Mutagenetix > Incidental Mutation

Incidental Mutation 'R9139:Pamr1'

694193

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

Accession Numbers

Essential gene?

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

Stock #

R9139 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102380357-102473386 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102464766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 305 (V305E)

Ref Sequence

ENSEMBL: ENSMUSP00000028612 (fasta)

Gene Model

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

AlphaFold

Q8BU25

Predicted Effect

probably benign
Transcript: ENSMUST00000028612
AA Change: V305E

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000028612
Gene: ENSMUSG00000027188
AA Change: V305E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,320,705 (GRCm39)	V288A	possibly damaging	Het
Ankhd1	T	A	18: 36,711,810 (GRCm39)	S135R		Het
Axl	G	A	7: 25,460,846 (GRCm39)	T721I	probably damaging	Het
Blnk	G	A	19: 40,922,962 (GRCm39)	A388V	probably benign	Het
C8b	T	C	4: 104,641,631 (GRCm39)	V189A	probably damaging	Het
Ccdc33	G	C	9: 57,983,842 (GRCm39)	I452M	probably benign	Het
Cfap57	T	C	4: 118,412,048 (GRCm39)	T1199A	probably benign	Het
Chga	G	A	12: 102,528,144 (GRCm39)	V212M	probably benign	Het
Cspp1	T	A	1: 10,186,875 (GRCm39)	M887K	probably damaging	Het
Cyp3a16	G	C	5: 145,406,434 (GRCm39)	A6G	unknown	Het
Cyp4f17	G	T	17: 32,743,868 (GRCm39)	E349*	probably null	Het
Dnajc13	A	T	9: 104,085,039 (GRCm39)	D791E	probably benign	Het
Dpysl5	T	C	5: 30,935,397 (GRCm39)	Y167H	probably benign	Het
Dqx1	G	T	6: 83,036,759 (GRCm39)	Q254H	possibly damaging	Het
Eef1g	A	G	19: 8,955,383 (GRCm39)	T411A	probably benign	Het
Fancl	C	A	11: 26,337,231 (GRCm39)	A6E	probably benign	Het
Gabrr3	A	G	16: 59,227,830 (GRCm39)	Q29R	probably benign	Het
Gtf2h2	A	C	13: 100,617,778 (GRCm39)	L168R	probably damaging	Het
Hacl1	T	A	14: 31,338,338 (GRCm39)	Q413L	probably benign	Het
Hdc	A	T	2: 126,439,837 (GRCm39)	V372E	probably damaging	Het
Hr	A	T	14: 70,795,079 (GRCm39)	H208L	possibly damaging	Het
Htr6	T	C	4: 138,789,501 (GRCm39)	R255G	possibly damaging	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Kank2	A	G	9: 21,681,370 (GRCm39)	V747A	probably damaging	Het
Kif5c	A	G	2: 49,620,291 (GRCm39)	T508A	probably benign	Het
Klhdc8b	A	G	9: 108,326,927 (GRCm39)	V145A	probably damaging	Het
Klk1b21	T	A	7: 43,754,924 (GRCm39)	V73D	probably damaging	Het
Ksr1	T	A	11: 78,911,572 (GRCm39)	M737L	probably benign	Het
Macf1	T	C	4: 123,328,564 (GRCm39)	Y4723C	probably damaging	Het
Mcm7	T	C	5: 138,167,397 (GRCm39)	Y182C	probably damaging	Het
Mtf2	T	C	5: 108,252,398 (GRCm39)		probably null	Het
Nrxn2	A	T	19: 6,498,299 (GRCm39)	T255S	probably benign	Het
Or10v9	A	G	19: 11,832,666 (GRCm39)	L217P	probably damaging	Het
Or10x4	A	T	1: 174,218,649 (GRCm39)	T5S	probably damaging	Het
Or11g25	T	C	14: 50,723,707 (GRCm39)	L264P	probably damaging	Het
Or2z2	T	A	11: 58,345,999 (GRCm39)	T259S	possibly damaging	Het
Or52k2	T	A	7: 102,254,185 (GRCm39)	I208N	probably damaging	Het
Or9m1	A	T	2: 87,733,108 (GRCm39)	M304K	probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Peg10	C	T	6: 4,757,128 (GRCm39)	T568M	unknown	Het
Polr3a	A	G	14: 24,519,416 (GRCm39)	F664S	probably damaging	Het
Prb1a	T	A	6: 132,185,306 (GRCm39)	N109I	unknown	Het
Prdm2	T	C	4: 142,858,752 (GRCm39)	I1513V	probably benign	Het
Prkd3	A	C	17: 79,269,969 (GRCm39)	V564G	possibly damaging	Het
Prss16	A	G	13: 22,192,513 (GRCm39)	S151P	probably damaging	Het
Rnf150	C	T	8: 83,590,588 (GRCm39)		probably benign	Het
Rttn	A	G	18: 89,038,261 (GRCm39)	T786A	probably benign	Het
Scin	A	G	12: 40,113,236 (GRCm39)	V645A	possibly damaging	Het
Slc25a20	T	A	9: 108,557,398 (GRCm39)	M177K	probably benign	Het
Slc2a6	G	A	2: 26,914,334 (GRCm39)	S261L	possibly damaging	Het
Slc4a7	A	T	14: 14,796,115 (GRCm38)	D1118V	probably damaging	Het
Slc7a2	T	C	8: 41,358,709 (GRCm39)	W351R	probably damaging	Het
Sp8	G	A	12: 118,812,174 (GRCm39)	G10S	probably damaging	Het
St8sia2	A	G	7: 73,616,513 (GRCm39)	I175T	probably damaging	Het
Tas2r122	T	A	6: 132,688,779 (GRCm39)	N38I	probably benign	Het
Trim31	C	T	17: 37,209,382 (GRCm39)	T46M	possibly damaging	Het
Trim31	A	G	17: 37,220,145 (GRCm39)	K354E	probably benign	Het
Trio	G	A	15: 27,749,922 (GRCm39)	Q2260*	probably null	Het
Trpm1	T	C	7: 63,848,943 (GRCm39)	I63T	probably benign	Het
Ugt2b37	T	C	5: 87,399,636 (GRCm39)	K291E	probably benign	Het
Usp54	T	C	14: 20,627,162 (GRCm39)	T499A	probably benign	Het
Vmn1r35	T	C	6: 66,655,933 (GRCm39)	I246V	probably benign	Het
Vmn2r6	A	G	3: 64,464,277 (GRCm39)	S186P	probably benign	Het
Vmn2r76	T	A	7: 85,879,170 (GRCm39)	M377L	probably benign	Het
Zeb2	A	C	2: 44,878,637 (GRCm39)	M1243R	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
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
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'- CTTCCAAGCACTGCTGTTAGC -3'
(R):5'- ACCTGTCAAAGAGTATGTACATCTG -3'

Sequencing Primer
(F):5'- AGCAGGCTCTCTGTCAATG -3'
(R):5'- CTGTAGAATCCAGAAATGTCCGTG -3'

Posted On

2022-01-20