Mutagenetix > Incidental Mutation

Incidental Mutation 'R8977:Pamr1'

683478

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

068715-MU

Accession Numbers

Essential gene?

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

Stock #

R8977 (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 102441963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 184 (V184D)

Ref Sequence

ENSEMBL: ENSMUSP00000028612 (fasta)

Gene Model

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

AlphaFold

Q8BU25

Predicted Effect

probably damaging
Transcript: ENSMUST00000028612
AA Change: V184D

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028612
Gene: ENSMUSG00000027188
AA Change: V184D

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	A	G	11: 58,184,710 (GRCm39)	E476G	unknown	Het
Aars1	G	A	8: 111,766,849 (GRCm39)	R77Q	probably damaging	Het
Abcc10	C	A	17: 46,624,593 (GRCm39)	V795L	probably benign	Het
Adam30	A	G	3: 98,069,378 (GRCm39)	K276E	probably damaging	Het
Adam6b	A	T	12: 113,453,996 (GRCm39)	N271I	probably benign	Het
Adgrl2	T	C	3: 148,660,223 (GRCm39)	I17V	probably null	Het
Anapc1	C	A	2: 128,483,322 (GRCm39)	G1258C	probably damaging	Het
Ank2	G	T	3: 126,738,575 (GRCm39)	H2436Q	unknown	Het
Ankrd13a	A	T	5: 114,933,806 (GRCm39)	K267*	probably null	Het
Apob	T	C	12: 8,065,990 (GRCm39)	Y4320H	probably damaging	Het
Atp2b2	T	C	6: 113,750,325 (GRCm39)	D678G	probably damaging	Het
Bhlhe41	C	A	6: 145,809,096 (GRCm39)	V239F	possibly damaging	Het
Cbfa2t2	T	G	2: 154,342,410 (GRCm39)	L42R	probably benign	Het
Ccer2	G	A	7: 28,456,113 (GRCm39)	V52M	probably damaging	Het
Ccnj	T	C	19: 40,833,383 (GRCm39)	F187S	probably damaging	Het
Cd109	G	A	9: 78,614,810 (GRCm39)	V1286I	probably benign	Het
Cfap210	T	C	2: 69,617,643 (GRCm39)	H46R	possibly damaging	Het
Cfap46	G	T	7: 139,259,849 (GRCm39)	T148N	probably benign	Het
Chmp7	A	G	14: 69,958,684 (GRCm39)	V210A	probably benign	Het
Cuzd1	A	G	7: 130,923,754 (GRCm39)	F8S	probably benign	Het
Dnmbp	A	T	19: 43,840,751 (GRCm39)	D549E	probably damaging	Het
Dpp4	A	G	2: 62,204,747 (GRCm39)	L240P	probably benign	Het
Dst	A	T	1: 34,286,864 (GRCm39)	R3398S	probably damaging	Het
Eml6	A	G	11: 29,734,182 (GRCm39)	I1186T	possibly damaging	Het
Extl1	T	C	4: 134,086,435 (GRCm39)	E540G	possibly damaging	Het
Gdpd5	A	G	7: 99,103,057 (GRCm39)	I339V	probably benign	Het
Ggcx	T	C	6: 72,406,265 (GRCm39)		probably null	Het
Gm9195	A	G	14: 72,691,338 (GRCm39)	F1637L	unknown	Het
Igkv5-48	G	C	6: 69,703,616 (GRCm39)	N96K	possibly damaging	Het
Itga11	T	C	9: 62,662,922 (GRCm39)	I546T	probably damaging	Het
Map3k5	T	A	10: 19,955,000 (GRCm39)	F624L	possibly damaging	Het
Map7	T	A	10: 20,145,336 (GRCm39)		probably null	Het
Mdga2	A	T	12: 66,844,409 (GRCm39)	D196E	possibly damaging	Het
Mettl2	T	C	11: 105,019,791 (GRCm39)	C143R	probably benign	Het
Mmut	G	T	17: 41,249,481 (GRCm39)	R152L	probably benign	Het
Ncam1	G	T	9: 49,418,825 (GRCm39)	T825K	probably damaging	Het
Nucb2	C	A	7: 116,128,063 (GRCm39)	N257K	probably benign	Het
Or1e19	A	G	11: 73,316,651 (GRCm39)	S53P	probably benign	Het
Or1p1c	A	T	11: 74,160,304 (GRCm39)	I30F	probably benign	Het
Or2b7	T	A	13: 21,740,016 (GRCm39)	M59L	possibly damaging	Het
Or51i1	A	T	7: 103,670,762 (GRCm39)	Y254*	probably null	Het
Or52n1	A	T	7: 104,383,248 (GRCm39)	F108I	probably damaging	Het
Or8k38	C	T	2: 86,488,472 (GRCm39)	C110Y	probably benign	Het
Paqr9	A	T	9: 95,442,888 (GRCm39)	I293F	possibly damaging	Het
Pi15	G	T	1: 17,690,126 (GRCm39)		probably null	Het
Pkm	T	A	9: 59,578,923 (GRCm39)	I301N	probably damaging	Het
Pramel1	T	A	4: 143,123,961 (GRCm39)	I212N	probably benign	Het
Prdm6	A	T	18: 53,701,373 (GRCm39)	I549F	probably damaging	Het
Prpf8	A	G	11: 75,386,870 (GRCm39)	E1105G	probably benign	Het
Rad51b	T	A	12: 79,704,662 (GRCm39)	V274E	probably damaging	Het
Rd3l	T	A	12: 111,946,593 (GRCm39)	Y61F	probably damaging	Het
Resf1	T	A	6: 149,229,906 (GRCm39)	I984N	probably damaging	Het
Rgs11	T	C	17: 26,427,233 (GRCm39)	V388A	probably damaging	Het
Rictor	A	G	15: 6,812,566 (GRCm39)	I901V	probably benign	Het
Riox2	A	G	16: 59,312,195 (GRCm39)	D444G	probably benign	Het
Scn2a	T	A	2: 65,594,014 (GRCm39)	V1621E	probably damaging	Het
Sec11c	A	G	18: 65,945,818 (GRCm39)	I94V	possibly damaging	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Slc34a1	T	C	13: 55,556,815 (GRCm39)	I337T	probably benign	Het
Slc6a19	T	C	13: 73,830,269 (GRCm39)	K516E	probably benign	Het
Slco1b2	A	T	6: 141,628,980 (GRCm39)	M596L	probably benign	Het
Smarce1	A	G	11: 99,110,511 (GRCm39)	I100T	possibly damaging	Het
Stk32c	A	T	7: 138,705,161 (GRCm39)	M119K	possibly damaging	Het
Tekt2	T	C	4: 126,217,266 (GRCm39)		probably null	Het
Tenm4	A	T	7: 96,461,177 (GRCm39)	N908Y	probably damaging	Het
Tex38	A	G	4: 115,637,792 (GRCm39)	S4P	probably benign	Het
Top2b	T	A	14: 16,393,239 (GRCm38)	H299Q	probably benign	Het
Trim55	C	A	3: 19,713,341 (GRCm39)	R131S	probably benign	Het
Vmn2r109	A	T	17: 20,774,531 (GRCm39)	Y275N	possibly damaging	Het
Vmn2r116	C	T	17: 23,605,916 (GRCm39)	T276I	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
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'- GTTTATTTGGCCCCTGTGACAC -3'
(R):5'- GGAGACATAGAAAAGCGCTTTTATG -3'

Sequencing Primer
(F):5'- GCCCCTGTGACACGCTTC -3'
(R):5'- ATCCATGACTAAATTTGTCTCTGTGC -3'

Posted On

2021-10-11