Mutagenetix > Incidental Mutation

Incidental Mutation 'R7395:Adam33'

573710

Institutional Source

Beutler Lab

Gene Symbol

Adam33

Ensembl Gene

ENSMUSG00000027318

Gene Name

a disintegrin and metallopeptidase domain 33

Synonyms

MMRRC Submission

Accession Numbers

Genbank: NM_033615, NM_001163529; MGI: 1341813

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7395 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131050591-131063814 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 131061169 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Glycine at position 52 (W52G)

Ref Sequence

ENSEMBL: ENSMUSP00000105861 (fasta)

Gene Model

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

AlphaFold

Q923W9

Predicted Effect

probably benign
Transcript: ENSMUST00000052104
AA Change: W52G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000052486
Gene: ENSMUSG00000027318
AA Change: W52G

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 benign
Transcript: ENSMUST00000110232
AA Change: W52G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000105861
Gene: ENSMUSG00000027318
AA Change: W52G

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

probably benign
Transcript: ENSMUST00000135149

SMART Domains

Protein: ENSMUSP00000122608
Gene: ENSMUSG00000027318

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

SMART Domains

Protein: ENSMUSP00000117097
Gene: ENSMUSG00000027318
AA Change: W51G

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 benign
Transcript: ENSMUST00000183552
AA Change: W52G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000139344
Gene: ENSMUSG00000027318
AA Change: W52G

