Mutagenetix > Incidental Mutation

Incidental Mutation 'R7968:Synpo2l'

656436

Institutional Source

Beutler Lab

Gene Symbol

Synpo2l

Ensembl Gene

ENSMUSG00000039376

Gene Name

synaptopodin 2-like

Synonyms

1110054M18Rik, Chap

MMRRC Submission

046011-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.814) question?

Stock #

R7968 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20709014-20718422 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 20716870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112792 (fasta)

Gene Model

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

AlphaFold

Q8BWB1

Predicted Effect

probably null
Transcript: ENSMUST00000057090

SMART Domains

Protein: ENSMUSP00000053176
Gene: ENSMUSG00000039376

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 null
Transcript: ENSMUST00000117386

SMART Domains

Protein: ENSMUSP00000112792
Gene: ENSMUSG00000039376

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 benign
Transcript: ENSMUST00000119483

SMART Domains

Protein: ENSMUSP00000112760
Gene: ENSMUSG00000039376

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,922,441 (GRCm39)	T35A		Het
Adamts16	A	C	13: 70,886,701 (GRCm39)	S1030A	probably benign	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Aff4	C	T	11: 53,300,175 (GRCm39)	T1026I	probably damaging	Het
Arfgef1	T	C	1: 10,243,145 (GRCm39)	Y1065C	probably damaging	Het
Arhgef3	G	T	14: 27,108,070 (GRCm39)	D192Y	probably damaging	Het
Arhgef3	G	A	14: 27,116,062 (GRCm39)	R268Q	probably damaging	Het
Atp6v0e	T	A	17: 26,913,885 (GRCm39)		probably null	Het
B3galt9	A	G	2: 34,728,257 (GRCm39)	N19D	probably damaging	Het
Cenpc1	A	G	5: 86,181,551 (GRCm39)	Y605H	probably benign	Het
Cftr	T	C	6: 18,226,048 (GRCm39)	V332A	probably benign	Het
Csmd2	A	G	4: 128,091,118 (GRCm39)	H219R		Het
Csnk1g3	C	T	18: 54,028,726 (GRCm39)		probably benign	Het
Cyp4f17	T	C	17: 32,743,116 (GRCm39)	V263A	possibly damaging	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Entrep1	G	T	19: 23,962,091 (GRCm39)	T304K	probably damaging	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Gstm4	A	T	3: 107,951,677 (GRCm39)	M35K	probably damaging	Het
Kcna2	A	G	3: 107,012,460 (GRCm39)	Y347C	possibly damaging	Het
Kcnh7	G	A	2: 62,566,444 (GRCm39)	T829M	probably damaging	Het
Kcnu1	T	C	8: 26,400,898 (GRCm39)	V682A	probably benign	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Kera	A	G	10: 97,444,821 (GRCm39)	E60G	possibly damaging	Het
Letm2	C	T	8: 26,083,766 (GRCm39)	G155D	probably damaging	Het
Lrfn4	G	A	19: 4,663,343 (GRCm39)	A397V	probably benign	Het
Lrp4	A	G	2: 91,324,424 (GRCm39)	Q1253R	possibly damaging	Het
Mob1a	T	A	6: 83,315,287 (GRCm39)	M145K	probably benign	Het
Nab1	A	G	1: 52,529,295 (GRCm39)	C201R	probably damaging	Het
Nlrp9b	A	G	7: 19,762,493 (GRCm39)	E710G	probably benign	Het
Oas2	A	G	5: 120,876,437 (GRCm39)	V502A	probably benign	Het
Or1e26	T	C	11: 73,480,154 (GRCm39)	S137G	probably benign	Het
Or52d3	T	A	7: 104,229,595 (GRCm39)	C247*	probably null	Het
Or52h7	A	T	7: 104,213,857 (GRCm39)	H143L	probably benign	Het
Parg	A	T	14: 31,936,327 (GRCm39)	H494L	possibly damaging	Het
Phf20	T	A	2: 156,135,464 (GRCm39)	D600E	probably benign	Het
Ppef2	G	A	5: 92,397,022 (GRCm39)	R118C	probably damaging	Het
Ptprz1	T	A	6: 22,959,675 (GRCm39)	N57K	probably damaging	Het
Rrbp1	A	T	2: 143,832,081 (GRCm39)	S29T	probably damaging	Het
Sema3g	C	A	14: 30,942,605 (GRCm39)	R69S	probably damaging	Het
Slc12a4	G	A	8: 106,678,237 (GRCm39)	R319W	possibly damaging	Het
Slc4a3	A	G	1: 75,528,007 (GRCm39)	T419A	probably benign	Het
Smc3	T	C	19: 53,611,649 (GRCm39)		probably null	Het
Sntg1	C	T	1: 8,535,760 (GRCm39)	W288*	probably null	Het
Tap1	A	G	17: 34,413,886 (GRCm39)	I634V	probably damaging	Het
Tmem25	A	G	9: 44,706,983 (GRCm39)	S278P	probably benign	Het
Togaram2	T	C	17: 72,024,428 (GRCm39)	S871P	probably benign	Het
Trim37	T	C	11: 87,040,179 (GRCm39)	V225A	possibly damaging	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	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
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
R8853:Synpo2l	UTSW	14	20,711,442 (GRCm39)	missense	probably damaging	1.00
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'- TTACTGAAGCCAGGCCAGTG -3'
(R):5'- TTACCTCTAGACAGGCCTCC -3'

Sequencing Primer
(F):5'- CCAGTGAGACAGAGCTGAGACC -3'
(R):5'- TCCCTGCTAGCACCCCAG -3'

Posted On

2020-11-11