Mutagenetix > Incidental Mutation

Incidental Mutation 'R2363:Adam23'

247202

Institutional Source

Beutler Lab

Gene Symbol

Adam23

Ensembl Gene

ENSMUSG00000025964

Gene Name

a disintegrin and metallopeptidase domain 23

Synonyms

MDC3

MMRRC Submission

040344-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2363 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63484880-63635263 bp(+) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 63596650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087374] [ENSMUST00000087374] [ENSMUST00000087374] [ENSMUST00000087374] [ENSMUST00000114103] [ENSMUST00000114103] [ENSMUST00000114103] [ENSMUST00000114103] [ENSMUST00000114107] [ENSMUST00000114107] [ENSMUST00000114107] [ENSMUST00000114107]

AlphaFold

Q9R1V7

Predicted Effect

probably null
Transcript: ENSMUST00000087374

SMART Domains

Protein: ENSMUSP00000084633
Gene: ENSMUSG00000025964

Domain	Start	End	E-Value	Type
signal peptide	1	55	N/A	INTRINSIC
Pfam:Pep_M12B_propep	89	247	1.8e-30	PFAM
Pfam:Reprolysin_5	295	470	4.3e-9	PFAM
Pfam:Reprolysin	296	493	1.1e-58	PFAM
Pfam:Reprolysin_3	320	426	1.4e-8	PFAM
DISIN	508	583	2.81e-28	SMART
ACR	584	725	1.11e-60	SMART
EGF	732	766	1.87e1	SMART
transmembrane domain	791	813	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000087374

SMART Domains

Protein: ENSMUSP00000084633
Gene: ENSMUSG00000025964

Domain	Start	End	E-Value	Type
signal peptide	1	55	N/A	INTRINSIC
Pfam:Pep_M12B_propep	89	247	1.8e-30	PFAM
Pfam:Reprolysin_5	295	470	4.3e-9	PFAM
Pfam:Reprolysin	296	493	1.1e-58	PFAM
Pfam:Reprolysin_3	320	426	1.4e-8	PFAM
DISIN	508	583	2.81e-28	SMART
ACR	584	725	1.11e-60	SMART
EGF	732	766	1.87e1	SMART
transmembrane domain	791	813	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000087374

SMART Domains

Protein: ENSMUSP00000084633
Gene: ENSMUSG00000025964

Domain	Start	End	E-Value	Type
signal peptide	1	55	N/A	INTRINSIC
Pfam:Pep_M12B_propep	89	247	1.8e-30	PFAM
Pfam:Reprolysin_5	295	470	4.3e-9	PFAM
Pfam:Reprolysin	296	493	1.1e-58	PFAM
Pfam:Reprolysin_3	320	426	1.4e-8	PFAM
DISIN	508	583	2.81e-28	SMART
ACR	584	725	1.11e-60	SMART
EGF	732	766	1.87e1	SMART
transmembrane domain	791	813	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000087374

SMART Domains

Protein: ENSMUSP00000084633
Gene: ENSMUSG00000025964

Domain	Start	End	E-Value	Type
signal peptide	1	55	N/A	INTRINSIC
Pfam:Pep_M12B_propep	89	247	1.8e-30	PFAM
Pfam:Reprolysin_5	295	470	4.3e-9	PFAM
Pfam:Reprolysin	296	493	1.1e-58	PFAM
Pfam:Reprolysin_3	320	426	1.4e-8	PFAM
DISIN	508	583	2.81e-28	SMART
ACR	584	725	1.11e-60	SMART
EGF	732	766	1.87e1	SMART
transmembrane domain	791	813	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000097717

SMART Domains

Protein: ENSMUSP00000095324
Gene: ENSMUSG00000025964

Domain	Start	End	E-Value	Type
Pfam:Pep_M12B_propep	2	63	6.3e-16	PFAM
Pfam:Reprolysin_5	111	286	2.7e-7	PFAM
Pfam:Reprolysin	112	309	5.7e-57	PFAM
Pfam:Reprolysin_3	136	240	8.7e-7	PFAM
DISIN	324	399	1.4e-30	SMART
ACR	400	541	3.6e-63	SMART
EGF	548	582	9e-2	SMART
transmembrane domain	607	629	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000114101

SMART Domains

Protein: ENSMUSP00000109736
Gene: ENSMUSG00000025964

Domain	Start	End	E-Value	Type
signal peptide	1	55	N/A	INTRINSIC
Pfam:Pep_M12B_propep	87	247	1.3e-30	PFAM
Pfam:Reprolysin_5	295	470	3.3e-9	PFAM
Pfam:Reprolysin	296	493	8.1e-59	PFAM
Pfam:Reprolysin_3	320	426	1.1e-8	PFAM
DISIN	508	583	2.81e-28	SMART
ACR	584	686	4.34e-31	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000114103

