Mutagenetix > Incidental Mutation

Incidental Mutation 'R0634:Adam21'

58168

Institutional Source

Beutler Lab

Gene Symbol

Adam21

Ensembl Gene

ENSMUSG00000008438

Gene Name

a disintegrin and metallopeptidase domain 21

Synonyms

ADAM31

MMRRC Submission

038823-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0634 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81605358-81615248 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 81607126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 212 (W212L)

Ref Sequence

ENSEMBL: ENSMUSP00000008582 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008582]

AlphaFold

Q9JI76

Predicted Effect

probably benign
Transcript: ENSMUST00000008582
AA Change: W212L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000008582
Gene: ENSMUSG00000008438
AA Change: W212L

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Pep_M12B_propep	39	164	5.1e-21	PFAM
Pfam:Reprolysin_4	212	389	2.5e-11	PFAM
Pfam:Reprolysin	212	402	7.3e-50	PFAM
Pfam:Reprolysin_5	214	400	5.8e-19	PFAM
Pfam:Reprolysin_2	233	393	1.3e-14	PFAM
Pfam:Reprolysin_3	236	356	6.5e-16	PFAM
DISIN	419	494	2.45e-37	SMART
ACR	495	631	6.49e-62	SMART
EGF	637	667	2.03e1	SMART
transmembrane domain	687	709	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166971

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

Validation Efficiency

98% (62/63)

