Mutagenetix > Incidental Mutation

Incidental Mutation 'R1531:Synpo2'

166177

Institutional Source

Beutler Lab

Gene Symbol

Synpo2

Ensembl Gene

ENSMUSG00000050315

Gene Name

synaptopodin 2

Synonyms

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

MMRRC Submission

039570-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1531 (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 122911315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 110 (E110G)

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 benign
Transcript: ENSMUST00000106426
AA Change: E110G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000102034
Gene: ENSMUSG00000050315
AA Change: E110G

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 benign
Transcript: ENSMUST00000106427
AA Change: E110G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102035
Gene: ENSMUSG00000050315
AA Change: E110G

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 benign
Transcript: ENSMUST00000198584
AA Change: E110G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142508
Gene: ENSMUSG00000050315
AA Change: E110G

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: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtpbp1	T	A	13: 59,648,448 (GRCm39)		probably null	Het
Aldh3b2	T	G	19: 4,027,543 (GRCm39)	F28C	probably damaging	Het
Apaf1	T	C	10: 90,890,383 (GRCm39)	N540S	probably damaging	Het
Apob	T	C	12: 8,047,880 (GRCm39)	I953T	possibly damaging	Het
Arhgef1	A	G	7: 24,624,423 (GRCm39)	T816A	probably damaging	Het
Arid4a	T	A	12: 71,122,779 (GRCm39)	F1053L	probably benign	Het
Atxn1l	A	C	8: 110,458,691 (GRCm39)	F524V	probably damaging	Het
Cad	T	A	5: 31,233,563 (GRCm39)	M1874K	probably benign	Het
Ccdc40	G	A	11: 119,154,015 (GRCm39)	V1096I	probably benign	Het
Ccdc93	A	G	1: 121,408,551 (GRCm39)	D358G	probably benign	Het
Cd96	T	C	16: 45,938,169 (GRCm39)	T99A	probably benign	Het
Cdc42ep3	A	T	17: 79,642,473 (GRCm39)	M149K	probably benign	Het
Cgas	A	G	9: 78,349,763 (GRCm39)	Y200H	probably damaging	Het
Cog4	A	G	8: 111,606,353 (GRCm39)	E613G	probably benign	Het
Crebbp	A	T	16: 3,902,381 (GRCm39)	I2286N	probably benign	Het
Csf1	T	C	3: 107,655,654 (GRCm39)	E459G	possibly damaging	Het
Csrp2	A	T	10: 110,771,066 (GRCm39)	Y57F	probably benign	Het
Ctdspl	C	T	9: 118,869,650 (GRCm39)	P244L	probably damaging	Het
Cyp2c29	A	G	19: 39,313,412 (GRCm39)	R303G	probably damaging	Het
Cyp4a10	C	A	4: 115,375,632 (GRCm39)	Y38*	probably null	Het
Dmgdh	T	A	13: 93,880,919 (GRCm39)	I783N	probably damaging	Het
Efcc1	G	A	6: 87,708,148 (GRCm39)	E92K	probably benign	Het
Eif2ak4	T	A	2: 118,273,691 (GRCm39)	L872H	probably damaging	Het
Elp2	T	A	18: 24,764,461 (GRCm39)	S603T	probably benign	Het
Eml2	T	A	7: 18,930,179 (GRCm39)	L300H	probably damaging	Het
Esp3	A	G	17: 40,946,827 (GRCm39)	K50R	possibly damaging	Het
Esrp1	A	G	4: 11,379,375 (GRCm39)	F136L	probably damaging	Het
Exoc1	T	A	5: 76,707,011 (GRCm39)	D497E	probably damaging	Het
Fat3	A	G	9: 15,908,761 (GRCm39)	S2414P	probably damaging	Het
Foxj3	C	T	4: 119,477,398 (GRCm39)	P369S	unknown	Het
Gkn2	G	T	6: 87,352,921 (GRCm39)		probably null	Het
Gm17333	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	16: 77,649,766 (GRCm39)		noncoding transcript	Het
Gm21905	A	T	5: 68,103,724 (GRCm39)		probably benign	Het
Grhl1	T	A	12: 24,632,962 (GRCm39)		probably null	Het
