Mutagenetix > Incidental Mutation

Incidental Mutation 'R8677:Adrm1'

661428

Institutional Source

Beutler Lab

Gene Symbol

Adrm1

Ensembl Gene

ENSMUSG00000039041

Gene Name

adhesion regulating molecule 1 26S proteasome ubiquitin receptor

Synonyms

Rpn13, 1110063P18Rik, 2510006J17Rik, ARM-1, Gp110

MMRRC Submission

068532-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.655) question?

Stock #

R8677 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

179813381-179818076 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 179813832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 2 (T2M)

Ref Sequence

ENSEMBL: ENSMUSP00000050076 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015791] [ENSMUST00000061437]

AlphaFold

Q9JKV1

PDB Structure

Crystal structure of the proteasomal Rpn13 PRU-domain [X-RAY DIFFRACTION]
Complex Structures of Mouse Rpn13 (22-130aa) and ubiquitin [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000015791

SMART Domains

Protein: ENSMUSP00000015791
Gene: ENSMUSG00000015647

Domain	Start	End	E-Value	Type
signal peptide	1	40	N/A	INTRINSIC
LamNT	44	303	1.06e-132	SMART
EGF_Lam	305	361	4.35e-6	SMART
EGF_Lam	364	431	5.78e-11	SMART
EGF_Lam	434	476	1.32e-5	SMART
EGF_Lam	500	544	8.63e-10	SMART
EGF_Lam	547	590	1.16e-10	SMART
EGF_Lam	593	635	4.63e-10	SMART
EGF_Lam	638	680	6.25e-7	SMART
EGF_Lam	683	726	3.1e-11	SMART
EGF_Lam	730	779	2.99e-4	SMART
EGF_Lam	782	831	4.66e-6	SMART
EGF_Lam	834	878	3.48e-5	SMART
low complexity region	1261	1273	N/A	INTRINSIC
EGF_Lam	1443	1486	7.01e-10	SMART
EGF_like	1489	1530	3.64e-1	SMART
EGF_Lam	1533	1579	8.56e-14	SMART
EGF_Lam	1582	1630	1.86e-14	SMART
LamB	1689	1819	5.86e-61	SMART
EGF_like	1818	1862	2.74e0	SMART
EGF_Lam	1865	1912	3.32e-11	SMART
EGF_Lam	1915	1968	1.61e-9	SMART
EGF_Lam	1971	2022	6.39e-13	SMART
EGF_Lam	2025	2069	1.94e-12	SMART
EGF_Lam	2072	2116	1.35e-11	SMART
EGF_like	2103	2145	3.1e1	SMART
EGF_Lam	2119	2166	1.18e-2	SMART
Pfam:Laminin_I	2189	2453	1.7e-65	PFAM
low complexity region	2532	2548	N/A	INTRINSIC
low complexity region	2557	2569	N/A	INTRINSIC
low complexity region	2632	2641	N/A	INTRINSIC
low complexity region	2663	2676	N/A	INTRINSIC
LamG	2760	2912	3.97e-8	SMART
LamG	2966	3103	1.78e-10	SMART
LamG	3149	3274	1.11e-20	SMART
LamG	3359	3497	4.05e-23	SMART
LamG	3539	3670	3e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000061437
AA Change: T2M

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000050076
Gene: ENSMUSG00000039041
AA Change: T2M