SMART Domains

Protein: ENSMUSP00000139862
Gene: ENSMUSG00000025964

Domain	Start	End	E-Value	Type
signal peptide	1	55	N/A	INTRINSIC
Pfam:Pep_M12B_propep	89	247	1.8e-30	PFAM
Pfam:Reprolysin_5	295	470	4.3e-9	PFAM
Pfam:Reprolysin	296	493	1.1e-58	PFAM
Pfam:Reprolysin_3	320	426	1.4e-8	PFAM
DISIN	508	583	2.81e-28	SMART
ACR	584	725	1.11e-60	SMART
EGF	732	766	1.87e1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000114103

SMART Domains

Protein: ENSMUSP00000139862
Gene: ENSMUSG00000025964

Domain	Start	End	E-Value	Type
signal peptide	1	55	N/A	INTRINSIC
Pfam:Pep_M12B_propep	89	247	1.8e-30	PFAM
Pfam:Reprolysin_5	295	470	4.3e-9	PFAM
Pfam:Reprolysin	296	493	1.1e-58	PFAM
Pfam:Reprolysin_3	320	426	1.4e-8	PFAM
DISIN	508	583	2.81e-28	SMART
ACR	584	725	1.11e-60	SMART
EGF	732	766	1.87e1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000114103

SMART Domains

Protein: ENSMUSP00000139862
Gene: ENSMUSG00000025964

Domain	Start	End	E-Value	Type
signal peptide	1	55	N/A	INTRINSIC
Pfam:Pep_M12B_propep	89	247	1.8e-30	PFAM
Pfam:Reprolysin_5	295	470	4.3e-9	PFAM
Pfam:Reprolysin	296	493	1.1e-58	PFAM
Pfam:Reprolysin_3	320	426	1.4e-8	PFAM
DISIN	508	583	2.81e-28	SMART
ACR	584	725	1.11e-60	SMART
EGF	732	766	1.87e1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000114103

SMART Domains

Protein: ENSMUSP00000139862
Gene: ENSMUSG00000025964

Domain	Start	End	E-Value	Type
signal peptide	1	55	N/A	INTRINSIC
Pfam:Pep_M12B_propep	89	247	1.8e-30	PFAM
Pfam:Reprolysin_5	295	470	4.3e-9	PFAM
Pfam:Reprolysin	296	493	1.1e-58	PFAM
Pfam:Reprolysin_3	320	426	1.4e-8	PFAM
DISIN	508	583	2.81e-28	SMART
ACR	584	725	1.11e-60	SMART
EGF	732	766	1.87e1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000114107

SMART Domains

Protein: ENSMUSP00000109742
Gene: ENSMUSG00000025964

Domain	Start	End	E-Value	Type
signal peptide	1	55	N/A	INTRINSIC
Pfam:Pep_M12B_propep	89	247	1.8e-30	PFAM
Pfam:Reprolysin_5	295	470	4.3e-9	PFAM
Pfam:Reprolysin	296	493	1.1e-58	PFAM
Pfam:Reprolysin_3	320	426	1.4e-8	PFAM
DISIN	508	583	2.81e-28	SMART
ACR	584	725	1.11e-60	SMART
EGF	732	766	1.87e1	SMART
transmembrane domain	791	813	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000114107

SMART Domains

Protein: ENSMUSP00000109742
Gene: ENSMUSG00000025964

Domain	Start	End	E-Value	Type
signal peptide	1	55	N/A	INTRINSIC
Pfam:Pep_M12B_propep	89	247	1.8e-30	PFAM
Pfam:Reprolysin_5	295	470	4.3e-9	PFAM
Pfam:Reprolysin	296	493	1.1e-58	PFAM
Pfam:Reprolysin_3	320	426	1.4e-8	PFAM
DISIN	508	583	2.81e-28	SMART
ACR	584	725	1.11e-60	SMART
EGF	732	766	1.87e1	SMART
transmembrane domain	791	813	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000114107

