Mutagenetix > Incidental Mutation

Incidental Mutation 'R8853:Synpo2l'

675138

Institutional Source

Beutler Lab

Gene Symbol

Synpo2l

Ensembl Gene

ENSMUSG00000039376

Gene Name

synaptopodin 2-like

Synonyms

1110054M18Rik, Chap

MMRRC Submission

068675-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.814) question?

Stock #

R8853 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20709014-20718422 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 20711442 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 622 (G622C)

Ref Sequence

ENSEMBL: ENSMUSP00000112792 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057090] [ENSMUST00000090469] [ENSMUST00000117386] [ENSMUST00000119483]

AlphaFold

Q8BWB1

Predicted Effect

probably damaging
Transcript: ENSMUST00000057090
AA Change: G619C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053176
Gene: ENSMUSG00000039376
AA Change: G619C

Domain	Start	End	E-Value	Type
PDZ	15	85	3.52e-10	SMART
low complexity region	101	112	N/A	INTRINSIC
low complexity region	151	162	N/A	INTRINSIC
low complexity region	202	230	N/A	INTRINSIC
low complexity region	243	257	N/A	INTRINSIC
low complexity region	429	444	N/A	INTRINSIC
low complexity region	500	518	N/A	INTRINSIC
low complexity region	530	540	N/A	INTRINSIC
low complexity region	563	580	N/A	INTRINSIC
low complexity region	591	604	N/A	INTRINSIC
low complexity region	700	726	N/A	INTRINSIC
low complexity region	781	797	N/A	INTRINSIC
low complexity region	867	880	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090469

SMART Domains

Protein: ENSMUSP00000087955
Gene: ENSMUSG00000068697

Domain	Start	End	E-Value	Type
Pfam:Calsarcin	1	296	1.9e-105	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000117386
AA Change: G622C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112792
Gene: ENSMUSG00000039376
AA Change: G622C

Domain	Start	End	E-Value	Type
PDZ	15	88	1.34e-15	SMART
low complexity region	104	115	N/A	INTRINSIC
low complexity region	154	165	N/A	INTRINSIC
low complexity region	205	233	N/A	INTRINSIC
low complexity region	246	260	N/A	INTRINSIC
low complexity region	432	447	N/A	INTRINSIC
low complexity region	503	521	N/A	INTRINSIC
low complexity region	533	543	N/A	INTRINSIC
low complexity region	566	583	N/A	INTRINSIC
low complexity region	594	607	N/A	INTRINSIC
low complexity region	703	729	N/A	INTRINSIC
low complexity region	784	800	N/A	INTRINSIC
low complexity region	870	883	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119483
AA Change: G393C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112760
Gene: ENSMUSG00000039376
AA Change: G393C

