Mutagenetix > Incidental Mutation

Incidental Mutation 'R9508:Adam24'

717937

Institutional Source

Beutler Lab

Gene Symbol

Adam24

Ensembl Gene

ENSMUSG00000046723

Gene Name

ADAM metallopeptidase domain 24

Synonyms

Dtgn5

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R9508 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41128118-41135238 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41132941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 136 (I136M)

Ref Sequence

ENSEMBL: ENSMUSP00000050727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051614]

AlphaFold

Q9R160

Predicted Effect

probably benign
Transcript: ENSMUST00000051614
AA Change: I136M

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000050727
Gene: ENSMUSG00000046723
AA Change: I136M

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
Pfam:Pep_M12B_propep	39	160	3.3e-14	PFAM
Pfam:Reprolysin_2	193	389	6.3e-13	PFAM
Pfam:Reprolysin	208	398	7.8e-43	PFAM
Pfam:Reprolysin_5	209	382	3e-17	PFAM
Pfam:Reprolysin_4	209	392	4.9e-13	PFAM
Pfam:Reprolysin_3	232	353	9.9e-16	PFAM
DISIN	415	491	7.13e-39	SMART
ACR	492	628	7.74e-69	SMART
transmembrane domain	698	720	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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. This gene is expressed in a regulated fashion during spermatogenesis. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional metalloprotease enzyme. Male mice lacking the encoded protein exhibit reduced fertility due to the higher incidence of polyspermic embryos. This gene is located adjacent to other ADAM genes on chromosome 8. [provided by RefSeq, May 2016]
PHENOTYPE: Males homozygous for a targeted null mutation are subfertile and produce an increased number of polyspermic embryos at the pronuclear stage. Female homozygotes show normal fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	G	A	13: 119,617,484 (GRCm39)	V536I		Het
Adam18	A	G	8: 25,143,778 (GRCm39)	I187T	possibly damaging	Het
B3galt2	A	T	1: 143,522,280 (GRCm39)	I139F	possibly damaging	Het
Cacna1i	C	T	15: 80,279,372 (GRCm39)	P2038S	probably benign	Het
Cbll1	A	T	12: 31,544,685 (GRCm39)	I26N	probably damaging	Het
Cldn1	A	T	16: 26,179,619 (GRCm39)	Y149*	probably null	Het
Cnot11	T	C	1: 39,581,575 (GRCm39)	V372A	probably damaging	Het
Cnot2	A	G	10: 116,329,616 (GRCm39)	L458P	probably damaging	Het
Cnot4	T	C	6: 35,045,554 (GRCm39)	E219G		Het
Col8a1	T	G	16: 57,448,947 (GRCm39)	I188L	unknown	Het
Daam2	T	C	17: 49,765,618 (GRCm39)	K1095R	probably damaging	Het
Dnah9	T	C	11: 65,725,089 (GRCm39)	T4355A	probably damaging	Het
Dsg4	A	G	18: 20,604,070 (GRCm39)	I846V	probably damaging	Het
Ehd4	C	T	2: 119,921,966 (GRCm39)	G430E	probably damaging	Het
Fanci	T	C	7: 79,083,033 (GRCm39)	Y670H	possibly damaging	Het
Galnt10	T	A	11: 57,673,040 (GRCm39)	N465K	possibly damaging	Het
