Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00503:Pamr1'

332495

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pamr1

Ensembl Gene

ENSMUSG00000027188

Gene Name

peptidase domain containing associated with muscle regeneration 1

Synonyms

RAMP, E430002G05Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

IGL00503

Quality Score

Status

Chromosome

Chromosomal Location

102550012-102643041 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102642272 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 639 (I639F)

Ref Sequence

ENSEMBL: ENSMUSP00000028612 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028612]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028612
AA Change: I639F

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028612
Gene: ENSMUSG00000027188
AA Change: I639F

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
EGF	84	126	1.18e1	SMART
CUB	128	236	1.07e-33	SMART
EGF	238	272	4.12e-7	SMART
CCP	280	342	1.3e-9	SMART
CCP	389	442	6.7e-3	SMART
Tryp_SPc	444	715	1.02e-34	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143071

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	T	A	18: 68,950,102	R14*	probably null	Het
Abcb5	A	G	12: 118,907,601	S688P	probably benign	Het
Adgb	T	A	10: 10,406,099	Q597L	possibly damaging	Het
Aga	G	A	8: 53,518,921	V210I	probably benign	Het
Akap17b	A	G	X: 36,612,310	S515P	probably damaging	Het
Brinp3	A	T	1: 146,901,167	T451S	probably benign	Het
Cabcoco1	G	T	10: 68,541,805	T18N	possibly damaging	Het
Ccar2	C	T	14: 70,142,531	W402*	probably null	Het
Ccdc15	G	A	9: 37,320,473	A185V	probably damaging	Het
Ccdc50	G	A	16: 27,409,352	E90K	probably damaging	Het
Cckbr	G	A	7: 105,434,242	M217I	probably benign	Het
Clec16a	A	G	16: 10,694,649	T398A	possibly damaging	Het
Col4a1	A	G	8: 11,240,076		probably benign	Het
Cyp4v3	T	A	8: 45,307,021	E498V	probably damaging	Het
Dgke	T	C	11: 89,041,501	I488V	probably benign	Het
Dip2c	A	G	13: 9,567,898	D443G	probably damaging	Het
Edem3	T	G	1: 151,818,513	S852A	probably benign	Het
Fbxo8	T	A	8: 56,588,023	M158K	probably benign	Het
Galnt15	C	T	14: 32,052,356	T359M	possibly damaging	Het
Herc6	A	G	6: 57,607,145	N330D	probably benign	Het
Kdf1	T	C	4: 133,528,157	S62P	probably damaging	Het
Larp4	T	A	15: 99,987,421	I51N	probably damaging	Het
Mfsd6l	T	A	11: 68,556,473	I50N	probably damaging	Het
Mroh2b	A	G	15: 4,899,197	Y4C	probably benign	Het
Muc3	G	T	5: 137,137,123	Y343*	probably null	Het
Myom2	A	C	8: 15,114,289		probably null	Het
Npat	A	T	9: 53,572,649		probably benign	Het
Pcsk2	A	G	2: 143,793,239	S345G	probably damaging	Het
Pcyt1a	A	G	16: 32,467,101	T197A	probably damaging	Het
Pkd1	A	G	17: 24,565,427	M316V	probably benign	Het
Plekhs1	T	C	19: 56,464,599		probably null	Het
Sema3e	G	T	5: 14,240,572	R557M	probably damaging	Het
Sgsm1	T	C	5: 113,276,142	N154S	probably benign	Het
Smg1	A	T	7: 118,185,483		probably benign	Het
Sp110	A	C	1: 85,577,329	F434C	probably benign	Het
Spats1	A	T	17: 45,454,085		probably null	Het
Tnfaip6	T	G	2: 52,055,847	V235G	probably damaging	Het
Trim34a	A	T	7: 104,261,331	T447S	probably damaging	Het
Tut1	G	A	19: 8,959,096	A95T	probably damaging	Het
Urgcp	C	T	11: 5,716,448	R630Q	possibly damaging	Het
Vmn1r125	G	T	7: 21,272,181	M1I	probably null	Het
Vmn2r99	A	G	17: 19,378,854	T267A	probably benign	Het
Wdr5	A	G	2: 27,520,867	K162E	probably benign	Het
Zscan26	T	G	13: 21,445,101	K285Q	probably damaging	Het

Other mutations in Pamr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00741:Pamr1	APN	2	102586621	missense	possibly damaging	0.62
IGL00928:Pamr1	APN	2	102639341	missense	probably benign	0.01
IGL01328:Pamr1	APN	2	102642137	missense	probably benign	0.00
IGL02621:Pamr1	APN	2	102634343	missense	probably benign	0.03
IGL02732:Pamr1	APN	2	102642141	missense	probably benign	0.03
R0020:Pamr1	UTSW	2	102642078	missense	probably benign	0.19
R0743:Pamr1	UTSW	2	102609907	missense	probably damaging	1.00
R1068:Pamr1	UTSW	2	102642245	missense	probably damaging	1.00
R1127:Pamr1	UTSW	2	102639353	missense	possibly damaging	0.81
R1711:Pamr1	UTSW	2	102640852	missense	probably benign	0.28
R1912:Pamr1	UTSW	2	102642300	missense	probably damaging	1.00
R1926:Pamr1	UTSW	2	102640997	splice site	probably null
R1937:Pamr1	UTSW	2	102642272	missense	possibly damaging	0.80
R2021:Pamr1	UTSW	2	102634535	missense	probably benign	0.00
R2023:Pamr1	UTSW	2	102634535	missense	probably benign	0.00
R4718:Pamr1	UTSW	2	102642336	missense	probably damaging	1.00
R4934:Pamr1	UTSW	2	102642204	missense	probably benign	0.21
R5268:Pamr1	UTSW	2	102586684	missense	probably damaging	0.98
R5450:Pamr1	UTSW	2	102639317	missense	probably damaging	0.98
R5864:Pamr1	UTSW	2	102634348	missense	possibly damaging	0.91
R6112:Pamr1	UTSW	2	102611608	missense	probably damaging	1.00
R6286:Pamr1	UTSW	2	102640948	nonsense	probably null
R6327:Pamr1	UTSW	2	102642174	missense	probably damaging	1.00
R6831:Pamr1	UTSW	2	102614931	missense	probably damaging	0.97
R6834:Pamr1	UTSW	2	102614931	missense	probably damaging	0.97
R6980:Pamr1	UTSW	2	102642204	missense	probably benign	0.21
R7000:Pamr1	UTSW	2	102611623	missense	probably damaging	1.00
R7073:Pamr1	UTSW	2	102640935	missense	probably benign	0.00
R7255:Pamr1	UTSW	2	102611584	missense	probably damaging	1.00
R7357:Pamr1	UTSW	2	102586704	nonsense	probably null
R7851:Pamr1	UTSW	2	102586600	missense	probably benign	0.02
X0067:Pamr1	UTSW	2	102639335	nonsense	probably null
Z1088:Pamr1	UTSW	2	102634446	missense	possibly damaging	0.84

Posted On

2015-08-05