Domain	Start	End	E-Value	Type
low complexity region	203	218	N/A	INTRINSIC
low complexity region	274	292	N/A	INTRINSIC
low complexity region	304	314	N/A	INTRINSIC
low complexity region	337	354	N/A	INTRINSIC
low complexity region	365	378	N/A	INTRINSIC
low complexity region	474	500	N/A	INTRINSIC
low complexity region	555	571	N/A	INTRINSIC
low complexity region	641	654	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1	A	T	6: 48,882,994 (GRCm39)	Y290F	probably benign	Het
Ap5m1	T	A	14: 49,311,337 (GRCm39)	L136M	possibly damaging	Het
Arpp21	T	G	9: 111,976,516 (GRCm39)	T322P	probably damaging	Het
Atp6v1c2	C	T	12: 17,351,148 (GRCm39)	V128M	possibly damaging	Het
C4b	A	G	17: 34,948,879 (GRCm39)	V1523A	possibly damaging	Het
Copg2	G	C	6: 30,803,115 (GRCm39)	L277V	probably benign	Het
Cyp2b19	A	G	7: 26,456,645 (GRCm39)	T12A	possibly damaging	Het
D5Ertd579e	A	T	5: 36,787,024 (GRCm39)	C115S	probably damaging	Het
Defb35	G	A	8: 22,430,806 (GRCm39)	R60Q	unknown	Het
Dlgap3	T	A	4: 127,088,810 (GRCm39)	D135E	probably damaging	Het
Dync2h1	A	T	9: 7,117,645 (GRCm39)	W2215R	possibly damaging	Het
Eea1	G	C	10: 95,857,517 (GRCm39)	A660P		Het
Egfr	A	G	11: 16,858,885 (GRCm39)	I955V	possibly damaging	Het
Eif3b	G	A	5: 140,425,774 (GRCm39)	V655M	probably damaging	Het
Elp3	T	A	14: 65,815,390 (GRCm39)	I220F	probably benign	Het
Ern2	A	G	7: 121,772,967 (GRCm39)	V550A	probably damaging	Het
Evc	G	A	5: 37,460,647 (GRCm39)	S857L	possibly damaging	Het
Glt28d2	T	A	3: 85,779,087 (GRCm39)	M129L	probably benign	Het
Hcn1	ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	13: 118,112,269 (GRCm39)		probably benign	Het
Hmcn1	A	T	1: 150,547,726 (GRCm39)	Y2742N	probably damaging	Het
Klhl6	T	A	16: 19,765,979 (GRCm39)	Q541L	possibly damaging	Het
Myh14	G	A	7: 44,265,678 (GRCm39)	T1559I	probably benign	Het
Myo7b	A	G	18: 32,119,744 (GRCm39)	F783L	possibly damaging	Het
Myrip	C	T	9: 120,290,487 (GRCm39)	A702V	probably damaging	Het
Ndnf	C	A	6: 65,680,161 (GRCm39)	Q147K	probably benign	Het
Necab2	C	G	8: 120,189,339 (GRCm39)	R170G	possibly damaging	Het
Nfatc4	T	C	14: 56,063,690 (GRCm39)	I59T	probably damaging	Het
Nfix	A	G	8: 85,454,276 (GRCm39)	S211P	probably damaging	Het
Nlrp5	A	T	7: 23,117,725 (GRCm39)	Q483L	possibly damaging	Het
Or6k14	T	C	1: 173,927,861 (GRCm39)	V279A	probably damaging	Het
Pde4a	A	G	9: 21,106,119 (GRCm39)	T245A	possibly damaging	Het
Peli2	C	T	14: 48,493,945 (GRCm39)	T389M	probably damaging	Het
Pfas	T	C	11: 68,883,744 (GRCm39)	K638E	probably damaging	Het
Pkhd1	A	G	1: 20,143,679 (GRCm39)		probably null	Het
Plch1	T	C	3: 63,688,967 (GRCm39)	D67G	probably damaging	Het
Plcl2	A	T	17: 50,913,884 (GRCm39)	R298*	probably null	Het
Ppp1r13l	A	G	7: 19,103,893 (GRCm39)	I125V	probably benign	Het
Ppp2r3d	A	G	9: 101,090,110 (GRCm39)	V71A	probably benign	Het
Pvr	A	G	7: 19,650,897 (GRCm39)	V209A	possibly damaging	Het
Rap1gap2	A	G	11: 74,298,198 (GRCm39)	L414P	probably damaging	Het
Rasgrp2	A	G	19: 6,464,855 (GRCm39)	D601G	probably damaging	Het
Reck	T	A	4: 43,912,089 (GRCm39)	N199K	probably benign	Het
Rin2	G	T	2: 145,718,475 (GRCm39)	A652S	possibly damaging	Het
Rnf34	T	C	5: 123,002,087 (GRCm39)	L88P	possibly damaging	Het
Serpina3m	A	G	12: 104,355,914 (GRCm39)	I194V	probably benign	Het
Spred3	A	G	7: 28,861,415 (GRCm39)	S255P	probably benign	Het
Sult2a7	A	G	7: 14,225,641 (GRCm39)		probably null	Het
Tenm3	A	G	8: 48,795,382 (GRCm39)	C582R	probably damaging	Het
Tex261	A	T	6: 83,750,727 (GRCm39)	I90N	probably damaging	Het
Trappc11	A	G	8: 47,982,439 (GRCm39)	F100S	probably damaging	Het
Trhde	G	A	10: 114,636,830 (GRCm39)	P126S	probably benign	Het
Vmn2r53	A	T	7: 12,315,737 (GRCm39)	V694E	probably damaging	Het
Vmn2r54	A	T	7: 12,349,782 (GRCm39)	L600Q	probably damaging	Het
Vwf	G	A	6: 125,634,227 (GRCm39)	C2174Y		Het
Wee2	A	G	6: 40,441,200 (GRCm39)	T502A	probably benign	Het
Zfp112	A	T	7: 23,823,390 (GRCm39)		silent	Het
Zfp40	T	A	17: 23,394,691 (GRCm39)	H632L	possibly damaging	Het
Zmynd11	T	C	13: 9,740,965 (GRCm39)	S378G	probably damaging	Het

