Mutagenetix > Incidental Mutation

Incidental Mutation 'R9049:Pramel5'

688230

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 #

R9049 (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 C at 144273916 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 30 (N30S)

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: N30S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000044222
Gene: ENSMUSG00000036749
AA Change: N30S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000105752
AA Change: N30S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000101378
Gene: ENSMUSG00000036749
AA Change: N30S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,061,038	Y323C	probably benign	Het
3110009E18Rik	A	G	1: 120,188,170	I118V	probably null	Het
3110043O21Rik	A	G	4: 35,192,964	I455T	unknown	Het
Abcc9	A	G	6: 142,682,932	L362P	probably damaging	Het
Adam7	C	A	14: 68,525,225	V184F	probably benign	Het
Adgre4	T	C	17: 55,785,094	I118T	probably benign	Het
Akap9	T	C	5: 4,064,597	L3292P		Het
Akr1b10	A	G	6: 34,396,626	E308G	possibly damaging	Het
Ash1l	T	C	3: 89,007,364	V1767A	probably benign	Het
Bpifb3	C	A	2: 153,925,890	N294K	probably benign	Het
Bpifb5	A	G	2: 154,228,176	N182S	probably benign	Het
Camkmt	A	G	17: 85,402,484	I205M	possibly damaging	Het
Ccdc88b	C	T	19: 6,849,074	R1091Q	probably benign	Het
Cfap58	A	T	19: 48,026,718		probably null	Het
Clca1	T	A	3: 145,027,382	I122L	probably benign	Het
Col6a3	T	A	1: 90,779,344	S2623C	unknown	Het
Cpne5	A	G	17: 29,160,358	S484P	probably damaging	Het
Cyp4f39	T	A	17: 32,486,991	L352Q	probably damaging	Het
Dcun1d1	T	C	3: 35,897,849	N183D	probably benign	Het
Dgkg	A	G	16: 22,600,588	V54A	probably benign	Het
Dnah12	T	A	14: 26,722,120	D561E	probably benign	Het
Dnah6	A	C	6: 73,142,292	L1536R	probably damaging	Het
Gm15448	T	A	7: 3,816,891	T676S	unknown	Het
Gm21834	G	A	17: 57,741,831	T130I	possibly damaging	Het
Hectd4	T	A	5: 121,313,892	V434E	possibly damaging	Het
Htr3a	C	A	9: 48,899,787	V459L	probably damaging	Het
Lonp2	T	C	8: 86,709,107	V657A	probably benign	Het
Mdfi	C	A	17: 47,824,554	V84L	probably damaging	Het
Mdm1	C	T	10: 118,146,700	T80M	probably benign	Het
Muc5ac	A	C	7: 141,808,975	I2008L	unknown	Het
Nomo1	A	G	7: 46,066,173	D681G	probably benign	Het
Olfr1030	A	G	2: 85,983,891	E17G	possibly damaging	Het
Olfr127	G	A	17: 37,903,873	W109*	probably null	Het
Olfr193	T	G	16: 59,110,400	D70A	probably damaging	Het
Olfr366	C	G	2: 37,219,947	H153D	probably damaging	Het
Olfr406	A	G	11: 74,270,289	K300R	possibly damaging	Het
Olfr860	T	C	9: 19,845,749	Y290C	probably damaging	Het
Olfr979	G	T	9: 40,000,623	N201K	possibly damaging	Het
Pip5k1c	C	A	10: 81,316,876		probably benign	Het
Pipox	A	G	11: 77,881,554	I330T	probably damaging	Het
Pld3	C	T	7: 27,535,868	V312M	possibly damaging	Het
Pnisr	T	A	4: 21,854,391	W12R	unknown	Het
Polr3e	A	G	7: 120,939,239	K410R	probably benign	Het
Ppif	G	T	14: 25,694,412	V61L	possibly damaging	Het
Prex2	T	G	1: 11,185,906	L1167R	probably damaging	Het
Prkacb	A	T	3: 146,755,763		probably benign	Het
Prl3a1	T	A	13: 27,276,184	L217H	probably damaging	Het
Prop1	G	C	11: 50,952,121	Q80E	probably damaging	Het
Psma1	T	C	7: 114,266,529	I214V	probably benign	Het
Ptgfr	T	A	3: 151,835,767	I35F	probably benign	Het
Rcvrn	A	T	11: 67,695,742	Y109F	probably benign	Het
Repin1	A	G	6: 48,597,712	D525G	possibly damaging	Het
Slc12a2	A	T	18: 57,921,791	R835*	probably null	Het
Sqle	T	C	15: 59,317,862	F118L	probably benign	Het
Stard9	A	T	2: 120,679,937	Y333F	probably benign	Het
Tbc1d16	G	A	11: 119,209,264	R95C	probably damaging	Het
Tln1	C	A	4: 43,549,786	E542*	probably null	Het
Tmem161b	G	T	13: 84,294,635	A407S	probably benign	Het
Tnc	G	T	4: 64,000,010	D1221E	possibly damaging	Het
Tnks	T	C	8: 34,841,778	K1109R	probably damaging	Het
Tpp2	T	C	1: 43,953,342	V194A	possibly damaging	Het
Ust	G	A	10: 8,307,454	Q162*	probably null	Het
Utp15	T	C	13: 98,259,270	Y68C	probably damaging	Het
Vcan	A	T	13: 89,678,105	H3193Q	probably damaging	Het
Vmn2r55	T	C	7: 12,684,981	Y4C	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
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
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'- TGTGACATCAGCAAATCAAGGCC -3'
(R):5'- AGTGATTGGTCCTCTGCCTG -3'

Sequencing Primer
(F):5'- AGGCCATCTAGTACAGCTTTCAGG -3'
(R):5'- ATTGGTCCTCTGCCTGGTTTATG -3'

Posted On

2021-11-19