Mutagenetix > Incidental Mutation

Incidental Mutation 'R5396:Synpo2'

429642

Institutional Source

Beutler Lab

Gene Symbol

Synpo2

Ensembl Gene

ENSMUSG00000050315

Gene Name

synaptopodin 2

Synonyms

1110069I04Rik, 2310068J10Rik, 9530006G20Rik, myopodin, Myo

MMRRC Submission

044394-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5396 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122870168-123029798 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 122911331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 105 (Q105*)

Ref Sequence

ENSEMBL: ENSMUSP00000142508 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051443] [ENSMUST00000106426] [ENSMUST00000106427] [ENSMUST00000184590] [ENSMUST00000198584]

AlphaFold

Q91YE8

Predicted Effect

probably benign
Transcript: ENSMUST00000051443

SMART Domains

Protein: ENSMUSP00000051570
Gene: ENSMUSG00000050315

Domain	Start	End	E-Value	Type
PDZ	15	88	6.51e-14	SMART
low complexity region	339	357	N/A	INTRINSIC
internal_repeat_2	377	398	1.92e-5	PROSPERO
low complexity region	406	424	N/A	INTRINSIC
low complexity region	434	448	N/A	INTRINSIC
internal_repeat_1	477	503	1.04e-7	PROSPERO
internal_repeat_2	478	499	1.92e-5	PROSPERO
low complexity region	534	549	N/A	INTRINSIC
low complexity region	609	621	N/A	INTRINSIC
low complexity region	628	651	N/A	INTRINSIC
low complexity region	740	777	N/A	INTRINSIC
low complexity region	802	814	N/A	INTRINSIC
low complexity region	846	854	N/A	INTRINSIC
internal_repeat_1	858	884	1.04e-7	PROSPERO
low complexity region	941	950	N/A	INTRINSIC
low complexity region	1034	1051	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000106426
AA Change: Q105*

SMART Domains

Protein: ENSMUSP00000102034
Gene: ENSMUSG00000050315
AA Change: Q105*

Domain	Start	End	E-Value	Type
PDZ	15	88	6.51e-14	SMART
low complexity region	339	357	N/A	INTRINSIC
internal_repeat_2	377	398	4.61e-5	PROSPERO
low complexity region	406	424	N/A	INTRINSIC
low complexity region	434	448	N/A	INTRINSIC
internal_repeat_1	477	503	2.92e-7	PROSPERO
internal_repeat_2	478	499	4.61e-5	PROSPERO
low complexity region	534	549	N/A	INTRINSIC
low complexity region	609	621	N/A	INTRINSIC
low complexity region	628	651	N/A	INTRINSIC
low complexity region	740	777	N/A	INTRINSIC
low complexity region	802	814	N/A	INTRINSIC
low complexity region	846	854	N/A	INTRINSIC
internal_repeat_1	858	884	2.92e-7	PROSPERO
low complexity region	941	950	N/A	INTRINSIC
low complexity region	1034	1051	N/A	INTRINSIC
low complexity region	1196	1211	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000106427
AA Change: Q105*

SMART Domains

Protein: ENSMUSP00000102035
Gene: ENSMUSG00000050315
AA Change: Q105*

Domain	Start	End	E-Value	Type
PDZ	15	88	6.51e-14	SMART
low complexity region	339	357	N/A	INTRINSIC
internal_repeat_2	377	398	6.19e-5	PROSPERO
low complexity region	406	424	N/A	INTRINSIC
low complexity region	434	448	N/A	INTRINSIC
internal_repeat_1	477	503	4.33e-7	PROSPERO
internal_repeat_2	478	499	6.19e-5	PROSPERO
low complexity region	534	549	N/A	INTRINSIC
low complexity region	609	621	N/A	INTRINSIC
low complexity region	628	651	N/A	INTRINSIC
low complexity region	740	777	N/A	INTRINSIC
low complexity region	802	814	N/A	INTRINSIC
low complexity region	846	854	N/A	INTRINSIC
internal_repeat_1	858	884	4.33e-7	PROSPERO
low complexity region	941	950	N/A	INTRINSIC
low complexity region	1137	1152	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139160