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

Meta Mutation Damage Score

0.2154

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (92/93)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830403N18Rik	G	T	X: 56,138,780		probably null	Het
4930433I11Rik	A	T	7: 40,989,678	T13S	probably damaging	Het
Abca13	A	G	11: 9,291,658	I1174V	probably benign	Het
Acoxl	G	A	2: 127,884,416	V237M	probably damaging	Het
Adgrv1	T	C	13: 81,559,348	H1313R	probably damaging	Het
Ap3d1	T	C	10: 80,730,882	T89A	probably benign	Het
Armc8	T	C	9: 99,533,132	E165G	probably damaging	Het
Atp6v1c1	T	C	15: 38,691,705	*383Q	probably null	Het
Atp8b4	A	T	2: 126,375,694	L634Q	possibly damaging	Het
B3glct	A	G	5: 149,725,604		probably null	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
Bicd2	A	G	13: 49,378,230	D316G	possibly damaging	Het
Bop1	A	T	15: 76,453,841	S610T	probably damaging	Het
Car11	T	A	7: 45,701,321	Y80*	probably null	Het
Ccdc96	T	C	5: 36,485,265	I205T	probably benign	Het
Ces2a	A	G	8: 104,739,641	E390G	probably benign	Het
Cfap54	C	A	10: 92,884,703	V2630L	unknown	Het
Chek2	G	T	5: 110,872,108		probably null	Het
Cntn3	C	T	6: 102,337,394		probably null	Het
Cpne3	A	T	4: 19,528,239	D339E	probably damaging	Het
Crocc2	C	T	1: 93,216,107	Q1403*	probably null	Het
Csnka2ip	G	A	16: 64,479,440	T187I		Het
Ctu1	A	G	7: 43,676,595	H226R	possibly damaging	Het
Cubn	G	T	2: 13,287,064	Q3317K	probably damaging	Het
Cyp17a1	A	G	19: 46,670,695	L169P	probably benign	Het
Dcc	T	A	18: 71,374,569	K911*	probably null	Het
Dcun1d2	G	A	8: 13,278,675	R75*	probably null	Het
Defb19	A	T	2: 152,580,023		probably null	Het
Dffb	A	T	4: 153,969,113	S257R	probably damaging	Het
Dip2c	A	C	13: 9,614,377	N942T	probably damaging	Het
Dnah3	T	A	7: 119,966,251	I169F		Het
Dnah3	T	C	7: 120,060,960	M830V	probably benign	Het
Dnajc5g	G	A	5: 31,111,665	S130N	possibly damaging	Het
Dscaml1	C	A	9: 45,702,405	Q939K	possibly damaging	Het
Evpl	G	C	11: 116,227,079	N761K	possibly damaging	Het
Fbxw8	A	T	5: 118,068,215	I556N	probably damaging	Het
Fry	G	T	5: 150,380,883	M579I	possibly damaging	Het
Ggt7	A	T	2: 155,495,880	M488K	probably benign	Het
Gm6588	A	T	5: 112,450,169	E194V	possibly damaging	Het
Gnpnat1	T	A	14: 45,381,581	H107L	probably benign	Het
Golga2	C	A	2: 32,305,587	P798Q	possibly damaging	Het
Gpr35	G	A	1: 92,983,207	A214T	probably damaging	Het
Greb1	A	T	12: 16,709,430		probably null	Het
Hdac10	G	A	15: 89,128,284	T32I	probably benign	Het
Hkdc1	G	A	10: 62,385,699	T860I	probably damaging	Het
Icam5	C	A	9: 21,035,442	P422Q	possibly damaging	Het
Ispd	A	T	12: 36,501,995	I283F	possibly damaging	Het
Ist1	A	C	8: 109,677,527	S238A	probably benign	Het
Lrig2	T	C	3: 104,497,520	N91D	probably benign	Het
Mapt	A	C	11: 104,328,123	D352A	probably damaging	Het
Micall2	G	A	5: 139,716,369	P373L	possibly damaging	Het
Mocs1	A	G	17: 49,454,557	S560G	possibly damaging	Het
Mpo	A	G	11: 87,801,124	D461G	probably damaging	Het
Myo1a	G	T	10: 127,710,440	V271L	probably damaging	Het
Ncoa1	G	A	12: 4,295,188	P720S	not run	Het
Ncr1	T	A	7: 4,338,151	I47N	probably damaging	Het
Ndufb6	G	A	4: 40,277,730	R66C	probably damaging	Het
Obox5	A	T	7: 15,758,743	S208C	probably damaging	Het
Olfr136	A	T	17: 38,335,864	K236*	probably null	Het
Olfr1494	T	C	19: 13,749,138	S11P	probably damaging	Het
Olfr39	T	A	9: 20,286,530	M285K	probably damaging	Het
Olfr501-ps1	T	A	7: 108,508,404	F116Y	unknown	Het
Padi4	A	C	4: 140,761,672	V152G	probably damaging	Het
Pdzd7	A	T	19: 45,037,011	D348E	probably damaging	Het
Pdzph1	T	A	17: 58,879,159	K1212N	possibly damaging	Het
Piezo2	C	T	18: 63,027,563	G2341R	probably damaging	Het
Plb1	A	G	5: 32,353,684	K1298E	probably benign	Het
Prr14l	A	G	5: 32,828,638	L1171P	probably benign	Het
Rab11fip5	T	C	6: 85,341,868	T680A	probably benign	Het
Rev1	A	T	1: 38,088,065	N371K	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,926		probably benign	Het
Ryr2	A	G	13: 11,785,111	C917R	probably damaging	Het
Sall1	A	T	8: 89,030,921	S852T	possibly damaging	Het
Serpine2	A	G	1: 79,801,555	F296L	probably damaging	Het
Slc12a6	A	T	2: 112,352,542	N754I	probably damaging	Het
Slc39a6	A	T	18: 24,585,275	L575Q	probably damaging	Het
Smarcc2	T	A	10: 128,485,606	L890Q	probably damaging	Het
Smg5	T	A	3: 88,361,071	V1006D	probably damaging	Het
Ssh2	T	C	11: 77,393,073	V51A	probably damaging	Het
St14	T	C	9: 31,096,899	K547E	probably benign	Het
Stag1	T	G	9: 100,796,728	V234G	probably damaging	Het
Stag3	A	T	5: 138,281,945	Q24L	probably benign	Het
Stra6	T	C	9: 58,141,097	Y158H	probably damaging	Het
Tcstv1	A	T	13: 119,894,130		probably null	Het
Tmem196	G	A	12: 120,011,267	C62Y	probably damaging	Het
Tmem265	T	A	7: 127,564,867	F84L		Het
Tph1	C	T	7: 46,657,203		probably null	Het
Ttn	A	G	2: 76,946,490	I1522T	unknown	Het
Ulk4	T	A	9: 121,255,112	Q129L	probably benign	Het
Usp17la	T	A	7: 104,861,585	S466T	probably benign	Het
Vmn2r31	A	T	7: 7,384,745	V609E	probably damaging	Het
Vmn2r52	C	T	7: 10,170,817	C365Y	probably benign	Het
Zbtb4	A	T	11: 69,776,111	T81S	possibly damaging	Het
Zfp605	A	T	5: 110,112,019		probably benign	Het