Other mutations in Synpo2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0048:Synpo2l	UTSW	14	20,716,340 (GRCm39)	unclassified	probably benign
R0277:Synpo2l	UTSW	14	20,711,856 (GRCm39)	missense	probably damaging	1.00
R0440:Synpo2l	UTSW	14	20,711,466 (GRCm39)	missense	possibly damaging	0.89
R0540:Synpo2l	UTSW	14	20,710,748 (GRCm39)	missense	probably damaging	1.00
R0607:Synpo2l	UTSW	14	20,710,748 (GRCm39)	missense	probably damaging	1.00
R0712:Synpo2l	UTSW	14	20,711,907 (GRCm39)	missense	probably damaging	1.00
R1175:Synpo2l	UTSW	14	20,718,235 (GRCm39)	missense	possibly damaging	0.93
R1563:Synpo2l	UTSW	14	20,711,346 (GRCm39)	missense	probably damaging	1.00
R1729:Synpo2l	UTSW	14	20,715,887 (GRCm39)	missense	probably damaging	1.00
R1730:Synpo2l	UTSW	14	20,715,887 (GRCm39)	missense	probably damaging	1.00
R1739:Synpo2l	UTSW	14	20,715,887 (GRCm39)	missense	probably damaging	1.00
R2199:Synpo2l	UTSW	14	20,711,987 (GRCm39)	missense	probably benign	0.00
R2213:Synpo2l	UTSW	14	20,710,734 (GRCm39)	missense	probably damaging	1.00
R3085:Synpo2l	UTSW	14	20,712,248 (GRCm39)	missense	probably damaging	1.00
R4787:Synpo2l	UTSW	14	20,711,765 (GRCm39)	missense	possibly damaging	0.49
R5256:Synpo2l	UTSW	14	20,711,082 (GRCm39)	missense	probably benign	0.00
R5454:Synpo2l	UTSW	14	20,712,360 (GRCm39)	missense	probably damaging	0.99
R5455:Synpo2l	UTSW	14	20,712,360 (GRCm39)	missense	probably damaging	0.99
R5765:Synpo2l	UTSW	14	20,716,198 (GRCm39)	missense	possibly damaging	0.95
R5950:Synpo2l	UTSW	14	20,716,003 (GRCm39)	missense	probably benign	0.00
R6376:Synpo2l	UTSW	14	20,710,702 (GRCm39)	missense	probably damaging	1.00
R6438:Synpo2l	UTSW	14	20,711,204 (GRCm39)	missense	probably benign	0.00
R6440:Synpo2l	UTSW	14	20,718,244 (GRCm39)	missense	probably damaging	0.98
R6511:Synpo2l	UTSW	14	20,712,518 (GRCm39)	missense	probably damaging	1.00
R6834:Synpo2l	UTSW	14	20,710,702 (GRCm39)	missense	probably damaging	1.00
R7735:Synpo2l	UTSW	14	20,711,243 (GRCm39)	missense	possibly damaging	0.88
R7968:Synpo2l	UTSW	14	20,716,870 (GRCm39)	splice site	probably null
R8250:Synpo2l	UTSW	14	20,712,344 (GRCm39)	missense	probably benign	0.03
R8282:Synpo2l	UTSW	14	20,711,204 (GRCm39)	missense	probably benign	0.00
R8359:Synpo2l	UTSW	14	20,716,208 (GRCm39)	missense	probably benign
R8771:Synpo2l	UTSW	14	20,710,491 (GRCm39)	missense	probably damaging	0.98
R9136:Synpo2l	UTSW	14	20,715,857 (GRCm39)	missense	probably damaging	0.97
R9253:Synpo2l	UTSW	14	20,716,738 (GRCm39)	missense	possibly damaging	0.52
R9705:Synpo2l	UTSW	14	20,710,989 (GRCm39)	missense	probably damaging	0.99
Z1088:Synpo2l	UTSW	14	20,716,035 (GRCm39)	missense	probably damaging	0.99
Z1177:Synpo2l	UTSW	14	20,710,572 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCTGCATGAAGTTACAGGCTTC -3'
(R):5'- TTGTACATCCCAGCCCCAAG -3'

Sequencing Primer
(F):5'- TCTGCACTAGTGACAGCA -3'
(R):5'- AAGCCGGCCTGTTACAC -3'

Posted On

2021-07-15