Mutagenetix > Incidental Mutation

Incidental Mutation 'R0329:Adam28'

25966

Institutional Source

Beutler Lab

Gene Symbol

Adam28

Ensembl Gene

ENSMUSG00000014725

Gene Name

a disintegrin and metallopeptidase domain 28

Synonyms

D430033C21Rik, C130072N01Rik, MDC-L, Dtgn1

MMRRC Submission

038538-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R0329 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68606027-68655842 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68617739 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 651 (K651R)

Ref Sequence

ENSEMBL: ENSMUSP00000153354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022642] [ENSMUST00000111072] [ENSMUST00000224039]

AlphaFold

Q9JLN6

Predicted Effect

probably damaging
Transcript: ENSMUST00000022642
AA Change: K651R

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: K651R

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Pep_M12B_propep	31	158	5.5e-34	PFAM
Pfam:Reprolysin_4	205	387	1.5e-14	PFAM
Pfam:Reprolysin_5	205	388	9.7e-19	PFAM
Pfam:Reprolysin	206	402	5.6e-70	PFAM
Pfam:Reprolysin_2	226	392	1e-16	PFAM
Pfam:Reprolysin_3	230	353	1.2e-21	PFAM
DISIN	419	494	2.1e-36	SMART
ACR	495	623	1.84e-52	SMART
EGF	631	660	3.01e0	SMART
transmembrane domain	667	689	N/A	INTRINSIC
low complexity region	738	753	N/A	INTRINSIC
low complexity region	757	765	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111072
AA Change: K651R

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: K651R

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Pep_M12B_propep	31	158	5.3e-34	PFAM
Pfam:Reprolysin_4	205	387	1.5e-14	PFAM
Pfam:Reprolysin_5	205	388	9.3e-19	PFAM
Pfam:Reprolysin	206	402	5.3e-70	PFAM
Pfam:Reprolysin_2	226	392	9.9e-17	PFAM
Pfam:Reprolysin_3	230	353	1.1e-21	PFAM
DISIN	419	494	2.1e-36	SMART
ACR	495	623	1.84e-52	SMART
EGF	631	660	3.01e0	SMART
transmembrane domain	667	689	N/A	INTRINSIC
low complexity region	738	753	N/A	INTRINSIC
low complexity region	757	765	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000224039
AA Change: K651R

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230006

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 95.0%
20x: 89.0%

Validation Efficiency

99% (107/108)