Other mutations in Adam33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Adam33	APN	2	131054263	splice site	probably benign
IGL01586:Adam33	APN	2	131054050	missense	probably damaging	1.00
IGL02156:Adam33	APN	2	131053158	splice site	probably benign
IGL02498:Adam33	APN	2	131053237	missense	probably damaging	1.00
3-1:Adam33	UTSW	2	131054121	splice site	probably null
R0012:Adam33	UTSW	2	131052920	missense	probably damaging	1.00
R0471:Adam33	UTSW	2	131054479	missense	probably damaging	0.99
R1401:Adam33	UTSW	2	131051471	unclassified	probably benign
R2071:Adam33	UTSW	2	131055346	missense	probably benign	0.01
R2095:Adam33	UTSW	2	131053709	missense	probably damaging	1.00
R2383:Adam33	UTSW	2	131051362	missense	probably benign	0.01
R4077:Adam33	UTSW	2	131063524	utr 5 prime	probably benign
R4403:Adam33	UTSW	2	131053270	missense	probably benign	0.03
R4821:Adam33	UTSW	2	131061195	missense	probably benign	0.03
R5110:Adam33	UTSW	2	131053770	missense	probably damaging	1.00
R5150:Adam33	UTSW	2	131053197	intron	probably benign
R5364:Adam33	UTSW	2	131054472	critical splice donor site	probably null
R5632:Adam33	UTSW	2	131053442	missense	probably damaging	1.00
R5818:Adam33	UTSW	2	131054358	missense	possibly damaging	0.51
R6226:Adam33	UTSW	2	131055610	missense	probably damaging	1.00
R6478:Adam33	UTSW	2	131051346	missense	probably benign	0.01
R6755:Adam33	UTSW	2	131053149	missense	probably damaging	1.00
R7230:Adam33	UTSW	2	131053563	missense	probably damaging	1.00
R7322:Adam33	UTSW	2	131053694	missense	probably damaging	1.00
R7650:Adam33	UTSW	2	131061147	missense	probably damaging	1.00
R7783:Adam33	UTSW	2	131058337	missense	unknown
R7809:Adam33	UTSW	2	131051346	missense	probably benign
R7932:Adam33	UTSW	2	131063697	unclassified	probably benign
R8210:Adam33	UTSW	2	131056330	missense	probably benign
R8969:Adam33	UTSW	2	131053074	missense	probably damaging	1.00
R9102:Adam33	UTSW	2	131055817	missense	probably benign	0.01
R9449:Adam33	UTSW	2	131053686	missense	possibly damaging	0.47
R9650:Adam33	UTSW	2	131053069	missense	possibly damaging	0.48
R9720:Adam33	UTSW	2	131058316	missense
Z1177:Adam33	UTSW	2	131058662	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- AGCCTCACGCCATCTAGATG -3'
(R):5'- GCCGCTTCAAATTCCCCAATG -3'

Sequencing Primer
(F):5'- ACGCCATCTAGATGTCTCTTTG -3'
(R):5'- CCAATGGGGATGGTTCCTG -3'

Posted On

2019-09-13