Mutagenetix > Incidental Mutation

Incidental Mutation 'R1853:Adam32'

208336

Institutional Source

Beutler Lab

Gene Symbol

Adam32

Ensembl Gene

ENSMUSG00000037437

Gene Name

a disintegrin and metallopeptidase domain 32

Synonyms

MMRRC Submission

039877-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1853 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25326156-25438820 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25388642 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 354 (Y354C)

Ref Sequence

ENSEMBL: ENSMUSP00000113627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119720] [ENSMUST00000121438]

AlphaFold

Q8K410

Predicted Effect

probably benign
Transcript: ENSMUST00000119720
AA Change: Y354C

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000113076
Gene: ENSMUSG00000037437
AA Change: Y354C

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Pep_M12B_propep	32	145	4.5e-32	PFAM
Pfam:Reprolysin	187	384	4.1e-66	PFAM
Pfam:Reprolysin_3	211	318	6.2e-7	PFAM
DISIN	400	481	2.69e-16	SMART
ACR	482	622	6.83e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121438
AA Change: Y354C

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000113627
Gene: ENSMUSG00000037437
AA Change: Y354C

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Pep_M12B_propep	24	145	8.4e-26	PFAM
Pfam:Reprolysin	187	384	1.3e-68	PFAM
DISIN	400	481	2.69e-16	SMART
ACR	482	622	6.83e-38	SMART
EGF	631	660	1.73e0	SMART
transmembrane domain	689	711	N/A	INTRINSIC
low complexity region	719	754	N/A	INTRINSIC