SMART Domains

Protein: ENSMUSP00000123396
Gene: ENSMUSG00000050315

Domain	Start	End	E-Value	Type
low complexity region	155	170	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184590

SMART Domains

Protein: ENSMUSP00000142426
Gene: ENSMUSG00000050315

Domain	Start	End	E-Value	Type
low complexity region	48	57	N/A	INTRINSIC
low complexity region	141	158	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000198584
AA Change: Q105*

SMART Domains

Protein: ENSMUSP00000142508
Gene: ENSMUSG00000050315
AA Change: Q105*

Domain	Start	End	E-Value	Type
PDZ	15	88	6.51e-14	SMART
low complexity region	339	357	N/A	INTRINSIC
internal_repeat_2	377	398	1.92e-5	PROSPERO
low complexity region	406	424	N/A	INTRINSIC
low complexity region	434	448	N/A	INTRINSIC
internal_repeat_1	477	503	1.04e-7	PROSPERO
internal_repeat_2	478	499	1.92e-5	PROSPERO
low complexity region	534	549	N/A	INTRINSIC
low complexity region	609	621	N/A	INTRINSIC
low complexity region	628	651	N/A	INTRINSIC
low complexity region	740	777	N/A	INTRINSIC
low complexity region	802	814	N/A	INTRINSIC
low complexity region	846	854	N/A	INTRINSIC
internal_repeat_1	858	884	1.04e-7	PROSPERO
low complexity region	941	950	N/A	INTRINSIC
low complexity region	1034	1051	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	T	C	2: 127,028,873 (GRCm39)	T109A	probably damaging	Het
A430005L14Rik	GCC	G	4: 154,045,410 (GRCm39)		probably null	Het
Actr1a	T	C	19: 46,384,103 (GRCm39)	D5G	possibly damaging	Het
Adra2c	A	G	5: 35,438,217 (GRCm39)	T330A	probably benign	Het
Ahcyl2	C	T	6: 29,859,697 (GRCm39)		probably benign	Het
Ahnak	T	C	19: 8,984,539 (GRCm39)	V1941A	probably damaging	Het
Akr1b7	G	A	6: 34,389,411 (GRCm39)		probably null	Het
Anapc15	C	T	7: 101,547,810 (GRCm39)	P68L	probably damaging	Het
Ank2	A	G	3: 126,746,875 (GRCm39)	V570A	probably damaging	Het
Ano4	T	C	10: 88,948,702 (GRCm39)	E302G	probably damaging	Het
Bop1	A	T	15: 76,339,489 (GRCm39)	H285Q	probably damaging	Het
Btbd19	G	A	4: 116,980,957 (GRCm39)	A104V	probably damaging	Het
Catsperb	A	T	12: 101,560,543 (GRCm39)	I845L	possibly damaging	Het
Ccdc28b	G	T	4: 129,513,238 (GRCm39)	Q184K	probably damaging	Het
Cd101	A	G	3: 100,926,126 (GRCm39)	S198P	probably damaging	Het
Cdc7	A	T	5: 107,117,163 (GRCm39)		probably null	Het
Cdhr2	A	G	13: 54,884,269 (GRCm39)	D1268G	probably benign	Het
Celsr3	C	T	9: 108,705,781 (GRCm39)	R755W	probably damaging	Het
Chrnb1	T	A	11: 69,684,979 (GRCm39)	N117I	probably damaging	Het
Chst11	C	A	10: 83,027,083 (GRCm39)	P170Q	probably damaging	Het
Clca3b	A	G	3: 144,552,932 (GRCm39)	Y98H	probably damaging	Het
Crnkl1	A	G	2: 145,770,132 (GRCm39)	V237A	possibly damaging	Het
Ctnnbl1	G	A	2: 157,659,752 (GRCm39)		probably null	Het
Dbndd1	C	A	8: 124,236,582 (GRCm39)	R95S	probably damaging	Het
Ddx3y	A	G	Y: 1,265,965 (GRCm39)	V344A	probably damaging	Het
Defb30	A	T	14: 63,273,559 (GRCm39)		probably null	Het
Dennd10	T	C	19: 60,823,274 (GRCm39)	L303P	probably benign	Het
Dnah17	C	T	11: 118,018,108 (GRCm39)	R129Q	probably benign	Het
Dnhd1	A	T	7: 105,362,891 (GRCm39)	M3818L	probably benign	Het
Dusp4	G	T	8: 35,284,458 (GRCm39)	D258Y	probably damaging	Het
E2f1	A	T	2: 154,406,368 (GRCm39)	F103I	probably benign	Het
Elavl2	T	C	4: 91,149,055 (GRCm39)	Y248C	probably damaging	Het
Ephb3	T	C	16: 21,037,855 (GRCm39)	V310A	possibly damaging	Het
Erbin	A	G	13: 103,993,917 (GRCm39)		probably null	Het
