Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00741:Pamr1'

12901

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

E430002G05Rik, RAMP

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

IGL00741

Quality Score

Status

Chromosome

Chromosomal Location

102380357-102473386 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 102416966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 93 (S93R)

Ref Sequence

ENSEMBL: ENSMUSP00000028612 (fasta)

Gene Model

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

AlphaFold

Q8BU25

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028612
AA Change: S93R

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000028612
Gene: ENSMUSG00000027188
AA Change: S93R

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: ENSMUST00000144333

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	A	6: 40,941,768 (GRCm39)		probably benign	Het
Abcc9	A	C	6: 142,632,956 (GRCm39)	V262G	probably benign	Het
Adamtsl1	T	C	4: 86,195,185 (GRCm39)	V534A	probably damaging	Het
Arhgap31	A	G	16: 38,423,363 (GRCm39)	V901A	probably damaging	Het
C3	A	G	17: 57,527,206 (GRCm39)		probably benign	Het
Chd7	T	C	4: 8,839,454 (GRCm39)	V1330A	probably damaging	Het
Dop1a	A	G	9: 86,404,859 (GRCm39)	T255A	possibly damaging	Het
Eef1a2	T	C	2: 180,794,803 (GRCm39)	Q132R	possibly damaging	Het
Tacc3	A	G	5: 33,826,984 (GRCm39)	Y531C	probably damaging	Het
Tcerg1	A	G	18: 42,701,518 (GRCm39)	E860G	possibly damaging	Het
Tmco4	T	A	4: 138,723,885 (GRCm39)		probably null	Het
Zfyve16	A	G	13: 92,660,761 (GRCm39)	L16P	probably damaging	Het

Other mutations in Pamr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Pamr1	APN	2	102,472,617 (GRCm39)	missense	possibly damaging	0.80
IGL00928:Pamr1	APN	2	102,469,686 (GRCm39)	missense	probably benign	0.01
IGL01328:Pamr1	APN	2	102,472,482 (GRCm39)	missense	probably benign	0.00
IGL02621:Pamr1	APN	2	102,464,688 (GRCm39)	missense	probably benign	0.03
IGL02732:Pamr1	APN	2	102,472,486 (GRCm39)	missense	probably benign	0.03
R0020:Pamr1	UTSW	2	102,472,423 (GRCm39)	missense	probably benign	0.19
R0743:Pamr1	UTSW	2	102,440,252 (GRCm39)	missense	probably damaging	1.00
R1068:Pamr1	UTSW	2	102,472,590 (GRCm39)	missense	probably damaging	1.00
R1127:Pamr1	UTSW	2	102,469,698 (GRCm39)	missense	possibly damaging	0.81
R1711:Pamr1	UTSW	2	102,471,197 (GRCm39)	missense	probably benign	0.28
R1912:Pamr1	UTSW	2	102,472,645 (GRCm39)	missense	probably damaging	1.00
R1926:Pamr1	UTSW	2	102,471,342 (GRCm39)	splice site	probably null
R1937:Pamr1	UTSW	2	102,472,617 (GRCm39)	missense	possibly damaging	0.80
R2021:Pamr1	UTSW	2	102,464,880 (GRCm39)	missense	probably benign	0.00
R2023:Pamr1	UTSW	2	102,464,880 (GRCm39)	missense	probably benign	0.00
R4718:Pamr1	UTSW	2	102,472,681 (GRCm39)	missense	probably damaging	1.00
R4934:Pamr1	UTSW	2	102,472,549 (GRCm39)	missense	probably benign	0.21
R5268:Pamr1	UTSW	2	102,417,029 (GRCm39)	missense	probably damaging	0.98
R5450:Pamr1	UTSW	2	102,469,662 (GRCm39)	missense	probably damaging	0.98
R5864:Pamr1	UTSW	2	102,464,693 (GRCm39)	missense	possibly damaging	0.91
R6112:Pamr1	UTSW	2	102,441,953 (GRCm39)	missense	probably damaging	1.00
R6286:Pamr1	UTSW	2	102,471,293 (GRCm39)	nonsense	probably null
R6327:Pamr1	UTSW	2	102,472,519 (GRCm39)	missense	probably damaging	1.00
R6831:Pamr1	UTSW	2	102,445,276 (GRCm39)	missense	probably damaging	0.97
R6834:Pamr1	UTSW	2	102,445,276 (GRCm39)	missense	probably damaging	0.97
R6980:Pamr1	UTSW	2	102,472,549 (GRCm39)	missense	probably benign	0.21
R7000:Pamr1	UTSW	2	102,441,968 (GRCm39)	missense	probably damaging	1.00
R7073:Pamr1	UTSW	2	102,471,280 (GRCm39)	missense	probably benign	0.00
R7255:Pamr1	UTSW	2	102,441,929 (GRCm39)	missense	probably damaging	1.00
R7357:Pamr1	UTSW	2	102,417,049 (GRCm39)	nonsense	probably null
R7851:Pamr1	UTSW	2	102,416,945 (GRCm39)	missense	probably benign	0.02
R8745:Pamr1	UTSW	2	102,441,924 (GRCm39)	missense	probably damaging	1.00
R8766:Pamr1	UTSW	2	102,380,538 (GRCm39)	start codon destroyed	probably null	0.90
R8817:Pamr1	UTSW	2	102,464,766 (GRCm39)	missense	probably benign	0.05
R8964:Pamr1	UTSW	2	102,464,811 (GRCm39)	missense	possibly damaging	0.65
R8977:Pamr1	UTSW	2	102,441,963 (GRCm39)	missense	probably damaging	0.96
R9081:Pamr1	UTSW	2	102,441,933 (GRCm39)	missense	probably damaging	1.00
R9139:Pamr1	UTSW	2	102,464,766 (GRCm39)	missense	probably benign	0.19
X0067:Pamr1	UTSW	2	102,469,680 (GRCm39)	nonsense	probably null
Z1088:Pamr1	UTSW	2	102,464,791 (GRCm39)	missense	possibly damaging	0.84

Posted On

2012-12-06