Mutagenetix > Incidental Mutation

Incidental Mutation 'R0650:Synpo'

62241

Institutional Source

Beutler Lab

Gene Symbol

Synpo

Ensembl Gene

ENSMUSG00000043079

Gene Name

synaptopodin

Synonyms

9030217H17Rik, 9330140I15Rik

MMRRC Submission

038835-MU

Accession Numbers

Essential gene?

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

Stock #

R0650 (G1)

Quality Score

178

Status

Validated

Chromosome

Chromosomal Location

60727045-60793214 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60735412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 845 (N845D)

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 benign
Transcript: ENSMUST00000097566
AA Change: N606D

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095174
Gene: ENSMUSG00000043079
AA Change: N606D

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: ENSMUST00000115318
AA Change: N606D

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110973
Gene: ENSMUSG00000043079
AA Change: N606D

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

noncoding transcript
Transcript: ENSMUST00000128528

Predicted Effect

probably benign
Transcript: ENSMUST00000130044
AA Change: N606D

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121756
Gene: ENSMUSG00000043079
AA Change: N606D

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

possibly damaging
Transcript: ENSMUST00000130360
AA Change: N845D

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115355
Gene: ENSMUSG00000043079
AA Change: N845D

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

noncoding transcript
Transcript: ENSMUST00000137894

Predicted Effect

probably benign
Transcript: ENSMUST00000143275
AA Change: N845D

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125272
Gene: ENSMUSG00000043079
AA Change: N845D

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 benign
Transcript: ENSMUST00000155195
AA Change: N606D

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117897
Gene: ENSMUSG00000043079
AA Change: N606D