MGI Phenotype

FUNCTION: This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are typically membrane-anchored, although a form of this protein may be secreted. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a mature protein product. This protein may bind to integrins and regulate lymphocyte migration by enhancing cell adhesion. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	T	17: 56,883,631 (GRCm38)	I400F	probably benign	Het
4833423E24Rik	T	A	2: 85,518,551 (GRCm38)	R72S	probably benign	Het
4931409K22Rik	T	C	5: 24,545,785 (GRCm38)		probably null	Het
Abca13	A	T	11: 9,399,430 (GRCm38)	H3668L	probably damaging	Het
Acvr1c	T	C	2: 58,284,838 (GRCm38)	T313A	probably damaging	Het
Adamtsl3	A	T	7: 82,521,990 (GRCm38)	D417V	probably damaging	Het
Adgrf4	A	T	17: 42,667,313 (GRCm38)	C380S	probably damaging	Het
AI597479	T	G	1: 43,111,117 (GRCm38)	L129R	probably benign	Het
Anpep	C	T	7: 79,838,256 (GRCm38)	E518K	probably benign	Het
Anxa7	A	C	14: 20,469,498 (GRCm38)		probably null	Het
Arhgap22	A	G	14: 33,369,417 (GRCm38)	R650G	possibly damaging	Het
Atp8a1	T	A	5: 67,812,073 (GRCm38)		probably benign	Het
Bcr	C	T	10: 75,181,634 (GRCm38)	T1209I	possibly damaging	Het
Bmpr1a	C	T	14: 34,429,777 (GRCm38)	S185N	probably benign	Het
Calcoco1	A	T	15: 102,715,763 (GRCm38)	M246K	probably benign	Het
Casp12	T	A	9: 5,345,534 (GRCm38)		probably benign	Het
Ccno	T	A	13: 112,989,996 (GRCm38)	L333Q	probably damaging	Het
Cdhr2	T	A	13: 54,734,801 (GRCm38)		probably benign	Het
Cftr	T	A	6: 18,226,097 (GRCm38)	M318K	probably null	Het
Ckmt2	T	A	13: 91,863,203 (GRCm38)	D96V	possibly damaging	Het
Cnnm1	C	T	19: 43,441,910 (GRCm38)	P489L	probably damaging	Het
Cntnap1	A	T	11: 101,188,309 (GRCm38)	D1175V	probably damaging	Het
Cpne5	A	T	17: 29,211,660 (GRCm38)	L92H	probably damaging	Het
Crcp	C	A	5: 130,042,242 (GRCm38)	Q61K	possibly damaging	Het
Dcaf8	T	A	1: 172,187,411 (GRCm38)	D414E	probably benign	Het
Ddx28	T	C	8: 106,010,245 (GRCm38)	T394A	probably benign	Het
Ddx55	T	C	5: 124,559,147 (GRCm38)	F191L	probably benign	Het
Dnaaf1	T	C	8: 119,596,017 (GRCm38)		probably benign	Het
Dnaaf2	C	A	12: 69,197,744 (GRCm38)	R181L	probably damaging	Het
Elac2	A	G	11: 64,979,310 (GRCm38)	Y67C	probably damaging	Het
Elf5	A	G	2: 103,430,420 (GRCm38)		probably benign	Het
Emcn	T	A	3: 137,416,814 (GRCm38)		probably benign	Het
Erbb4	T	C	1: 68,298,280 (GRCm38)		probably benign	Het
Erbin	C	A	13: 103,868,865 (GRCm38)	C114F	probably damaging	Het
Etfdh	T	C	3: 79,609,844 (GRCm38)	I353V	probably benign	Het
Fam172a	T	A	13: 77,761,951 (GRCm38)		probably benign	Het
Fbxl12	C	T	9: 20,638,480 (GRCm38)	G316D	probably damaging	Het
Gbf1	G	A	19: 46,272,270 (GRCm38)		probably null	Het
Gbp2b	T	G	3: 142,608,176 (GRCm38)	S406A	probably benign	Het
Gli3	T	G	13: 15,723,558 (GRCm38)	L741R	probably damaging	Het
Gmip	G	T	8: 69,810,818 (GRCm38)	S70I	probably benign	Het
Gnptab	T	C	10: 88,440,309 (GRCm38)	S1153P	probably damaging	Het
Gp1ba	A	G	11: 70,640,409 (GRCm38)		probably benign	Het
Gramd1a	T	C	7: 31,138,254 (GRCm38)	D360G	possibly damaging	Het
Hectd4	T	C	5: 121,259,864 (GRCm38)	I285T	probably benign	Het
Hrh4	A	G	18: 13,007,245 (GRCm38)		probably benign	Het
Hsp90b1	T	C	10: 86,694,155 (GRCm38)	E226G	probably damaging	Het
Hspa13	A	T	16: 75,765,130 (GRCm38)	D60E	probably damaging	Het
Htt	T	A	5: 34,817,134 (GRCm38)		probably benign	Het
Ispd	C	T	12: 36,381,838 (GRCm38)	A22V	possibly damaging	Het