SMART Domains

Protein: ENSMUSP00000109742
Gene: ENSMUSG00000025964

Domain	Start	End	E-Value	Type
signal peptide	1	55	N/A	INTRINSIC
Pfam:Pep_M12B_propep	89	247	1.8e-30	PFAM
Pfam:Reprolysin_5	295	470	4.3e-9	PFAM
Pfam:Reprolysin	296	493	1.1e-58	PFAM
Pfam:Reprolysin_3	320	426	1.4e-8	PFAM
DISIN	508	583	2.81e-28	SMART
ACR	584	725	1.11e-60	SMART
EGF	732	766	1.87e1	SMART
transmembrane domain	791	813	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000114107

SMART Domains

Protein: ENSMUSP00000109742
Gene: ENSMUSG00000025964

Domain	Start	End	E-Value	Type
signal peptide	1	55	N/A	INTRINSIC
Pfam:Pep_M12B_propep	89	247	1.8e-30	PFAM
Pfam:Reprolysin_5	295	470	4.3e-9	PFAM
Pfam:Reprolysin	296	493	1.1e-58	PFAM
Pfam:Reprolysin_3	320	426	1.4e-8	PFAM
DISIN	508	583	2.81e-28	SMART
ACR	584	725	1.11e-60	SMART
EGF	732	766	1.87e1	SMART
transmembrane domain	791	813	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134704

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182642

SMART Domains

Protein: ENSMUSP00000138362
Gene: ENSMUSG00000025964

Domain	Start	End	E-Value	Type
signal peptide	1	55	N/A	INTRINSIC
Pfam:Pep_M12B_propep	89	247	2.2e-30	PFAM
Pfam:Reprolysin_5	295	470	4.6e-9	PFAM
Pfam:Reprolysin	296	493	1.4e-58	PFAM
Pfam:Reprolysin_3	320	426	1.6e-8	PFAM
DISIN	508	583	2.81e-28	SMART
ACR	584	725	1.11e-60	SMART
EGF	732	766	1.87e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182642

SMART Domains

Protein: ENSMUSP00000138362
Gene: ENSMUSG00000025964

Domain	Start	End	E-Value	Type
signal peptide	1	55	N/A	INTRINSIC
Pfam:Pep_M12B_propep	89	247	2.2e-30	PFAM
Pfam:Reprolysin_5	295	470	4.6e-9	PFAM
Pfam:Reprolysin	296	493	1.4e-58	PFAM
Pfam:Reprolysin_3	320	426	1.6e-8	PFAM
DISIN	508	583	2.81e-28	SMART
ACR	584	725	1.11e-60	SMART
EGF	732	766	1.87e1	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

98% (51/52)

