Mutagenetix > Incidental Mutation

Incidental Mutation 'R6469:Smap2'

520252

Institutional Source

Beutler Lab

Gene Symbol

Smap2

Ensembl Gene

ENSMUSG00000032870

Gene Name

small ArfGAP 2

Synonyms

Smap1l, Smap2, 1810031K02Rik

MMRRC Submission

044602-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6469 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

120825514-120874444 bp(-) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

GACTCTAC to GAC at 120830282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000035800 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043200]

AlphaFold

Q7TN29

Predicted Effect

probably benign
Transcript: ENSMUST00000043200

SMART Domains

Protein: ENSMUSP00000035800
Gene: ENSMUSG00000032870

Domain	Start	End	E-Value	Type
ArfGap	13	131	2.06e-44	SMART
low complexity region	216	224	N/A	INTRINSIC
low complexity region	274	293	N/A	INTRINSIC
low complexity region	309	320	N/A	INTRINSIC
low complexity region	331	342	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151615

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199525

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.3%

Validation Efficiency

100% (43/43)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility associated with globozoospermia, asthenozoospermia and abnormal acrosome formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	G	3: 137,772,736 (GRCm39)	S642A	probably damaging	Het
Aadacl2	A	T	3: 59,932,210 (GRCm39)	T242S	probably benign	Het
Adprh	T	C	16: 38,270,671 (GRCm39)	M45V	probably benign	Het
Akr1c13	T	C	13: 4,246,511 (GRCm39)		probably null	Het
Ap3d1	A	C	10: 80,547,992 (GRCm39)	V900G	probably benign	Het
Bak1	G	A	17: 27,240,293 (GRCm39)	R125C	probably damaging	Het
Bmpr1b	T	C	3: 141,562,222 (GRCm39)	T322A	possibly damaging	Het
Camsap3	T	A	8: 3,653,941 (GRCm39)	L521Q	possibly damaging	Het
Col6a6	A	T	9: 105,575,890 (GRCm39)	F2157I	probably damaging	Het
Dcun1d4	G	A	5: 73,691,957 (GRCm39)	M155I	probably damaging	Het
Diaph3	T	C	14: 86,893,974 (GRCm39)	S12G	possibly damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fgb	A	T	3: 82,953,449 (GRCm39)	L107*	probably null	Het
Ganab	T	C	19: 8,879,996 (GRCm39)		probably null	Het
Gba1	C	T	3: 89,111,388 (GRCm39)	P51L	probably benign	Het
Glb1l2	T	C	9: 26,707,828 (GRCm39)	D60G	probably benign	Het
Idh3b	AG	AGCACCACAACTG	2: 130,121,593 (GRCm39)		probably null	Het
Itih2	A	G	2: 10,128,224 (GRCm39)	V159A	possibly damaging	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Lrch1	C	T	14: 75,054,525 (GRCm39)	R323Q	probably damaging	Het
Lrrc30	T	C	17: 67,938,860 (GRCm39)	N240S	probably benign	Het
Mrgpra9	T	C	7: 46,884,854 (GRCm39)	Y271C	probably benign	Het
Ncor1	T	C	11: 62,234,128 (GRCm39)	H682R	probably damaging	Het
Or14j4	A	T	17: 37,921,204 (GRCm39)	V146E	probably damaging	Het
Pax9	C	A	12: 56,743,648 (GRCm39)	F98L	probably damaging	Het
Phlpp1	G	A	1: 106,214,833 (GRCm39)	R585Q	probably damaging	Het
Prkdc	A	G	16: 15,612,939 (GRCm39)	T3166A	probably benign	Het
Prr11	T	A	11: 86,988,003 (GRCm39)	Q300L	possibly damaging	Het
Rad50	T	A	11: 53,575,062 (GRCm39)	E620D	probably benign	Het
Rpl3	A	T	15: 79,967,546 (GRCm39)		probably null	Het
Sacs	G	T	14: 61,428,697 (GRCm39)	G252V	probably damaging	Het
Serpina3i	T	A	12: 104,232,776 (GRCm39)	V227E	probably damaging	Het
Snx19	T	C	9: 30,339,039 (GRCm39)	V59A	possibly damaging	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Tcstv2c	T	A	13: 120,616,349 (GRCm39)	W63R	probably damaging	Het
Tsc1	G	A	2: 28,561,898 (GRCm39)		probably null	Het
Vmn2r61	C	T	7: 41,915,283 (GRCm39)	Q77*	probably null	Het
Wdr72	A	G	9: 74,120,643 (GRCm39)	H954R	probably benign	Het
Zbtb21	T	C	16: 97,757,972 (GRCm39)	M20V	probably benign	Het
Zkscan16	A	T	4: 58,956,483 (GRCm39)	D255V	probably damaging	Het

Other mutations in Smap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01486:Smap2	APN	4	120,830,395 (GRCm39)	missense	probably damaging	0.99
IGL01727:Smap2	APN	4	120,839,405 (GRCm39)	splice site	probably benign
IGL02236:Smap2	APN	4	120,832,587 (GRCm39)	missense	probably benign	0.00
twizzler	UTSW	4	120,842,508 (GRCm39)	missense	probably damaging	1.00
R0564:Smap2	UTSW	4	120,834,174 (GRCm39)	missense	probably benign	0.03
R4567:Smap2	UTSW	4	120,842,508 (GRCm39)	missense	probably damaging	1.00
R5132:Smap2	UTSW	4	120,830,370 (GRCm39)	missense	possibly damaging	0.79
R5198:Smap2	UTSW	4	120,873,984 (GRCm39)	missense	possibly damaging	0.89
R6470:Smap2	UTSW	4	120,830,282 (GRCm39)	critical splice donor site	probably benign
R6472:Smap2	UTSW	4	120,830,282 (GRCm39)	critical splice donor site	probably benign
R6504:Smap2	UTSW	4	120,830,282 (GRCm39)	critical splice donor site	probably benign
R6516:Smap2	UTSW	4	120,840,303 (GRCm39)	critical splice donor site	probably null
R7013:Smap2	UTSW	4	120,839,365 (GRCm39)	missense	probably damaging	1.00
R7270:Smap2	UTSW	4	120,829,264 (GRCm39)	missense	probably benign	0.00
R7634:Smap2	UTSW	4	120,873,996 (GRCm39)	missense	probably benign
R9674:Smap2	UTSW	4	120,826,745 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GTGCTAACAGCCTTCCCATC -3'
(R):5'- CTGTAGGTTCCATGCCAACTG -3'

Sequencing Primer
(F):5'- GCACAAGCTTACTTATGTGAGAG -3'
(R):5'- GCCAACTGCAGGGAGTG -3'

Posted On

2018-06-06