Kif14	G	C	1: 136,496,026 (GRCm38)		probably benign	Het
Kit	T	G	5: 75,652,829 (GRCm38)	V888G	probably damaging	Het
Lpin3	T	C	2: 160,905,305 (GRCm38)	V827A	probably benign	Het
Lrriq4	T	C	3: 30,655,724 (GRCm38)	S406P	probably benign	Het
Man2c1	T	C	9: 57,141,183 (GRCm38)	V777A	probably benign	Het
Mcm8	A	G	2: 132,819,994 (GRCm38)	K83E	possibly damaging	Het
Mep1a	A	G	17: 43,497,898 (GRCm38)		probably null	Het
Mtor	T	A	4: 148,484,380 (GRCm38)	V1119E	probably benign	Het
Mybpc2	C	T	7: 44,509,029 (GRCm38)	A710T	possibly damaging	Het
Myo9a	C	G	9: 59,923,677 (GRCm38)	T2368S	probably damaging	Het
Nbeal1	A	G	1: 60,268,063 (GRCm38)	Y1684C	probably damaging	Het
Npm3	A	G	19: 45,749,526 (GRCm38)	F11L	probably benign	Het
Nutf2	T	A	8: 105,876,363 (GRCm38)	S37T	probably damaging	Het
Obscn	T	A	11: 59,040,441 (GRCm38)	I5790F	probably damaging	Het
Obscn	A	T	11: 59,052,506 (GRCm38)	D4833E	probably damaging	Het
Olfr1015	T	A	2: 85,785,803 (GRCm38)	C97*	probably null	Het
Olfr123	A	T	17: 37,795,989 (GRCm38)	M182L	probably benign	Het
Olfr39	T	A	9: 20,285,857 (GRCm38)	S61T	possibly damaging	Het
Olfr955	T	C	9: 39,470,556 (GRCm38)	T57A	possibly damaging	Het
Pcdhb1	A	G	18: 37,267,024 (GRCm38)	D676G	possibly damaging	Het
Pcif1	G	T	2: 164,889,444 (GRCm38)	R466L	probably damaging	Het
Pdk1	T	C	2: 71,895,674 (GRCm38)		probably benign	Het
Phxr2	T	C	10: 99,126,117 (GRCm38)		probably benign	Het
Pidd1	A	T	7: 141,439,561 (GRCm38)		probably benign	Het
Plec	A	G	15: 76,191,418 (GRCm38)		probably null	Het
Polr1a	T	A	6: 71,966,416 (GRCm38)	C1212S	possibly damaging	Het
Pot1a	A	G	6: 25,778,831 (GRCm38)		probably benign	Het
Prdm5	T	C	6: 65,862,903 (GRCm38)		probably benign	Het
Primpol	A	T	8: 46,610,461 (GRCm38)	N53K	probably damaging	Het
Pyroxd1	A	G	6: 142,361,976 (GRCm38)	I491V	probably benign	Het
Serpinb3b	G	T	1: 107,159,703 (GRCm38)	N25K	probably damaging	Het
Slc9b1	C	T	3: 135,373,235 (GRCm38)	R218*	probably null	Het
Ssbp2	T	A	13: 91,680,579 (GRCm38)		probably null	Het
Stat4	A	G	1: 52,090,870 (GRCm38)		probably benign	Het
Steap4	T	C	5: 7,975,829 (GRCm38)	V130A	possibly damaging	Het
Stoml2	A	G	4: 43,030,238 (GRCm38)		probably null	Het
Syne2	G	T	12: 75,966,953 (GRCm38)	G2974C	probably benign	Het
Tfdp2	T	G	9: 96,306,893 (GRCm38)	F200V	probably damaging	Het
Tgm4	T	C	9: 123,048,557 (GRCm38)		probably null	Het
Tie1	C	A	4: 118,484,727 (GRCm38)	R175L	probably benign	Het
Tmem145	A	G	7: 25,308,674 (GRCm38)		probably benign	Het
Tsacc	A	G	3: 88,282,862 (GRCm38)	S94P	possibly damaging	Het
Tshz3	T	A	7: 36,770,033 (GRCm38)	D482E	probably benign	Het
Tspan33	T	C	6: 29,711,092 (GRCm38)		probably null	Het
Ugt2b35	A	G	5: 87,003,405 (GRCm38)	K290R	probably null	Het
Unc80	T	C	1: 66,674,087 (GRCm38)	L2788P	possibly damaging	Het
Usp10	T	A	8: 119,936,557 (GRCm38)	C39*	probably null	Het
Utp20	T	A	10: 88,817,979 (GRCm38)	T260S	probably benign	Het
Vmn2r118	G	T	17: 55,610,717 (GRCm38)	T265K	probably damaging	Het
Vmn2r7	C	A	3: 64,691,018 (GRCm38)	C797F	probably damaging	Het
Vmn2r98	A	C	17: 19,066,347 (GRCm38)	H369P	probably benign	Het
Vps39	A	T	2: 120,338,787 (GRCm38)	Y245N	possibly damaging	Het
Wdr27	A	G	17: 14,934,459 (GRCm38)		probably benign	Het
Ythdc2	A	G	18: 44,865,060 (GRCm38)		probably benign	Het
Zcwpw2	C	A	9: 118,014,055 (GRCm38)		noncoding transcript	Het
Zdhhc1	C	A	8: 105,483,543 (GRCm38)	A81S	probably benign	Het
Zfp729a	G	T	13: 67,620,354 (GRCm38)	H585Q	probably damaging	Het

