Mutagenetix > Incidental Mutations

Incidental Mutation 'R0959:Adam28'

81796

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

039088-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R0959 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68606027-68655842 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 68607938 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 761 (P761L)

Ref Sequence

ENSEMBL: ENSMUSP00000153354 (fasta)

Gene Model

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

AlphaFold

Q9JLN6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022642
AA Change: P761L

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: P761L

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

possibly damaging
Transcript: ENSMUST00000111072
AA Change: P761L

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: P761L

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

possibly damaging
Transcript: ENSMUST00000224039
AA Change: P761L

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230006

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 95.8%
20x: 89.6%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	A	G	7: 140,294,791	E394G	probably damaging	Het
Actl11	T	C	9: 107,931,235	V919A	probably damaging	Het
Aplf	G	A	6: 87,646,083	P338L	probably benign	Het
Arl5b	T	A	2: 15,073,131	I89N	probably damaging	Het
Asap2	T	C	12: 21,247,319	V596A	probably damaging	Het
Baz1b	T	G	5: 135,244,222	F1400C	probably damaging	Het
Ccdc149	A	T	5: 52,385,155	L365Q	probably damaging	Het
Ccdc60	A	G	5: 116,180,811	S149P	probably damaging	Het
Ces1b	A	G	8: 93,068,147	C275R	probably damaging	Het
Creb3	T	C	4: 43,563,509	L163P	probably damaging	Het
Dhx37	T	G	5: 125,423,432	N570T	probably benign	Het
Epc1	T	C	18: 6,453,657	N223D	probably damaging	Het
Gbp5	C	T	3: 142,503,124	H143Y	possibly damaging	Het
Gfod1	A	T	13: 43,303,429	D23E	probably benign	Het
Gm12169	A	T	11: 46,536,420	R187*	probably null	Het
Gm7361	A	T	5: 26,262,053	E223D	possibly damaging	Het
Izumo1	A	G	7: 45,624,991	K161E	probably damaging	Het
Kcnh2	C	T	5: 24,322,672	R894H	probably damaging	Het
Lrp1b	T	C	2: 41,268,354	N1617S	possibly damaging	Het
Med13l	A	T	5: 118,754,285	E1924D	possibly damaging	Het
Mroh2a	GCCC	GC	1: 88,232,257		probably null	Het
Mtg2	T	G	2: 180,083,428	S145A	probably benign	Het
Mug2	G	A	6: 122,085,495	S1442N	probably benign	Het
Myo1b	A	T	1: 51,797,087	I315N	probably damaging	Het
Naip2	G	A	13: 100,154,878	T1184M	probably benign	Het
Naip2	T	A	13: 100,154,911	H1173L	probably benign	Het
Nsrp1	G	A	11: 77,046,459	R304*	probably null	Het
Olfr444	G	T	6: 42,955,752	V85L	probably benign	Het
Oxtr	C	T	6: 112,477,177	R42Q	probably benign	Het
Parp4	T	C	14: 56,648,119	F1552L	unknown	Het
Pigw	G	A	11: 84,878,207	H99Y	probably benign	Het
Ppp6r2	G	A	15: 89,274,176	M444I	possibly damaging	Het
Rchy1	A	G	5: 91,957,617	F82L	probably damaging	Het
Reln	A	C	5: 22,227,628	F125V	probably damaging	Het
Riok1	G	A	13: 38,057,173	E435K	probably damaging	Het
Rnf213	A	G	11: 119,452,581	R3590G	probably damaging	Het
Scrib	G	C	15: 76,051,461	P1249A	probably benign	Het
Shc4	C	T	2: 125,678,687		probably null	Het
Slc12a2	T	A	18: 57,904,378	I520N	probably damaging	Het
Slc26a5	A	G	5: 21,816,961	I484T	probably benign	Het
Slc39a11	G	T	11: 113,464,073	T110K	probably benign	Het
Snd1	T	A	6: 28,884,971	S774T	probably benign	Het
Spata31d1c	C	T	13: 65,036,315	P557L	probably damaging	Het
Svs1	T	A	6: 48,988,632	C525S	possibly damaging	Het
Tada1	A	G	1: 166,388,629	D133G	probably benign	Het
Tg	A	T	15: 66,708,010	T1555S	probably damaging	Het
Thra	A	G	11: 98,753,629	E15G	possibly damaging	Het
Ttn	T	A	2: 76,795,096	I15128F	probably damaging	Het
Ube2r2	A	G	4: 41,174,066	Y68C	probably damaging	Het
Uncx	A	T	5: 139,546,687	N169I	probably damaging	Het
Vmn2r100	A	G	17: 19,523,524	Y483C	possibly damaging	Het
Xkr4	T	C	1: 3,216,674	D431G	probably damaging	Het
Xylb	C	A	9: 119,380,025	A311E	possibly damaging	Het
Zbtb39	C	G	10: 127,742,306	Q250E	probably benign	Het
Zbtb39	C	A	10: 127,743,062	H502N	probably damaging	Het
Zfp82	A	G	7: 30,056,451	L402P	probably damaging	Het
Zpbp2	G	A	11: 98,557,625	R256Q	probably benign	Het

