11	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000105752
AA Change: E194*

SMART Domains

Protein: ENSMUSP00000101378
Gene: ENSMUSG00000036749
AA Change: E194*

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	224	411	1e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133357

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144127

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,376,443	I318N	probably damaging	Het
Abl1	A	G	2: 31,800,505	K679E	probably benign	Het
Actr8	A	G	14: 29,989,757	H420R	possibly damaging	Het
Arhgap29	T	A	3: 122,011,453	V897D	probably benign	Het
Bckdk	C	A	7: 127,905,418	R105S	probably damaging	Het
Bicc1	A	G	10: 70,946,803		probably null	Het
Brd4	T	C	17: 32,213,639		probably benign	Het
Camk2g	T	C	14: 20,765,446	E184G	probably damaging	Het
Camta1	T	C	4: 151,084,575	S240G	possibly damaging	Het
Cbx7	C	A	15: 79,918,357	A240S	probably damaging	Het
Ccdc181	A	T	1: 164,280,027	D93V	probably damaging	Het
Ces2g	A	C	8: 104,962,502	S37R	probably benign	Het
Clca1	T	A	3: 145,008,985	R624W	probably damaging	Het
Clca3b	T	C	3: 144,825,935	K703E	probably benign	Het
Clec2h	T	C	6: 128,675,882	V204A	probably benign	Het
Cltb	T	C	13: 54,599,154	N3S	possibly damaging	Het
Col9a1	A	G	1: 24,179,501	I65V	unknown	Het
D430041D05Rik	C	T	2: 104,156,816	R1895Q	probably damaging	Het
Dnah1	T	C	14: 31,299,974	S1191G	probably benign	Het
Ehf	G	A	2: 103,274,075	P163S	probably benign	Het
Fam170b	A	C	14: 32,835,868	H220P	probably damaging	Het
Fastkd1	G	A	2: 69,696,953	T598I	probably benign	Het
Fignl2	C	T	15: 101,054,035	G122D	probably damaging	Het
Foxp4	C	A	17: 47,871,276	V530L	unknown	Het
Gcnt1	G	T	19: 17,329,331	D343E	possibly damaging	Het
Gja8	T	G	3: 96,920,302	N15H	probably benign	Het
Gm128	T	C	3: 95,240,932	E17G	probably benign	Het
Gm13212	C	T	4: 145,585,321		probably benign	Het
Gnl1	T	C	17: 35,982,679	V252A	probably benign	Het
Gpld1	G	A	13: 24,982,507		probably null	Het
Gpr179	A	G	11: 97,351,733	L95P	probably damaging	Het
Gtf2a1	A	T	12: 91,586,739	D31E	possibly damaging	Het
Il12a	T	A	3: 68,694,184	Y58*	probably null	Het
Il1r2	T	C	1: 40,105,470	W106R	probably damaging	Het
Kif26b	A	G	1: 178,715,923	S374G	probably benign	Het
Mafb	A	T	2: 160,366,027	V217E	probably damaging	Het
Mapk13	T	A	17: 28,778,111	D292E	probably damaging	Het
Matn2	A	G	15: 34,433,063	D871G	probably damaging	Het
Mdn1	C	A	4: 32,765,701	T5220K	possibly damaging	Het
Mfsd6	T	C	1: 52,660,819	I723M	probably damaging	Het
Mfsd7a	A	G	5: 108,444,707	S234P	probably benign	Het
Mia2	G	A	12: 59,107,882	S127N	probably benign	Het
Mpeg1	A	C	19: 12,463,038	E620A	probably damaging	Het
Mrgprb3	A	T	7: 48,643,641	F54Y	probably damaging	Het
Mtx2	A	G	2: 74,869,352	I156V	probably benign	Het
Neurog1	T	C	13: 56,251,535	E133G	probably damaging	Het
Nid2	G	A	14: 19,805,914	D1236N	probably damaging	Het
Nif3l1	A	G	1: 58,452,129	T213A	probably benign	Het
Olfr866	A	G	9: 20,027,144	S265P	probably damaging	Het
Otog	A	G	7: 46,241,029	M1V	probably null	Het
Pde4dip	C	T	3: 97,724,164	R1143K	probably benign	Het
Pgam2	T	C	11: 5,803,265		probably benign	Het
Plec	T	C	15: 76,206,050	D30G	probably damaging	Het
Prss22	T	A	17: 23,996,781	S56C	probably damaging	Het
Rab23	A	G	1: 33,739,325	N216S	probably benign	Het
Rasgrf1	A	T	9: 89,976,762	E491V	probably damaging	Het
Rbbp8	C	T	18: 11,677,669	T76I	probably damaging	Het
Rtn2	G	A	7: 19,286,829		probably null	Het
Sdr39u1	A	T	14: 55,899,667	N62K	probably damaging	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Slc26a3	T	C	12: 31,457,072	V342A	probably damaging	Het
Snx30	G	T	4: 59,886,515	C308F	probably damaging	Het
Timd2	A	T	11: 46,678,216	V205E	probably benign	Het
Tmcc1	C	CAT	6: 116,042,870		probably null	Het
Tnfaip6	G	A	2: 52,050,914	D156N	probably benign	Het
Uggt2	T	A	14: 118,995,049	E1463D	probably damaging	Het
Urb2	C	A	8: 124,030,139	P862T	probably benign	Het
Vmn1r64	A	T	7: 5,884,370	L58*	probably null	Het
Vmn2r3	C	A	3: 64,259,062	G883C	probably benign	Het
Vps13d	A	T	4: 145,110,895	C2707S	possibly damaging	Het
Wdr11	G	T	7: 129,605,694		probably null	Het
Wdr37	T	A	13: 8,861,232		probably benign	Het
Wtap	G	A	17: 12,975,465	Q95*	probably null	Het
Zfp26	A	T	9: 20,437,267	L667H	probably damaging	Het

