Mutagenetix > Incidental Mutation

Incidental Mutation 'R7422:Adam28'

575777

Institutional Source

Beutler Lab

Gene Symbol

Adam28

Ensembl Gene

ENSMUSG00000014725

Gene Name

a disintegrin and metallopeptidase domain 28

Synonyms

MDC-L, D430033C21Rik, Dtgn1, C130072N01Rik

MMRRC Submission

045500-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

R7422 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68843476-68893291 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 68864326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 492 (R492S)

Ref Sequence

ENSEMBL: ENSMUSP00000106701 (fasta)

Gene Model

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

AlphaFold

Q9JLN6

Predicted Effect

probably damaging
Transcript: ENSMUST00000022642
AA Change: R492S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: R492S

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: R492S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: R492S

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: R492S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.9%

Validation Efficiency

97% (98/101)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,771,885 (GRCm39)	C456S	probably damaging	Het
4930524J08Rik	T	C	5: 100,127,068 (GRCm39)		probably benign	Het
Adarb2	G	A	13: 8,807,313 (GRCm39)	A705T	possibly damaging	Het
Adprhl1	T	C	8: 13,272,873 (GRCm39)	D1295G	probably benign	Het
Aldh3b3	A	G	19: 4,016,476 (GRCm39)	I365V	probably benign	Het
Aldh8a1	T	C	10: 21,264,996 (GRCm39)	F208L	possibly damaging	Het
Ap3b1	G	A	13: 94,664,673 (GRCm39)	V871I	unknown	Het
Apol7e	A	T	15: 77,598,552 (GRCm39)	R6*	probably null	Het
Arfgap3	T	C	15: 83,191,150 (GRCm39)	E456G	probably damaging	Het
Arhgef1	T	C	7: 24,615,461 (GRCm39)	L285P	probably benign	Het
Arhgef7	T	A	8: 11,850,861 (GRCm39)	C315S	probably benign	Het
Atp9a	A	T	2: 168,490,513 (GRCm39)	L829Q	probably damaging	Het
Babam2	T	A	5: 31,888,393 (GRCm39)		probably null	Het
Bptf	C	T	11: 106,951,384 (GRCm39)	R2185H	probably damaging	Het
Brd9	A	C	13: 74,102,697 (GRCm39)	M473L	probably benign	Het
C7	T	C	15: 5,041,538 (GRCm39)	H456R	probably benign	Het
Cabp7	C	A	11: 4,688,856 (GRCm39)	A205S	probably damaging	Het
Catsperb	A	G	12: 101,554,293 (GRCm39)	I662M	probably damaging	Het
Ccl21a	T	C	4: 42,773,906 (GRCm39)	M5V	probably benign	Het
Cdyl	G	T	13: 36,042,177 (GRCm39)	R405L	possibly damaging	Het
Cep89	T	C	7: 35,127,672 (GRCm39)	L538P	probably damaging	Het
Cercam	A	G	2: 29,762,892 (GRCm39)	M209V	possibly damaging	Het
Chfr	T	A	5: 110,310,571 (GRCm39)		probably null	Het
Cntnap5c	T	A	17: 58,717,226 (GRCm39)	Y1269*	probably null	Het
Col6a2	G	T	10: 76,439,170 (GRCm39)	C833*	probably null	Het
Cpeb3	T	A	19: 37,151,900 (GRCm39)	I159F	probably benign	Het
Cplx2	G	A	13: 54,526,663 (GRCm39)	E24K	possibly damaging	Het
Ctsb	A	G	14: 63,379,752 (GRCm39)	T332A	probably benign	Het
Cyp2j12	T	A	4: 96,029,222 (GRCm39)	T20S	probably benign	Het
Dcst2	T	A	3: 89,273,993 (GRCm39)	H181Q	probably damaging	Het
Dnm1l	T	C	16: 16,136,338 (GRCm39)	I411V	probably benign	Het
Dock5	T	A	14: 68,046,479 (GRCm39)	I768F	probably benign	Het
Ecel1	A	G	1: 87,077,334 (GRCm39)	Y625H	probably damaging	Het
Efl1	T	G	7: 82,330,587 (GRCm39)	S253R	probably damaging	Het
Elmod1	T	A	9: 53,820,127 (GRCm39)	D287V	probably damaging	Het
Fam171a2	T	C	11: 102,329,491 (GRCm39)	S423G	probably benign	Het
Fbxo8	A	T	8: 57,022,317 (GRCm39)		probably null	Het
Flnc	G	T	6: 29,455,470 (GRCm39)	G2040W	probably damaging	Het
Fras1	C	T	5: 96,821,458 (GRCm39)	A1405V	probably benign	Het
Frem3	A	C	8: 81,342,392 (GRCm39)	I1562L	probably benign	Het