Other mutations in Adam28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Adam28	APN	14	68,622,120 (GRCm38)	missense	possibly damaging	0.47
IGL00654:Adam28	APN	14	68,649,428 (GRCm38)	missense	probably benign	0.00
IGL01021:Adam28	APN	14	68,642,114 (GRCm38)	missense	probably benign
IGL01099:Adam28	APN	14	68,637,329 (GRCm38)	critical splice donor site	probably null
IGL01349:Adam28	APN	14	68,611,006 (GRCm38)	missense	probably benign	0.01
IGL01744:Adam28	APN	14	68,607,507 (GRCm38)	missense	probably benign	0.07
IGL01805:Adam28	APN	14	68,642,091 (GRCm38)	missense	probably benign	0.09
IGL02007:Adam28	APN	14	68,633,219 (GRCm38)	missense	possibly damaging	0.69
IGL02828:Adam28	APN	14	68,646,870 (GRCm38)	missense	possibly damaging	0.46
IGL03180:Adam28	APN	14	68,637,434 (GRCm38)	missense	probably damaging	1.00
IGL03355:Adam28	APN	14	68,634,803 (GRCm38)	splice site	probably benign
IGL02980:Adam28	UTSW	14	68,619,806 (GRCm38)	missense	probably benign	0.01
PIT4453001:Adam28	UTSW	14	68,634,876 (GRCm38)	missense	probably benign	0.00
R0184:Adam28	UTSW	14	68,637,373 (GRCm38)	missense	probably benign	0.33
R0321:Adam28	UTSW	14	68,617,751 (GRCm38)	missense	probably damaging	0.97
R0494:Adam28	UTSW	14	68,630,792 (GRCm38)	splice site	probably benign
R0605:Adam28	UTSW	14	68,606,600 (GRCm38)	unclassified	probably benign
R0732:Adam28	UTSW	14	68,637,347 (GRCm38)	missense	probably benign	0.00
R0959:Adam28	UTSW	14	68,607,938 (GRCm38)	missense	possibly damaging	0.93
R1319:Adam28	UTSW	14	68,609,129 (GRCm38)	missense	probably benign	0.28
R1745:Adam28	UTSW	14	68,633,171 (GRCm38)	missense	probably benign	0.04
R1836:Adam28	UTSW	14	68,649,421 (GRCm38)	missense	possibly damaging	0.85
R1838:Adam28	UTSW	14	68,639,210 (GRCm38)	missense	possibly damaging	0.53
R1839:Adam28	UTSW	14	68,639,210 (GRCm38)	missense	possibly damaging	0.53
R1850:Adam28	UTSW	14	68,639,195 (GRCm38)	missense	probably benign	0.01
R1912:Adam28	UTSW	14	68,644,331 (GRCm38)	missense	probably benign	0.24
R2830:Adam28	UTSW	14	68,626,914 (GRCm38)	missense	possibly damaging	0.65
R2889:Adam28	UTSW	14	68,634,845 (GRCm38)	missense	possibly damaging	0.85
R3977:Adam28	UTSW	14	68,610,994 (GRCm38)	missense	probably benign	0.20
R3978:Adam28	UTSW	14	68,610,994 (GRCm38)	missense	probably benign	0.20
R3979:Adam28	UTSW	14	68,610,994 (GRCm38)	missense	probably benign	0.20
R4282:Adam28	UTSW	14	68,647,706 (GRCm38)	missense	possibly damaging	0.92