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.2%

Validation Efficiency

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 metalloprotease, disintegrin and epidermal growth factor-like domains. This gene was found to be expressed predominantly in the pachytene spermatocytes, where the processed protein is localized to the sperm surface. This gene is located in a cluster of other disintegrin and metallopeptidase family genes on chromosome 8. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadvl	T	C	11: 69,901,696 (GRCm39)	K554E	probably damaging	Het
Acap2	C	T	16: 30,936,122 (GRCm39)	E322K	probably damaging	Het
Agl	A	T	3: 116,572,971 (GRCm39)	Y789*	probably null	Het
Aida	A	G	1: 183,087,380 (GRCm39)	T68A	probably benign	Het
Aldh3b3	T	A	19: 4,015,822 (GRCm39)	L264Q	probably damaging	Het
Anks6	T	C	4: 47,049,387 (GRCm39)	T173A	probably benign	Het
Ankzf1	A	G	1: 75,174,772 (GRCm39)		probably null	Het
Apob	A	T	12: 8,060,928 (GRCm39)	K3137*	probably null	Het
Arhgef16	C	T	4: 154,375,563 (GRCm39)	V144I	probably benign	Het
Arhgef2	A	T	3: 88,540,222 (GRCm39)	T107S	possibly damaging	Het
Ark2c	T	A	18: 77,550,671 (GRCm39)	S279C	possibly damaging	Het
Atad2	G	A	15: 57,960,685 (GRCm39)	P971L	possibly damaging	Het
Atp6ap1l	T	C	13: 91,031,707 (GRCm39)	E325G	probably damaging	Het
BC035947	T	C	1: 78,475,653 (GRCm39)	N293S	possibly damaging	Het
Bhmt	C	T	13: 93,761,843 (GRCm39)	V147M	probably damaging	Het
Ccdc112	A	T	18: 46,418,767 (GRCm39)	H447Q	probably benign	Het
Cd274	T	A	19: 29,357,882 (GRCm39)	N191K	probably damaging	Het
Ckmt1	C	T	2: 121,191,131 (GRCm39)	T181I	probably damaging	Het
Cnih3	C	A	1: 181,282,186 (GRCm39)	S140*	probably null	Het
Col28a1	T	G	6: 8,014,574 (GRCm39)	I944L	probably benign	Het
Cttnbp2	T	C	6: 18,408,601 (GRCm39)	T1007A	probably benign	Het
Cux2	G	T	5: 122,007,184 (GRCm39)	P826T	possibly damaging	Het
Cyren	A	G	6: 34,852,494 (GRCm39)	V67A	probably damaging	Het
Dap3	A	T	3: 88,838,233 (GRCm39)	V86E	probably damaging	Het
Ddah1	A	G	3: 145,597,304 (GRCm39)	I180M	probably benign	Het
Ddt	T	C	10: 75,609,138 (GRCm39)	E7G	possibly damaging	Het
Dhx57	A	T	17: 80,582,308 (GRCm39)	Y432*	probably null	Het
Dpp9	T	C	17: 56,509,885 (GRCm39)	I314V	probably benign	Het
Enpp2	C	T	15: 54,709,219 (GRCm39)	E803K	probably damaging	Het
Ercc6	T	A	14: 32,298,773 (GRCm39)	I1387N	possibly damaging	Het
Fancg	T	C	4: 43,009,727 (GRCm39)	E57G	probably benign	Het
Fcgbpl1	C	T	7: 27,854,971 (GRCm39)	Q1866*	probably null	Het
Fkbp5	A	T	17: 28,648,281 (GRCm39)	C103S	possibly damaging	Het
Gm14403	C	A	2: 177,200,932 (GRCm39)	H293N	probably damaging	Het
Gm4353	G	A	7: 115,682,804 (GRCm39)	P259L	probably benign	Het
Gm4787	T	A	12: 81,425,108 (GRCm39)	H350L	probably damaging	Het
Hibch	T	C	1: 52,940,494 (GRCm39)		probably null	Het
Impg2	T	C	16: 56,080,640 (GRCm39)	S815P	probably damaging	Het
Ipo11	A	T	13: 106,997,395 (GRCm39)	I688K	probably benign	Het
Kcnd3	A	T	3: 105,367,068 (GRCm39)	T313S	probably damaging	Het
Kctd14	A	T	7: 97,102,631 (GRCm39)	S38C	possibly damaging	Het
Kdm3b	G	T	18: 34,966,446 (GRCm39)	R1660L	probably damaging	Het
Kdr	C	T	5: 76,113,565 (GRCm39)	G768S	possibly damaging	Het
Klhl2	G	A	8: 65,275,658 (GRCm39)	H82Y	probably benign	Het