Fxr1	C	T	3: 34,103,369 (GRCm39)	A233V	probably damaging	Het
H1f9	A	G	11: 94,859,184 (GRCm39)	R160G	possibly damaging	Het
Helb	A	G	10: 119,944,799 (GRCm39)	F246L	probably damaging	Het
Hoxb6	G	T	11: 96,183,510 (GRCm39)		probably benign	Het
Hspa2	A	G	12: 76,452,884 (GRCm39)	E526G	probably damaging	Het
Hyal5	A	T	6: 24,875,983 (GRCm39)		probably benign	Het
Ints6	A	T	14: 62,942,224 (GRCm39)	V503E	probably benign	Het
Ints9	C	T	14: 65,269,747 (GRCm39)	T479I	possibly damaging	Het
Jag1	C	T	2: 136,926,975 (GRCm39)	R928H	probably benign	Het
Lman2	A	T	13: 55,499,338 (GRCm39)	I179N	probably damaging	Het
Lta	T	C	17: 35,422,805 (GRCm39)	S173G	probably benign	Het
Mki67	G	A	7: 135,300,099 (GRCm39)	P1645L	probably damaging	Het
Mrc2	A	T	11: 105,183,609 (GRCm39)		probably benign	Het
Muc4	T	A	16: 32,754,689 (GRCm38)	M1521K	probably benign	Het
Mucl3	T	A	17: 35,949,312 (GRCm39)	T96S	probably benign	Het
Mylk3	T	G	8: 86,081,873 (GRCm39)	D438A	probably benign	Het
Myo7a	T	A	7: 97,700,833 (GRCm39)		probably null	Het
Nsmce4a	G	T	7: 130,135,547 (GRCm39)	Q342K	probably benign	Het
Or10ac1	A	G	6: 42,515,053 (GRCm39)	I301T	possibly damaging	Het
Or4c124	T	A	2: 89,156,423 (GRCm39)	I34F	probably benign	Het
Or5p60	A	G	7: 107,724,068 (GRCm39)	L134P	probably damaging	Het
Or6c65	A	T	10: 129,604,136 (GRCm39)	Y257F	possibly damaging	Het
Osbpl6	T	A	2: 76,423,730 (GRCm39)	F864L	probably damaging	Het
Pla2g4a	A	G	1: 149,808,438 (GRCm39)	S2P	probably benign	Het
Plce1	T	C	19: 38,640,329 (GRCm39)	L525P	probably damaging	Het
Por	A	T	5: 135,763,773 (GRCm39)	M667L	probably benign	Het
Psma4	T	C	9: 54,862,166 (GRCm39)	Y97H	probably benign	Het
Qtrt1	A	T	9: 21,323,753 (GRCm39)	H126L	probably benign	Het
Rab3a	A	T	8: 71,209,170 (GRCm39)	Y102F	possibly damaging	Het
Rnf212	T	A	5: 108,879,555 (GRCm39)	H87L	probably benign	Het
Rnf216	A	G	5: 143,076,591 (GRCm39)	S98P	probably benign	Het
Ryr1	G	T	7: 28,785,295 (GRCm39)	R1806S	probably benign	Het
Scgb1b3	A	T	7: 31,075,262 (GRCm39)	L37F	probably benign	Het
Sds	T	C	5: 120,617,254 (GRCm39)	S37P	probably damaging	Het
Senp6	A	G	9: 80,021,159 (GRCm39)	R280G	probably damaging	Het
She	T	A	3: 89,761,864 (GRCm39)	I441K	possibly damaging	Het
Slc6a20b	A	G	9: 123,436,682 (GRCm39)	S244P	possibly damaging	Het
Slc9a3	A	T	13: 74,299,004 (GRCm39)	Y141F	probably damaging	Het
Slco6c1	A	T	1: 97,009,207 (GRCm39)	H426Q	probably benign	Het
Smc2	C	A	4: 52,440,301 (GRCm39)	Q16K	probably benign	Het
Sphkap	A	C	1: 83,241,547 (GRCm39)	V1535G	probably benign	Het
Stard9	C	A	2: 120,532,633 (GRCm39)	N2963K	probably benign	Het
Sycp2	C	T	2: 178,035,944 (GRCm39)	A248T	probably damaging	Het
Taar8a	T	C	10: 23,952,762 (GRCm39)	L122P	probably damaging	Het
Tab1	T	A	15: 80,044,445 (GRCm39)	V491E	probably benign	Het
Tanc1	T	C	2: 59,636,688 (GRCm39)	M857T	probably benign	Het
Tcirg1	C	A	19: 3,949,008 (GRCm39)	R427L	possibly damaging	Het
Tmem109	A	C	19: 10,849,124 (GRCm39)	*244G	probably null	Het
Tox2	A	G	2: 163,163,435 (GRCm39)	Y136C		Het
Tubb1	T	C	2: 174,298,825 (GRCm39)	V169A	possibly damaging	Het
Ubr3	T	C	2: 69,783,886 (GRCm39)		probably null	Het
Vmn1r225	T	A	17: 20,723,059 (GRCm39)	F167I	probably benign	Het
Vmn2r65	A	C	7: 84,595,569 (GRCm39)	W372G	probably damaging	Het
Vps13a	A	T	19: 16,727,537 (GRCm39)	D188E	probably damaging	Het
Vsnl1	G	T	12: 11,376,439 (GRCm39)	Q149K	probably benign	Het
Wdr35	A	G	12: 9,054,105 (GRCm39)	N466S	probably benign	Het
Ywhae	T	A	11: 75,650,169 (GRCm39)	S210R	probably damaging	Het
Zfp28	T	A	7: 6,397,748 (GRCm39)	S728T	probably damaging	Het
Zfpm1	A	G	8: 123,063,698 (GRCm39)	D919G	unknown	Het

