Mutagenetix > Incidental Mutation

Incidental Mutation 'R6831:Pamr1'

537835

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

044941-MU

Accession Numbers

Essential gene?

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

Stock #

R6831 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102380357-102473386 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 102445276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 270 (R270C)

Ref Sequence

ENSEMBL: ENSMUSP00000028612 (fasta)

Gene Model

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

AlphaFold

Q8BU25

Predicted Effect

probably damaging
Transcript: ENSMUST00000028612
AA Change: R270C

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028612
Gene: ENSMUSG00000027188
AA Change: R270C

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: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	G	10: 29,100,675 (GRCm39)	D349E	probably benign	Het
Adam28	C	T	14: 68,855,576 (GRCm39)	A630T	probably benign	Het
Akr1cl	C	T	1: 65,053,831 (GRCm39)		probably null	Het
Alcam	A	G	16: 52,130,264 (GRCm39)	Y29H	probably benign	Het
Alg3	A	T	16: 20,427,497 (GRCm39)	S25T	probably damaging	Het
Amdhd1	T	G	10: 93,363,118 (GRCm39)	L323F	probably damaging	Het
Apcdd1	C	A	18: 63,083,197 (GRCm39)	Y342*	probably null	Het
Aqp9	T	A	9: 71,069,702 (GRCm39)		probably benign	Het
Arhgef5	A	G	6: 43,257,933 (GRCm39)	T1326A	probably damaging	Het
Cacna1a	T	C	8: 85,297,860 (GRCm39)	V1238A	probably damaging	Het
Cep128	T	C	12: 91,233,748 (GRCm39)	D440G	probably damaging	Het
Dnah5	G	C	15: 28,411,661 (GRCm39)	G3677R	possibly damaging	Het
Dst	T	A	1: 34,229,765 (GRCm39)	C2631S	probably benign	Het
E330034G19Rik	T	C	14: 24,346,163 (GRCm39)	S25P	probably benign	Het
Fat3	C	T	9: 15,826,357 (GRCm39)	E4532K	possibly damaging	Het
Fat3	C	A	9: 16,287,847 (GRCm39)	V559L	probably damaging	Het
Fra10ac1	A	T	19: 38,195,737 (GRCm39)	I162K	probably benign	Het
Glrx3	C	T	7: 137,060,951 (GRCm39)	T195M	possibly damaging	Het
Gm9949	T	A	18: 62,313,616 (GRCm39)		probably benign	Het
Hbs1l	T	C	10: 21,217,767 (GRCm39)	S228P	probably benign	Het
Hmcn1	G	A	1: 150,646,044 (GRCm39)	T718I	probably benign	Het
Igf1r	T	C	7: 67,857,067 (GRCm39)	S1010P	possibly damaging	Het
Inpp5d	T	A	1: 87,629,198 (GRCm39)	Y394*	probably null	Het
Itpr2	G	A	6: 146,013,927 (GRCm39)	T2623M	probably damaging	Het
Kif21b	T	A	1: 136,072,496 (GRCm39)	C67*	probably null	Het
Lama1	T	A	17: 68,063,749 (GRCm39)	C758S	possibly damaging	Het
Mdga1	T	A	17: 30,106,490 (GRCm39)	K274*	probably null	Het
Neu2	G	A	1: 87,524,455 (GRCm39)	G147R	probably damaging	Het
Nkx1-1	A	T	5: 33,591,147 (GRCm39)	S58R	unknown	Het
Or2ag16	A	T	7: 106,351,778 (GRCm39)	N272K	probably damaging	Het
Or52e4	A	G	7: 104,706,086 (GRCm39)	D211G	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pacs1	T	A	19: 5,210,823 (GRCm39)	I151F	probably damaging	Het
Pclo	C	T	5: 14,838,443 (GRCm39)	Q1417*	probably null	Het
Pkm	G	C	9: 59,582,398 (GRCm39)	M409I	probably benign	Het
Plbd2	T	A	5: 120,631,131 (GRCm39)	K215N	probably benign	Het
Polk	T	C	13: 96,631,999 (GRCm39)	K245E	possibly damaging	Het
Pramel17	T	A	4: 101,694,094 (GRCm39)	Q263L	probably benign	Het
Prl	T	G	13: 27,243,530 (GRCm39)	I65S	probably benign	Het
Proser3	T	C	7: 30,239,781 (GRCm39)	H441R	probably benign	Het
Psmb3	A	G	11: 97,597,728 (GRCm39)	K98R	probably benign	Het
Ptpn20	T	C	14: 33,354,882 (GRCm39)	V319A	probably damaging	Het
Ptprj	A	T	2: 90,290,991 (GRCm39)	Y397N	probably damaging	Het
Rp1	T	C	1: 4,420,087 (GRCm39)		probably null	Het
Sgsm1	T	A	5: 113,428,246 (GRCm39)	Y314F	probably damaging	Het
Sh3pxd2a	G	A	19: 47,271,532 (GRCm39)	R244C	probably damaging	Het
Sspo	G	A	6: 48,461,767 (GRCm39)	V3466M	possibly damaging	Het
Syne2	T	A	12: 76,013,568 (GRCm39)	F2921I	probably benign	Het
Trank1	T	A	9: 111,206,967 (GRCm39)	M1700K	probably benign	Het
Trmt112	T	A	19: 6,887,563 (GRCm39)	L4H	probably damaging	Het
Trmu	A	G	15: 85,779,207 (GRCm39)	T285A	probably benign	Het
Ttn	A	G	2: 76,601,846 (GRCm39)		probably null	Het
Vmn2r-ps158	G	C	7: 42,673,004 (GRCm39)	A143P	probably damaging	Het
Zc3hav1	A	T	6: 38,309,103 (GRCm39)	M573K	probably benign	Het
Zcchc8	T	C	5: 123,838,972 (GRCm39)	E522G	probably damaging	Het
Zfp354a	T	C	11: 50,961,381 (GRCm39)	S529P	probably damaging	Het
Zfp735	G	A	11: 73,601,434 (GRCm39)	G126D	probably 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
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'- TGGTTCAGATTCCAGGCTTG -3'
(R):5'- GCTGAGCCAAGACATGACAC -3'

Sequencing Primer
(F):5'- CAGATTCCAGGCTTGGGGAG -3'
(R):5'- CAAGAAGATGGCCTTGCTGTC -3'

Posted On

2018-10-18