Mutagenetix > Incidental Mutation

Incidental Mutation 'R9336:Synpo'

707202

Institutional Source

Beutler Lab

Gene Symbol

Synpo

Ensembl Gene

ENSMUSG00000043079

Gene Name

synaptopodin

Synonyms

9030217H17Rik, 9330140I15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.250) question?

Stock #

R9336 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60727045-60793214 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 60735472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 825 (R825S)

Ref Sequence

ENSEMBL: ENSMUSP00000115355 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097566] [ENSMUST00000115318] [ENSMUST00000123288] [ENSMUST00000130044] [ENSMUST00000130360] [ENSMUST00000143275] [ENSMUST00000155195]

AlphaFold

Q8CC35

Predicted Effect

probably damaging
Transcript: ENSMUST00000097566
AA Change: R586S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095174
Gene: ENSMUSG00000043079
AA Change: R586S

Domain	Start	End	E-Value	Type
low complexity region	78	90	N/A	INTRINSIC
low complexity region	328	341	N/A	INTRINSIC
low complexity region	428	446	N/A	INTRINSIC
low complexity region	571	600	N/A	INTRINSIC
low complexity region	607	628	N/A	INTRINSIC
low complexity region	714	741	N/A	INTRINSIC
low complexity region	769	782	N/A	INTRINSIC
low complexity region	786	811	N/A	INTRINSIC
low complexity region	830	846	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115318
AA Change: R586S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110973
Gene: ENSMUSG00000043079
AA Change: R586S

Domain	Start	End	E-Value	Type
low complexity region	78	90	N/A	INTRINSIC
low complexity region	328	341	N/A	INTRINSIC
low complexity region	428	446	N/A	INTRINSIC
low complexity region	571	600	N/A	INTRINSIC
low complexity region	607	628	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123288

Predicted Effect

probably damaging
Transcript: ENSMUST00000130044
AA Change: R586S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121756
Gene: ENSMUSG00000043079
AA Change: R586S

Domain	Start	End	E-Value	Type
low complexity region	78	90	N/A	INTRINSIC
low complexity region	328	341	N/A	INTRINSIC
low complexity region	428	446	N/A	INTRINSIC
low complexity region	571	600	N/A	INTRINSIC
low complexity region	607	628	N/A	INTRINSIC
low complexity region	714	741	N/A	INTRINSIC
low complexity region	769	782	N/A	INTRINSIC
low complexity region	786	811	N/A	INTRINSIC
low complexity region	830	846	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000130360
AA Change: R825S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115355
Gene: ENSMUSG00000043079
AA Change: R825S

Domain	Start	End	E-Value	Type
low complexity region	33	43	N/A	INTRINSIC
low complexity region	208	232	N/A	INTRINSIC
low complexity region	317	329	N/A	INTRINSIC
low complexity region	567	580	N/A	INTRINSIC
low complexity region	667	685	N/A	INTRINSIC
low complexity region	810	839	N/A	INTRINSIC
low complexity region	846	867	N/A	INTRINSIC
low complexity region	913	940	N/A	INTRINSIC
low complexity region	968	981	N/A	INTRINSIC
low complexity region	985	1010	N/A	INTRINSIC
low complexity region	1029	1045	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000143275
AA Change: R825S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125272
Gene: ENSMUSG00000043079
AA Change: R825S

Domain	Start	End	E-Value	Type
low complexity region	33	43	N/A	INTRINSIC
low complexity region	208	232	N/A	INTRINSIC
low complexity region	317	329	N/A	INTRINSIC
low complexity region	567	580	N/A	INTRINSIC
low complexity region	667	685	N/A	INTRINSIC
low complexity region	810	839	N/A	INTRINSIC
low complexity region	846	867	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000155195
AA Change: R586S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117897
Gene: ENSMUSG00000043079
AA Change: R586S

