Mutagenetix > Incidental Mutation

Incidental Mutation 'R3085:Synpo2l'

265606

Institutional Source

Beutler Lab

Gene Symbol

Synpo2l

Ensembl Gene

ENSMUSG00000039376

Gene Name

synaptopodin 2-like

Synonyms

1110054M18Rik, Chap

MMRRC Submission

040574-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.809) question?

Stock #

R3085 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20709014-20718422 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20712248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 350 (D350G)

Ref Sequence

ENSEMBL: ENSMUSP00000053176 (fasta)

Gene Model

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

AlphaFold

Q8BWB1

Predicted Effect

probably damaging
Transcript: ENSMUST00000057090
AA Change: D350G

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

SMART Domains

Protein: ENSMUSP00000053176
Gene: ENSMUSG00000039376
AA Change: D350G

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 damaging
Transcript: ENSMUST00000117386
AA Change: D353G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112792
Gene: ENSMUSG00000039376
AA Change: D353G

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

possibly damaging
Transcript: ENSMUST00000119483
AA Change: D124G

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112760
Gene: ENSMUSG00000039376
AA Change: D124G

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

0.1666

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	A	8: 87,270,536 (GRCm39)		probably benign	Het
Adrm1	T	C	2: 179,816,094 (GRCm39)		probably null	Het
Aldh18a1	T	C	19: 40,562,813 (GRCm39)	I76V	probably benign	Het
Atp1b2	T	C	11: 69,493,705 (GRCm39)	K125E	possibly damaging	Het
Cabyr	T	C	18: 12,884,023 (GRCm39)	V170A	probably damaging	Het
Cdh8	T	C	8: 99,923,018 (GRCm39)	T293A	probably benign	Het
Cenpc1	A	T	5: 86,185,476 (GRCm39)	V345D	probably benign	Het
Col4a3	A	G	1: 82,628,979 (GRCm39)	E131G	unknown	Het
Col4a4	C	T	1: 82,507,285 (GRCm39)		probably null	Het
Creb3l1	G	T	2: 91,825,789 (GRCm39)		probably null	Het
Dhx9	T	C	1: 153,341,445 (GRCm39)	D601G	probably benign	Het
Dipk1a	G	T	5: 108,062,290 (GRCm39)	D28E	probably damaging	Het
Dnaaf4	T	A	9: 72,879,688 (GRCm39)	N289K	probably benign	Het
Eml6	T	C	11: 29,759,332 (GRCm39)	E807G	probably damaging	Het
Exog	C	A	9: 119,291,518 (GRCm39)	T241K	probably benign	Het
Eya1	T	C	1: 14,344,314 (GRCm39)	D109G	probably benign	Het
Fat2	C	T	11: 55,142,997 (GRCm39)	R4284H	possibly damaging	Het
Fbxw13	C	A	9: 109,013,299 (GRCm39)	G130*	probably null	Het
Fcrl5	A	G	3: 87,353,771 (GRCm39)	Y372C	probably damaging	Het
Gli3	T	C	13: 15,835,526 (GRCm39)	S435P	probably damaging	Het
Gsg1l	C	T	7: 125,490,852 (GRCm39)	R284H	probably benign	Het
Havcr1	C	T	11: 46,647,052 (GRCm39)	T162I	probably damaging	Het
Igdcc4	T	C	9: 65,039,340 (GRCm39)	F947S	probably damaging	Het
Irx1	G	T	13: 72,111,411 (GRCm39)	A66E	probably damaging	Het
Klf11	T	C	12: 24,705,490 (GRCm39)	S315P	probably benign	Het
Kynu	A	G	2: 43,492,312 (GRCm39)	M190V	probably benign	Het
Lrp2	T	C	2: 69,297,479 (GRCm39)	T3161A	probably benign	Het
Macrod1	G	T	19: 7,173,859 (GRCm39)	A208S	probably damaging	Het
Mamdc2	G	A	19: 23,288,296 (GRCm39)	H581Y	possibly damaging	Het
Megf8	T	A	7: 25,048,444 (GRCm39)	Y1706N	probably damaging	Het
Mthfd1l	G	A	10: 4,040,007 (GRCm39)	R806H	probably benign	Het
Nags	T	A	11: 102,036,810 (GRCm39)	V133D	probably damaging	Het
Nrg3	C	A	14: 38,092,906 (GRCm39)	D560Y	probably damaging	Het
Or4f60	C	A	2: 111,902,320 (GRCm39)	G203*	probably null	Het
Or4k36	A	G	2: 111,146,461 (GRCm39)	I212M	probably benign	Het
Or4p23	A	G	2: 88,576,488 (GRCm39)	F248S	probably damaging	Het
Or5af2	T	C	11: 58,708,553 (GRCm39)	S240P	probably damaging	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pde6d	T	C	1: 86,475,248 (GRCm39)		probably null	Het
Plekhf1	T	C	7: 37,921,001 (GRCm39)	E189G	probably benign	Het
Ppm1b	A	T	17: 85,321,288 (GRCm39)	I477L	probably benign	Het
Rad51ap2	C	A	12: 11,506,758 (GRCm39)	Q227K	possibly damaging	Het
Rnf125	T	C	18: 21,110,787 (GRCm39)	V15A	probably benign	Het
Rnps1	C	T	17: 24,631,393 (GRCm39)		probably benign	Het
Robo1	A	G	16: 72,798,898 (GRCm39)	I953V	possibly damaging	Het
Sash1	A	T	10: 8,618,186 (GRCm39)		probably null	Het
Smarcc2	T	C	10: 128,324,028 (GRCm39)		probably benign	Het
Stx12	T	A	4: 132,584,672 (GRCm39)	E224V	probably damaging	Het
Sun1	T	C	5: 139,221,356 (GRCm39)	V357A	probably benign	Het
Tex15	A	T	8: 34,064,913 (GRCm39)	N1448Y	probably benign	Het
Tfpi	A	G	2: 84,273,227 (GRCm39)		probably benign	Het
Tktl2	T	A	8: 66,965,858 (GRCm39)	M472K	possibly damaging	Het
Tmem40	T	C	6: 115,718,576 (GRCm39)	D43G	possibly damaging	Het
Tshz2	T	A	2: 169,725,871 (GRCm39)	C156S	probably benign	Het
Vmn2r101	T	A	17: 19,809,077 (GRCm39)		probably null	Het
Vmn2r85	T	C	10: 130,261,081 (GRCm39)	M419V	probably benign	Het
Wdr73	G	A	7: 80,550,990 (GRCm39)		probably benign	Het
Zc3hc1	C	T	6: 30,374,763 (GRCm39)		probably null	Het
Zfhx3	T	C	8: 109,682,664 (GRCm39)	Y3368H	unknown	Het
Zfp263	G	A	16: 3,567,580 (GRCm39)	E632K	probably damaging	Het
Zfp266	A	G	9: 20,412,240 (GRCm39)	L111P	probably damaging	Het
Zfp626	T	A	7: 27,517,587 (GRCm39)	S189R	probably benign	Het
Zfp772	T	C	7: 7,206,699 (GRCm39)	R331G	possibly damaging	Het
Zkscan5	G	A	5: 145,157,889 (GRCm39)	C797Y	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
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
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'- CTCTGCCCATTAAGCATAGCTG -3'
(R):5'- AAATGCCGGACCATTGCATCC -3'

Sequencing Primer
(F):5'- ATAGCTGCTGGGCCCAC -3'
(R):5'- CTCACTCCAAGGGGGTGCTTATG -3'

Posted On

2015-02-05