Mutagenetix > Incidental Mutation

Incidental Mutation 'R7266:Synpo'

564965

Institutional Source

Beutler Lab

Gene Symbol

Synpo

Ensembl Gene

ENSMUSG00000043079

Gene Name

synaptopodin

Synonyms

9030217H17Rik, 9330140I15Rik

MMRRC Submission

045389-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.238) question?

Stock #

R7266 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60727045-60793214 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60762631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 92 (F92S)

Ref Sequence

ENSEMBL: ENSMUSP00000115355 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000130044] [ENSMUST00000130360] [ENSMUST00000143275]

AlphaFold

Q8CC35

Predicted Effect

probably benign
Transcript: ENSMUST00000130044

SMART Domains

Protein: ENSMUSP00000121756
Gene: ENSMUSG00000043079

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 benign
Transcript: ENSMUST00000130360
AA Change: F92S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000115355
Gene: ENSMUSG00000043079
AA Change: F92S

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 benign
Transcript: ENSMUST00000143275
AA Change: F92S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000125272
Gene: ENSMUSG00000043079
AA Change: F92S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	A	8: 25,157,639 (GRCm39)	I104F	probably benign	Het
Adgrg7	C	T	16: 56,590,674 (GRCm39)	V166I	probably benign	Het
Agfg1	G	T	1: 82,859,966 (GRCm39)	V278L	probably benign	Het
Alpk3	A	G	7: 80,742,328 (GRCm39)	E715G	possibly damaging	Het
Ap2m1	A	G	16: 20,362,095 (GRCm39)	Y401C	probably damaging	Het
Arhgef28	C	T	13: 98,101,960 (GRCm39)	S838N	probably benign	Het
Ash2l	A	T	8: 26,317,233 (GRCm39)	Y373*	probably null	Het
Best2	C	T	8: 85,734,393 (GRCm39)	V442I	probably benign	Het
Col4a2	T	C	8: 11,475,542 (GRCm39)		probably null	Het
Fat2	T	A	11: 55,175,856 (GRCm39)	D1619V	probably damaging	Het
Fer1l6	A	T	15: 58,499,446 (GRCm39)	N1272I	probably benign	Het
Gcc1	T	A	6: 28,417,995 (GRCm39)	*779C	probably null	Het
Gm12216	G	A	11: 53,750,077 (GRCm39)		probably benign	Het
Grm2	C	T	9: 106,524,370 (GRCm39)	V311I		Het
Immt	T	A	6: 71,851,689 (GRCm39)	D683E	probably benign	Het
Itga8	T	G	2: 12,237,712 (GRCm39)	D336A	probably damaging	Het
Jhy	T	C	9: 40,872,453 (GRCm39)	T19A	probably benign	Het
Kcnq2	T	C	2: 180,776,885 (GRCm39)	M1V	probably null	Het
Kctd17	A	T	15: 78,317,214 (GRCm39)	I117F	probably damaging	Het
Lrp6	T	C	6: 134,484,364 (GRCm39)	T420A	probably damaging	Het
Manba	T	C	3: 135,223,673 (GRCm39)	S187P	probably damaging	Het
Mef2b	A	T	8: 70,616,938 (GRCm39)	D13V	probably damaging	Het
Mical2	T	C	7: 111,902,963 (GRCm39)	F145L	probably damaging	Het
Mphosph8	T	A	14: 56,922,497 (GRCm39)	D551E	possibly damaging	Het
Mplkipl1	A	G	19: 61,163,973 (GRCm39)	V154A	possibly damaging	Het
Myo10	C	G	15: 25,783,067 (GRCm39)	R1170G	probably damaging	Het
Myo16	A	C	8: 10,322,687 (GRCm39)	Q39P	unknown	Het
Myo1f	A	G	17: 33,820,668 (GRCm39)	E837G	probably benign	Het
Nell2	T	A	15: 95,333,274 (GRCm39)	I128F	possibly damaging	Het
Or1i2	A	G	10: 78,448,448 (GRCm39)	V9A	probably benign	Het
Pcdh15	A	T	10: 74,215,222 (GRCm39)	R659*	probably null	Het
Pcdhga1	A	G	18: 37,973,028 (GRCm39)	Q881R	possibly damaging	Het
Plekhm2	T	G	4: 141,369,770 (GRCm39)	E75A	possibly damaging	Het
Prc1	A	G	7: 79,957,405 (GRCm39)	K357E	possibly damaging	Het
Pxk	T	A	14: 8,146,220 (GRCm38)	C377S	probably benign	Het
Ralgapa2	T	C	2: 146,176,488 (GRCm39)	E1696G	probably damaging	Het
Rbbp6	T	A	7: 122,600,590 (GRCm39)	S1532R	unknown	Het
Scn5a	G	T	9: 119,391,626 (GRCm39)	A22E	probably benign	Het
Sctr	G	A	1: 119,949,955 (GRCm39)	R48Q	probably benign	Het
Siae	T	C	9: 37,534,309 (GRCm39)	V115A	probably damaging	Het
Slc16a6	A	G	11: 109,344,107 (GRCm39)	C563R	probably benign	Het
Sntg1	A	C	1: 8,752,243 (GRCm39)	V58G	possibly damaging	Het
Snx11	C	T	11: 96,663,985 (GRCm39)	V36M	probably damaging	Het
Stk3	C	A	15: 34,959,182 (GRCm39)	S330I	probably benign	Het
Tle1	A	G	4: 72,057,924 (GRCm39)		probably null	Het
Tmem117	A	G	15: 94,829,684 (GRCm39)	D173G	possibly damaging	Het
Tmem217b	C	A	17: 29,738,347 (GRCm39)	V140L	probably benign	Het
Tmprss5	T	C	9: 49,025,841 (GRCm39)	W338R	probably benign	Het
Tnfrsf19	T	C	14: 61,212,147 (GRCm39)	T168A	possibly damaging	Het
Trhde	C	T	10: 114,636,776 (GRCm39)	G144S	possibly damaging	Het
Trim56	G	T	5: 137,143,097 (GRCm39)	Q140K	probably damaging	Het
Ttn	C	T	2: 76,562,918 (GRCm39)	V28679M	probably damaging	Het
Ubxn8	G	A	8: 34,113,231 (GRCm39)	R208C	probably damaging	Het
Vmn2r72	G	T	7: 85,387,482 (GRCm39)	S694*	probably null	Het
Wdr38	T	A	2: 38,890,276 (GRCm39)	W137R	probably damaging	Het
Zdhhc6	G	T	19: 55,292,932 (GRCm39)	N271K	probably damaging	Het
Zfyve9	A	G	4: 108,575,744 (GRCm39)	S446P	possibly damaging	Het
Zmynd8	T	C	2: 165,649,492 (GRCm39)	Q867R	possibly damaging	Het
Zswim3	T	C	2: 164,662,402 (GRCm39)	I294T	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
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
R9336:Synpo	UTSW	18	60,735,472 (GRCm39)	missense	probably damaging	0.96
R9798:Synpo	UTSW	18	60,736,832 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- ATCTGGACATTCTGGGAGACTTG -3'
(R):5'- ACCTTCCAGATCCCTGATGG -3'

Sequencing Primer
(F):5'- GGGAGACTTGTGATAATCGTTAACC -3'
(R):5'- CTGATGGGAGCTACAGGTGC -3'

Posted On

2019-06-26