Etv4	A	T	11: 101,666,167 (GRCm39)	H120Q	probably damaging	Het
Fcgbpl1	T	C	7: 27,839,608 (GRCm39)	F474L	probably benign	Het
Flot2	T	A	11: 77,940,314 (GRCm39)	C20*	probably null	Het
Fsip2	G	A	2: 82,821,262 (GRCm39)	G5665D	probably benign	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Glrp1	TTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTG	TTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTG	1: 88,431,066 (GRCm39)		probably benign	Het
Gm43302	A	T	5: 105,427,955 (GRCm39)	L202*	probably null	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Hnf1b	A	T	11: 83,746,863 (GRCm39)	M160L	probably damaging	Het
Inhbe	T	C	10: 127,186,470 (GRCm39)	T237A	possibly damaging	Het
Kdm5b	G	A	1: 134,549,836 (GRCm39)		probably null	Het
Kmt2c	A	T	5: 25,499,732 (GRCm39)		probably null	Het
Kyat3	A	G	3: 142,440,367 (GRCm39)	K364E	probably benign	Het
Lars1	T	A	18: 42,350,024 (GRCm39)	T927S	probably benign	Het
Mfap1b	A	T	2: 121,304,371 (GRCm39)	M8K	probably benign	Het
Mroh8	G	A	2: 157,070,576 (GRCm39)	P592S	possibly damaging	Het
Myo3b	A	T	2: 69,957,329 (GRCm39)	I185L	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or1x6	C	T	11: 50,939,297 (GRCm39)	A121V	probably damaging	Het
Or4c110	A	T	2: 88,832,540 (GRCm39)	L31M	probably benign	Het
Or51a24	T	C	7: 103,734,098 (GRCm39)	Y63C	probably benign	Het
Pcdha8	T	A	18: 37,126,787 (GRCm39)	V423E	probably damaging	Het
Pcdhb21	G	T	18: 37,648,772 (GRCm39)	V634L	probably benign	Het
Pde8a	T	C	7: 80,983,170 (GRCm39)	V791A	probably damaging	Het
Pds5a	A	G	5: 65,795,920 (GRCm39)	S657P	probably benign	Het
Pes1	CGGAGGAGGAGGAGGAGGAGGAGG	CGGAGGAGGAGGAGGAGGAGG	11: 3,927,719 (GRCm39)		probably benign	Het
Rad51d	A	G	11: 82,781,196 (GRCm39)	V17A	possibly damaging	Het
Sdc1	A	T	12: 8,841,743 (GRCm39)		probably null	Het
Sdcbp2	T	A	2: 151,429,057 (GRCm39)	I152N	probably damaging	Het
Slc4a4	G	T	5: 89,194,076 (GRCm39)	M141I	probably benign	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Spata6	T	C	4: 111,656,315 (GRCm39)	C320R	probably damaging	Het
Spata6l	T	C	19: 28,905,089 (GRCm39)	H325R	possibly damaging	Het
Ssu2	T	A	6: 112,357,957 (GRCm39)	T129S	probably damaging	Het
Stat5a	T	A	11: 100,771,409 (GRCm39)	W631R	probably damaging	Het
Sult1c2	T	A	17: 54,143,939 (GRCm39)	N122I	possibly damaging	Het
Tert	G	A	13: 73,787,362 (GRCm39)	V783I	probably damaging	Het
Ticam1	G	T	17: 56,578,117 (GRCm39)	T326K	probably benign	Het
Tmem63b	T	C	17: 45,980,888 (GRCm39)	M269V	possibly damaging	Het
Tmem86a	T	A	7: 46,702,794 (GRCm39)	V73E	possibly damaging	Het
Trpv4	G	A	5: 114,761,675 (GRCm39)	R818C	possibly damaging	Het
Tstd2	A	G	4: 46,135,542 (GRCm39)	S4P	probably benign	Het
Ttn	A	T	2: 76,644,715 (GRCm39)	V4686E	probably damaging	Het
Ubash3b	A	G	9: 40,954,769 (GRCm39)		probably null	Het
Usp31	A	G	7: 121,267,005 (GRCm39)		probably null	Het
Usp33	A	G	3: 152,089,824 (GRCm39)	E780G	possibly damaging	Het
Vapb	T	A	2: 173,613,336 (GRCm39)	Y78*	probably null	Het
Vps13b	G	A	15: 35,887,094 (GRCm39)	R3227Q	probably damaging	Het
Vps33a	A	T	5: 123,696,693 (GRCm39)	I320N	probably damaging	Het
Wnt5a	T	C	14: 28,244,727 (GRCm39)	C305R	probably damaging	Het
Zbtb38	A	G	9: 96,569,696 (GRCm39)	C463R	probably damaging	Het
Zc3h12d	G	A	10: 7,742,090 (GRCm39)	C263Y	probably damaging	Het
Zfp971	G	A	2: 177,675,526 (GRCm39)	R375Q	probably damaging	Het
Znrf1	T	A	8: 112,345,826 (GRCm39)		probably null	Het

