Mutagenetix > Incidental Mutation

Incidental Mutation 'R0125:Adam23'

21254

Institutional Source

Beutler Lab

Gene Symbol

Adam23

Ensembl Gene

ENSMUSG00000025964

Gene Name

a disintegrin and metallopeptidase domain 23

Synonyms

MDC3

MMRRC Submission

038410-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0125 (G1)

Quality Score

220

Status

Validated (trace)

Chromosome

Chromosomal Location

63484880-63635263 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63573515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 261 (L261P)

Ref Sequence

ENSEMBL: ENSMUSP00000109742 (fasta)

Gene Model

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

AlphaFold

Q9R1V7

Predicted Effect

probably benign
Transcript: ENSMUST00000087374
AA Change: L261P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000084633
Gene: ENSMUSG00000025964
AA Change: L261P

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 benign
Transcript: ENSMUST00000114103
AA Change: L261P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139862
Gene: ENSMUSG00000025964
AA Change: L261P

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 benign
Transcript: ENSMUST00000114107
AA Change: L261P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109742
Gene: ENSMUSG00000025964
AA Change: L261P

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: ENSMUST00000146403

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: ENSMUST00000190658

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185616

Meta Mutation Damage Score

0.0871

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.1%

Validation Efficiency

98% (96/98)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	T	C	14: 70,394,096 (GRCm39)		probably benign	Het
Adgra3	G	A	5: 50,159,194 (GRCm39)		probably benign	Het
Agtr1b	A	G	3: 20,369,704 (GRCm39)	F301L	probably benign	Het
Ahnak2	G	A	12: 112,748,776 (GRCm39)	T357I	probably benign	Het
Aldh1a7	T	C	19: 20,704,430 (GRCm39)		probably benign	Het
Apoh	A	T	11: 108,302,899 (GRCm39)	N288I	probably damaging	Het
Arfgap3	A	G	15: 83,227,340 (GRCm39)	V24A	probably benign	Het
Atp6v0a1	A	G	11: 100,929,677 (GRCm39)		probably null	Het
Axl	A	T	7: 25,486,368 (GRCm39)	M112K	probably benign	Het
Bnc2	A	C	4: 84,211,169 (GRCm39)	I425S	probably damaging	Het
Ccn4	T	C	15: 66,789,194 (GRCm39)	S227P	possibly damaging	Het
Cdc42bpa	C	T	1: 179,788,763 (GRCm39)	T30M	probably damaging	Het
Cebpz	C	A	17: 79,227,317 (GRCm39)	R1051M	possibly damaging	Het
Ces1d	A	C	8: 93,901,810 (GRCm39)		probably benign	Het
Chd1l	T	C	3: 97,494,465 (GRCm39)	N405S	probably benign	Het
Chodl	G	T	16: 78,738,311 (GRCm39)	G93V	probably damaging	Het
Cpeb2	C	T	5: 43,395,743 (GRCm39)		probably benign	Het
Crebbp	A	G	16: 3,935,105 (GRCm39)		probably benign	Het
Crybb3	T	C	5: 113,227,675 (GRCm39)	T49A	possibly damaging	Het
Ctps1	A	G	4: 120,418,722 (GRCm39)		probably benign	Het
Cyp26b1	A	G	6: 84,551,497 (GRCm39)	Y240H	probably damaging	Het
Cyp2d11	A	C	15: 82,273,422 (GRCm39)	V483G	probably benign	Het
Dennd2b	T	C	7: 109,155,545 (GRCm39)	K402E	probably benign	Het
Dnah14	A	T	1: 181,579,628 (GRCm39)	N3054Y	probably damaging	Het
Dspp	A	C	5: 104,325,905 (GRCm39)	D756A	unknown	Het
Dst	T	C	1: 34,309,984 (GRCm39)	S1553P	probably damaging	Het
Elp4	A	G	2: 105,622,559 (GRCm39)		probably null	Het
Eml6	G	T	11: 29,832,088 (GRCm39)	T194K	probably benign	Het
Evi5	A	G	5: 107,943,638 (GRCm39)	I569T	probably benign	Het
Fancm	C	T	12: 65,168,730 (GRCm39)	P1698S	possibly damaging	Het
Fhdc1	T	C	3: 84,352,852 (GRCm39)	D791G	probably benign	Het
Frem1	A	G	4: 82,930,188 (GRCm39)	Y253H	probably damaging	Het
Gpn3	A	G	5: 122,519,481 (GRCm39)	Y196C	probably benign	Het
Hcls1	A	G	16: 36,782,525 (GRCm39)	D398G	probably benign	Het