Lama3	A	T	18: 12,646,762 (GRCm39)	T1759S	possibly damaging	Het
Lamb1	T	G	12: 31,368,271 (GRCm39)	C1134G	probably damaging	Het
Macf1	T	C	4: 123,406,513 (GRCm39)		probably null	Het
Mlph	C	T	1: 90,873,389 (GRCm39)	Q567*	probably null	Het
Mocos	A	C	18: 24,829,026 (GRCm39)	E777A	probably damaging	Het
Neil1	T	A	9: 57,051,999 (GRCm39)	Q214L	probably damaging	Het
Nes	A	G	3: 87,883,114 (GRCm39)	T458A	possibly damaging	Het
Nlgn1	A	T	3: 26,187,671 (GRCm39)	N71K	possibly damaging	Het
Nr4a1	T	C	15: 101,169,645 (GRCm39)	I305T	probably benign	Het
Nup58	T	C	14: 60,481,996 (GRCm39)	T123A	possibly damaging	Het
Oas1c	A	T	5: 120,946,060 (GRCm39)	V146E	probably damaging	Het
Oit3	C	T	10: 59,277,444 (GRCm39)		probably null	Het
Or12k8	A	T	2: 36,975,232 (GRCm39)	F176Y	probably damaging	Het
Or4k15c	A	G	14: 50,321,577 (GRCm39)	L187P	probably damaging	Het
Osbp	T	C	19: 11,951,255 (GRCm39)	S267P	possibly damaging	Het
Pclo	T	A	5: 14,726,698 (GRCm39)		probably benign	Het
Pde9a	C	T	17: 31,674,094 (GRCm39)	P60S	probably damaging	Het
Pdia3	T	C	2: 121,262,144 (GRCm39)	I205T	probably benign	Het
Pdia4	A	T	6: 47,790,161 (GRCm39)	D26E	unknown	Het
Pds5a	A	G	5: 65,781,372 (GRCm39)	V1036A	possibly damaging	Het
Pitx3	C	T	19: 46,125,912 (GRCm39)	G4R	probably benign	Het
Pnn	T	A	12: 59,118,399 (GRCm39)	N327K	probably damaging	Het
Pole	T	G	5: 110,454,719 (GRCm39)	I984R	possibly damaging	Het
Psme2	T	A	14: 55,825,936 (GRCm39)	I124F	probably damaging	Het
Pstpip2	T	A	18: 77,959,499 (GRCm39)	L198Q	probably damaging	Het
Siglece	A	G	7: 43,309,360 (GRCm39)	F66S	probably benign	Het
Slc1a6	T	A	10: 78,648,758 (GRCm39)	V493E	probably damaging	Het
Snd1	T	A	6: 28,545,563 (GRCm39)	I373N	probably damaging	Het
Srrm2	A	G	17: 24,039,499 (GRCm39)	T2144A	probably damaging	Het
Sst	A	G	16: 23,709,403 (GRCm39)	L31P	probably damaging	Het
Stab1	C	T	14: 30,862,420 (GRCm39)	V2305M	probably damaging	Het
Stard9	T	C	2: 120,519,232 (GRCm39)	I545T	probably damaging	Het
Tcaim	T	C	9: 122,655,271 (GRCm39)	W248R	probably damaging	Het
Tepsin	A	C	11: 119,989,462 (GRCm39)	F13C	probably damaging	Het
Terf1	T	A	1: 15,889,162 (GRCm39)	L197*	probably null	Het
Tiam2	C	T	17: 3,465,410 (GRCm39)	R380C	probably damaging	Het
Tmem63b	G	A	17: 45,972,223 (GRCm39)	H745Y	possibly damaging	Het
Trim40	A	G	17: 37,199,970 (GRCm39)	L36P	probably damaging	Het
Trim72	A	G	7: 127,608,254 (GRCm39)	I251V	probably benign	Het
Trio	T	C	15: 27,756,622 (GRCm39)	Y914C	probably damaging	Het
Vmn2r113	G	A	17: 23,164,501 (GRCm39)	V135I	probably benign	Het
Vmn2r117	T	A	17: 23,696,429 (GRCm39)	H326L	probably damaging	Het
Vmn2r28	A	T	7: 5,484,246 (GRCm39)	C651*	probably null	Het
Xpnpep1	T	C	19: 52,994,641 (GRCm39)	E329G	probably benign	Het
Xpo4	G	A	14: 57,823,364 (GRCm39)	T1042M	possibly damaging	Het
Ypel1	A	C	16: 16,925,087 (GRCm39)	D28E	probably benign	Het
Zdbf2	GAAAAA	GAAAAAA	1: 63,344,701 (GRCm39)		probably null	Het
Zfp51	A	T	17: 21,684,585 (GRCm39)	H400L	probably damaging	Het
Zfp518b	A	T	5: 38,830,750 (GRCm39)	F418L	probably benign	Het
Zfp54	T	A	17: 21,654,404 (GRCm39)	Y299*	probably null	Het
Zfp672	T	C	11: 58,207,790 (GRCm39)	H177R	probably benign	Het
Zfp692	C	A	11: 58,200,805 (GRCm39)	P229T	possibly damaging	Het
Zswim4	A	T	8: 84,950,829 (GRCm39)	C533S	probably damaging	Het