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

noncoding transcript
Transcript: ENSMUST00000160395

Meta Mutation Damage Score

0.0589

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

99% (77/78)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N15Rik	A	G	X: 68,989,391 (GRCm39)	S96G	unknown	Het
4930447C04Rik	T	C	12: 72,956,830 (GRCm39)	D120G	probably damaging	Het
Actmap	A	T	7: 26,902,072 (GRCm39)	H233L	probably damaging	Het
Adgrg5	T	A	8: 95,660,785 (GRCm39)		probably null	Het
Afg3l2	G	T	18: 67,548,627 (GRCm39)	H534Q	possibly damaging	Het
Ankar	G	A	1: 72,695,380 (GRCm39)		probably benign	Het
Arid2	T	A	15: 96,299,930 (GRCm39)	F1814L	possibly damaging	Het
Asb15	C	T	6: 24,566,163 (GRCm39)	A372V	probably damaging	Het
Atg16l1	A	T	1: 87,709,421 (GRCm39)	D403V	possibly damaging	Het
Bnc2	T	C	4: 84,211,433 (GRCm39)	D407G	probably benign	Het
Ccdc121	T	C	5: 31,643,312 (GRCm39)		probably benign	Het
Cdan1	A	G	2: 120,556,526 (GRCm39)	V633A	probably benign	Het
Cfap46	T	C	7: 139,185,571 (GRCm39)	Y2482C	unknown	Het
Chd8	T	C	14: 52,439,761 (GRCm39)	E964G	probably benign	Het
Cyp2s1	A	G	7: 25,508,683 (GRCm39)	V253A	probably damaging	Het
Depdc1b	A	G	13: 108,460,443 (GRCm39)	N18D	probably damaging	Het
Fis1	T	A	5: 136,991,048 (GRCm39)	V4E	probably damaging	Het
Gba2	T	A	4: 43,570,424 (GRCm39)		probably null	Het
Gm2381	C	T	7: 42,469,504 (GRCm39)	G207R	probably damaging	Het
Gpr89	T	A	3: 96,804,640 (GRCm39)		probably benign	Het
Gtf2i	A	G	5: 134,290,691 (GRCm39)		probably benign	Het
Herc2	T	G	7: 55,762,958 (GRCm39)	S896A	probably damaging	Het
Huwe1	T	C	X: 150,659,309 (GRCm39)	S921P	probably damaging	Het
Iqgap1	T	A	7: 80,386,143 (GRCm39)	K936I	probably damaging	Het
Kcna4	T	A	2: 107,125,927 (GRCm39)	Y220*	probably null	Het
Krt18	A	G	15: 101,937,920 (GRCm39)	D139G	possibly damaging	Het
Krt87	T	C	15: 101,384,921 (GRCm39)	N392D	probably damaging	Het
L3mbtl4	G	A	17: 69,081,286 (GRCm39)	C558Y	probably damaging	Het
Lamc2	T	A	1: 153,019,622 (GRCm39)	I440F	possibly damaging	Het
Lrrc28	T	C	7: 67,267,833 (GRCm39)	N98S	probably damaging	Het
Lrrk1	G	A	7: 65,942,084 (GRCm39)	A718V	probably damaging	Het
Mrgprx2	T	C	7: 48,132,666 (GRCm39)	I51V	probably damaging	Het
Myt1	A	T	2: 181,424,408 (GRCm39)	R25*	probably null	Het
Npdc1	C	T	2: 25,298,021 (GRCm39)	T199I	probably benign	Het
Nup98	T	A	7: 101,801,660 (GRCm39)	Y755F	probably damaging	Het
Or51q1c	A	G	7: 103,652,446 (GRCm39)		probably null	Het
Or5p69	T	A	7: 107,966,996 (GRCm39)	C100S	probably damaging	Het
Or5p76	G	T	7: 108,122,289 (GRCm39)	N289K	probably damaging	Het
Or8g22	T	A	9: 38,957,996 (GRCm39)	M240L	probably benign	Het
Osgin1	A	T	8: 120,172,211 (GRCm39)	Y335F	probably damaging	Het
Pde10a	A	T	17: 9,161,797 (GRCm39)	I493F	probably damaging	Het
Pdgfrb	A	G	18: 61,212,780 (GRCm39)	I895V	probably benign	Het
Peg10	T	TCCCCANNANNNN	6: 4,756,475 (GRCm39)		probably benign	Het
Pidd1	A	T	7: 141,020,726 (GRCm39)	L457*	probably null	Het
Pik3c2a	A	G	7: 115,945,482 (GRCm39)		probably benign	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Plcg1	C	T	2: 160,595,283 (GRCm39)		probably benign	Het
Prr13	A	C	15: 102,370,650 (GRCm39)	*138C	probably null	Het
Prrc2b	T	C	2: 32,119,267 (GRCm39)		probably benign	Het
Psph	T	C	5: 129,868,633 (GRCm39)		probably benign	Het
Ripor1	A	G	8: 106,344,746 (GRCm39)		probably benign	Het
Scg3	A	G	9: 75,576,617 (GRCm39)	S253P	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Sgk1	A	G	10: 21,758,556 (GRCm39)	N7D	probably damaging	Het
Skor2	T	C	18: 76,964,255 (GRCm39)	F940L	probably benign	Het
Slbp	T	C	5: 33,802,833 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Susd5	A	T	9: 113,911,603 (GRCm39)	H171L	possibly damaging	Het
Sybu	T	C	15: 44,536,664 (GRCm39)	E354G	probably benign	Het
Tdrd6	A	T	17: 43,939,050 (GRCm39)	I666N	probably damaging	Het
Tm9sf4	T	C	2: 153,029,285 (GRCm39)	I111T	probably benign	Het
Tnc	T	C	4: 63,926,971 (GRCm39)	T852A	probably benign	Het
Tnfrsf10b	T	A	14: 70,013,625 (GRCm39)	I185K	probably damaging	Het
Tnks1bp1	A	G	2: 84,892,974 (GRCm39)	E305G	possibly damaging	Het
Tnrc6b	T	C	15: 80,668,959 (GRCm39)	V22A	probably benign	Het
Ttn	A	T	2: 76,598,956 (GRCm39)	F19319Y	probably damaging	Het
Ubr5	T	C	15: 38,031,051 (GRCm39)		probably benign	Het
Ugt2b5	T	A	5: 87,287,627 (GRCm39)	Q191L	probably benign	Het
Urod	T	C	4: 116,848,473 (GRCm39)	T300A	probably benign	Het
Vmn1r213	A	G	13: 23,195,564 (GRCm39)		probably benign	Het
Znfx1	G	A	2: 166,889,574 (GRCm39)	Q723*	probably null	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
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
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'- ACTAAGCCCCGAGCTATATCCTTCC -3'
(R):5'- ACCACGGCTATCTGCCAGAGAATG -3'

Sequencing Primer
(F):5'- ccgagctatatccTTCCCACATC -3'
(R):5'- CTATCTGCCAGAGAATGGAGTCC -3'

Posted On

2013-07-30