MGI Phenotype

FUNCTION: This gene encodes a member of the disintegrin family of membrane-anchored proteins that play a role in diverse biological processes such as brain development, fertilization, tumor development and inflammation. The encoded protein undergoes proteolytic processing to generate a mature polypeptide comprised of an inactive metalloprotease and disintegrin domains. Transgenic disruption of this gene in mice results in postnatal neurological defects including tremor and ataxia resulting in death by 2 weeks of age. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for an insertional mutation that inactivates the gene are smaller than normal littermates, show delayed lung development, are lethal by postnatal day 14, and display severe tremor and ataxia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	T	C	2: 103,397,528 (GRCm39)	C153R	probably damaging	Het
Adpgk	G	T	9: 59,222,136 (GRCm39)	M354I	probably benign	Het
Atmin	G	T	8: 117,681,653 (GRCm39)		probably null	Het
C1rl	G	A	6: 124,486,069 (GRCm39)	G480D	probably benign	Het
C4b	G	A	17: 34,955,032 (GRCm39)		probably benign	Het
Cacnb1	G	A	11: 97,903,672 (GRCm39)	T127I	possibly damaging	Het
Cmya5	A	T	13: 93,230,210 (GRCm39)	V1626E	probably benign	Het
Cndp2	C	T	18: 84,686,694 (GRCm39)	G443S	probably damaging	Het
Crb1	A	G	1: 139,265,016 (GRCm39)	I134T	possibly damaging	Het
Dnaaf3	T	C	7: 4,535,276 (GRCm39)		probably null	Het
Enam	C	T	5: 88,651,008 (GRCm39)	P764L	probably benign	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fbln1	G	A	15: 85,111,341 (GRCm39)		probably null	Het
Flnb	A	G	14: 7,945,950 (GRCm38)	I2452V	possibly damaging	Het
Fmo3	A	T	1: 162,781,884 (GRCm39)	W490R	probably damaging	Het
Gabrb1	C	T	5: 72,026,916 (GRCm39)	R106*	probably null	Het
Galnt4	C	T	10: 98,944,923 (GRCm39)	T216I	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Golph3	A	G	15: 12,349,649 (GRCm39)	D223G	probably benign	Het
Herc4	T	A	10: 63,151,473 (GRCm39)	F905I	possibly damaging	Het
Il23r	T	C	6: 67,429,401 (GRCm39)	T314A	probably benign	Het
Lrrtm4	T	C	6: 79,998,857 (GRCm39)	W90R	probably damaging	Het
Maml2	C	T	9: 13,532,541 (GRCm39)	T585I	probably damaging	Het
Mpp3	G	A	11: 101,911,312 (GRCm39)	A170V	probably damaging	Het
Naip6	T	A	13: 100,452,928 (GRCm39)	K44N	possibly damaging	Het
Or10aa3	C	T	1: 173,878,814 (GRCm39)	R292C	probably damaging	Het
Or10ak7	C	T	4: 118,791,230 (GRCm39)	E272K	probably benign	Het
Or1e17	A	G	11: 73,831,182 (GRCm39)	T37A	possibly damaging	Het
Or4k51	C	T	2: 111,585,139 (GRCm39)	P182S	probably damaging	Het
Or51b6	T	A	7: 103,556,267 (GRCm39)	M207K	probably benign	Het
Or6f2	A	G	7: 139,756,878 (GRCm39)	T282A	probably damaging	Het
Or7e165	T	G	9: 19,694,892 (GRCm39)	I154M	probably benign	Het
Or8c10	T	C	9: 38,279,394 (GRCm39)	I174T	probably damaging	Het
Pak1	T	A	7: 97,535,521 (GRCm39)	V204E	probably benign	Het
Pcdhb10	T	A	18: 37,547,190 (GRCm39)	C755*	probably null	Het
Pcdhb20	A	G	18: 37,638,725 (GRCm39)	Y417C	probably damaging	Het
Pkd1l3	G	T	8: 110,355,341 (GRCm39)	W723L	probably benign	Het
Plin1	C	T	7: 79,376,139 (GRCm39)		probably null	Het
Polr3a	A	T	14: 24,525,960 (GRCm39)		probably null	Het
Ranbp2	A	T	10: 58,314,758 (GRCm39)	K1826I	possibly damaging	Het
Rapgef1	A	G	2: 29,626,608 (GRCm39)	I970V	possibly damaging	Het
Rdx	C	A	9: 51,980,173 (GRCm39)	F255L	probably damaging	Het
Rp1l1	A	T	14: 64,267,447 (GRCm39)	H1011L	possibly damaging	Het
Serpina6	T	C	12: 103,614,868 (GRCm39)	D326G	probably benign	Het
Sh3tc2	A	G	18: 62,123,966 (GRCm39)	E909G	probably benign	Het
Shprh	T	A	10: 11,047,697 (GRCm39)	V1015D	probably damaging	Het
Slfn8	A	T	11: 82,894,920 (GRCm39)	Y629N	probably damaging	Het
Triml1	A	G	8: 43,594,408 (GRCm39)	S8P	probably damaging	Het

