Mutagenetix > Incidental Mutation

Incidental Mutation 'R9710:Pramel5'

730053

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: 0.136) question?

Stock #

R9710 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144270633-144280488 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144272975 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 181 (I181F)

Ref Sequence

ENSEMBL: ENSMUSP00000044222 (fasta)

Gene Model

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

AlphaFold

Q7TPY4

Predicted Effect

probably benign
Transcript: ENSMUST00000035757
AA Change: I181F

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000044222
Gene: ENSMUSG00000036749
AA Change: I181F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000105752
AA Change: I181F

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000101378
Gene: ENSMUSG00000036749
AA Change: I181F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	C	15: 82,062,651	S250P	probably benign	Het
A430105I19Rik	G	T	2: 118,760,596	A152E	probably benign	Het
Ahcyl1	T	A	3: 107,671,178	I248F	possibly damaging	Het
Alpk2	T	A	18: 65,349,575	E454V	probably damaging	Het
Ank3	A	T	10: 69,993,240	T2580S		Het
Anks1	G	A	17: 27,909,597	G46R	possibly damaging	Het
Arhgap45	A	G	10: 80,021,801	E322G	probably damaging	Het
Arhgef2	T	C	3: 88,621,269	I4T	probably benign	Het
C1qtnf4	T	C	2: 90,890,007	I208T	probably damaging	Het
Cachd1	T	A	4: 100,974,895	N751K	probably benign	Het
Cacna1a	G	T	8: 84,594,179	V1589F	possibly damaging	Het
Cacnb1	T	C	11: 98,011,371	H205R	probably benign	Het
Clvs2	C	A	10: 33,513,311	R311L	probably benign	Het
Crim1	G	T	17: 78,303,075	G320*	probably null	Het
Crtam	A	T	9: 40,984,375	D218E	probably benign	Het
Cwc27	G	A	13: 104,806,650	T128I	probably damaging	Het
Cyp4a14	T	A	4: 115,492,150	I238F	probably benign	Het
D930020B18Rik	A	C	10: 121,667,658	E246A	probably benign	Het
Dsg1c	T	A	18: 20,276,987	V504E	probably benign	Het
Enpp6	T	A	8: 47,065,913	S239T	probably damaging	Het
Eri2	A	T	7: 119,785,601	I559N	probably benign	Het
Fbxo34	T	C	14: 47,531,267	Y746H	probably damaging	Het
Galr1	A	T	18: 82,405,978	L58Q	probably damaging	Het
Gatsl3	A	G	11: 4,219,015	K61E	probably benign	Het
Ghdc	A	G	11: 100,768,037	V423A	probably benign	Het
Glt28d2	T	C	3: 85,871,752	D138G	probably benign	Het
Gm266	A	T	12: 111,485,329	C148S	probably benign	Het
Gm597	T	A	1: 28,778,039	Y304F	probably benign	Het
Gnas	C	T	2: 174,299,339	T493M	unknown	Het
Hivep2	T	C	10: 14,139,459	I1790T	probably damaging	Het
Impg1	A	G	9: 80,379,994	V390A	probably benign	Het
Isy1	A	G	6: 87,819,592	F239L	possibly damaging	Het
Itgb5	A	G	16: 33,865,547	T86A	probably benign	Het
Itpr1	T	C	6: 108,405,520	C1458R	possibly damaging	Het
Krt28	T	C	11: 99,365,095	E446G	probably damaging	Het
Lama1	A	T	17: 67,822,409	Q3071L		Het
Lasp1	A	G	11: 97,806,767		probably benign	Het
Lmf2	T	C	15: 89,353,216	K348E	probably benign	Het
Lrch3	G	T	16: 32,975,738	E331*	probably null	Het
Lzic	T	A	4: 149,488,684	F98I	probably damaging	Het
Map7d1	C	A	4: 126,233,647		probably null	Het