Domain	Start	End	E-Value	Type
Pfam:Proteasom_Rpn13	29	111	3.5e-35	PFAM
low complexity region	135	161	N/A	INTRINSIC
low complexity region	173	254	N/A	INTRINSIC
Pfam:RPN13_C	268	381	7.3e-38	PFAM
low complexity region	390	403	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the adhesion regulating molecule 1 protein family. The encoded protein is a component of the proteasome where it acts as a ubiquitin receptor and recruits the deubiquitinating enzyme, ubiquitin carboxyl-terminal hydrolase L5. Increased levels of the encoded protein are associated with increased cell adhesion, which is likely an indirect effect of this intracellular protein. Dysregulation of this gene has been implicated in carcinogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit decreased birth weight, reduced competition for food, postnatal lethality, infertility, impaired sperm and oocyte development, increased peripheral CD4+ and CD8+ T cells, and increased serum GH and FSH levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acd	A	C	8: 106,427,576 (GRCm39)	S25R	probably damaging	Het
Acly	A	T	11: 100,410,569 (GRCm39)	H136Q	probably damaging	Het
Ankrd12	A	T	17: 66,331,209 (GRCm39)	L246M	probably damaging	Het
Bltp2	C	T	11: 78,174,982 (GRCm39)	R1706C	probably damaging	Het
Cacnb3	T	C	15: 98,539,931 (GRCm39)	L258P	probably damaging	Het
Cd36	C	T	5: 18,025,493 (GRCm39)	V76M	probably damaging	Het
Cep120	A	G	18: 53,871,633 (GRCm39)	F80L	possibly damaging	Het
Clcn1	A	T	6: 42,267,519 (GRCm39)		probably null	Het
Col17a1	T	C	19: 47,640,240 (GRCm39)	T1042A	probably benign	Het
Comp	A	T	8: 70,832,910 (GRCm39)	N623Y	probably damaging	Het
Ctnnal1	A	G	4: 56,813,272 (GRCm39)	L653P	probably benign	Het
Cx3cl1	G	T	8: 95,506,443 (GRCm39)	R149S	probably benign	Het
Dbndd2	T	A	2: 164,330,522 (GRCm39)	N58K	probably damaging	Het
Dclk1	A	G	3: 55,409,840 (GRCm39)	I595V	probably damaging	Het
Dhx15	T	C	5: 52,341,886 (GRCm39)	D144G	probably benign	Het
Dlat	T	C	9: 50,570,007 (GRCm39)	E120G	probably damaging	Het
Fam171a1	T	A	2: 3,221,352 (GRCm39)	Y273N	probably damaging	Het
Fndc3b	A	T	3: 27,511,176 (GRCm39)	V778D	probably benign	Het
Grn	T	C	11: 102,324,393 (GRCm39)	S129P	possibly damaging	Het
Grxcr1	T	C	5: 68,267,757 (GRCm39)	F169L	possibly damaging	Het
Hcn2	A	G	10: 79,560,619 (GRCm39)	I317V	probably benign	Het
Heca	T	C	10: 17,791,424 (GRCm39)	N211D	probably benign	Het
Htr1f	T	C	16: 64,746,414 (GRCm39)	T293A	possibly damaging	Het
Ifitm10	T	A	7: 141,909,749 (GRCm39)	I116F	probably benign	Het
Itprid1	A	G	6: 55,849,579 (GRCm39)	H37R	probably benign	Het
Ivl	A	T	3: 92,479,986 (GRCm39)	D26E	probably benign	Het
Kcnma1	T	A	14: 23,436,418 (GRCm39)	E761V	probably benign	Het
Ltbp1	G	T	17: 75,655,753 (GRCm39)	V923F	probably benign	Het
Mfsd4b2	A	T	10: 39,799,805 (GRCm39)	F32L	probably benign	Het
Micu2	T	C	14: 58,161,420 (GRCm39)	R301G	possibly damaging	Het
Miip	C	T	4: 147,947,503 (GRCm39)	C219Y	probably damaging	Het
Mn1	T	A	5: 111,566,885 (GRCm39)	L285*	probably null	Het
Mthfd1l	T	A	10: 3,998,250 (GRCm39)	N664K	possibly damaging	Het
Mttp	A	T	3: 137,810,437 (GRCm39)	H659Q	probably benign	Het
Myadml2	G	A	11: 120,538,815 (GRCm39)	P7S	probably benign	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Nlrp4c	C	T	7: 6,075,644 (GRCm39)	T645I	probably damaging	Het
Notch1	C	T	2: 26,359,936 (GRCm39)	V1260I	probably damaging	Het
Numa1	T	C	7: 101,650,148 (GRCm39)	L1293P	probably damaging	Het
Or1a1	A	T	11: 74,086,415 (GRCm39)	I29F	probably benign	Het
Or56a4	A	G	7: 104,806,775 (GRCm39)	L38P	probably benign	Het
Pcdh12	G	T	18: 38,415,191 (GRCm39)	H645N	probably benign	Het
Pdcd1	A	T	1: 93,968,952 (GRCm39)	L122H	probably damaging	Het
Pknox2	G	A	9: 36,821,887 (GRCm39)	P246L	probably damaging	Het
Polr2a	A	T	11: 69,626,381 (GRCm39)	S1590T	possibly damaging	Het
Ppp1r16b	G	A	2: 158,593,098 (GRCm39)	D226N	probably damaging	Het
Proser1	A	G	3: 53,385,122 (GRCm39)	T335A	probably benign	Het
Ptprc	A	G	1: 138,011,335 (GRCm39)	I598T	probably damaging	Het
Rasal3	T	C	17: 32,615,828 (GRCm39)	T337A	probably benign	Het
Rasgrp3	A	T	17: 75,819,055 (GRCm39)	T415S	probably benign	Het
Rbm7	T	A	9: 48,401,273 (GRCm39)	R152*	probably null	Het
Sanbr	T	C	11: 23,545,471 (GRCm39)	D474G	probably benign	Het
Sf3b2	C	T	19: 5,336,257 (GRCm39)	R513H	probably damaging	Het
Slc22a30	A	G	19: 8,364,035 (GRCm39)	S214P	probably benign	Het
Spam1	A	G	6: 24,796,984 (GRCm39)	T312A	probably benign	Het
Ssh2	A	G	11: 77,346,019 (GRCm39)	T1335A	possibly damaging	Het
Tef	T	A	15: 81,699,169 (GRCm39)	L59Q	probably damaging	Het
Tmem131l	A	C	3: 83,836,009 (GRCm39)	V700G	probably damaging	Het
Twsg1	A	G	17: 66,233,402 (GRCm39)	S183P	probably damaging	Het
Unc13c	T	C	9: 73,840,243 (GRCm39)	T203A	probably benign	Het
Uqcc6	G	T	10: 82,456,050 (GRCm39)	T37K	possibly damaging	Het
Vmn2r75	G	T	7: 85,814,410 (GRCm39)	P361Q	possibly damaging	Het
Xirp2	A	T	2: 67,346,978 (GRCm39)	N3073I	probably damaging	Het
Zfp114	A	G	7: 23,880,070 (GRCm39)	N140D	probably benign	Het