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. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional metalloprotease enzyme. The encoded protein functions in the regulation of spermatogenesis in the testes and neurogenesis in the central nervous system. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,264,491 (GRCm39)	I2958V	possibly damaging	Het
Adcy2	A	C	13: 68,876,064 (GRCm39)	H479Q	possibly damaging	Het
Adcy4	T	C	14: 56,019,054 (GRCm39)	R168G	probably benign	Het
Adrm1b	C	T	3: 92,336,116 (GRCm39)	W125*	probably null	Het
Atp13a2	T	C	4: 140,734,240 (GRCm39)		probably benign	Het
C1ra	G	A	6: 124,494,464 (GRCm39)	E304K	possibly damaging	Het
Cc2d2a	A	C	5: 43,838,723 (GRCm39)		probably benign	Het
Cenpe	T	C	3: 134,952,588 (GRCm39)	L1426P	probably damaging	Het
Cntn1	A	T	15: 92,212,444 (GRCm39)	R869*	probably null	Het
Creb3l2	A	T	6: 37,311,283 (GRCm39)		probably benign	Het
Crybg2	G	A	4: 133,802,615 (GRCm39)		probably benign	Het
Csmd1	A	T	8: 16,276,405 (GRCm39)	F800I	probably damaging	Het
Dock6	G	A	9: 21,752,823 (GRCm39)	T330I	probably damaging	Het
Ets2	G	A	16: 95,517,200 (GRCm39)	E311K	possibly damaging	Het
Fbxo22	A	T	9: 55,122,244 (GRCm39)	Q141L	probably benign	Het
Fer	C	T	17: 64,342,503 (GRCm39)	T223M	probably benign	Het
Gtf3c1	A	T	7: 125,256,649 (GRCm39)		probably benign	Het
Gtf3c2	G	A	5: 31,317,150 (GRCm39)	R684*	probably null	Het
Hs6st3	T	A	14: 120,106,474 (GRCm39)	L294*	probably null	Het
Ighg2c	T	G	12: 113,251,584 (GRCm39)	E181A	unknown	Het
Igkv6-15	A	T	6: 70,383,763 (GRCm39)		probably benign	Het
Irag2	A	T	6: 145,120,354 (GRCm39)	H523L	probably damaging	Het
Map2k6	C	T	11: 110,385,169 (GRCm39)	R178*	probably null	Het
Meikin	T	A	11: 54,281,309 (GRCm39)	D126E	probably benign	Het
Mgst1	A	T	6: 138,133,329 (GRCm39)	T37S	probably damaging	Het
Mrc2	G	A	11: 105,238,518 (GRCm39)	V1222M	probably benign	Het
Myom2	C	A	8: 15,169,216 (GRCm39)		probably benign	Het
Negr1	A	G	3: 156,721,903 (GRCm39)	K159R	possibly damaging	Het
Nptx1	T	C	11: 119,434,127 (GRCm39)	T320A	possibly damaging	Het
Or12j3	A	T	7: 139,953,310 (GRCm39)	V71E	possibly damaging	Het
Or4p21	A	T	2: 88,276,961 (GRCm39)	M107K	probably benign	Het
Or5p66	T	C	7: 107,885,503 (GRCm39)	I277V	probably benign	Het
Pes1	C	T	11: 3,927,794 (GRCm39)		probably benign	Het
Pes1	T	G	11: 3,927,795 (GRCm39)		probably benign	Het
Pkhd1	A	T	1: 20,187,698 (GRCm39)	Y3537N	probably damaging	Het
Poteg	G	A	8: 27,963,615 (GRCm39)	G289R	probably benign	Het
Pramel29	A	G	4: 143,935,910 (GRCm39)		probably null	Het
Rassf5	T	C	1: 131,172,693 (GRCm39)	R59G	probably damaging	Het
Reln	A	T	5: 22,223,867 (GRCm39)	W961R	probably damaging	Het
Rhot2	G	A	17: 26,061,002 (GRCm39)	H168Y	possibly damaging	Het
Ripk3	G	T	14: 56,025,848 (GRCm39)		probably benign	Het
Samm50	A	G	15: 84,098,372 (GRCm39)		silent	Het
Sap30bp	T	C	11: 115,848,229 (GRCm39)	I117T	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Sipa1l2	A	T	8: 126,149,363 (GRCm39)	L1632*	probably null	Het
Sirt7	T	C	11: 120,512,955 (GRCm39)		probably benign	Het
Smg8	T	C	11: 86,976,934 (GRCm39)	T216A	possibly damaging	Het
Sox9	A	G	11: 112,675,768 (GRCm39)	Y319C	probably damaging	Het
Sspn	G	A	6: 145,906,877 (GRCm39)	A27T	possibly damaging	Het
Suco	A	G	1: 161,666,373 (GRCm39)	V509A	possibly damaging	Het
Svep1	C	T	4: 58,070,661 (GRCm39)	C2375Y	possibly damaging	Het
Trbv21	T	A	6: 41,179,984 (GRCm39)		probably benign	Het
Uimc1	C	T	13: 55,208,079 (GRCm39)	E455K	possibly damaging	Het
Upk3b	A	G	5: 136,068,930 (GRCm39)	T100A	possibly damaging	Het
Usp47	A	G	7: 111,707,862 (GRCm39)	N1303D	probably damaging	Het
Vav1	A	T	17: 57,610,862 (GRCm39)	D476V	probably benign	Het
Vmn1r68	A	G	7: 10,261,162 (GRCm39)	V312A	probably benign	Het
Wdr62	A	G	7: 29,969,599 (GRCm39)	V287A	probably damaging	Het
Zcchc4	C	T	5: 52,940,550 (GRCm39)	P40S	probably benign	Het
Zfp326	T	A	5: 106,034,069 (GRCm39)	Y26*	probably null	Het
Zfp592	A	G	7: 80,687,819 (GRCm39)	H915R	probably damaging	Het