Grk6	A	G	13: 55,599,967 (GRCm39)	Y221C	probably damaging	Het
Hcrtr1	T	A	4: 130,024,720 (GRCm39)	K389*	probably null	Het
Hk1	G	A	10: 62,120,563 (GRCm39)	R545C	probably damaging	Het
Hsp90b1	A	T	10: 86,532,659 (GRCm39)	I339N	probably benign	Het
Ikzf3	T	C	11: 98,381,272 (GRCm39)	R103G	probably damaging	Het
Itgad	A	C	7: 127,777,542 (GRCm39)	I141L	probably benign	Het
Jmjd6	T	A	11: 116,733,266 (GRCm39)	Y137F	probably benign	Het
Kcna1	A	G	6: 126,619,030 (GRCm39)	V430A	probably benign	Het
Kel	A	G	6: 41,665,560 (GRCm39)	V520A	probably damaging	Het
Klhl41	G	A	2: 69,501,084 (GRCm39)	V182I	probably benign	Het
Ldhb	C	A	6: 142,447,121 (GRCm39)	M64I	probably benign	Het
Lrrc23	A	G	6: 124,753,077 (GRCm39)	S190P	possibly damaging	Het
Mboat2	T	C	12: 25,009,029 (GRCm39)	V445A	probably benign	Het
Mlycd	G	A	8: 120,128,258 (GRCm39)	W188*	probably null	Het
Mpp3	C	T	11: 101,899,475 (GRCm39)	E349K	probably benign	Het
Mtres1	A	G	10: 43,401,316 (GRCm39)	V211A	probably benign	Het
Myh4	A	G	11: 67,141,366 (GRCm39)	M780V	probably benign	Het
Myh6	G	A	14: 55,193,963 (GRCm39)	R809C	probably damaging	Het
Mylip	G	A	13: 45,560,046 (GRCm39)	V161M	possibly damaging	Het
Nrp1	G	A	8: 129,152,450 (GRCm39)	V220I	probably null	Het
Nup210	A	T	6: 91,011,823 (GRCm39)	N455K	probably benign	Het
Or14j10	A	T	17: 37,935,243 (GRCm39)	Y94*	probably null	Het
Or51f1d	C	A	7: 102,700,795 (GRCm39)	Q97K	probably benign	Het
Pbld2	G	T	10: 62,889,732 (GRCm39)		probably null	Het
Pclo	C	G	5: 14,571,917 (GRCm39)	P434R	probably damaging	Het
Pdlim3	A	G	8: 46,349,800 (GRCm39)	K37E	probably damaging	Het
Prkdc	T	A	16: 15,589,970 (GRCm39)	I2611N	probably benign	Het
Prr12	T	C	7: 44,677,954 (GRCm39)	D2019G	unknown	Het
Rab27a	A	G	9: 73,002,685 (GRCm39)	T205A	probably benign	Het
Rcan3	A	G	4: 135,152,595 (GRCm39)	L42P	probably damaging	Het
Rchy1	T	C	5: 92,103,474 (GRCm39)		probably null	Het
Sema6a	T	C	18: 47,382,066 (GRCm39)	H827R	probably damaging	Het
Sertad4	A	G	1: 192,533,258 (GRCm39)		probably null	Het
Smarcd1	T	A	15: 99,605,264 (GRCm39)	C282S	probably damaging	Het
Speg	A	G	1: 75,377,866 (GRCm39)	T769A	possibly damaging	Het
Syne1	T	A	10: 5,297,875 (GRCm39)	K1141*	probably null	Het
Tg	T	A	15: 66,722,351 (GRCm39)	D333E	probably benign	Het
Tmem132c	A	G	5: 127,436,955 (GRCm39)	Y148C	probably damaging	Het
Tmem215	T	A	4: 40,473,965 (GRCm39)	V14E	probably damaging	Het
Tmem229b	A	G	12: 79,011,685 (GRCm39)	L82P	probably damaging	Het
Togaram1	A	G	12: 65,013,039 (GRCm39)	T97A	probably benign	Het
Trappc9	G	A	15: 72,565,397 (GRCm39)	R965*	probably null	Het
Trio	T	C	15: 27,833,071 (GRCm39)	I104V	probably benign	Het
Trp73	A	G	4: 154,148,352 (GRCm39)	F354S	probably benign	Het
Ttyh2	T	C	11: 114,577,278 (GRCm39)	L63P	probably damaging	Het
Ulk4	G	C	9: 120,873,841 (GRCm39)	P1197A	probably damaging	Het
Vmn1r176	T	C	7: 23,534,536 (GRCm39)	M206V	possibly damaging	Het
Vps8	T	A	16: 21,285,226 (GRCm39)	Y402*	probably null	Het
Zbtb41	A	G	1: 139,350,931 (GRCm39)	I15V	probably benign	Het
Zc3hav1	T	C	6: 38,284,170 (GRCm39)	I982V	possibly damaging	Het
Zmynd19	T	A	2: 24,848,123 (GRCm39)	N106K	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
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
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'- TCTTCAGCCTTCAGCCTGTCAGAG -3'
(R):5'- GCCCTGTCATGTTCCAGCAAGTTC -3'

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

Posted On

2014-04-13