March8	C	T	6: 116,401,444	T113I	possibly damaging	Het
Mgrn1	A	T	16: 4,927,876	K423*	probably null	Het
Muc20	G	A	16: 32,794,896	T37I	possibly damaging	Het
Myh15	A	G	16: 49,138,681	E972G	probably damaging	Het
Myocd	T	A	11: 65,196,341	K253N	probably damaging	Het
Myod1	T	G	7: 46,377,151	L160R	probably damaging	Het
Nanog	T	C	6: 122,707,840	S20P	probably benign	Het
Nat8f2	A	T	6: 85,867,701	Y226*	probably null	Het
Nsmf	A	G	2: 25,059,065	K277R	probably null	Het
Nsrp1	C	T	11: 77,076,677	G30R	probably damaging	Het
Nsun6	C	A	2: 14,998,198	R389L	probably benign	Het
Obscn	G	A	11: 59,052,571	R4251C	probably benign	Het
Olfr1153	G	A	2: 87,896,558	D120N	probably damaging	Het
Olfr555	A	G	7: 102,659,234	T138A	probably damaging	Het
Olfr749	C	T	14: 50,736,742	C140Y	probably benign	Het
Olfr979	A	T	9: 40,000,876	M117K	probably damaging	Het
Pgm2	T	C	4: 99,986,721	L567P	probably damaging	Het
Polrmt	G	T	10: 79,740,701	H474N	probably benign	Het
Ppfia2	A	G	10: 106,829,024	I374V	probably benign	Het
Prpf4b	T	A	13: 34,899,887	Y880N	probably damaging	Het
Ptpn3	G	A	4: 57,249,957	Q180*	probably null	Het
Ptprc	T	C	1: 138,080,889	R687G	probably damaging	Het
Rnaseh2a	T	C	8: 84,958,009	T241A	probably damaging	Het
Rnf148	T	A	6: 23,654,803	I65F	possibly damaging	Het
Rnf213	A	G	11: 119,441,005	I2348V		Het
Rttn	A	G	18: 89,017,210	N736S	possibly damaging	Het
Ryr3	A	C	2: 112,803,189	V2093G	probably damaging	Het
Selenof	T	A	3: 144,577,609	F33L	probably benign	Het
Sh2d3c	C	T	2: 32,745,877	R238*	probably null	Het
Slc23a4	T	C	6: 34,946,300	K543R	probably benign	Het
Smn1	A	T	13: 100,135,702	N278I	possibly damaging	Het
Sox7	G	A	14: 63,948,060	A182T	probably benign	Het
Sptlc2	A	T	12: 87,312,759	I501N	probably benign	Het
Srf	T	C	17: 46,555,345	T162A	probably benign	Het
Srm	C	T	4: 148,591,582		probably benign	Het
Stim1	CAGCGCCTGACGGAGC	CAGC	7: 102,430,911		probably benign	Het
Taar8a	T	C	10: 24,076,816	L106P	probably damaging	Het
Tcte1	A	G	17: 45,539,872	H358R	possibly damaging	Het
Tmem205	A	G	9: 21,926,291	S20P	probably damaging	Het
Trav16	T	A	14: 53,743,453	V33E	possibly damaging	Het
Trf	T	A	9: 103,226,018	I149F	probably damaging	Het
Trmt2a	C	T	16: 18,252,177	Q419*	probably null	Het
Ttc19	A	G	11: 62,313,171	I319M	probably benign	Het
Txndc16	T	C	14: 45,163,010	I345V	probably benign	Het
Ube3b	T	C	5: 114,415,309	I914T	probably benign	Het
Ubr3	T	C	2: 69,897,613	F107L	possibly damaging	Het
Vmn1r73	T	C	7: 11,756,480	F75S	possibly damaging	Het
Vmn2r54	A	T	7: 12,629,826	M380K	possibly damaging	Het
Wdr7	T	A	18: 63,794,246	M989K	possibly damaging	Het
Zcchc3	A	G	2: 152,414,465	S105P	probably benign	Het
Zfp735	T	A	11: 73,710,980	V250E	possibly 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
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
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
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'- ACAATATGGGCTTCCTGTAGGTC -3'
(R):5'- GCTCTCAAGATGTCTTTGGCAAG -3'

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

Posted On

2022-10-06