Other mutations in Adam21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02186:Adam21	APN	12	81,605,983 (GRCm39)	missense	possibly damaging	0.61
IGL02311:Adam21	APN	12	81,607,666 (GRCm39)	missense	probably benign	0.01
IGL03132:Adam21	APN	12	81,607,148 (GRCm39)	nonsense	probably null
IGL03225:Adam21	APN	12	81,606,043 (GRCm39)	missense	probably benign	0.00
BB009:Adam21	UTSW	12	81,606,938 (GRCm39)	missense	probably damaging	0.98
BB019:Adam21	UTSW	12	81,606,938 (GRCm39)	missense	probably damaging	0.98
R0305:Adam21	UTSW	12	81,607,059 (GRCm39)	missense	possibly damaging	0.96
R1415:Adam21	UTSW	12	81,606,321 (GRCm39)	nonsense	probably null
R1961:Adam21	UTSW	12	81,606,282 (GRCm39)	nonsense	probably null
R1996:Adam21	UTSW	12	81,606,376 (GRCm39)	missense	possibly damaging	0.79
R2159:Adam21	UTSW	12	81,607,241 (GRCm39)	missense	probably benign	0.17
R2215:Adam21	UTSW	12	81,607,064 (GRCm39)	missense	probably damaging	1.00
R3780:Adam21	UTSW	12	81,606,047 (GRCm39)	missense	probably damaging	1.00
R3964:Adam21	UTSW	12	81,607,583 (GRCm39)	missense	possibly damaging	0.46
R4356:Adam21	UTSW	12	81,605,594 (GRCm39)	missense	probably damaging	0.99
R4503:Adam21	UTSW	12	81,607,672 (GRCm39)	missense	probably benign
R4795:Adam21	UTSW	12	81,607,748 (GRCm39)	missense	probably benign	0.06
R4925:Adam21	UTSW	12	81,607,163 (GRCm39)	missense	probably benign
R4932:Adam21	UTSW	12	81,605,692 (GRCm39)	missense	probably benign	0.14
R5110:Adam21	UTSW	12	81,606,989 (GRCm39)	missense	probably benign	0.40
R5831:Adam21	UTSW	12	81,605,875 (GRCm39)	missense	probably benign	0.06
R6289:Adam21	UTSW	12	81,607,480 (GRCm39)	missense	probably damaging	1.00
R6500:Adam21	UTSW	12	81,606,380 (GRCm39)	missense	probably benign	0.01
R7077:Adam21	UTSW	12	81,605,893 (GRCm39)	missense	probably damaging	1.00
R7083:Adam21	UTSW	12	81,607,015 (GRCm39)	missense	possibly damaging	0.81
R7173:Adam21	UTSW	12	81,606,008 (GRCm39)	missense	probably benign	0.24
R7176:Adam21	UTSW	12	81,607,022 (GRCm39)	missense	possibly damaging	0.94
R7232:Adam21	UTSW	12	81,607,330 (GRCm39)	missense	probably damaging	0.99
R7371:Adam21	UTSW	12	81,607,064 (GRCm39)	missense	probably damaging	1.00
R7486:Adam21	UTSW	12	81,605,657 (GRCm39)	missense	probably benign	0.00
R7522:Adam21	UTSW	12	81,605,722 (GRCm39)	missense	possibly damaging	0.78
R7918:Adam21	UTSW	12	81,607,378 (GRCm39)	missense	possibly damaging	0.64
R7932:Adam21	UTSW	12	81,606,938 (GRCm39)	missense	probably damaging	0.98
R8040:Adam21	UTSW	12	81,607,211 (GRCm39)	missense	probably benign	0.04
R8486:Adam21	UTSW	12	81,607,550 (GRCm39)	missense	probably benign	0.08
R8750:Adam21	UTSW	12	81,607,247 (GRCm39)	nonsense	probably null
R8881:Adam21	UTSW	12	81,606,650 (GRCm39)	missense	probably benign	0.02
R9084:Adam21	UTSW	12	81,606,160 (GRCm39)	missense	probably damaging	1.00
R9541:Adam21	UTSW	12	81,607,724 (GRCm39)	missense	probably benign
R9564:Adam21	UTSW	12	81,605,833 (GRCm39)	missense	probably damaging	1.00
Z1088:Adam21	UTSW	12	81,607,460 (GRCm39)	missense	probably damaging	1.00
Z1176:Adam21	UTSW	12	81,606,517 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGATTCCAAATCTCGATGCCAACC -3'
(R):5'- TGTCCATATGCGAGTCAAGAAGCTG -3'

Sequencing Primer
(F):5'- CAAAGTCACATAAGTATCCAGCGG -3'
(R):5'- GGAGTGTTACAAATGAATGGCTTCTC -3'

Posted On

2013-07-11