Other mutations in Adam28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Adam28	APN	14	68622120	missense	possibly damaging	0.47
IGL00654:Adam28	APN	14	68649428	missense	probably benign	0.00
IGL01021:Adam28	APN	14	68642114	missense	probably benign
IGL01099:Adam28	APN	14	68637329	critical splice donor site	probably null
IGL01349:Adam28	APN	14	68611006	missense	probably benign	0.01
IGL01744:Adam28	APN	14	68607507	missense	probably benign	0.07
IGL01805:Adam28	APN	14	68642091	missense	probably benign	0.09
IGL02007:Adam28	APN	14	68633219	missense	possibly damaging	0.69
IGL02828:Adam28	APN	14	68646870	missense	possibly damaging	0.46
IGL03180:Adam28	APN	14	68637434	missense	probably damaging	1.00
IGL03355:Adam28	APN	14	68634803	splice site	probably benign
IGL02980:Adam28	UTSW	14	68619806	missense	probably benign	0.01
PIT4453001:Adam28	UTSW	14	68634876	missense	probably benign	0.00
R0184:Adam28	UTSW	14	68637373	missense	probably benign	0.33
R0321:Adam28	UTSW	14	68617751	missense	probably damaging	0.97
R0329:Adam28	UTSW	14	68617739	missense	probably damaging	0.96
R0494:Adam28	UTSW	14	68630792	splice site	probably benign
R0605:Adam28	UTSW	14	68606600	unclassified	probably benign
R0732:Adam28	UTSW	14	68637347	missense	probably benign	0.00
R1319:Adam28	UTSW	14	68609129	missense	probably benign	0.28
R1745:Adam28	UTSW	14	68633171	missense	probably benign	0.04
R1836:Adam28	UTSW	14	68649421	missense	possibly damaging	0.85
R1838:Adam28	UTSW	14	68639210	missense	possibly damaging	0.53
R1839:Adam28	UTSW	14	68639210	missense	possibly damaging	0.53
R1850:Adam28	UTSW	14	68639195	missense	probably benign	0.01
R1912:Adam28	UTSW	14	68644331	missense	probably benign	0.24
R2830:Adam28	UTSW	14	68626914	missense	possibly damaging	0.65
R2889:Adam28	UTSW	14	68634845	missense	possibly damaging	0.85
R3977:Adam28	UTSW	14	68610994	missense	probably benign	0.20
R3978:Adam28	UTSW	14	68610994	missense	probably benign	0.20
R3979:Adam28	UTSW	14	68610994	missense	probably benign	0.20
R4282:Adam28	UTSW	14	68647706	missense	possibly damaging	0.92
R4416:Adam28	UTSW	14	68622082	critical splice donor site	probably null
R4690:Adam28	UTSW	14	68642048	missense	probably benign	0.01
R4724:Adam28	UTSW	14	68626877	missense	probably damaging	0.99
R4768:Adam28	UTSW	14	68634815	missense	possibly damaging	0.46
R4883:Adam28	UTSW	14	68638103	missense	probably damaging	0.99
R5054:Adam28	UTSW	14	68617715	missense	probably damaging	1.00
R5710:Adam28	UTSW	14	68609908	missense	probably damaging	0.96
R5835:Adam28	UTSW	14	68655681	missense	possibly damaging	0.96
R6002:Adam28	UTSW	14	68642062	missense	probably benign
R6054:Adam28	UTSW	14	68642152	missense	probably benign	0.01
R6349:Adam28	UTSW	14	68633172	missense	probably benign	0.29
R6449:Adam28	UTSW	14	68630667	missense	probably benign	0.31
R6455:Adam28	UTSW	14	68633208	missense	probably damaging	1.00
R6831:Adam28	UTSW	14	68618127	missense	probably benign	0.04
R6833:Adam28	UTSW	14	68618127	missense	probably benign	0.04
R7212:Adam28	UTSW	14	68637397	missense	probably damaging	0.99
R7411:Adam28	UTSW	14	68626947	missense	probably damaging	1.00
R7422:Adam28	UTSW	14	68626877	missense	probably damaging	1.00
R7516:Adam28	UTSW	14	68630676	missense	probably damaging	1.00
R7649:Adam28	UTSW	14	68634833	missense	probably benign	0.12
R7765:Adam28	UTSW	14	68609106	critical splice donor site	probably null
R8469:Adam28	UTSW	14	68606580	missense	probably benign	0.16
R8520:Adam28	UTSW	14	68642083	missense	probably damaging	0.98
R9026:Adam28	UTSW	14	68609144	missense	probably benign	0.16
R9163:Adam28	UTSW	14	68629082	missense	probably damaging	0.98
R9264:Adam28	UTSW	14	68607465	missense	probably benign
R9304:Adam28	UTSW	14	68637497	missense	probably damaging	1.00
R9357:Adam28	UTSW	14	68642030	missense	probably benign	0.36
Z1177:Adam28	UTSW	14	68626784	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTCAGGTACACGCGGCCTA -3'
(R):5'- GGCTCAGAACTAACTGAAAGGGTCAAAT -3'

Sequencing Primer
(F):5'- GCGGCCTATTTGCTGACTAAAAG -3'
(R):5'- CTAACTGAAAGGGTCAAATTCGTG -3'

Posted On

2013-11-08