Mutagenetix > Incidental Mutation

Incidental Mutation 'R7322:Adam33'

568198

Institutional Source

Beutler Lab

Gene Symbol

Adam33

Ensembl Gene

ENSMUSG00000027318

Gene Name

a disintegrin and metallopeptidase domain 33

Synonyms

MMRRC Submission

045417-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7322 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130892739-130905734 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 130895614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 567 (C567Y)

Ref Sequence

ENSEMBL: ENSMUSP00000105861 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052104] [ENSMUST00000110232] [ENSMUST00000183552]

AlphaFold

Q923W9

Predicted Effect

probably damaging
Transcript: ENSMUST00000052104
AA Change: C567Y

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

SMART Domains

Protein: ENSMUSP00000052486
Gene: ENSMUSG00000027318
AA Change: C567Y

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Pep_M12B_propep	38	168	1.9e-28	PFAM
Pfam:Reprolysin_5	209	390	6.9e-21	PFAM
Pfam:Reprolysin_4	209	401	3.5e-9	PFAM
Pfam:Reprolysin	211	410	1.9e-60	PFAM
Pfam:Reprolysin_2	232	400	3e-14	PFAM
Pfam:Reprolysin_3	235	357	1.2e-16	PFAM
DISIN	427	502	8.4e-42	SMART
ACR	503	647	6.8e-51	SMART
transmembrane domain	677	699	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110232
AA Change: C567Y

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

SMART Domains

Protein: ENSMUSP00000105861
Gene: ENSMUSG00000027318
AA Change: C567Y

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Pfam:Pep_M12B_propep	36	168	1.3e-24	PFAM
Pfam:Reprolysin_5	209	390	8.5e-23	PFAM
Pfam:Reprolysin_4	209	401	4.2e-11	PFAM
Pfam:Reprolysin	211	410	4e-63	PFAM
Pfam:Reprolysin_2	231	400	7.3e-17	PFAM
Pfam:Reprolysin_3	235	357	2.2e-20	PFAM
DISIN	427	502	1.66e-39	SMART
ACR	503	646	7.59e-54	SMART
EGF	653	682	1.53e-1	SMART
transmembrane domain	703	725	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000122608
Gene: ENSMUSG00000027318
AA Change: C425Y

Domain	Start	End	E-Value	Type
Pfam:Reprolysin_5	68	249	1.8e-23	PFAM
Pfam:Reprolysin_4	68	260	8.6e-12	PFAM
Pfam:Reprolysin	70	269	8.3e-64	PFAM
Pfam:Reprolysin_2	90	259	1.5e-17	PFAM
Pfam:Reprolysin_3	94	216	5.1e-21	PFAM
DISIN	286	361	1.66e-39	SMART
ACR	362	505	8.02e-44	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000147333

SMART Domains

Protein: ENSMUSP00000117097
Gene: ENSMUSG00000027318

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
low complexity region	74	92	N/A	INTRINSIC
low complexity region	138	150	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000183552
AA Change: C567Y

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

SMART Domains

Protein: ENSMUSP00000139344
Gene: ENSMUSG00000027318
AA Change: C567Y

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Pfam:Pep_M12B_propep	38	168	2.4e-30	PFAM
Pfam:Reprolysin_5	209	390	8.2e-23	PFAM
Pfam:Reprolysin_4	209	401	4.2e-11	PFAM
Pfam:Reprolysin	211	410	2.4e-62	PFAM
Pfam:Reprolysin_2	232	400	2.8e-16	PFAM
Pfam:Reprolysin_3	235	357	1.5e-18	PFAM
DISIN	427	502	1.66e-39	SMART
ACR	503	646	7.59e-54	SMART
EGF	653	682	1.53e-1	SMART
transmembrane domain	703	725	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184921

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. This gene is widely expressed, most highly in the adult brain, heart, kidney, lung and testis. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional metalloprotease enzyme. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for a targeted gene deletion are viable, fertile, developmentally normal and display normal allergen-induced airway hyperreactivity, IgE production, mucus metaplasia, and airway inflammation in an OVA-induced model of allergic asthma. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted, knock-out(2) Targeted, other(4)

