Mutagenetix > Incidental Mutation

Incidental Mutation 'R0743:Pamr1'

70758

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

038924-MU

Accession Numbers

Essential gene?

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

Stock #

R0743 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102380357-102473386 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102440252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 142 (E142G)

Ref Sequence

ENSEMBL: ENSMUSP00000028612 (fasta)

Gene Model

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

AlphaFold

Q8BU25

Predicted Effect

probably damaging
Transcript: ENSMUST00000028612
AA Change: E142G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028612
Gene: ENSMUSG00000027188
AA Change: E142G

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

1x: 99.2%
3x: 98.6%
10x: 96.7%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,790,700 (GRCm39)	I844N	possibly damaging	Het
Bend7	A	T	2: 4,749,055 (GRCm39)	K57N	probably damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Cfap91	A	G	16: 38,155,996 (GRCm39)	F76L	probably damaging	Het
Csmd2	A	T	4: 128,007,469 (GRCm39)	T149S	probably benign	Het
Cyp2a12	T	C	7: 26,731,967 (GRCm39)	I236T	probably benign	Het
Dennd2b	A	G	7: 109,156,552 (GRCm39)	L66P	probably damaging	Het
Dnase1l2	A	G	17: 24,660,854 (GRCm39)	V170A	possibly damaging	Het
Dnm2	T	A	9: 21,411,561 (GRCm39)	Y597N	probably damaging	Het
Epsti1	A	T	14: 78,168,715 (GRCm39)	R117S	probably damaging	Het
Gabarapl2	A	T	8: 112,669,137 (GRCm39)	I32F	probably damaging	Het
Glrb	T	A	3: 80,786,987 (GRCm39)	I59F	probably damaging	Het
Gosr1	A	G	11: 76,620,972 (GRCm39)	I239T	probably benign	Het
Kif5b	G	T	18: 6,209,192 (GRCm39)	R857S	probably damaging	Het
Kmt5a	C	A	5: 124,585,282 (GRCm39)	N44K	probably damaging	Het
Ksr1	A	T	11: 78,912,329 (GRCm39)	H675Q	possibly damaging	Het
Mep1b	A	G	18: 21,213,515 (GRCm39)	D68G	possibly damaging	Het
Nebl	A	C	2: 17,415,929 (GRCm39)	S327A	probably benign	Het
Nfat5	G	A	8: 108,094,698 (GRCm39)	E962K	probably damaging	Het
Nfatc4	A	C	14: 56,064,101 (GRCm39)	D126A	probably damaging	Het
Nmt2	A	T	2: 3,315,822 (GRCm39)	R271*	probably null	Het
Nol7	G	A	13: 43,554,091 (GRCm39)	V133I	probably benign	Het
Npepps	A	G	11: 97,096,884 (GRCm39)		probably benign	Het
Nphp3	GCATCATCATCATCATC	GCATCATCATCATC	9: 103,899,967 (GRCm39)		probably benign	Het
Or1e1c	A	T	11: 73,265,715 (GRCm39)	I47F	probably benign	Het
Or51ag1	C	T	7: 103,156,069 (GRCm39)	W28*	probably null	Het
Or6c66	T	A	10: 129,461,712 (GRCm39)	T73S	probably benign	Het
Or8h10	G	A	2: 86,808,843 (GRCm39)	T99I	probably benign	Het
Ovgp1	T	A	3: 105,882,248 (GRCm39)	L37H	probably damaging	Het
Padi3	G	T	4: 140,513,740 (GRCm39)	A646D	probably benign	Het
Papolg	A	T	11: 23,820,818 (GRCm39)		probably null	Het
Pate8	T	C	9: 36,492,597 (GRCm39)	S103G	probably benign	Het
Pfkl	C	T	10: 77,831,077 (GRCm39)		probably null	Het
Plrg1	T	C	3: 82,967,224 (GRCm39)	S132P	probably benign	Het
Pramel23	A	T	4: 143,425,134 (GRCm39)	I103N	probably damaging	Het
Prr14l	C	A	5: 32,988,538 (GRCm39)	C319F	possibly damaging	Het
Prtn3	T	A	10: 79,715,511 (GRCm39)	M1K	probably null	Het
Ptpn22	T	C	3: 103,809,487 (GRCm39)	F700S	probably damaging	Het
Ptprz1	C	T	6: 23,044,366 (GRCm39)	Q1273*	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,569,415 (GRCm39)	D4963G	probably damaging	Het
Sec16a	G	A	2: 26,309,734 (GRCm39)	L2091F	possibly damaging	Het
Senp6	C	T	9: 80,000,871 (GRCm39)	R27C	probably damaging	Het
Shcbp1	T	A	8: 4,814,906 (GRCm39)	M191L	probably benign	Het
Sirt4	T	C	5: 115,621,014 (GRCm39)	K53E	probably benign	Het
Slc10a2	A	G	8: 5,139,132 (GRCm39)	S271P	probably damaging	Het
Slc35b2	T	A	17: 45,877,751 (GRCm39)	F293I	probably damaging	Het
Slc38a10	C	T	11: 120,031,469 (GRCm39)	V103M	probably damaging	Het
Stab2	T	A	10: 86,723,759 (GRCm39)	I1479F	probably damaging	Het
Synpo2	A	G	3: 122,906,355 (GRCm39)	V987A	probably benign	Het
Syt9	A	G	7: 107,035,768 (GRCm39)	I262V	probably damaging	Het
Taf2	GCTTCTTCTTCTTCTTCTT	GCTTCTTCTTCTTCTT	15: 54,879,857 (GRCm39)		probably benign	Het
Tmem39a	A	T	16: 38,405,764 (GRCm39)	I200F	probably damaging	Het
Ttn	G	A	2: 76,579,613 (GRCm39)	T23760M	probably damaging	Het
Uqcrc1	C	T	9: 108,773,773 (GRCm39)	Q22*	probably null	Het
Wdtc1	A	G	4: 133,027,972 (GRCm39)	W377R	probably damaging	Het
Zfp454	A	G	11: 50,764,764 (GRCm39)	S223P	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- agcggaagggcttatTCAAATTTTCTAGATTA -3'
(R):5'- GCCTCTCACTGGCTCCTTGGAC -3'

Sequencing Primer
(F):5'- TTAAGAACTATTAACGTCCTTCTTCC -3'
(R):5'- TGATGGAATCATACATGCCCCTG -3'

Posted On

2013-09-30