Mutagenetix > Incidental Mutation

Incidental Mutation 'R3522:Sntg2'

267566

Institutional Source

Beutler Lab

Gene Symbol

Sntg2

Ensembl Gene

ENSMUSG00000020672

Gene Name

syntrophin, gamma 2

Synonyms

2210008K22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R3522 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30224481-30423374 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30362566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 60 (V60A)

Ref Sequence

ENSEMBL: ENSMUSP00000115942 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021004] [ENSMUST00000133324] [ENSMUST00000142046] [ENSMUST00000149710]

AlphaFold

Q925E0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021004
AA Change: V60A

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000021004
Gene: ENSMUSG00000020672
AA Change: V60A

Domain	Start	End	E-Value	Type
PDZ	82	156	1.83e-17	SMART
low complexity region	159	183	N/A	INTRINSIC
PH	297	423	7.66e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125530

Predicted Effect

possibly damaging
Transcript: ENSMUST00000133324
AA Change: V60A

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114245
Gene: ENSMUSG00000020672
AA Change: V60A

Domain	Start	End	E-Value	Type
Blast:PH	13	70	9e-24	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000142046
AA Change: V60A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115942
Gene: ENSMUSG00000020672
AA Change: V60A

Domain	Start	End	E-Value	Type
Blast:PH	13	89	1e-23	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149710
AA Change: V60A

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123332
Gene: ENSMUSG00000020672
AA Change: V60A

Domain	Start	End	E-Value	Type
PDZ	82	156	1.83e-17	SMART
low complexity region	159	183	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156953