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,067,151 (GRCm39)	V1352D	probably damaging	Het
Alppl2	C	A	1: 87,015,184 (GRCm39)	G422C	probably benign	Het
Ang	T	A	14: 51,338,868 (GRCm39)	I3K	unknown	Het
Ankrd10	A	T	8: 11,665,841 (GRCm39)	V253E	probably damaging	Het
Arhgef17	T	C	7: 100,527,004 (GRCm39)	I806V	probably benign	Het
Atp10b	T	C	11: 43,103,374 (GRCm39)	L586P	probably damaging	Het
Bdkrb1	T	C	12: 105,570,563 (GRCm39)	V43A	possibly damaging	Het
Brinp3	C	T	1: 146,558,426 (GRCm39)	R117*	probably null	Het
Brwd1	A	T	16: 95,867,319 (GRCm39)	M172K	probably damaging	Het
Bsn	G	A	9: 108,003,620 (GRCm39)	R262*	probably null	Het
Bst2	A	C	8: 71,989,851 (GRCm39)	L74R	probably damaging	Het
C1qa	T	C	4: 136,623,465 (GRCm39)	*246W	probably null	Het
Cadm2	G	A	16: 66,679,734 (GRCm39)	T42M	probably damaging	Het
Ccdc150	A	G	1: 54,299,125 (GRCm39)	T34A	probably benign	Het
Ccdc178	G	A	18: 22,238,606 (GRCm39)	T337M	probably benign	Het
Ccl8	T	C	11: 82,007,408 (GRCm39)	V81A	probably damaging	Het
Dgcr6	A	G	16: 17,888,771 (GRCm39)	T69A	unknown	Het
Dnah10	A	G	5: 124,898,333 (GRCm39)	D3762G	probably benign	Het
Eif3d	T	C	15: 77,845,876 (GRCm39)	T382A	probably benign	Het
Epb41	A	T	4: 131,717,030 (GRCm39)	Y375N	probably damaging	Het
Epb41l1	A	T	2: 156,345,771 (GRCm39)	H258L	probably damaging	Het
Fbn1	A	C	2: 125,321,115 (GRCm39)	I81S	possibly damaging	Het
Fzd5	A	G	1: 64,774,487 (GRCm39)	S425P	probably damaging	Het
Gfra2	T	A	14: 71,205,831 (GRCm39)	V398D	probably benign	Het
Gm3755	A	G	14: 18,620,904 (GRCm39)	L130P		Het
Grin3b	A	G	10: 79,811,529 (GRCm39)	Y705C	probably damaging	Het
Hmcn2	A	G	2: 31,349,093 (GRCm39)	D4944G	probably damaging	Het
Hoxd11	T	C	2: 74,514,355 (GRCm39)	L295P	probably damaging	Het
Ighv1-81	C	A	12: 115,884,287 (GRCm39)	G16C	possibly damaging	Het
Kcna5	T	C	6: 126,510,754 (GRCm39)	D458G	possibly damaging	Het
Klb	A	T	5: 65,540,707 (GRCm39)	E933D	probably benign	Het
Lrp1	A	T	10: 127,381,433 (GRCm39)	M3855K	probably benign	Het
Map3k4	A	T	17: 12,489,833 (GRCm39)	L533I	probably damaging	Het
Mrps6	C	A	16: 91,855,335 (GRCm39)	Y4*	probably null	Het
Nabp1	A	T	1: 51,512,229 (GRCm39)	V105E	probably damaging	Het
Naip6	T	A	13: 100,435,896 (GRCm39)	N876Y	possibly damaging	Het
Nlrp2	T	C	7: 5,311,644 (GRCm39)	S944G	possibly damaging	Het
Nr4a3	A	T	4: 48,083,238 (GRCm39)	E590D	probably benign	Het
Or10h5	A	G	17: 33,434,673 (GRCm39)	I215T	probably damaging	Het
Or1b1	T	C	2: 36,995,603 (GRCm39)	R20G	probably null	Het
Or52ab2	T	A	7: 102,970,494 (GRCm39)	V292E		Het
Or5j1	A	T	2: 86,878,823 (GRCm39)	Y252*	probably null	Het
Or8k22	C	T	2: 86,162,908 (GRCm39)	S264N	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Pdzd2	T	C	15: 12,437,248 (GRCm39)	D451G	probably damaging	Het
Pkd2l1	A	G	19: 44,146,129 (GRCm39)	S142P	probably benign	Het
Postn	T	C	3: 54,277,701 (GRCm39)	L232P	probably damaging	Het
Prss8	T	C	7: 127,528,735 (GRCm39)	T33A	probably benign	Het
Ptgr3	A	G	18: 84,113,260 (GRCm39)	Y312C	probably damaging	Het
Rapgef2	A	T	3: 79,053,130 (GRCm39)	M1K	probably null	Het
Rasa3	T	C	8: 13,645,857 (GRCm39)	N161S	possibly damaging	Het
Riox1	G	A	12: 83,997,442 (GRCm39)		probably benign	Het
Rmdn2	A	T	17: 79,929,040 (GRCm39)	K97N	probably damaging	Het
Sgo1	A	G	17: 53,984,085 (GRCm39)	L431P	probably damaging	Het
Slc9a8	T	A	2: 167,293,222 (GRCm39)	V217E	probably damaging	Het
Slco2b1	C	T	7: 99,341,055 (GRCm39)	G21D	not run	Het
Spata31d1d	C	A	13: 59,874,790 (GRCm39)	R915L	probably benign	Het
Stk17b	A	T	1: 53,805,104 (GRCm39)	N152K	probably benign	Het
Syne2	T	A	12: 76,030,798 (GRCm39)	I3634N	probably damaging	Het
Tnfrsf9	A	G	4: 151,018,794 (GRCm39)	D155G	probably damaging	Het
Tnrc6a	T	A	7: 122,770,731 (GRCm39)	D840E	probably benign	Het
Tyk2	G	A	9: 21,021,500 (GRCm39)	S902L	probably benign	Het
Unc119	T	C	11: 78,239,449 (GRCm39)	S235P	probably damaging	Het
Vav1	A	C	17: 57,609,266 (GRCm39)	D394A	probably benign	Het
Vezf1	T	A	11: 87,972,410 (GRCm39)	I439K	possibly damaging	Het
Zfp335	A	T	2: 164,752,741 (GRCm39)	M1K	probably null	Het
Zfp715	T	C	7: 42,960,562 (GRCm39)	T10A	possibly damaging	Het
Zmynd11	C	T	13: 9,740,445 (GRCm39)	E382K	possibly damaging	Het

