Mutagenetix > Incidental Mutation

Incidental Mutation 'R5268:Pamr1'

399872

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

042860-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R5268 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102380357-102473386 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102417029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 114 (A114T)

Ref Sequence

ENSEMBL: ENSMUSP00000028612 (fasta)

Gene Model

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

AlphaFold

Q8BU25

Predicted Effect

probably damaging
Transcript: ENSMUST00000028612
AA Change: A114T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028612
Gene: ENSMUSG00000027188
AA Change: A114T

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: 98.5%
10x: 97.0%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	G	3: 59,659,444 (GRCm39)	E299G	probably damaging	Het
Adamtsl4	C	A	3: 95,587,473 (GRCm39)	R701L	probably damaging	Het
Adgrf5	T	C	17: 43,761,890 (GRCm39)	V1195A	probably damaging	Het
Agpat5	A	G	8: 18,931,878 (GRCm39)	T333A	possibly damaging	Het
Aspm	G	T	1: 139,392,033 (GRCm39)	G795C	probably damaging	Het
Car4	C	A	11: 84,856,626 (GRCm39)	Q305K	probably benign	Het
Catsperg1	T	C	7: 28,894,672 (GRCm39)	N612S	probably benign	Het
Cdc5l	G	A	17: 45,726,511 (GRCm39)	R354W	probably damaging	Het
Cdh9	G	A	15: 16,851,099 (GRCm39)	V623I	probably benign	Het
Cfap65	A	G	1: 74,964,061 (GRCm39)	V629A	probably benign	Het
Chd1	G	A	17: 15,956,005 (GRCm39)	V535I	probably damaging	Het
Col12a1	A	G	9: 79,585,329 (GRCm39)	V1316A	probably damaging	Het
Col6a3	A	T	1: 90,712,965 (GRCm39)	D1721E	unknown	Het
Cop1	T	A	1: 159,154,734 (GRCm39)	F647L	probably damaging	Het
Corin	A	C	5: 72,500,362 (GRCm39)	S421A	probably damaging	Het
Crb2	T	C	2: 37,680,833 (GRCm39)	V587A	probably damaging	Het
Ctc1	T	A	11: 68,920,636 (GRCm39)	V646E	possibly damaging	Het
Cyp2a12	A	T	7: 26,730,643 (GRCm39)	M203L	probably benign	Het
Dcdc2c	T	A	12: 28,566,656 (GRCm39)	K336M	possibly damaging	Het
Ddx39a	G	A	8: 84,448,950 (GRCm39)	R275H	probably benign	Het
Dennd2b	A	G	7: 109,156,519 (GRCm39)	L77P	probably benign	Het
Des	A	G	1: 75,339,572 (GRCm39)	N310S	possibly damaging	Het
Dlk1	C	A	12: 109,425,764 (GRCm39)	S212R	probably benign	Het
Dnajc5b	A	G	3: 19,633,224 (GRCm39)	E149G	probably benign	Het
Dpep1	A	T	8: 123,920,828 (GRCm39)	I3F	probably benign	Het
Eml6	T	A	11: 29,753,108 (GRCm39)	R934S	probably benign	Het
Ercc6l2	T	C	13: 64,016,925 (GRCm39)	L676P	possibly damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Frem2	T	A	3: 53,560,575 (GRCm39)	I1311F	probably damaging	Het
Gldc	T	A	19: 30,123,125 (GRCm39)	M257L	probably damaging	Het
Gm8674	T	G	13: 50,055,390 (GRCm39)		noncoding transcript	Het
Gnai3	C	T	3: 108,030,857 (GRCm39)		probably null	Het
Gtf3a	A	G	5: 146,891,965 (GRCm39)	D300G	probably damaging	Het
Haus3	A	T	5: 34,323,449 (GRCm39)	V387D	probably damaging	Het
Hpf1	T	A	8: 61,346,768 (GRCm39)	F28I	possibly damaging	Het
Iars1	A	G	13: 49,843,967 (GRCm39)	D147G	probably damaging	Het
Ibtk	A	T	9: 85,625,743 (GRCm39)	D2E	probably benign	Het