Domain	Start	End	E-Value	Type
low complexity region	78	90	N/A	INTRINSIC
low complexity region	328	341	N/A	INTRINSIC
low complexity region	428	446	N/A	INTRINSIC
low complexity region	571	600	N/A	INTRINSIC
low complexity region	607	628	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Synaptopodin is an actin-associated protein that may play a role in actin-based cell shape and motility. The name synaptopodin derives from the protein's associations with postsynaptic densities and dendritic spines and with renal podocytes (Mundel et al., 1997 [PubMed 9314539]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in telencephalic neurons, reduced long term potentiation, and behavioral abnormalities including hypoactivity, reduced anxiety, and learning deficiencies. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	C	T	4: 148,029,490 (GRCm39)	R487C	probably benign	Het
2900026A02Rik	A	T	5: 113,240,966 (GRCm39)		probably null	Het
Adamts15	T	A	9: 30,816,085 (GRCm39)	T625S	probably damaging	Het
Adamtsl1	T	C	4: 86,240,264 (GRCm39)	V675A	probably benign	Het
Ank3	A	T	10: 69,809,578 (GRCm39)	T1120S	probably benign	Het
Armh3	A	T	19: 45,945,120 (GRCm39)	M277K	probably damaging	Het
Babam2	A	T	5: 31,859,194 (GRCm39)	M1L	possibly damaging	Het
Cadm3	G	A	1: 173,168,786 (GRCm39)	Q261*	probably null	Het
Cdc27	A	T	11: 104,396,496 (GRCm39)	D802E	probably benign	Het
Cfap206	C	T	4: 34,716,494 (GRCm39)	V324I	probably benign	Het
Cfap44	T	C	16: 44,242,807 (GRCm39)	I737T	probably damaging	Het
Chrm3	A	T	13: 9,928,652 (GRCm39)	I128N	probably damaging	Het
Cyfip1	T	A	7: 55,554,189 (GRCm39)	S743T	probably benign	Het
Ddias	A	G	7: 92,507,314 (GRCm39)	V867A	possibly damaging	Het
Ddx20	G	C	3: 105,585,903 (GRCm39)	T814R	possibly damaging	Het
Dgka	A	T	10: 128,566,935 (GRCm39)		probably null	Het
Dnah9	A	T	11: 65,761,775 (GRCm39)	V3905E	probably damaging	Het
Dsg3	C	A	18: 20,657,742 (GRCm39)	Q271K	probably benign	Het
Dvl2	T	A	11: 69,897,180 (GRCm39)	I294N	probably damaging	Het
E2f3	G	A	13: 30,095,239 (GRCm39)	H350Y	possibly damaging	Het
Eif2b5	G	A	16: 20,324,027 (GRCm39)	D457N	probably damaging	Het
Erbb3	T	C	10: 128,420,929 (GRCm39)	T125A	probably benign	Het
Etv5	A	C	16: 22,254,627 (GRCm39)	C78G	probably benign	Het
Frrs1	G	A	3: 116,684,582 (GRCm39)	R263H	probably benign	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Hivep3	A	T	4: 119,952,400 (GRCm39)	I239F	possibly damaging	Het
Ifi208	C	T	1: 173,510,394 (GRCm39)	T183I	probably damaging	Het
Ifitm2	AG	A	7: 140,535,814 (GRCm39)		probably null	Het
Igkv1-88	T	A	6: 68,839,313 (GRCm39)	I100F	probably damaging	Het
Kmt2c	T	C	5: 25,614,165 (GRCm39)	N185S	probably benign	Het
Kmt2d	A	C	15: 98,743,697 (GRCm39)	L3821R	unknown	Het
Krtap22-2	T	G	16: 88,807,478 (GRCm39)	Y40S	unknown	Het
Lrrc1	A	G	9: 77,349,480 (GRCm39)	V362A	probably damaging	Het
Malsu1	T	A	6: 49,061,449 (GRCm39)	I171N	probably damaging	Het
Mark1	C	T	1: 184,648,345 (GRCm39)	G314S	possibly damaging	Het
Mib2	T	C	4: 155,743,394 (GRCm39)	N135S	probably benign	Het
Mos	A	T	4: 3,870,886 (GRCm39)	L310Q	probably damaging	Het
Muc4	C	T	16: 32,569,756 (GRCm39)	T272I	possibly damaging	Het
Myo15b	A	G	11: 115,771,064 (GRCm39)	T1654A		Het
Napsa	G	T	7: 44,231,769 (GRCm39)	G153W	probably damaging	Het