Other mutations in Adam33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Adam33	APN	2	130,896,183 (GRCm39)	splice site	probably benign
IGL01586:Adam33	APN	2	130,895,970 (GRCm39)	missense	probably damaging	1.00
IGL02156:Adam33	APN	2	130,895,078 (GRCm39)	splice site	probably benign
IGL02498:Adam33	APN	2	130,895,157 (GRCm39)	missense	probably damaging	1.00
3-1:Adam33	UTSW	2	130,896,041 (GRCm39)	splice site	probably null
R0012:Adam33	UTSW	2	130,894,840 (GRCm39)	missense	probably damaging	1.00
R0471:Adam33	UTSW	2	130,896,399 (GRCm39)	missense	probably damaging	0.99
R1401:Adam33	UTSW	2	130,893,391 (GRCm39)	unclassified	probably benign
R2071:Adam33	UTSW	2	130,897,266 (GRCm39)	missense	probably benign	0.01
R2095:Adam33	UTSW	2	130,895,629 (GRCm39)	missense	probably damaging	1.00
R2383:Adam33	UTSW	2	130,893,282 (GRCm39)	missense	probably benign	0.01
R4077:Adam33	UTSW	2	130,905,444 (GRCm39)	utr 5 prime	probably benign
R4403:Adam33	UTSW	2	130,895,190 (GRCm39)	missense	probably benign	0.03
R4821:Adam33	UTSW	2	130,903,115 (GRCm39)	missense	probably benign	0.03
R5110:Adam33	UTSW	2	130,895,690 (GRCm39)	missense	probably damaging	1.00
R5150:Adam33	UTSW	2	130,895,117 (GRCm39)	intron	probably benign
R5364:Adam33	UTSW	2	130,896,392 (GRCm39)	critical splice donor site	probably null
R5632:Adam33	UTSW	2	130,895,362 (GRCm39)	missense	probably damaging	1.00
R5818:Adam33	UTSW	2	130,896,278 (GRCm39)	missense	possibly damaging	0.51
R6226:Adam33	UTSW	2	130,897,530 (GRCm39)	missense	probably damaging	1.00
R6478:Adam33	UTSW	2	130,893,266 (GRCm39)	missense	probably benign	0.01
R6755:Adam33	UTSW	2	130,895,069 (GRCm39)	missense	probably damaging	1.00
R7230:Adam33	UTSW	2	130,895,483 (GRCm39)	missense	probably damaging	1.00
R7395:Adam33	UTSW	2	130,903,089 (GRCm39)	missense	probably benign	0.00
R7650:Adam33	UTSW	2	130,903,067 (GRCm39)	missense	probably damaging	1.00
R7783:Adam33	UTSW	2	130,900,257 (GRCm39)	missense	unknown
R7809:Adam33	UTSW	2	130,893,266 (GRCm39)	missense	probably benign
R7932:Adam33	UTSW	2	130,905,617 (GRCm39)	unclassified	probably benign
R8210:Adam33	UTSW	2	130,898,250 (GRCm39)	missense	probably benign
R8969:Adam33	UTSW	2	130,894,994 (GRCm39)	missense	probably damaging	1.00
R9102:Adam33	UTSW	2	130,897,737 (GRCm39)	missense	probably benign	0.01
R9449:Adam33	UTSW	2	130,895,606 (GRCm39)	missense	possibly damaging	0.47
R9650:Adam33	UTSW	2	130,894,989 (GRCm39)	missense	possibly damaging	0.48
R9720:Adam33	UTSW	2	130,900,236 (GRCm39)	missense
Z1177:Adam33	UTSW	2	130,900,582 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TATCTGGGAGCACAAAGGCC -3'
(R):5'- TTCTACTGAGGGCAAGCTCC -3'

Sequencing Primer
(F):5'- AGTCCATAGTCACTATGTGCGGC -3'
(R):5'- CACCCGTGGAACTGAGGC -3'

Posted On

2019-06-26