Mutagenetix > Incidental Mutation

Incidental Mutation 'R0540:Synpo2l'

49857

Institutional Source

Beutler Lab

Gene Symbol

Synpo2l

Ensembl Gene

ENSMUSG00000039376

Gene Name

synaptopodin 2-like

Synonyms

1110054M18Rik, Chap

MMRRC Submission

038732-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.814) question?

Stock #

R0540 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20709014-20718422 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20710748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 624 (M624K)

Ref Sequence

ENSEMBL: ENSMUSP00000112760 (fasta)

Gene Model

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

AlphaFold

Q8BWB1

Predicted Effect

probably damaging
Transcript: ENSMUST00000057090
AA Change: M850K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000053176
Gene: ENSMUSG00000039376
AA Change: M850K

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

possibly damaging
Transcript: ENSMUST00000117386
AA Change: M853K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112792
Gene: ENSMUSG00000039376
AA Change: M853K

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: M624K

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

SMART Domains

Protein: ENSMUSP00000112760
Gene: ENSMUSG00000039376
AA Change: M624K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224436

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	G	3: 59,926,627 (GRCm39)	T199A	possibly damaging	Het
Als2cl	C	A	9: 110,724,852 (GRCm39)	Y775*	probably null	Het
Ankhd1	G	T	18: 36,773,333 (GRCm39)	V59F	probably damaging	Het
Ano4	T	A	10: 88,859,806 (GRCm39)	I395F	probably benign	Het
Apcdd1	A	G	18: 63,084,967 (GRCm39)	N388S	possibly damaging	Het
Arl9	A	G	5: 77,155,118 (GRCm39)	Y83C	possibly damaging	Het
Armc2	T	A	10: 41,798,691 (GRCm39)	H706L	probably benign	Het
Arrb1	T	C	7: 99,237,403 (GRCm39)		probably null	Het
Atxn1	G	A	13: 45,711,006 (GRCm39)	S642L	probably damaging	Het
Bmp8a	A	G	4: 123,209,723 (GRCm39)	Y322H	probably damaging	Het
Btbd3	C	T	2: 138,125,736 (GRCm39)	R307W	possibly damaging	Het
C1galt1	T	C	6: 7,871,193 (GRCm39)	I343T	probably benign	Het
Capn2	A	T	1: 182,319,749 (GRCm39)	Y146*	probably null	Het
Ccdc42	C	T	11: 68,488,536 (GRCm39)	Q312*	probably null	Het
Cd209e	T	C	8: 3,901,265 (GRCm39)	K130E	probably benign	Het
Chd3	T	C	11: 69,235,184 (GRCm39)	D2054G	probably damaging	Het
Chrna1	T	C	2: 73,401,815 (GRCm39)	N161S	probably damaging	Het
Clp1	C	T	2: 84,555,935 (GRCm39)	A182T	possibly damaging	Het
Cpsf7	G	T	19: 10,510,682 (GRCm39)	E135*	probably null	Het
Csf2rb2	T	C	15: 78,172,108 (GRCm39)	Y325C	probably benign	Het
Cspg5	T	C	9: 110,076,460 (GRCm39)		probably null	Het
Ctnna2	T	C	6: 76,879,413 (GRCm39)	T824A	probably benign	Het
Cyp2b13	G	A	7: 25,781,136 (GRCm39)	V183I	probably benign	Het
D430041D05Rik	C	T	2: 104,063,790 (GRCm39)	R1354H	probably damaging	Het
Ddx24	A	G	12: 103,385,326 (GRCm39)	Y426H	possibly damaging	Het
Dexi	G	T	16: 10,360,426 (GRCm39)	Y43*	probably null	Het
Dlg1	G	A	16: 31,656,992 (GRCm39)	V596I	possibly damaging	Het
Dnah11	A	C	12: 118,046,246 (GRCm39)	W1731G	probably damaging	Het
Dnhd1	T	A	7: 105,369,995 (GRCm39)	N4473K	probably benign	Het
Dync2h1	A	C	9: 7,051,480 (GRCm39)	S3152A	probably benign	Het
Edn3	C	A	2: 174,602,767 (GRCm39)	P3Q	probably damaging	Het
Eif2a	G	A	3: 58,463,073 (GRCm39)		probably null	Het
Emb	G	A	13: 117,369,286 (GRCm39)	V56I	possibly damaging	Het
Enpp4	A	T	17: 44,410,386 (GRCm39)	C397S	probably damaging	Het
Exo5	A	G	4: 120,779,178 (GRCm39)	V229A	probably damaging	Het
Fga	G	A	3: 82,935,869 (GRCm39)	G32E	probably damaging	Het
Fkbpl	T	C	17: 34,864,333 (GRCm39)	F34L	probably benign	Het
Fsd2	T	A	7: 81,194,765 (GRCm39)	D466V	probably damaging	Het
Gcn1	T	C	5: 115,727,015 (GRCm39)	V624A	probably benign	Het
Git2	A	G	5: 114,886,335 (GRCm39)	F336L	probably damaging	Het
Greb1	T	A	12: 16,732,194 (GRCm39)	Y1589F	probably damaging	Het
H2-K2	G	T	17: 34,218,474 (GRCm39)	D127E	probably damaging	Het