Other mutations in Adam28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Adam28	APN	14	68,859,569 (GRCm39)	missense	possibly damaging	0.47
IGL00654:Adam28	APN	14	68,886,877 (GRCm39)	missense	probably benign	0.00
IGL01021:Adam28	APN	14	68,879,563 (GRCm39)	missense	probably benign
IGL01099:Adam28	APN	14	68,874,778 (GRCm39)	critical splice donor site	probably null
IGL01349:Adam28	APN	14	68,848,455 (GRCm39)	missense	probably benign	0.01
IGL01744:Adam28	APN	14	68,844,956 (GRCm39)	missense	probably benign	0.07
IGL01805:Adam28	APN	14	68,879,540 (GRCm39)	missense	probably benign	0.09
IGL02007:Adam28	APN	14	68,870,668 (GRCm39)	missense	possibly damaging	0.69
IGL02828:Adam28	APN	14	68,884,319 (GRCm39)	missense	possibly damaging	0.46
IGL03180:Adam28	APN	14	68,874,883 (GRCm39)	missense	probably damaging	1.00
IGL03355:Adam28	APN	14	68,872,252 (GRCm39)	splice site	probably benign
IGL02980:Adam28	UTSW	14	68,857,255 (GRCm39)	missense	probably benign	0.01
PIT4453001:Adam28	UTSW	14	68,872,325 (GRCm39)	missense	probably benign	0.00
R0184:Adam28	UTSW	14	68,874,822 (GRCm39)	missense	probably benign	0.33
R0321:Adam28	UTSW	14	68,855,200 (GRCm39)	missense	probably damaging	0.97
R0329:Adam28	UTSW	14	68,855,188 (GRCm39)	missense	probably damaging	0.96
R0494:Adam28	UTSW	14	68,868,241 (GRCm39)	splice site	probably benign
R0605:Adam28	UTSW	14	68,844,049 (GRCm39)	unclassified	probably benign
R0732:Adam28	UTSW	14	68,874,796 (GRCm39)	missense	probably benign	0.00
R0959:Adam28	UTSW	14	68,845,387 (GRCm39)	missense	possibly damaging	0.93
R1319:Adam28	UTSW	14	68,846,578 (GRCm39)	missense	probably benign	0.28
R1745:Adam28	UTSW	14	68,870,620 (GRCm39)	missense	probably benign	0.04
R1836:Adam28	UTSW	14	68,886,870 (GRCm39)	missense	possibly damaging	0.85
R1838:Adam28	UTSW	14	68,876,659 (GRCm39)	missense	possibly damaging	0.53
R1839:Adam28	UTSW	14	68,876,659 (GRCm39)	missense	possibly damaging	0.53
R1850:Adam28	UTSW	14	68,876,644 (GRCm39)	missense	probably benign	0.01
R1912:Adam28	UTSW	14	68,881,780 (GRCm39)	missense	probably benign	0.24
R2830:Adam28	UTSW	14	68,864,363 (GRCm39)	missense	possibly damaging	0.65
R2889:Adam28	UTSW	14	68,872,294 (GRCm39)	missense	possibly damaging	0.85
R3977:Adam28	UTSW	14	68,848,443 (GRCm39)	missense	probably benign	0.20
R3978:Adam28	UTSW	14	68,848,443 (GRCm39)	missense	probably benign	0.20
R3979:Adam28	UTSW	14	68,848,443 (GRCm39)	missense	probably benign	0.20