Other mutations in Adrm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Adrm1	APN	2	179,817,756 (GRCm39)	splice site	probably benign
IGL02938:Adrm1	APN	2	179,817,395 (GRCm39)	missense	probably damaging	0.98
R0718:Adrm1	UTSW	2	179,816,940 (GRCm39)	splice site	probably benign
R1129:Adrm1	UTSW	2	179,814,712 (GRCm39)	unclassified	probably benign
R2389:Adrm1	UTSW	2	179,816,116 (GRCm39)	unclassified	probably benign
R2875:Adrm1	UTSW	2	179,817,411 (GRCm39)	missense	probably damaging	0.96
R2876:Adrm1	UTSW	2	179,817,411 (GRCm39)	missense	probably damaging	0.96
R3085:Adrm1	UTSW	2	179,816,094 (GRCm39)	splice site	probably null
R4086:Adrm1	UTSW	2	179,814,627 (GRCm39)	intron	probably benign
R4608:Adrm1	UTSW	2	179,816,648 (GRCm39)	splice site	probably benign
R5416:Adrm1	UTSW	2	179,817,930 (GRCm39)	missense	probably benign	0.06
R5536:Adrm1	UTSW	2	179,813,981 (GRCm39)	unclassified	probably benign
R5575:Adrm1	UTSW	2	179,817,509 (GRCm39)	missense	probably benign	0.00
R8026:Adrm1	UTSW	2	179,817,002 (GRCm39)	missense	unknown
R8929:Adrm1	UTSW	2	179,814,730 (GRCm39)	missense	unknown
Z1177:Adrm1	UTSW	2	179,817,165 (GRCm39)	missense	possibly damaging	0.59
Z1177:Adrm1	UTSW	2	179,816,708 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTATGACACAGCAACAATAGGGGC -3'
(R):5'- GAATAAGGGAGTCGTCCGTC -3'

Sequencing Primer
(F):5'- CGGCTGACGGAACTCAATC -3'
(R):5'- TCTGCTGGATGTACACGAGAC -3'

Posted On

2021-03-08