Other mutations in Synpo2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Synpo2	APN	3	122,906,859 (GRCm39)	missense	probably damaging	1.00
IGL00742:Synpo2	APN	3	122,907,525 (GRCm39)	missense	probably damaging	1.00
IGL01890:Synpo2	APN	3	122,906,146 (GRCm39)	missense	probably damaging	1.00
IGL02268:Synpo2	APN	3	122,910,632 (GRCm39)	missense	probably damaging	1.00
IGL02323:Synpo2	APN	3	122,911,183 (GRCm39)	missense	probably benign	0.00
IGL02745:Synpo2	APN	3	122,907,261 (GRCm39)	missense	probably damaging	1.00
IGL03001:Synpo2	APN	3	122,873,604 (GRCm39)	missense	probably benign	0.00
IGL03177:Synpo2	APN	3	122,914,864 (GRCm39)	missense	probably damaging	1.00
IGL03336:Synpo2	APN	3	122,907,828 (GRCm39)	missense	possibly damaging	0.60
R0086:Synpo2	UTSW	3	122,910,753 (GRCm39)	nonsense	probably null
R0126:Synpo2	UTSW	3	122,873,511 (GRCm39)	missense	possibly damaging	0.71
R0227:Synpo2	UTSW	3	122,907,442 (GRCm39)	missense	probably benign	0.02
R0284:Synpo2	UTSW	3	122,873,383 (GRCm39)	nonsense	probably null
R0388:Synpo2	UTSW	3	122,873,546 (GRCm39)	missense	probably benign
R0457:Synpo2	UTSW	3	122,906,421 (GRCm39)	missense	probably damaging	1.00
R0483:Synpo2	UTSW	3	122,907,981 (GRCm39)	missense	probably damaging	1.00
R0615:Synpo2	UTSW	3	122,910,936 (GRCm39)	missense	probably damaging	1.00
R0646:Synpo2	UTSW	3	122,908,098 (GRCm39)	missense	probably damaging	1.00
R0666:Synpo2	UTSW	3	122,907,708 (GRCm39)	missense	probably damaging	0.98
R0743:Synpo2	UTSW	3	122,906,355 (GRCm39)	missense	probably benign	0.02
R0791:Synpo2	UTSW	3	122,906,835 (GRCm39)	missense	probably benign
R1531:Synpo2	UTSW	3	122,911,315 (GRCm39)	missense	probably benign	0.03
R1587:Synpo2	UTSW	3	122,908,047 (GRCm39)	missense	probably damaging	0.98
R1717:Synpo2	UTSW	3	122,906,203 (GRCm39)	missense	probably damaging	1.00
R1807:Synpo2	UTSW	3	122,873,906 (GRCm39)	missense	possibly damaging	0.71
R2114:Synpo2	UTSW	3	122,873,537 (GRCm39)	missense	probably benign	0.01
R2987:Synpo2	UTSW	3	122,910,622 (GRCm39)	missense	probably damaging	1.00
R3019:Synpo2	UTSW	3	122,907,228 (GRCm39)	missense	probably damaging	1.00
R3939:Synpo2	UTSW	3	122,908,239 (GRCm39)	missense	probably damaging	1.00
R4050:Synpo2	UTSW	3	122,907,927 (GRCm39)	missense	possibly damaging	0.81
R4119:Synpo2	UTSW	3	122,910,799 (GRCm39)	missense	probably damaging	1.00