Glipr1l1	A	G	10: 111,912,015 (GRCm39)	N183S	probably damaging	Het
Gnl1	T	C	17: 36,299,625 (GRCm39)	Y599H	possibly damaging	Het
Gpr26	T	C	7: 131,585,830 (GRCm39)	S267P	probably benign	Het
Grk2	A	T	19: 4,341,636 (GRCm39)	N179K	probably damaging	Het
Igf2bp2	T	A	16: 21,898,845 (GRCm39)	M255L	probably benign	Het
Ighv2-6	T	C	12: 113,680,430 (GRCm39)	I70M	probably benign	Het
Igkv4-74	T	A	6: 69,161,942 (GRCm39)	N76Y	probably damaging	Het
Il11ra1	T	C	4: 41,767,527 (GRCm39)	V293A	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kank2	A	T	9: 21,687,076 (GRCm39)	L582Q	probably damaging	Het
Kmt2b	T	C	7: 30,269,259 (GRCm39)	T2554A	probably damaging	Het
Mecom	T	A	3: 30,010,621 (GRCm39)	Y619F	probably benign	Het
Mknk1	A	G	4: 115,732,579 (GRCm39)	N269S	probably benign	Het
Mpp2	T	A	11: 101,951,692 (GRCm39)	E435D	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Or2f2	A	G	6: 42,767,928 (GRCm39)	*318W	probably null	Het
Or5g9	A	G	2: 85,552,165 (GRCm39)	R139G	possibly damaging	Het
Or7a41	A	T	10: 78,870,933 (GRCm39)	Q101L	probably damaging	Het
P3h3	A	G	6: 124,830,012 (GRCm39)		probably null	Het
Paqr5	C	T	9: 61,880,079 (GRCm39)	V72M	probably benign	Het
Pilrb2	G	A	5: 137,869,261 (GRCm39)	T113I	probably damaging	Het
Pitpnm3	T	C	11: 72,003,121 (GRCm39)	E63G	probably damaging	Het
Ppp4r4	G	A	12: 103,542,561 (GRCm39)	V108M	possibly damaging	Het
Ptprf	G	T	4: 118,126,776 (GRCm39)	S46*	probably null	Het
Rab2a	T	C	4: 8,582,447 (GRCm39)	L143P		Het
Rassf7	C	T	7: 140,796,924 (GRCm39)	R46*	probably null	Het
Sec23a	T	C	12: 59,036,185 (GRCm39)	D393G	probably benign	Het
Semp2l2b	A	G	10: 21,942,816 (GRCm39)	V388A	probably damaging	Het
Serpinb9f	T	A	13: 33,518,515 (GRCm39)	F338L	probably benign	Het
Spg7	T	C	8: 123,800,623 (GRCm39)	V66A	probably damaging	Het
Sult2a4	C	T	7: 13,723,437 (GRCm39)	R27H	probably benign	Het
Sumo2	A	C	11: 115,414,538 (GRCm39)	Y95D	possibly damaging	Het
Tbx18	G	A	9: 87,587,926 (GRCm39)	S397F	probably damaging	Het
Ticam2	G	C	18: 46,693,748 (GRCm39)	P113R	probably damaging	Het
Timeless	A	G	10: 128,076,096 (GRCm39)	S63G	probably benign	Het
Tinag	C	T	9: 76,912,981 (GRCm39)	C276Y	probably damaging	Het
Tmem143	A	T	7: 45,565,630 (GRCm39)	K364*	probably null	Het
Tmem160	A	G	7: 16,186,840 (GRCm39)		probably benign	Het
Tmod4	G	C	3: 95,034,713 (GRCm39)	E154Q	probably benign	Het
Trpv1	G	T	11: 73,145,090 (GRCm39)	K725N		Het
Ttn	G	T	2: 76,715,978 (GRCm39)	A7767D	unknown	Het
Tubd1	T	A	11: 86,448,640 (GRCm39)	Y318N	probably damaging	Het
Ufd1	T	A	16: 18,643,802 (GRCm39)	M187K	possibly damaging	Het
Unc5c	A	G	3: 141,494,736 (GRCm39)	N424D	possibly damaging	Het
Usp19	C	T	9: 108,371,608 (GRCm39)	S329L	probably damaging	Het
Vps16	T	A	2: 130,284,361 (GRCm39)	I704N	possibly damaging	Het
Vwf	A	T	6: 125,532,471 (GRCm39)	I72F		Het
Ypel4	T	C	2: 84,567,304 (GRCm39)	S46P	probably damaging	Het
Zcchc8	A	C	5: 123,842,584 (GRCm39)		probably null	Het