R4282:Adam28	UTSW	14	68,885,155 (GRCm39)	missense	possibly damaging	0.92
R4416:Adam28	UTSW	14	68,859,531 (GRCm39)	critical splice donor site	probably null
R4690:Adam28	UTSW	14	68,879,497 (GRCm39)	missense	probably benign	0.01
R4724:Adam28	UTSW	14	68,864,326 (GRCm39)	missense	probably damaging	0.99
R4768:Adam28	UTSW	14	68,872,264 (GRCm39)	missense	possibly damaging	0.46
R4883:Adam28	UTSW	14	68,875,552 (GRCm39)	missense	probably damaging	0.99
R5054:Adam28	UTSW	14	68,855,164 (GRCm39)	missense	probably damaging	1.00
R5710:Adam28	UTSW	14	68,847,357 (GRCm39)	missense	probably damaging	0.96
R5835:Adam28	UTSW	14	68,893,130 (GRCm39)	missense	possibly damaging	0.96
R6002:Adam28	UTSW	14	68,879,511 (GRCm39)	missense	probably benign
R6054:Adam28	UTSW	14	68,879,601 (GRCm39)	missense	probably benign	0.01
R6349:Adam28	UTSW	14	68,870,621 (GRCm39)	missense	probably benign	0.29
R6449:Adam28	UTSW	14	68,868,116 (GRCm39)	missense	probably benign	0.31
R6455:Adam28	UTSW	14	68,870,657 (GRCm39)	missense	probably damaging	1.00
R6831:Adam28	UTSW	14	68,855,576 (GRCm39)	missense	probably benign	0.04
R6833:Adam28	UTSW	14	68,855,576 (GRCm39)	missense	probably benign	0.04
R7212:Adam28	UTSW	14	68,874,846 (GRCm39)	missense	probably damaging	0.99
R7411:Adam28	UTSW	14	68,864,396 (GRCm39)	missense	probably damaging	1.00
R7516:Adam28	UTSW	14	68,868,125 (GRCm39)	missense	probably damaging	1.00
R7649:Adam28	UTSW	14	68,872,282 (GRCm39)	missense	probably benign	0.12
R7765:Adam28	UTSW	14	68,846,555 (GRCm39)	critical splice donor site	probably null
R8469:Adam28	UTSW	14	68,844,029 (GRCm39)	missense	probably benign	0.16
R8520:Adam28	UTSW	14	68,879,532 (GRCm39)	missense	probably damaging	0.98
R9026:Adam28	UTSW	14	68,846,593 (GRCm39)	missense	probably benign	0.16
R9163:Adam28	UTSW	14	68,866,531 (GRCm39)	missense	probably damaging	0.98
R9264:Adam28	UTSW	14	68,844,914 (GRCm39)	missense	probably benign
R9304:Adam28	UTSW	14	68,874,946 (GRCm39)	missense	probably damaging	1.00
R9357:Adam28	UTSW	14	68,879,479 (GRCm39)	missense	probably benign	0.36
R9441:Adam28	UTSW	14	68,874,943 (GRCm39)	missense	probably damaging	0.96
Z1177:Adam28	UTSW	14	68,864,233 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCTGTTACTAGGCTGATGTAAAC -3'
(R):5'- ATGGCCCCGAAGACTAAACG -3'

Sequencing Primer
(F):5'- AAAGCCCATCTTGAGTCTGG -3'
(R):5'- GCCCCGAAGACTAAACGGTTTG -3'

Posted On

2019-10-07