R4669:Synpo2	UTSW	3	122,906,712 (GRCm39)	missense	probably damaging	1.00
R4724:Synpo2	UTSW	3	122,907,940 (GRCm39)	missense	probably damaging	1.00
R4825:Synpo2	UTSW	3	122,908,068 (GRCm39)	missense	probably damaging	0.98
R5152:Synpo2	UTSW	3	123,029,550 (GRCm39)	critical splice donor site	probably null
R5292:Synpo2	UTSW	3	122,907,709 (GRCm39)	missense	possibly damaging	0.51
R5701:Synpo2	UTSW	3	122,873,879 (GRCm39)	missense	probably damaging	1.00
R5712:Synpo2	UTSW	3	122,914,859 (GRCm39)	missense	probably damaging	1.00
R5730:Synpo2	UTSW	3	122,907,768 (GRCm39)	missense	probably benign	0.04
R5879:Synpo2	UTSW	3	122,907,946 (GRCm39)	missense	probably damaging	1.00
R5979:Synpo2	UTSW	3	122,911,060 (GRCm39)	missense	probably damaging	1.00
R6290:Synpo2	UTSW	3	122,910,701 (GRCm39)	missense	probably damaging	0.98
R6384:Synpo2	UTSW	3	122,906,698 (GRCm39)	nonsense	probably null
R6498:Synpo2	UTSW	3	122,873,881 (GRCm39)	splice site	probably null
R7123:Synpo2	UTSW	3	122,906,835 (GRCm39)	missense	probably benign
R7153:Synpo2	UTSW	3	122,906,053 (GRCm39)	makesense	probably null
R7233:Synpo2	UTSW	3	122,911,333 (GRCm39)	missense	probably benign	0.01
R7301:Synpo2	UTSW	3	122,907,702 (GRCm39)	missense	probably benign	0.10
R7318:Synpo2	UTSW	3	122,910,968 (GRCm39)	missense	probably benign
R7366:Synpo2	UTSW	3	122,907,690 (GRCm39)	missense	probably damaging	0.96
R7630:Synpo2	UTSW	3	122,873,681 (GRCm39)	missense	probably damaging	1.00
R7962:Synpo2	UTSW	3	123,029,635 (GRCm39)	missense	probably benign	0.09
R8068:Synpo2	UTSW	3	122,911,041 (GRCm39)	missense	possibly damaging	0.59
R8335:Synpo2	UTSW	3	122,908,183 (GRCm39)	missense	probably damaging	1.00
R9066:Synpo2	UTSW	3	122,911,133 (GRCm39)	missense	possibly damaging	0.66
R9269:Synpo2	UTSW	3	122,910,973 (GRCm39)	missense	probably benign	0.00
R9318:Synpo2	UTSW	3	122,873,705 (GRCm39)	missense	probably damaging	1.00
R9623:Synpo2	UTSW	3	122,908,047 (GRCm39)	missense	possibly damaging	0.68
R9685:Synpo2	UTSW	3	122,911,366 (GRCm39)	missense	probably damaging	1.00
Z1177:Synpo2	UTSW	3	122,906,659 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACCAAGTGTCCTTCCTGGGAG -3'
(R):5'- GTCATGTTCCAGCAAGTTCTG -3'

Sequencing Primer
(F):5'- TTCCTGGGAGCCAAGCATC -3'
(R):5'- ATGTTCCAGCAAGTTCTGTTTTC -3'

Posted On

2016-09-06