Other mutations in Adam24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02479:Adam24	APN	8	41,132,571 (GRCm39)	missense	probably benign	0.41
IGL02517:Adam24	APN	8	41,133,218 (GRCm39)	missense	probably damaging	1.00
R0195:Adam24	UTSW	8	41,134,805 (GRCm39)	missense	probably benign	0.00
R1067:Adam24	UTSW	8	41,133,793 (GRCm39)	nonsense	probably null
R1180:Adam24	UTSW	8	41,134,467 (GRCm39)	missense	probably damaging	1.00
R1438:Adam24	UTSW	8	41,134,431 (GRCm39)	missense	probably benign	0.19
R1741:Adam24	UTSW	8	41,132,642 (GRCm39)	missense	probably benign	0.00
R1779:Adam24	UTSW	8	41,134,004 (GRCm39)	missense	possibly damaging	0.83
R1940:Adam24	UTSW	8	41,134,400 (GRCm39)	nonsense	probably null
R2228:Adam24	UTSW	8	41,133,404 (GRCm39)	missense	probably benign	0.00
R2229:Adam24	UTSW	8	41,133,404 (GRCm39)	missense	probably benign	0.00
R2265:Adam24	UTSW	8	41,133,110 (GRCm39)	missense	possibly damaging	0.95
R2359:Adam24	UTSW	8	41,133,984 (GRCm39)	missense	possibly damaging	0.91
R3551:Adam24	UTSW	8	41,132,632 (GRCm39)	missense	probably benign	0.03
R3837:Adam24	UTSW	8	41,133,584 (GRCm39)	missense	probably benign
R4834:Adam24	UTSW	8	41,132,738 (GRCm39)	missense	probably damaging	1.00
R5121:Adam24	UTSW	8	41,132,550 (GRCm39)	missense	probably damaging	1.00
R5410:Adam24	UTSW	8	41,134,103 (GRCm39)	missense	probably benign	0.01
R5787:Adam24	UTSW	8	41,133,941 (GRCm39)	missense	possibly damaging	0.87
R5900:Adam24	UTSW	8	41,134,071 (GRCm39)	missense	probably benign	0.00
R6600:Adam24	UTSW	8	41,133,587 (GRCm39)	missense	probably damaging	1.00
R6633:Adam24	UTSW	8	41,133,526 (GRCm39)	missense	probably benign	0.12
R6672:Adam24	UTSW	8	41,134,572 (GRCm39)	missense	probably benign	0.01
R6904:Adam24	UTSW	8	41,134,542 (GRCm39)	missense	probably damaging	1.00
R7178:Adam24	UTSW	8	41,133,039 (GRCm39)	nonsense	probably null
R7542:Adam24	UTSW	8	41,133,848 (GRCm39)	missense	possibly damaging	0.46
R7578:Adam24	UTSW	8	41,133,294 (GRCm39)	missense	probably benign	0.01
R7708:Adam24	UTSW	8	41,133,558 (GRCm39)	missense	probably damaging	1.00
R8739:Adam24	UTSW	8	41,133,480 (GRCm39)	missense	possibly damaging	0.68
R8823:Adam24	UTSW	8	41,133,228 (GRCm39)	missense	probably benign	0.01
R9282:Adam24	UTSW	8	41,133,674 (GRCm39)	missense	probably damaging	1.00
R9434:Adam24	UTSW	8	41,133,284 (GRCm39)	missense	probably benign	0.04
R9591:Adam24	UTSW	8	41,132,698 (GRCm39)	missense	probably benign	0.00
X0010:Adam24	UTSW	8	41,133,054 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCTGTACTTTGGAGGCCAGAG -3'
(R):5'- GCTTTGCATTCTAGTGGACTTACC -3'

Sequencing Primer
(F):5'- CTTTGGAGGCCAGAGACACATTATC -3'
(R):5'- TGGACTTACCATTTTCTTGAAGTC -3'

Posted On

2022-07-18