Mutagenetix > Incidental Mutation

Incidental Mutation 'R0564:Smap2'

46055

Institutional Source

Beutler Lab

Gene Symbol

Smap2

Ensembl Gene

ENSMUSG00000032870

Gene Name

small ArfGAP 2

Synonyms

Smap2, 1810031K02Rik, Smap1l

MMRRC Submission

038755-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0564 (G1)

Quality Score

167

Status

Validated

Chromosome

Chromosomal Location

120968317-121017247 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120976977 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 155 (P155S)

Ref Sequence

ENSEMBL: ENSMUSP00000035800 (fasta)

Gene Model

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

AlphaFold

Q7TN29

Predicted Effect

probably benign
Transcript: ENSMUST00000043200
AA Change: P155S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000035800
Gene: ENSMUSG00000032870
AA Change: P155S

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

Meta Mutation Damage Score

0.0996

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

98% (52/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl5	A	G	10: 80,344,847	V127A	probably damaging	Het
Alox12	T	A	11: 70,252,836	D202V	probably damaging	Het
Ankib1	A	G	5: 3,729,655	Y405H	probably damaging	Het
Apbb2	A	T	5: 66,452,250	M18K	probably damaging	Het
Atad2	C	A	15: 58,125,833		probably benign	Het
BC117090	A	T	16: 36,322,984	Y34*	probably null	Het
Birc6	T	A	17: 74,625,243		probably benign	Het
Ccdc126	T	C	6: 49,334,142	M28T	possibly damaging	Het
Cdc16	A	T	8: 13,781,618	D617V	probably damaging	Het
Cep135	G	A	5: 76,615,710	E516K	probably damaging	Het
Cep135	G	T	5: 76,638,949	M1081I	probably benign	Het
Col6a3	A	C	1: 90,807,734	V731G	probably damaging	Het
Cwc27	C	A	13: 104,661,357	E365*	probably null	Het
D230025D16Rik	T	A	8: 105,239,971		probably benign	Het
Dip2b	C	A	15: 100,162,719	Y258*	probably null	Het
Dnah17	A	G	11: 118,082,981	V1900A	probably damaging	Het
Dpysl2	A	T	14: 66,805,446		probably benign	Het
Dync2h1	A	T	9: 7,139,432	L1401Q	probably damaging	Het
Esf1	A	T	2: 140,158,586	Y427N	possibly damaging	Het
Fbln1	T	A	15: 85,227,107	V154D	probably benign	Het
Frem2	A	G	3: 53,656,109	F326L	probably damaging	Het
Gm4922	T	A	10: 18,784,065	N303I	possibly damaging	Het
Hist1h1t	G	T	13: 23,696,324	K153N	possibly damaging	Het
Iigp1	G	A	18: 60,390,451	V214M	probably damaging	Het
Luzp2	A	G	7: 54,835,962	K2E	probably damaging	Het
Mcc	A	G	18: 44,468,507	L410P	probably damaging	Het
Mfn2	A	G	4: 147,883,255	F452S	probably damaging	Het
Mib2	C	T	4: 155,659,460	G42S	probably damaging	Het
Micu2	A	G	14: 57,919,374	F335L	possibly damaging	Het
Mpp3	T	G	11: 102,005,347	K450T	possibly damaging	Het
Mtmr4	T	A	11: 87,598,888	V79E	probably damaging	Het
Nlrp4b	A	G	7: 10,714,658	I263V	probably benign	Het
Olfr551	T	C	7: 102,588,531	I71V	probably benign	Het
Olfr809	T	G	10: 129,776,136	V74G	probably damaging	Het
Pdk1	G	A	2: 71,880,039	W113*	probably null	Het
Phxr4	A	T	9: 13,431,697		probably benign	Het
Rad51ap2	T	A	12: 11,457,896	H606Q	probably benign	Het
Ralgapa1	A	T	12: 55,782,885	I187K	possibly damaging	Het
Rps27	A	G	3: 90,212,923		probably benign	Het
Sema3e	T	A	5: 14,236,085		probably null	Het
Sh2d3c	G	A	2: 32,753,052	C749Y	probably damaging	Het
Siah2	T	C	3: 58,676,235	D210G	probably benign	Het
Snrk	C	T	9: 122,166,544	T463M	possibly damaging	Het
Tm9sf3	A	G	19: 41,245,525		probably benign	Het
Tmem132d	C	T	5: 127,784,778	E760K	probably damaging	Het
Tmem184c	A	T	8: 77,606,160		probably null	Het
Tmem235	A	T	11: 117,860,848	I33F	possibly damaging	Het
Tmem267	A	T	13: 119,492,639		probably null	Het
Top1	G	A	2: 160,714,265	R548Q	probably damaging	Het
Trio	T	C	15: 27,805,822	N527D	probably damaging	Het
Upf3a	A	G	8: 13,795,656	K252E	probably benign	Het

Other mutations in Smap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01486:Smap2	APN	4	120973198	missense	probably damaging	0.99
IGL01727:Smap2	APN	4	120982208	splice site	probably benign
IGL02236:Smap2	APN	4	120975390	missense	probably benign	0.00
twizzler	UTSW	4	120985311	missense	probably damaging	1.00
R4567:Smap2	UTSW	4	120985311	missense	probably damaging	1.00
R5132:Smap2	UTSW	4	120973173	missense	possibly damaging	0.79
R5198:Smap2	UTSW	4	121016787	missense	possibly damaging	0.89
R6469:Smap2	UTSW	4	120973085	critical splice donor site	probably benign
R6470:Smap2	UTSW	4	120973085	critical splice donor site	probably benign
R6472:Smap2	UTSW	4	120973085	critical splice donor site	probably benign
R6504:Smap2	UTSW	4	120973085	critical splice donor site	probably benign
R6516:Smap2	UTSW	4	120983106	critical splice donor site	probably null
R7013:Smap2	UTSW	4	120982168	missense	probably damaging	1.00
R7270:Smap2	UTSW	4	120972067	missense	probably benign	0.00
R7634:Smap2	UTSW	4	121016799	missense	probably benign
R9674:Smap2	UTSW	4	120969548	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TCCCAGTGCAACAGTGCAGTATG -3'
(R):5'- TGTGGGGTCTGCCTCATTCAGTAAG -3'

Sequencing Primer
(F):5'- GCAGTATGGTTTCAAACCCG -3'
(R):5'- GGTTGCATTTCTGCATCAGAATC -3'

Posted On

2013-06-11