Nos3	A	C	5: 24,584,761 (GRCm39)	I722L	probably benign	Het
Or10z1	A	T	1: 174,077,679 (GRCm39)	D271E	probably damaging	Het
Or1p1c	A	T	11: 74,160,743 (GRCm39)	D176V	probably damaging	Het
Or51h1	A	T	7: 102,308,199 (GRCm39)	H57L	probably damaging	Het
Or5b104	A	T	19: 13,072,513 (GRCm39)	S166R	probably benign	Het
P4ha2	T	A	11: 54,002,390 (GRCm39)	D109E	possibly damaging	Het
Pappa	G	T	4: 65,042,918 (GRCm39)	C47F	unknown	Het
Pbx3	T	A	2: 34,261,832 (GRCm39)	H34L	probably benign	Het
Pcca	A	G	14: 122,887,738 (GRCm39)	T234A	probably benign	Het
Pcdha11	C	T	18: 37,144,514 (GRCm39)	R202W	probably damaging	Het
Pcdhga1	T	G	18: 37,795,251 (GRCm39)	V85G	probably damaging	Het
Pclo	A	G	5: 14,726,562 (GRCm39)	I1807V	unknown	Het
Pgm3	A	T	9: 86,437,413 (GRCm39)	F528Y	probably benign	Het
Pigz	T	C	16: 31,763,694 (GRCm39)	Y251H	probably damaging	Het
Pik3c2g	G	T	6: 139,821,161 (GRCm39)	Q687H		Het
Pja2	A	T	17: 64,590,432 (GRCm39)	N700K	unknown	Het
Pkd2l2	T	C	18: 34,561,158 (GRCm39)	F389L	probably damaging	Het
Plcz1	T	A	6: 139,985,446 (GRCm39)	T32S	possibly damaging	Het
Pola2	A	G	19: 5,991,029 (GRCm39)	V555A	possibly damaging	Het
Ppp4r3a	A	C	12: 101,015,919 (GRCm39)	C541G	probably benign	Het
Prr15l	A	T	11: 96,825,599 (GRCm39)	K76N	probably damaging	Het
Psg28	C	A	7: 18,156,905 (GRCm39)	K443N	possibly damaging	Het
Ptch2	G	T	4: 116,954,197 (GRCm39)	A76S	probably damaging	Het
Ptch2	A	G	4: 116,966,776 (GRCm39)	D553G	possibly damaging	Het
Ptprz1	T	C	6: 23,000,855 (GRCm39)	S982P	probably benign	Het
Rnd3	T	C	2: 51,038,844 (GRCm39)	I15V	probably benign	Het
Rtn3	T	C	19: 7,460,328 (GRCm39)	K41E	unknown	Het
Sap25	T	C	5: 137,639,985 (GRCm39)	S30P	probably benign	Het
Scfd2	A	T	5: 74,692,006 (GRCm39)	I92N	probably damaging	Het
Sdr16c5	T	C	4: 4,016,108 (GRCm39)	Y106C	probably damaging	Het
Sell	T	C	1: 163,893,177 (GRCm39)	I131T	probably damaging	Het
Sesn3	T	A	9: 14,225,850 (GRCm39)	V195D	probably damaging	Het
Setdb2	A	G	14: 59,660,816 (GRCm39)	V109A	unknown	Het
Skint2	T	C	4: 112,483,054 (GRCm39)	I153T	probably benign	Het
Slc22a1	A	G	17: 12,886,142 (GRCm39)	S164P	probably damaging	Het
Sowahc	G	A	10: 59,058,305 (GRCm39)	G147D	probably benign	Het
Strip2	G	C	6: 29,931,824 (GRCm39)	G456R	probably benign	Het
Tango6	A	G	8: 107,415,701 (GRCm39)	D174G	probably benign	Het
Tas1r2	T	C	4: 139,389,316 (GRCm39)	F433S	probably damaging	Het
Tas2r126	T	C	6: 42,411,877 (GRCm39)	S137P	probably benign	Het
Tbc1d15	A	G	10: 115,044,866 (GRCm39)	F512S	probably damaging	Het
Tenm3	A	T	8: 48,870,115 (GRCm39)	L226Q	probably damaging	Het
Tmod1	A	G	4: 46,078,368 (GRCm39)	T59A	probably damaging	Het
Tmprss9	T	A	10: 80,730,787 (GRCm39)	M771K	probably benign	Het
Trim29	T	C	9: 43,238,350 (GRCm39)	Y485H	possibly damaging	Het
Ttc17	T	C	2: 94,189,198 (GRCm39)	K144E	probably benign	Het
Ttc21b	A	G	2: 66,057,287 (GRCm39)	Y562H	probably benign	Het
Ugt2b5	T	C	5: 87,285,130 (GRCm39)	H269R	probably benign	Het
Utp20	A	G	10: 88,649,798 (GRCm39)	F471L	probably damaging	Het
Vmn2r120	T	A	17: 57,832,201 (GRCm39)	D196V	possibly damaging	Het
Wdr72	T	C	9: 74,117,292 (GRCm39)	V680A	probably damaging	Het
Wee1	G	A	7: 109,721,689 (GRCm39)	G45S	probably damaging	Het
Zfp1006	A	T	8: 129,944,149 (GRCm39)	D91E	unknown	Het
Zfp518a	G	A	19: 40,901,225 (GRCm39)	V385I	probably benign	Het