Other mutations in Adam23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00518:Adam23	APN	1	63,610,113 (GRCm39)	missense	probably damaging	0.99
IGL00957:Adam23	APN	1	63,573,470 (GRCm39)	missense	probably benign	0.27
IGL01338:Adam23	APN	1	63,591,014 (GRCm39)	missense	possibly damaging	0.50
IGL01835:Adam23	APN	1	63,582,278 (GRCm39)	missense	probably damaging	1.00
IGL01928:Adam23	APN	1	63,596,605 (GRCm39)	missense	probably damaging	1.00
IGL02563:Adam23	APN	1	63,607,136 (GRCm39)	splice site	probably benign
IGL02981:Adam23	APN	1	63,610,112 (GRCm39)	missense	probably damaging	0.99
IGL03037:Adam23	APN	1	63,610,176 (GRCm39)	missense	possibly damaging	0.63
IGL03176:Adam23	APN	1	63,602,575 (GRCm39)	missense	probably damaging	1.00
BB007:Adam23	UTSW	1	63,624,586 (GRCm39)	missense	possibly damaging	0.89
BB017:Adam23	UTSW	1	63,624,586 (GRCm39)	missense	possibly damaging	0.89
IGL02991:Adam23	UTSW	1	63,586,978 (GRCm39)	critical splice donor site	probably null
R0057:Adam23	UTSW	1	63,610,078 (GRCm39)	missense	probably damaging	1.00
R0057:Adam23	UTSW	1	63,610,078 (GRCm39)	missense	probably damaging	1.00
R0125:Adam23	UTSW	1	63,573,515 (GRCm39)	missense	probably benign	0.00
R0477:Adam23	UTSW	1	63,596,559 (GRCm39)	splice site	probably benign
R0538:Adam23	UTSW	1	63,607,003 (GRCm39)	splice site	probably benign
R0617:Adam23	UTSW	1	63,582,306 (GRCm39)	missense	probably benign	0.06
R1506:Adam23	UTSW	1	63,586,973 (GRCm39)	missense	probably benign	0.01
R1599:Adam23	UTSW	1	63,610,092 (GRCm39)	missense	possibly damaging	0.65
R1755:Adam23	UTSW	1	63,582,329 (GRCm39)	missense	probably damaging	1.00
R1813:Adam23	UTSW	1	63,584,731 (GRCm39)	missense	probably benign	0.07
R1858:Adam23	UTSW	1	63,596,615 (GRCm39)	missense	probably benign	0.12
R1896:Adam23	UTSW	1	63,584,731 (GRCm39)	missense	probably benign	0.07
R1943:Adam23	UTSW	1	63,516,916 (GRCm39)	critical splice donor site	probably null
R2147:Adam23	UTSW	1	63,573,521 (GRCm39)	splice site	probably null
R2211:Adam23	UTSW	1	63,612,288 (GRCm39)	intron	probably benign
R2233:Adam23	UTSW	1	63,584,671 (GRCm39)	missense	probably benign
R2249:Adam23	UTSW	1	63,574,335 (GRCm39)	nonsense	probably null
R3800:Adam23	UTSW	1	63,590,933 (GRCm39)	nonsense	probably null
R3974:Adam23	UTSW	1	63,586,888 (GRCm39)	nonsense	probably null
R3975:Adam23	UTSW	1	63,586,888 (GRCm39)	nonsense	probably null
R4066:Adam23	UTSW	1	63,602,584 (GRCm39)	missense	probably damaging	1.00
R4382:Adam23	UTSW	1	63,605,787 (GRCm39)	missense	probably damaging	1.00
R4383:Adam23	UTSW	1	63,605,787 (GRCm39)	missense	probably damaging	1.00
R4384:Adam23	UTSW	1	63,605,787 (GRCm39)	missense	probably damaging	1.00
R4385:Adam23	UTSW	1	63,605,787 (GRCm39)	missense	probably damaging	1.00
R5385:Adam23	UTSW	1	63,590,970 (GRCm39)	missense	possibly damaging	0.74
R5435:Adam23	UTSW	1	63,585,612 (GRCm39)	missense	possibly damaging	0.73
R6465:Adam23	UTSW	1	63,605,827 (GRCm39)	missense	probably damaging	1.00
R6490:Adam23	UTSW	1	63,596,613 (GRCm39)	missense	probably damaging	1.00
R6967:Adam23	UTSW	1	63,602,495 (GRCm39)	splice site	probably null
R7139:Adam23	UTSW	1	63,584,736 (GRCm39)	missense	probably damaging	1.00
R7584:Adam23	UTSW	1	63,584,621 (GRCm39)	missense	probably damaging	1.00
R7930:Adam23	UTSW	1	63,624,586 (GRCm39)	missense	possibly damaging	0.89
R8261:Adam23	UTSW	1	63,567,957 (GRCm39)	missense	noncoding transcript
R8425:Adam23	UTSW	1	63,624,536 (GRCm39)	missense	probably damaging	1.00
R8818:Adam23	UTSW	1	63,584,627 (GRCm39)	missense	probably damaging	1.00
R8887:Adam23	UTSW	1	63,554,744 (GRCm39)	missense	probably damaging	1.00
R8890:Adam23	UTSW	1	63,624,524 (GRCm39)	missense	possibly damaging	0.67
R8989:Adam23	UTSW	1	63,588,948 (GRCm39)	missense	probably damaging	0.96
R9307:Adam23	UTSW	1	63,576,131 (GRCm39)	missense	probably damaging	1.00
R9469:Adam23	UTSW	1	63,584,671 (GRCm39)	missense	probably benign
R9599:Adam23	UTSW	1	63,620,359 (GRCm39)	missense	probably benign	0.41
R9609:Adam23	UTSW	1	63,576,102 (GRCm39)	missense	probably benign	0.03
R9774:Adam23	UTSW	1	63,585,583 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- GGGATTATGATAAAGCCCAGGC -3'
(R):5'- GCATGTAAGATGTGGGGACC -3'

Sequencing Primer
(F):5'- CCAGGCTTGTGGGTAGATGC -3'
(R):5'- AGGTCTATACTCACAGTCTTT -3'

Posted On

2014-10-30