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218489

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218723

Meta Mutation Damage Score

0.1634

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd35	A	G	3: 96,592,378 (GRCm39)	E888G	probably damaging	Het
Arhgef10	T	C	8: 15,004,918 (GRCm39)	F150S	probably damaging	Het
Atp10d	G	T	5: 72,396,500 (GRCm39)	R235L	probably benign	Het
Cacna1b	A	G	2: 24,653,055 (GRCm39)	V2A	possibly damaging	Het
Cand1	A	T	10: 119,075,102 (GRCm39)	L15Q	probably benign	Het
Cavin3	C	A	7: 105,130,350 (GRCm39)	G154V	probably benign	Het
Ccdc73	A	T	2: 104,821,830 (GRCm39)	D593V	probably damaging	Het
Cdk5rap2	T	C	4: 70,168,647 (GRCm39)	K161E	probably damaging	Het
Chil4	A	T	3: 106,111,056 (GRCm39)	N279K	probably benign	Het
Chst13	T	G	6: 90,295,245 (GRCm39)	D56A	probably damaging	Het
Cnn1	C	A	9: 22,010,664 (GRCm39)	H5N	probably benign	Het
Cpsf4l	T	A	11: 113,593,319 (GRCm39)	K88N	probably damaging	Het
Ctnnbl1	G	T	2: 157,713,113 (GRCm39)		probably null	Het
Dnah7a	A	C	1: 53,657,275 (GRCm39)	F834V	probably damaging	Het
Fbxo41	A	G	6: 85,461,163 (GRCm39)	S182P	probably benign	Het
Fkbp5	T	C	17: 28,634,970 (GRCm39)	T180A	probably benign	Het
Flg2	T	A	3: 93,127,334 (GRCm39)	I2082N	unknown	Het
Gm4968	A	G	6: 127,210,725 (GRCm39)		noncoding transcript	Het
Gpc5	T	A	14: 116,761,747 (GRCm39)	H612Q	probably benign	Het
Gsg1	A	T	6: 135,218,251 (GRCm39)	V212D	probably damaging	Het
Hipk1	A	G	3: 103,651,430 (GRCm39)	V1111A	probably damaging	Het
Hormad1	A	T	3: 95,483,596 (GRCm39)	Q136L	probably benign	Het
Ifi35	T	A	11: 101,348,511 (GRCm39)	S147R	probably benign	Het
Iqca1l	A	G	5: 24,754,624 (GRCm39)		probably null	Het
Iqgap3	C	T	3: 87,998,089 (GRCm39)	A282V	probably null	Het
Jmy	T	C	13: 93,590,558 (GRCm39)	D515G	probably damaging	Het
Kctd10	G	A	5: 114,512,984 (GRCm39)	R64C	probably damaging	Het
Kidins220	T	C	12: 25,040,757 (GRCm39)	V121A	probably damaging	Het
Lcn3	G	A	2: 25,656,133 (GRCm39)	V63M	possibly damaging	Het
Lmx1b	T	A	2: 33,529,543 (GRCm39)	Y72F	probably benign	Het
Lrp1	T	C	10: 127,389,424 (GRCm39)	D3164G	probably damaging	Het
Mdh1b	C	T	1: 63,758,927 (GRCm39)	V222M	probably damaging	Het
Mst1	T	C	9: 107,958,702 (GRCm39)		probably benign	Het
Myo7b	C	A	18: 32,143,132 (GRCm39)	V189F	probably damaging	Het
Ndc1	T	C	4: 107,250,355 (GRCm39)	S533P	probably damaging	Het
Ndrg3	T	C	2: 156,785,947 (GRCm39)	D164G	probably damaging	Het
Nol11	C	T	11: 107,064,454 (GRCm39)	C500Y	possibly damaging	Het
Nsd3	A	G	8: 26,196,642 (GRCm39)	N1208D	probably benign	Het
Nup155	C	T	15: 8,186,162 (GRCm39)		probably benign	Het
Or5ak20	A	T	2: 85,183,347 (GRCm39)	C308S	probably benign	Het
Or6c38	A	G	10: 128,929,711 (GRCm39)	I44T	possibly damaging	Het
Or8b47	A	G	9: 38,435,081 (GRCm39)	T18A	probably damaging	Het
Or8b54	A	T	9: 38,687,016 (GRCm39)	D155V	possibly damaging	Het
Phf3	A	G	1: 30,844,684 (GRCm39)	L1425P	probably damaging	Het
Pla2r1	A	G	2: 60,279,250 (GRCm39)	Y777H	probably damaging	Het
Pld1	A	G	3: 28,085,396 (GRCm39)	E184G	probably damaging	Het
Plxna1	T	C	6: 89,314,335 (GRCm39)		probably null	Het
Ptgfrn	T	C	3: 100,950,718 (GRCm39)	E865G	probably damaging	Het
Ptpn13	G	T	5: 103,737,720 (GRCm39)		probably benign	Het
Pygb	G	T	2: 150,670,473 (GRCm39)	V763F	probably benign	Het
Ros1	A	C	10: 51,967,091 (GRCm39)	Y1705*	probably null	Het
Sec61a2	A	G	2: 5,898,027 (GRCm39)	F5L	probably benign	Het
Skint5	A	G	4: 113,614,102 (GRCm39)		probably null	Het
Sppl2a	A	G	2: 126,762,242 (GRCm39)	C280R	possibly damaging	Het
Srrm4	A	C	5: 116,584,603 (GRCm39)	M1R	probably null	Het
Sult1c2	T	C	17: 54,279,043 (GRCm39)	E91G	probably damaging	Het
Themis2	C	G	4: 132,512,906 (GRCm39)	R440P	probably damaging	Het
Tmem229a	A	G	6: 24,955,058 (GRCm39)	L232P	probably benign	Het
Trappc1	T	C	11: 69,215,248 (GRCm39)	F43L	probably damaging	Het
Trappc11	A	T	8: 47,951,708 (GRCm39)	Y982N	possibly damaging	Het
Trpv6	A	T	6: 41,604,339 (GRCm39)	M139K	probably damaging	Het
Txnrd3	A	G	6: 89,640,057 (GRCm39)		probably null	Het
Vmn1r184	T	A	7: 25,967,008 (GRCm39)	Y251*	probably null	Het
Vmn1r216	A	G	13: 23,283,544 (GRCm39)	N76D	possibly damaging	Het
Vmn1r71	C	A	7: 10,481,792 (GRCm39)	V233F	probably benign	Het
Vps13a	A	C	19: 16,743,857 (GRCm39)		probably benign	Het
Vwa5b2	A	G	16: 20,420,358 (GRCm39)	S756G	probably damaging	Het
Wdr36	T	A	18: 32,994,538 (GRCm39)		probably null	Het
Wdr86	A	G	5: 24,923,305 (GRCm39)	V129A	probably benign	Het
Zfyve9	A	G	4: 108,576,940 (GRCm39)	L47S	probably benign	Het