Other mutations in Pramel5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Pramel5	APN	4	144271621	missense	probably damaging	1.00
IGL00990:Pramel5	APN	4	144273979	missense	probably damaging	1.00
IGL01070:Pramel5	APN	4	144271272	missense	probably damaging	1.00
IGL01298:Pramel5	APN	4	144271162	utr 3 prime	probably benign
IGL01653:Pramel5	APN	4	144273859	missense	probably benign	0.01
IGL02150:Pramel5	APN	4	144273201	missense	possibly damaging	0.93
IGL02278:Pramel5	APN	4	144271551	missense	probably damaging	1.00
IGL02671:Pramel5	APN	4	144273112	missense	probably benign	0.25
IGL02868:Pramel5	APN	4	144271352	missense	probably benign	0.03
IGL02981:Pramel5	APN	4	144272860	missense	probably benign	0.01
R0532:Pramel5	UTSW	4	144272740	missense	probably benign	0.03
R0646:Pramel5	UTSW	4	144271620	missense	probably damaging	1.00
R1328:Pramel5	UTSW	4	144271488	missense	probably damaging	1.00
R1902:Pramel5	UTSW	4	144273863	nonsense	probably null
R2027:Pramel5	UTSW	4	144271704	missense	probably damaging	1.00
R2439:Pramel5	UTSW	4	144273740	missense	probably benign	0.01
R3922:Pramel5	UTSW	4	144273052	missense	probably damaging	1.00
R4470:Pramel5	UTSW	4	144271345	missense	possibly damaging	0.89
R4808:Pramel5	UTSW	4	144272755	missense	probably benign	0.04
R4969:Pramel5	UTSW	4	144271617	missense	probably damaging	1.00
R5195:Pramel5	UTSW	4	144271741	missense	probably benign	0.01
R5198:Pramel5	UTSW	4	144273494	intron	probably benign
R5930:Pramel5	UTSW	4	144272983	missense	probably benign	0.43
R5988:Pramel5	UTSW	4	144273146	missense	possibly damaging	0.46
R6662:Pramel5	UTSW	4	144273105	missense	probably benign	0.32
R6988:Pramel5	UTSW	4	144274007	start gained	probably benign
R7116:Pramel5	UTSW	4	144273881	missense	possibly damaging	0.94
R7638:Pramel5	UTSW	4	144271440	missense	possibly damaging	0.93
R8247:Pramel5	UTSW	4	144272825	missense	probably damaging	1.00
R8993:Pramel5	UTSW	4	144272959	missense	possibly damaging	0.81
R9049:Pramel5	UTSW	4	144273916	missense	probably benign	0.02
R9402:Pramel5	UTSW	4	144271456	missense	probably benign	0.15
R9632:Pramel5	UTSW	4	144272975	missense	probably benign	0.15
R9710:Pramel5	UTSW	4	144272975	missense	probably benign	0.15
X0028:Pramel5	UTSW	4	144272836	missense	probably benign	0.00
Z1176:Pramel5	UTSW	4	144273860	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTTCCTGTAGGTCTGCAAG -3'
(R):5'- ATGAAGTCTGCTCTCAAGATGTC -3'

Sequencing Primer
(F):5'- CCTGTAGGTCTGCAAGGTCAG -3'
(R):5'- CTCTCAAGATGTCTTTGGCAAGAACC -3'

Posted On

2014-10-15