Mutagenetix > Incidental Mutation

Incidental Mutation 'R2021:Pamr1'

223935

Institutional Source

Beutler Lab

Gene Symbol

Pamr1

Ensembl Gene

ENSMUSG00000027188

Gene Name

peptidase domain containing associated with muscle regeneration 1

Synonyms

E430002G05Rik, RAMP

MMRRC Submission

040030-MU

Accession Numbers

Essential gene?

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

Stock #

R2021 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102380357-102473386 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102464880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 343 (M343K)

Ref Sequence

ENSEMBL: ENSMUSP00000028612 (fasta)

Gene Model

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

AlphaFold

Q8BU25

Predicted Effect

probably benign
Transcript: ENSMUST00000028612
AA Change: M343K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000028612
Gene: ENSMUSG00000027188
AA Change: M343K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144333

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,035,450 (GRCm39)	S316T	probably damaging	Het
Alox8	C	T	11: 69,077,114 (GRCm39)	V460I	probably damaging	Het
Aoc1l2	T	C	6: 48,908,385 (GRCm39)	S462P	probably damaging	Het
Arvcf	G	A	16: 18,218,482 (GRCm39)	A491T	probably damaging	Het
Asnsd1	A	G	1: 53,386,386 (GRCm39)	S414P	possibly damaging	Het
Btbd7	A	G	12: 102,756,968 (GRCm39)	L706P	probably damaging	Het
Camk2d	T	A	3: 126,574,105 (GRCm39)	W171R	probably damaging	Het
Casc3	T	A	11: 98,712,332 (GRCm39)	S124T	probably benign	Het
Casp8ap2	T	C	4: 32,644,560 (GRCm39)	V1211A	probably benign	Het
Ccdc182	T	C	11: 88,184,962 (GRCm39)	V14A	possibly damaging	Het
Ccdc80	A	T	16: 44,943,275 (GRCm39)	Q795L	probably damaging	Het
Ccdc88a	T	G	11: 29,453,480 (GRCm39)	S1614R	probably damaging	Het
Cemip2	G	A	19: 21,822,114 (GRCm39)	A1170T	possibly damaging	Het
Clcn6	A	G	4: 148,095,109 (GRCm39)		probably null	Het
Cubn	A	G	2: 13,313,360 (GRCm39)	V3070A	probably benign	Het
Dst	G	A	1: 34,205,372 (GRCm39)	V1025I	possibly damaging	Het
Dynlt4	A	G	4: 116,985,504 (GRCm39)	E109G	possibly damaging	Het
Elk3	T	A	10: 93,101,539 (GRCm39)	I71F	probably damaging	Het
Flt3	A	T	5: 147,306,300 (GRCm39)	I276N	probably damaging	Het
Frem1	G	T	4: 82,831,795 (GRCm39)	T1988K	probably benign	Het
Golph3l	T	A	3: 95,524,668 (GRCm39)	D306E	probably benign	Het
Grk2	T	A	19: 4,340,698 (GRCm39)	I254F	probably damaging	Het
Hgf	C	T	5: 16,781,919 (GRCm39)	T214I	probably benign	Het
Hoxc5	C	A	15: 102,922,814 (GRCm39)		probably null	Het
Hsd11b1	T	C	1: 192,922,686 (GRCm39)	T124A	probably benign	Het
Ipp	A	G	4: 116,372,565 (GRCm39)	Y198C	probably benign	Het
Ism1	T	A	2: 139,582,047 (GRCm39)		probably null	Het
Klhl42	A	G	6: 146,993,394 (GRCm39)	Y122C	possibly damaging	Het
Klk1b21	A	T	7: 43,755,418 (GRCm39)	K206*	probably null	Het
Lcn11	A	G	2: 25,668,097 (GRCm39)	K85R	probably benign	Het
Macf1	G	T	4: 123,366,523 (GRCm39)	A2746E	probably damaging	Het
Matn4	A	G	2: 164,242,573 (GRCm39)	V175A	probably damaging	Het
Myh2	A	T	11: 67,082,545 (GRCm39)	N1372Y	probably damaging	Het
Ncl	A	G	1: 86,284,677 (GRCm39)		probably null	Het
Nudt2	A	G	4: 41,480,255 (GRCm39)	D46G	probably damaging	Het
Obscn	C	T	11: 58,958,000 (GRCm39)	D3567N	probably benign	Het
Or1j17	G	C	2: 36,578,487 (GRCm39)	V158L	probably benign	Het
Or2z9	G	T	8: 72,853,930 (GRCm39)	V109F	possibly damaging	Het
Or4a72	A	T	2: 89,405,305 (GRCm39)	M255K	possibly damaging	Het
Pcdh15	T	G	10: 74,467,025 (GRCm39)	S1684A	possibly damaging	Het
Ppm1h	T	A	10: 122,714,433 (GRCm39)	L324*	probably null	Het
Ppp3r2	T	C	4: 49,681,723 (GRCm39)	I76V	probably benign	Het
Prkdc	G	A	16: 15,494,873 (GRCm39)	V748I	probably benign	Het
Prss47	A	G	13: 65,199,591 (GRCm39)	V96A	probably benign	Het
Rsbn1	C	T	3: 103,821,789 (GRCm39)	T8I	probably benign	Het
Rsf1	GGCG	GGCGACGGCGGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Serpinb3d	A	G	1: 107,006,182 (GRCm39)	V302A	probably benign	Het
Sfrp4	A	T	13: 19,816,496 (GRCm39)	I177F	probably benign	Het
Sh3bp2	A	G	5: 34,701,569 (GRCm39)		probably benign	Het
Slc7a12	A	G	3: 14,562,393 (GRCm39)	T257A	probably damaging	Het
Spata31e5	A	T	1: 28,817,234 (GRCm39)	V266D	probably damaging	Het
Specc1l	T	C	10: 75,103,425 (GRCm39)		probably null	Het
Stard9	A	G	2: 120,534,716 (GRCm39)	T3658A	probably benign	Het
Styxl2	A	T	1: 165,928,392 (GRCm39)	W407R	probably benign	Het
Tmem30c	T	C	16: 57,101,725 (GRCm39)	T68A	probably damaging	Het
Tnr	A	G	1: 159,679,592 (GRCm39)	I189V	probably benign	Het
Trrap	A	G	5: 144,790,298 (GRCm39)	N3586S	possibly damaging	Het
Usp14	T	C	18: 10,024,632 (GRCm39)	T22A	probably damaging	Het
Vmn1r68	A	G	7: 10,261,918 (GRCm39)	L60P	probably damaging	Het
Vmn2r108	G	A	17: 20,691,252 (GRCm39)	H424Y	probably benign	Het
Wdr81	C	A	11: 75,336,788 (GRCm39)	E1534*	probably null	Het
Zc3h13	A	G	14: 75,567,635 (GRCm39)	E976G	probably damaging	Het
Zfp128	T	C	7: 12,623,956 (GRCm39)	L108P	possibly damaging	Het
Zfp644	T	C	5: 106,783,548 (GRCm39)	I1000V	possibly 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
IGL00741:Pamr1	APN	2	102,416,966 (GRCm39)	missense	possibly damaging	0.62
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
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

Predicted Primers

PCR Primer
(F):5'- AAACTGCTCAGACCTTGGG -3'
(R):5'- TAGCATCTTCCCCAAACTGC -3'

Sequencing Primer
(F):5'- AAGGTCCTGGACTTCTCA -3'
(R):5'- TGAAGACTTCTTGGGACCCAG -3'

Posted On

2014-08-25