Other mutations in Sntg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Sntg2	APN	12	30,326,720 (GRCm39)	missense	probably benign	0.08
IGL00914:Sntg2	APN	12	30,307,956 (GRCm39)	intron	probably benign
IGL00950:Sntg2	APN	12	30,362,680 (GRCm39)	splice site	probably benign
IGL01106:Sntg2	APN	12	30,307,987 (GRCm39)	nonsense	probably null
IGL01732:Sntg2	APN	12	30,362,648 (GRCm39)	missense	probably damaging	0.99
IGL01987:Sntg2	APN	12	30,362,569 (GRCm39)	missense	probably damaging	1.00
IGL02138:Sntg2	APN	12	30,357,230 (GRCm39)	critical splice acceptor site	probably null
IGL02325:Sntg2	APN	12	30,245,542 (GRCm39)	missense	probably benign	0.08
IGL02619:Sntg2	APN	12	30,317,025 (GRCm39)	splice site	probably null
IGL02797:Sntg2	APN	12	30,276,891 (GRCm39)	missense	possibly damaging	0.93
IGL03176:Sntg2	APN	12	30,317,022 (GRCm39)	splice site	probably benign
PIT4445001:Sntg2	UTSW	12	30,362,571 (GRCm39)	missense	probably damaging	1.00
R0126:Sntg2	UTSW	12	30,251,260 (GRCm39)	splice site	probably benign
R0309:Sntg2	UTSW	12	30,276,772 (GRCm39)	missense	probably benign	0.03
R0614:Sntg2	UTSW	12	30,307,977 (GRCm39)	missense	possibly damaging	0.87
R1267:Sntg2	UTSW	12	30,295,127 (GRCm39)	missense	probably benign	0.42
R1546:Sntg2	UTSW	12	30,338,295 (GRCm39)	missense	probably damaging	1.00
R1696:Sntg2	UTSW	12	30,317,062 (GRCm39)	missense	probably damaging	1.00
R1708:Sntg2	UTSW	12	30,423,179 (GRCm39)	missense	possibly damaging	0.81
R1867:Sntg2	UTSW	12	30,286,650 (GRCm39)	missense	probably benign
R2256:Sntg2	UTSW	12	30,286,687 (GRCm39)	nonsense	probably null
R2895:Sntg2	UTSW	12	30,276,845 (GRCm39)	missense	probably benign	0.00
R3401:Sntg2	UTSW	12	30,338,171 (GRCm39)	splice site	probably benign
R4771:Sntg2	UTSW	12	30,326,658 (GRCm39)	splice site	probably null
R4814:Sntg2	UTSW	12	30,423,267 (GRCm39)	unclassified	probably benign
R5554:Sntg2	UTSW	12	30,308,040 (GRCm39)	missense	probably benign	0.08
R6056:Sntg2	UTSW	12	30,362,560 (GRCm39)	missense	probably benign	0.06
R6328:Sntg2	UTSW	12	30,308,013 (GRCm39)	missense	probably damaging	1.00
R6373:Sntg2	UTSW	12	30,308,040 (GRCm39)	missense	probably benign	0.08
R7314:Sntg2	UTSW	12	30,317,107 (GRCm39)	missense	probably benign	0.01
R7494:Sntg2	UTSW	12	30,279,633 (GRCm39)	missense	possibly damaging	0.89
R7571:Sntg2	UTSW	12	30,225,201 (GRCm39)	missense	probably damaging	0.99
R7749:Sntg2	UTSW	12	30,276,910 (GRCm39)	missense	probably benign	0.01
R9375:Sntg2	UTSW	12	30,293,343 (GRCm39)	critical splice acceptor site	probably null
R9616:Sntg2	UTSW	12	30,326,732 (GRCm39)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- TTGTAATGTACTCAGCTGGTACTTG -3'
(R):5'- AGAAATGTATGTGCACAGGTTAGC -3'

Sequencing Primer
(F):5'- ATGTACTCAGCTGGTACTTGTAGAC -3'
(R):5'- TATGTGCACAGGTTAGCAGGTAG -3'

Posted On

2015-02-18