R4416:Adam28	UTSW	14	68,622,082 (GRCm38)	critical splice donor site	probably null
R4690:Adam28	UTSW	14	68,642,048 (GRCm38)	missense	probably benign	0.01
R4724:Adam28	UTSW	14	68,626,877 (GRCm38)	missense	probably damaging	0.99
R4768:Adam28	UTSW	14	68,634,815 (GRCm38)	missense	possibly damaging	0.46
R4883:Adam28	UTSW	14	68,638,103 (GRCm38)	missense	probably damaging	0.99
R5054:Adam28	UTSW	14	68,617,715 (GRCm38)	missense	probably damaging	1.00
R5710:Adam28	UTSW	14	68,609,908 (GRCm38)	missense	probably damaging	0.96
R5835:Adam28	UTSW	14	68,655,681 (GRCm38)	missense	possibly damaging	0.96
R6002:Adam28	UTSW	14	68,642,062 (GRCm38)	missense	probably benign
R6054:Adam28	UTSW	14	68,642,152 (GRCm38)	missense	probably benign	0.01
R6349:Adam28	UTSW	14	68,633,172 (GRCm38)	missense	probably benign	0.29
R6449:Adam28	UTSW	14	68,630,667 (GRCm38)	missense	probably benign	0.31
R6455:Adam28	UTSW	14	68,633,208 (GRCm38)	missense	probably damaging	1.00
R6831:Adam28	UTSW	14	68,618,127 (GRCm38)	missense	probably benign	0.04
R6833:Adam28	UTSW	14	68,618,127 (GRCm38)	missense	probably benign	0.04
R7212:Adam28	UTSW	14	68,637,397 (GRCm38)	missense	probably damaging	0.99
R7411:Adam28	UTSW	14	68,626,947 (GRCm38)	missense	probably damaging	1.00
R7422:Adam28	UTSW	14	68,626,877 (GRCm38)	missense	probably damaging	1.00
R7516:Adam28	UTSW	14	68,630,676 (GRCm38)	missense	probably damaging	1.00
R7649:Adam28	UTSW	14	68,634,833 (GRCm38)	missense	probably benign	0.12
R7765:Adam28	UTSW	14	68,609,106 (GRCm38)	critical splice donor site	probably null
R8469:Adam28	UTSW	14	68,606,580 (GRCm38)	missense	probably benign	0.16
R8520:Adam28	UTSW	14	68,642,083 (GRCm38)	missense	probably damaging	0.98
R9026:Adam28	UTSW	14	68,609,144 (GRCm38)	missense	probably benign	0.16
R9163:Adam28	UTSW	14	68,629,082 (GRCm38)	missense	probably damaging	0.98
R9264:Adam28	UTSW	14	68,607,465 (GRCm38)	missense	probably benign
R9304:Adam28	UTSW	14	68,637,497 (GRCm38)	missense	probably damaging	1.00
R9357:Adam28	UTSW	14	68,642,030 (GRCm38)	missense	probably benign	0.36
R9441:Adam28	UTSW	14	68,637,494 (GRCm38)	missense	probably damaging	0.96
Z1177:Adam28	UTSW	14	68,626,784 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGGTTGGATAGCACATGTTCTGTA -3'
(R):5'- ACTTCATCTTGGCAGAGGCAAGC -3'

Sequencing Primer
(F):5'- actgtgaccccaaataagcc -3'
(R):5'- GCCAACAAAGCAGGGGTC -3'

Posted On

2013-04-16