Ints8	A	G	4: 11,252,926 (GRCm39)	V52A	possibly damaging	Het
Kifc1	G	A	17: 34,105,621 (GRCm39)	T62I	probably damaging	Het
Klhl6	C	A	16: 19,775,764 (GRCm39)	D265Y	possibly damaging	Het
Kmt5a	T	A	5: 124,589,373 (GRCm39)	N190K	probably damaging	Het
Lce6a	A	T	3: 92,527,635 (GRCm39)	H57Q	probably benign	Het
Lipo3	A	T	19: 33,536,967 (GRCm39)	I251K	possibly damaging	Het
Lnpep	A	T	17: 17,758,816 (GRCm39)	F843I	probably damaging	Het
Lrrc45	C	T	11: 120,605,988 (GRCm39)	R99*	probably null	Het
Lrrtm1	C	A	6: 77,221,611 (GRCm39)	A356E	probably damaging	Het
Map3k1	A	C	13: 111,900,044 (GRCm39)	H493Q	probably benign	Het
Mcm4	A	T	16: 15,449,979 (GRCm39)		probably null	Het
Mllt3	G	A	4: 87,759,281 (GRCm39)	P256S	possibly damaging	Het
Mrtfb	A	G	16: 13,199,465 (GRCm39)	E106G	probably damaging	Het
Myo7a	T	A	7: 97,721,153 (GRCm39)	T1271S	probably damaging	Het
Ncan	C	A	8: 70,567,809 (GRCm39)	R101L	possibly damaging	Het
Ndufaf7	A	G	17: 79,253,885 (GRCm39)	D361G	probably benign	Het
Neurod6	C	T	6: 55,656,572 (GRCm39)	A22T	probably benign	Het
Nexn	T	A	3: 151,953,879 (GRCm39)	K192*	probably null	Het
Nipsnap2	A	T	5: 129,831,909 (GRCm39)	Y234F	probably damaging	Het
Nlrp10	T	C	7: 108,523,492 (GRCm39)	K663E	probably benign	Het
Nprl2	A	T	9: 107,422,497 (GRCm39)	Y329F	possibly damaging	Het
Nr2f2	C	A	7: 70,004,460 (GRCm39)	R264L	probably damaging	Het
Nsun7	A	T	5: 66,440,977 (GRCm39)	K366I	probably damaging	Het
Nup35	T	A	2: 80,472,984 (GRCm39)	M19K	probably benign	Het
Or10a4	T	A	7: 106,696,933 (GRCm39)	I87K	probably benign	Het
Or11i1	A	T	3: 106,729,829 (GRCm39)	F15L	probably damaging	Het
Or1ad6	C	A	11: 50,860,670 (GRCm39)	A275D	possibly damaging	Het
Or2v1	C	G	11: 49,025,549 (GRCm39)	H177D	probably damaging	Het
Or2w2	T	A	13: 21,757,948 (GRCm39)	Y226F	probably benign	Het
Or5af1	T	A	11: 58,722,798 (GRCm39)	S273T	probably damaging	Het
Or5p51	A	G	7: 107,444,776 (GRCm39)	S55P	probably damaging	Het
Patl2	T	C	2: 121,957,150 (GRCm39)	Y128C	probably benign	Het
Pcdhac2	A	G	18: 37,278,942 (GRCm39)	I641V	probably benign	Het
Peli3	T	C	19: 4,991,939 (GRCm39)	M1V	probably null	Het
Pex16	T	A	2: 92,205,982 (GRCm39)	L25*	probably null	Het
Plekhn1	C	A	4: 156,307,204 (GRCm39)	A449S	possibly damaging	Het
Pot1b	A	T	17: 55,972,765 (GRCm39)	I469N	probably damaging	Het
Prdx6	A	C	1: 161,078,673 (GRCm39)	L5W	probably damaging	Het
Prrc1	G	A	18: 57,507,622 (GRCm39)	V259I	possibly damaging	Het
Prss38	T	C	11: 59,266,369 (GRCm39)	S30G	possibly damaging	Het
Rgs6	C	A	12: 83,106,578 (GRCm39)	Y151*	probably null	Het
Ripk4	A	C	16: 97,545,375 (GRCm39)	L361R	probably damaging	Het
Serpinb3d	C	T	1: 107,006,962 (GRCm39)	D249N	probably benign	Het
Skint10	A	T	4: 112,630,224 (GRCm39)		probably null	Het
Smg7	A	T	1: 152,731,713 (GRCm39)	N349K	probably benign	Het
Sohlh2	C	A	3: 55,115,104 (GRCm39)	S363Y	probably damaging	Het
Srsf10	A	G	4: 135,591,179 (GRCm39)	T210A	possibly damaging	Het
Thsd7a	T	A	6: 12,331,541 (GRCm39)		probably null	Het
Tnc	A	T	4: 63,938,692 (GRCm39)	V49E	probably damaging	Het
Tnik	A	C	3: 28,704,308 (GRCm39)	K989T	probably damaging	Het
Tnxb	T	A	17: 34,890,892 (GRCm39)	Y412N	probably damaging	Het
Trmt44	A	G	5: 35,726,103 (GRCm39)		probably null	Het
Tsc2	A	T	17: 24,840,686 (GRCm39)	V391E	probably damaging	Het
Ttll5	T	C	12: 85,980,450 (GRCm39)		probably null	Het
Usp28	A	G	9: 48,935,360 (GRCm39)	I104V	probably benign	Het
Vmn1r64	A	G	7: 5,887,096 (GRCm39)	L149S	probably damaging	Het
Yme1l1	T	A	2: 23,082,527 (GRCm39)	M506K	possibly damaging	Het
Zfp280d	T	A	9: 72,215,247 (GRCm39)	F98I	probably damaging	Het
Zfp62	C	A	11: 49,106,227 (GRCm39)	T106K	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
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
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'- TGGCTACTTGGAAACCACAGGAAC -3'
(R):5'- TGGAAATACTCACCCAACATCCGTG -3'

Sequencing Primer
(F):5'- AAGCTCCTGAGAGACTCTTGATG -3'
(R):5'- GTGCCCCACCTCCTATTG -3'

Posted On

2013-06-12