Other mutations in Synpo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00725:Synpo	APN	18	60,737,149 (GRCm39)	missense	probably damaging	1.00
IGL00976:Synpo	APN	18	60,736,491 (GRCm39)	missense	possibly damaging	0.74
IGL01808:Synpo	APN	18	60,735,280 (GRCm39)	missense	probably benign	0.01
IGL02116:Synpo	APN	18	60,736,528 (GRCm39)	missense	probably damaging	1.00
IGL02444:Synpo	APN	18	60,735,502 (GRCm39)	missense	probably damaging	1.00
IGL02838:Synpo	APN	18	60,736,872 (GRCm39)	missense	probably damaging	1.00
R0420:Synpo	UTSW	18	60,735,490 (GRCm39)	missense	probably damaging	0.97
R0650:Synpo	UTSW	18	60,735,412 (GRCm39)	missense	possibly damaging	0.83
R0790:Synpo	UTSW	18	60,736,575 (GRCm39)	missense	probably damaging	0.98
R1213:Synpo	UTSW	18	60,735,525 (GRCm39)	missense	possibly damaging	0.83
R1695:Synpo	UTSW	18	60,736,459 (GRCm39)	missense	probably benign	0.00
R1763:Synpo	UTSW	18	60,735,856 (GRCm39)	missense	probably damaging	1.00
R1920:Synpo	UTSW	18	60,736,661 (GRCm39)	missense	probably benign	0.00
R1921:Synpo	UTSW	18	60,736,661 (GRCm39)	missense	probably benign	0.00
R2133:Synpo	UTSW	18	60,735,967 (GRCm39)	missense	probably damaging	1.00
R3757:Synpo	UTSW	18	60,736,062 (GRCm39)	missense	probably damaging	1.00
R4796:Synpo	UTSW	18	60,737,386 (GRCm39)	missense	probably damaging	0.97
R4841:Synpo	UTSW	18	60,736,684 (GRCm39)	missense	probably damaging	0.99
R4842:Synpo	UTSW	18	60,736,684 (GRCm39)	missense	probably damaging	0.99
R4911:Synpo	UTSW	18	60,762,936 (GRCm39)	utr 5 prime	probably benign
R5091:Synpo	UTSW	18	60,735,831 (GRCm39)	nonsense	probably null
R5327:Synpo	UTSW	18	60,736,918 (GRCm39)	missense	possibly damaging	0.93
R5354:Synpo	UTSW	18	60,735,303 (GRCm39)	critical splice donor site	probably null
R5671:Synpo	UTSW	18	60,729,022 (GRCm39)	missense	probably damaging	0.99
R5868:Synpo	UTSW	18	60,737,118 (GRCm39)	missense	probably damaging	1.00
R6007:Synpo	UTSW	18	60,736,687 (GRCm39)	missense	probably benign	0.35
R7266:Synpo	UTSW	18	60,762,631 (GRCm39)	missense	probably benign	0.00
R7472:Synpo	UTSW	18	60,762,895 (GRCm39)	missense	probably benign	0.00
R7509:Synpo	UTSW	18	60,736,566 (GRCm39)	missense	probably damaging	1.00
R7554:Synpo	UTSW	18	60,736,405 (GRCm39)	missense	probably benign	0.21
R7584:Synpo	UTSW	18	60,729,349 (GRCm39)	missense	probably damaging	0.96
R7615:Synpo	UTSW	18	60,737,547 (GRCm39)	missense	probably damaging	1.00
R7633:Synpo	UTSW	18	60,736,500 (GRCm39)	missense	probably damaging	1.00
R8499:Synpo	UTSW	18	60,736,044 (GRCm39)	missense	probably damaging	1.00
R8512:Synpo	UTSW	18	60,735,483 (GRCm39)	missense	probably damaging	0.99
R8996:Synpo	UTSW	18	60,737,230 (GRCm39)	missense	possibly damaging	0.95
R9116:Synpo	UTSW	18	60,735,599 (GRCm39)	missense	probably damaging	0.98
R9798:Synpo	UTSW	18	60,736,832 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- ATCACTGCTGTAAGTGGGACTC -3'
(R):5'- TGGAAGTACACCACTAACGC -3'

Sequencing Primer
(F):5'- TCTTGGACTGGGGCAGTGTAGAG -3'
(R):5'- AGTGGCATCCTTAAGTCCAGC -3'

Posted On

2022-04-18