Ift140	T	A	17: 25,239,601 (GRCm39)	I86K	possibly damaging	Het
Igf2bp2	T	A	16: 21,898,241 (GRCm39)	I235F	probably damaging	Het
Ighv3-8	G	T	12: 114,286,252 (GRCm39)	A30E	probably benign	Het
Kcnq5	T	A	1: 21,575,949 (GRCm39)	T252S	probably damaging	Het
Lrrc4b	A	T	7: 44,110,787 (GRCm39)	N220Y	probably damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Mamdc4	T	C	2: 25,454,702 (GRCm39)	T1037A	possibly damaging	Het
Mbd5	A	T	2: 49,162,106 (GRCm39)	I863F	possibly damaging	Het
Muc4	T	A	16: 32,570,484 (GRCm39)	S515T	possibly damaging	Het
Mylk4	T	A	13: 32,892,864 (GRCm39)		probably null	Het
Neu4	G	A	1: 93,952,669 (GRCm39)	R346H	probably benign	Het
Nxpe5	T	A	5: 138,238,200 (GRCm39)	Y253*	probably null	Het
Olfml2b	A	T	1: 170,477,330 (GRCm39)	E155V	probably damaging	Het
Or14a258	A	G	7: 86,034,867 (GRCm39)	*334Q	probably null	Het
Or6a2	T	A	7: 106,600,111 (GRCm39)	N319Y	probably benign	Het
Or8a1b	T	A	9: 37,623,300 (GRCm39)	I92F	probably damaging	Het
Pdzd2	T	A	15: 12,592,263 (GRCm39)	N127I	probably damaging	Het
Pglyrp4	C	T	3: 90,634,271 (GRCm39)	L5F	probably damaging	Het
Plce1	T	A	19: 38,747,279 (GRCm39)	S1667T	possibly damaging	Het
Qser1	A	T	2: 104,617,776 (GRCm39)	V1012E	possibly damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rcn3	A	T	7: 44,736,203 (GRCm39)	D168E	probably damaging	Het
Rdh1	T	G	10: 127,595,832 (GRCm39)	V9G	possibly damaging	Het
Rin2	A	G	2: 145,686,680 (GRCm39)	T70A	probably benign	Het
Rnf207	T	C	4: 152,398,346 (GRCm39)	D276G	probably damaging	Het
Rtel1	C	T	2: 180,982,354 (GRCm39)	S368L	probably benign	Het
Slc15a5	C	A	6: 138,056,751 (GRCm39)	C55F	probably damaging	Het
Slc36a4	T	C	9: 15,638,212 (GRCm39)	F213L	possibly damaging	Het
Snhg16	G	T	11: 116,562,582 (GRCm39)	M18I	probably benign	Het
Spata25	C	T	2: 164,669,954 (GRCm39)	G19D	probably damaging	Het
Tas2r102	A	T	6: 132,739,360 (GRCm39)	L89F	probably damaging	Het
Tbc1d1	A	G	5: 64,481,910 (GRCm39)	K704E	probably damaging	Het
Tert	T	G	13: 73,775,473 (GRCm39)	S75A	probably damaging	Het
Tiparp	T	A	3: 65,454,986 (GRCm39)	L195Q	possibly damaging	Het
Tmem205	A	C	9: 21,837,380 (GRCm39)	Y57*	probably null	Het
Tomm22	A	G	15: 79,555,428 (GRCm39)	R5G	probably benign	Het
Trav10	A	T	14: 53,743,515 (GRCm39)	S39C	probably benign	Het
Trav6-2	T	A	14: 52,905,205 (GRCm39)	N75K	probably benign	Het
Trio	T	C	15: 27,748,372 (GRCm39)	S2427G	probably benign	Het
Ttc41	C	A	10: 86,580,342 (GRCm39)	H763N	possibly damaging	Het
Usp29	A	T	7: 6,964,583 (GRCm39)	N142I	probably damaging	Het
Vmn1r204	G	T	13: 22,740,912 (GRCm39)	W181L	probably damaging	Het
Vmn2r76	G	A	7: 85,875,267 (GRCm39)	T570M	probably damaging	Het
Wdr90	A	G	17: 26,069,819 (GRCm39)	L1173P	probably damaging	Het
Wnt9a	T	A	11: 59,219,396 (GRCm39)	C141S	probably damaging	Het
Zfp462	A	T	4: 55,012,299 (GRCm39)	I1422L	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
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
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'- ATGAGCAGGTTCACCTAAGATC -3'
(R):5'- AGTCCTATCTCTAGCCACGTG -3'

Sequencing Primer
(F):5'- TTCCAGGTCTACATACCAGGG -3'
(R):5'- CGTGCATTCCAAAACTGAGATTC -3'

Posted On

2016-07-06