Other mutations in Adam32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00775:Adam32	APN	8	25,411,370 (GRCm39)	missense	probably damaging	1.00
IGL00793:Adam32	APN	8	25,327,846 (GRCm39)	splice site	probably benign
IGL01317:Adam32	APN	8	25,362,597 (GRCm39)	missense	probably damaging	1.00
IGL01475:Adam32	APN	8	25,362,664 (GRCm39)	missense	probably damaging	1.00
IGL01501:Adam32	APN	8	25,404,369 (GRCm39)	missense	probably damaging	1.00
IGL01659:Adam32	APN	8	25,360,790 (GRCm39)	splice site	probably benign
IGL01994:Adam32	APN	8	25,392,812 (GRCm39)	splice site	probably benign
IGL02137:Adam32	APN	8	25,362,610 (GRCm39)	missense	probably damaging	1.00
IGL02393:Adam32	APN	8	25,410,069 (GRCm39)	missense	probably damaging	1.00
IGL02516:Adam32	APN	8	25,388,612 (GRCm39)	missense	probably damaging	1.00
IGL02892:Adam32	APN	8	25,368,727 (GRCm39)	intron	probably benign
IGL02929:Adam32	APN	8	25,362,659 (GRCm39)	missense	possibly damaging	0.81
IGL03273:Adam32	APN	8	25,411,356 (GRCm39)	missense	probably damaging	1.00
PIT4515001:Adam32	UTSW	8	25,404,342 (GRCm39)	missense	possibly damaging	0.88
R0088:Adam32	UTSW	8	25,404,083 (GRCm39)	missense	probably damaging	1.00
R0098:Adam32	UTSW	8	25,404,405 (GRCm39)	missense	possibly damaging	0.79
R0098:Adam32	UTSW	8	25,404,405 (GRCm39)	missense	possibly damaging	0.79
R0189:Adam32	UTSW	8	25,412,353 (GRCm39)	critical splice acceptor site	probably null
R1740:Adam32	UTSW	8	25,411,314 (GRCm39)	missense	probably damaging	1.00
R2090:Adam32	UTSW	8	25,391,456 (GRCm39)	critical splice donor site	probably null
R2906:Adam32	UTSW	8	25,353,520 (GRCm39)	missense	probably damaging	1.00
R2907:Adam32	UTSW	8	25,353,520 (GRCm39)	missense	probably damaging	1.00
R4304:Adam32	UTSW	8	25,391,545 (GRCm39)	missense	probably damaging	1.00
R4612:Adam32	UTSW	8	25,362,752 (GRCm39)	missense	probably damaging	1.00
R4673:Adam32	UTSW	8	25,374,471 (GRCm39)	missense	probably damaging	1.00
R4786:Adam32	UTSW	8	25,353,509 (GRCm39)	missense	probably damaging	1.00
R5292:Adam32	UTSW	8	25,354,467 (GRCm39)	missense	possibly damaging	0.85
R5398:Adam32	UTSW	8	25,362,595 (GRCm39)	missense	possibly damaging	0.95
R5524:Adam32	UTSW	8	25,412,328 (GRCm39)	missense	probably damaging	0.99
R5939:Adam32	UTSW	8	25,404,138 (GRCm39)	missense	probably damaging	1.00
R6350:Adam32	UTSW	8	25,353,445 (GRCm39)	missense	possibly damaging	0.86
R6766:Adam32	UTSW	8	25,362,646 (GRCm39)	missense	probably damaging	0.96
R6893:Adam32	UTSW	8	25,368,770 (GRCm39)	missense	probably damaging	1.00
R7095:Adam32	UTSW	8	25,404,086 (GRCm39)	missense	probably damaging	1.00
R7241:Adam32	UTSW	8	25,388,510 (GRCm39)	missense	probably benign	0.00
R7457:Adam32	UTSW	8	25,374,635 (GRCm39)	missense	probably damaging	0.98
R7864:Adam32	UTSW	8	25,412,292 (GRCm39)	missense	probably benign	0.11
R8083:Adam32	UTSW	8	25,362,752 (GRCm39)	missense	probably damaging	1.00
R8248:Adam32	UTSW	8	25,391,486 (GRCm39)	missense	possibly damaging	0.93
R8376:Adam32	UTSW	8	25,409,936 (GRCm39)	missense	possibly damaging	0.81
R8681:Adam32	UTSW	8	25,327,811 (GRCm39)	missense	unknown
R9154:Adam32	UTSW	8	25,438,769 (GRCm39)	small deletion	probably benign
R9391:Adam32	UTSW	8	25,374,472 (GRCm39)	missense	probably damaging	0.99
Z1176:Adam32	UTSW	8	25,438,766 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATACAAGTTTCCCGAGATGGCAC -3'
(R):5'- CCAATGGGTTCTGCTCTTGC -3'

Sequencing Primer
(F):5'- GGCACACTTACTGCTTCAGAG -3'
(R):5'- GCTCTTGCTTTCATTTGATTTGTAC -3'

Posted On

2014-06-23