Mutagenetix > Incidental Mutation

Incidental Mutation 'R8247:Pramel5'

640694

Institutional Source

Beutler Lab

Gene Symbol

Pramel5

Ensembl Gene

ENSMUSG00000036749

Gene Name

preferentially expressed antigen in melanoma like 5

Synonyms

OTTMUSG00000010540

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R8247 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144270633-144280488 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144272825 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 231 (M231L)

Ref Sequence

ENSEMBL: ENSMUSP00000044222 (fasta)

Gene Model

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

AlphaFold

Q7TPY4

Predicted Effect

probably damaging
Transcript: ENSMUST00000035757
AA Change: M231L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000044222
Gene: ENSMUSG00000036749
AA Change: M231L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105752
AA Change: M231L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101378
Gene: ENSMUSG00000036749
AA Change: M231L

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

Meta Mutation Damage Score

0.5688

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	T	C	6: 52,178,962	S3P	unknown	Het
Abca15	A	T	7: 120,337,222	Y170F	possibly damaging	Het
Alpl	C	T	4: 137,746,453	V313M	probably damaging	Het
Ankrd44	T	C	1: 54,752,943	H311R	probably damaging	Het
Atm	A	T	9: 53,450,570	L2749Q		Het
Bicd2	C	T	13: 49,379,986	R683W	probably damaging	Het
Brat1	C	A	5: 140,713,138	P342T	possibly damaging	Het
Camta1	T	A	4: 151,075,264	T482S	probably damaging	Het
Carhsp1	A	G	16: 8,663,671	V67A	probably damaging	Het
Ccdc126	C	T	6: 49,339,841	T85M	probably damaging	Het
Cd274	C	T	19: 29,385,395	Q286*	probably null	Het
Cep192	T	A	18: 67,841,117	I1097N	probably benign	Het
Clvs1	A	T	4: 9,281,885	N110Y	possibly damaging	Het
Cntln	A	G	4: 85,100,780	T102A	probably benign	Het
Cp	A	C	3: 19,966,406	I188L	possibly damaging	Het
Crh	A	G	3: 19,694,127	L117P	probably benign	Het
Dennd2c	A	G	3: 103,152,321	D521G	probably damaging	Het
E2f2	C	T	4: 136,172,815	T12M	possibly damaging	Het
Eid2	G	A	7: 28,268,547	R198H	probably damaging	Het
Exosc4	G	T	15: 76,329,079	C74F	probably damaging	Het
Fanca	A	T	8: 123,283,955		probably benign	Het
Ganc	A	T	2: 120,436,700	Q499L	probably null	Het
Gfy	T	C	7: 45,178,286	T129A	possibly damaging	Het
Gli3	G	T	13: 15,726,775	M1582I	possibly damaging	Het
Gm4744	A	G	6: 40,949,468	S63P		Het
Htr2b	T	C	1: 86,100,095	T230A	probably benign	Het
Iqcb1	T	A	16: 36,858,474	N383K	probably benign	Het
Lpcat1	A	T	13: 73,513,952	I471F	probably damaging	Het
Lrch3	T	G	16: 33,009,343	L781*	probably null	Het
Lrif1	T	A	3: 106,734,376	S3T	probably damaging	Het
Lrp2	T	A	2: 69,431,087	R4503S	possibly damaging	Het
Lrrc16a	T	A	13: 24,099,015	N512I	probably damaging	Het
Lrrc8c	T	C	5: 105,608,444	I695T	probably damaging	Het
Mak	G	A	13: 41,039,670	T473M	possibly damaging	Het
Map2k5	A	T	9: 63,371,737	Y62N	probably damaging	Het
Mbd3l2	T	C	9: 18,445,003	L208P	probably damaging	Het
Myo18b	T	C	5: 112,692,196	E2577G	probably damaging	Het
Nfia	A	T	4: 98,065,407	T461S	probably benign	Het
Oaz3	A	G	3: 94,436,434	Y41H	probably damaging	Het
Olfr1368	A	G	13: 21,142,125	S311P	probably benign	Het
Olfr509	T	A	7: 108,646,163	I138F	probably damaging	Het
Olfr59	C	A	11: 74,289,489	T281K	noncoding transcript	Het
Olfr631	T	C	7: 103,929,576	V251A	possibly damaging	Het
Pin1rt1	T	C	2: 104,714,547	E80G	probably damaging	Het
Pmpcb	T	C	5: 21,756,854	Y457H	probably damaging	Het
Polr2b	T	C	5: 77,320,215	S121P	possibly damaging	Het
Ppm1e	C	T	11: 87,231,275	G619R	probably benign	Het
Prex2	G	T	1: 11,199,970	C1293F	probably benign	Het
Psg20	A	G	7: 18,682,637	F185L	probably benign	Het
Psg28	A	G	7: 18,422,939	V457A	probably benign	Het
Pxmp2	A	G	5: 110,274,579	L188P	probably damaging	Het
Scd3	A	T	19: 44,238,564	N279I	possibly damaging	Het
Scg2	T	G	1: 79,436,519	K162N	possibly damaging	Het
Sipa1l2	T	C	8: 125,422,633	E1629G	probably benign	Het
Slc27a2	T	A	2: 126,553,595	F147L	probably benign	Het
Smco1	T	C	16: 32,273,739	V76A	probably benign	Het
Spic	T	C	10: 88,676,061	K111R	probably damaging	Het
Spidr	A	G	16: 15,968,526		probably null	Het
Sptbn1	T	A	11: 30,113,906	I1971F	possibly damaging	Het
Stard8	C	T	X: 99,065,964	S155L	probably benign	Het
Tex33	A	C	15: 78,378,792	S221A	probably benign	Het
Tiam1	G	A	16: 89,898,149	T140M	probably benign	Het
Ttc28	G	A	5: 111,233,341	D1240N	probably benign	Het
Ufl1	T	C	4: 25,250,606	E749G	probably benign	Het
Vmn1r168	G	T	7: 23,541,062	V115F	possibly damaging	Het
Vprbp	A	T	9: 106,854,228	I635F	possibly damaging	Het
Wars2	G	A	3: 99,187,649	V87I	probably benign	Het
Zdhhc14	T	A	17: 5,685,756	C170S	probably damaging	Het
Zfp113	C	T	5: 138,145,034	C318Y	possibly damaging	Het
Zfp367	A	G	13: 64,152,668	S108P	probably benign	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
R2240:Pramel5	UTSW	4	144272936	nonsense	probably null
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
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'- AGCATTTGGTCCAGGCGTTC -3'
(R):5'- AGTACTGCCGACATTCTAAATACC -3'

Sequencing Primer
(F):5'- CAGGCGTTCTTTCAGGAAGTAGAC -3'
(R):5'- ACCTAAACTATTTGCATTGGTGGGC -3'

Posted On

2020-07-28