Hydin	T	C	8: 111,189,163 (GRCm39)	V1189A	probably benign	Het
Itgb3	G	A	11: 104,534,789 (GRCm39)	D549N	probably damaging	Het
Itpr2	A	G	6: 146,141,951 (GRCm39)	F1697S	probably benign	Het
Klk1b11	A	G	7: 43,648,475 (GRCm39)	T161A	probably benign	Het
Kntc1	G	A	5: 123,903,120 (GRCm39)		probably benign	Het
Map3k19	A	T	1: 127,750,837 (GRCm39)	F838Y	probably benign	Het
Map6	T	A	7: 98,985,187 (GRCm39)		probably null	Het
Mcrs1	A	G	15: 99,142,608 (GRCm39)		probably benign	Het
Mdn1	A	T	4: 32,729,956 (GRCm39)	Y2766F	probably damaging	Het
Med23	C	T	10: 24,776,686 (GRCm39)	H739Y	probably damaging	Het
Mmp17	T	A	5: 129,671,646 (GRCm39)	D65E	possibly damaging	Het
Mmp9	T	A	2: 164,793,177 (GRCm39)	L442Q	probably damaging	Het
Myo19	T	C	11: 84,779,001 (GRCm39)		probably benign	Het
Nedd1	A	C	10: 92,527,791 (GRCm39)	S468A	possibly damaging	Het
Niban2	T	A	2: 32,813,833 (GRCm39)	V682D	probably benign	Het
Nlrp4d	A	C	7: 10,116,316 (GRCm39)	V152G	probably damaging	Het
Nxf1	T	A	19: 8,740,170 (GRCm39)	D112E	probably benign	Het
Oas1h	A	T	5: 121,000,626 (GRCm39)	K79*	probably null	Het
Omg	T	A	11: 79,393,679 (GRCm39)	I60F	possibly damaging	Het
Or5p69	A	G	7: 107,967,576 (GRCm39)	Y293C	probably damaging	Het
Or8b101	A	G	9: 38,020,815 (GRCm39)	T278A	probably benign	Het
Or8b1b	T	A	9: 38,375,757 (GRCm39)	L140*	probably null	Het
Pck1	G	A	2: 172,997,874 (GRCm39)	W314*	probably null	Het
Pla2g15	T	C	8: 106,889,756 (GRCm39)	Y343H	probably benign	Het
Plcb3	T	C	19: 6,936,276 (GRCm39)	E749G	probably damaging	Het
Plgrkt	A	G	19: 29,328,442 (GRCm39)		probably null	Het
Pprc1	A	G	19: 46,057,951 (GRCm39)		probably benign	Het
Prkdc	A	T	16: 15,516,871 (GRCm39)	I1082F	probably damaging	Het
Rapgef6	T	A	11: 54,516,701 (GRCm39)	Y172*	probably null	Het
Ros1	G	T	10: 52,001,885 (GRCm39)	A1079D	probably benign	Het
Sap30	T	C	8: 57,938,545 (GRCm39)	E147G	probably null	Het
Sell	T	C	1: 163,899,674 (GRCm39)		probably benign	Het
Senp1	A	T	15: 97,946,112 (GRCm39)	D544E	probably damaging	Het
Shpk	G	A	11: 73,105,048 (GRCm39)		probably benign	Het
Slc35b1	A	T	11: 95,277,353 (GRCm39)	T74S	probably benign	Het
Slc6a3	T	A	13: 73,718,098 (GRCm39)		probably benign	Het
Slf1	T	C	13: 77,191,864 (GRCm39)	N990S	probably benign	Het
Smgc	A	G	15: 91,738,746 (GRCm39)		probably benign	Het
Snx19	T	A	9: 30,351,515 (GRCm39)	V861D	probably damaging	Het
Sprr2e	C	T	3: 92,260,285 (GRCm39)	P39S	unknown	Het
Sstr2	T	A	11: 113,515,303 (GRCm39)	M74K	probably damaging	Het
Svep1	T	C	4: 58,099,937 (GRCm39)		probably benign	Het
Tas2r143	A	G	6: 42,377,889 (GRCm39)	I240V	probably benign	Het
Tbrg1	T	C	9: 37,563,937 (GRCm39)	I233V	probably benign	Het
Tecpr1	G	T	5: 144,134,717 (GRCm39)	D1055E	probably damaging	Het
Thap2	A	T	10: 115,212,277 (GRCm39)		probably null	Het
Tinagl1	A	G	4: 130,060,101 (GRCm39)	Y388H	probably damaging	Het
Ttn	T	A	2: 76,585,896 (GRCm39)	Y21945F	probably damaging	Het
Ugt2b1	A	T	5: 87,073,961 (GRCm39)	W133R	probably benign	Het
Usp24	C	T	4: 106,254,496 (GRCm39)	P1491L	possibly damaging	Het
Utp15	A	G	13: 98,387,390 (GRCm39)	S395P	possibly damaging	Het
Vav1	T	A	17: 57,606,847 (GRCm39)	L254Q	probably damaging	Het
Vmn2r104	T	C	17: 20,250,069 (GRCm39)	Y734C	probably damaging	Het
Vps8	T	A	16: 21,288,904 (GRCm39)	V421E	probably benign	Het
Xkr7	G	T	2: 152,874,346 (GRCm39)	A138S	probably benign	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
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
R2363:Adam23	UTSW	1	63,596,650 (GRCm39)	splice site	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'- GCAGCATTATGCAAGCACAGTTCC -3'
(R):5'- GAAGCCTTTGCCAACATCAGCATAC -3'

Sequencing Primer
(F):5'- TTCAGAAAAGCACAGGCCGA -3'
(R):5'- CAGCATACTGAAGATGCTTCTGG -3'

Posted On

2013-04-11