Mutagenetix > Incidental Mutation

Incidental Mutation 'R2987:Synpo2'

257814

Institutional Source

Beutler Lab

Gene Symbol

Synpo2

Ensembl Gene

ENSMUSG00000050315

Gene Name

synaptopodin 2

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2987 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122870168-123029798 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122910622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 341 (H341R)

Ref Sequence

ENSEMBL: ENSMUSP00000102034 (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 damaging
Transcript: ENSMUST00000106426
AA Change: H341R

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

SMART Domains

Protein: ENSMUSP00000102034
Gene: ENSMUSG00000050315
AA Change: H341R

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 damaging
Transcript: ENSMUST00000106427
AA Change: H341R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102035
Gene: ENSMUSG00000050315
AA Change: H341R

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 damaging
Transcript: ENSMUST00000198584
AA Change: H341R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142508
Gene: ENSMUSG00000050315
AA Change: H341R

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: 99.4%
3x: 98.7%
10x: 97.2%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	T	C	5: 30,402,358 (GRCm39)	I557V	probably damaging	Het
Bag6	T	A	17: 35,364,661 (GRCm39)	L983*	probably null	Het
Clcn1	A	G	6: 42,275,784 (GRCm39)	Y302C	probably damaging	Het
Dlc1	A	T	8: 37,041,306 (GRCm39)	C1308S	probably damaging	Het
Ebna1bp2	A	G	4: 118,478,133 (GRCm39)	D2G	probably damaging	Het
Exoc6b	T	A	6: 84,828,929 (GRCm39)	K485I	probably damaging	Het
Galnt3	C	T	2: 65,914,585 (GRCm39)	E611K	probably benign	Het
Gm5901	A	G	7: 105,026,507 (GRCm39)	I92V	probably benign	Het
Kcnh8	A	T	17: 53,263,763 (GRCm39)	L753F	probably benign	Het
L3mbtl4	T	C	17: 68,666,513 (GRCm39)	S14P	possibly damaging	Het
Map4k4	A	G	1: 40,025,925 (GRCm39)	H305R	probably damaging	Het
Nid1	A	T	13: 13,674,258 (GRCm39)	Y879F	probably benign	Het
Nsf	A	T	11: 103,749,869 (GRCm39)		probably null	Het
Olfml2a	G	A	2: 38,837,306 (GRCm39)	V150M	probably damaging	Het
Or51a24	A	G	7: 103,734,077 (GRCm39)	V70A	probably benign	Het
Pkhd1	A	T	1: 20,174,823 (GRCm39)	D3744E	possibly damaging	Het
Pla1a	A	T	16: 38,228,104 (GRCm39)	C258S	probably damaging	Het
Plk2	A	T	13: 110,534,243 (GRCm39)	R274S	probably benign	Het
Sumf2	T	C	5: 129,875,925 (GRCm39)	L30P	possibly damaging	Het
Trbv12-1	G	A	6: 41,090,840 (GRCm39)	E71K	probably benign	Het
Usp17lc	T	C	7: 103,067,509 (GRCm39)	V268A	probably damaging	Het
Vmn1r36	A	T	6: 66,693,700 (GRCm39)	H21Q	probably benign	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
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
R5396:Synpo2	UTSW	3	122,911,331 (GRCm39)	nonsense	probably null
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'- TCCTGCATCTTTGGGGATAAAATG -3'
(R):5'- TTGCTCTGACAGGCTGAAGG -3'

Sequencing Primer
(F):5'- GCATCTTTGGGGATAAAATGAAGTTG -3'
(R):5'- GCTGAAGAGTGCAGGCTGC -3'

Posted On

2015-01-11