Mutagenetix > Incidental Mutation

Incidental Mutation 'R1708:Sntg2'

190247

Institutional Source

Beutler Lab

Gene Symbol

Sntg2

Ensembl Gene

ENSMUSG00000020672

Gene Name

syntrophin, gamma 2

Synonyms

2210008K22Rik

MMRRC Submission

039741-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R1708 (G1)

Quality Score

209

Status

Not validated

Chromosome

Chromosomal Location

30224481-30423374 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30423179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 17 (S17N)

Ref Sequence

ENSEMBL: ENSMUSP00000115942 (fasta)

Gene Model

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

AlphaFold

Q925E0

Predicted Effect

probably benign
Transcript: ENSMUST00000021004
AA Change: S17N

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000021004
Gene: ENSMUSG00000020672
AA Change: S17N

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

probably benign
Transcript: ENSMUST00000133324
AA Change: S17N

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000114245
Gene: ENSMUSG00000020672
AA Change: S17N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142046
AA Change: S17N

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115942
Gene: ENSMUSG00000020672
AA Change: S17N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000149710
AA Change: S17N

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000123332
Gene: ENSMUSG00000020672
AA Change: S17N

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: ENSMUST00000218489

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218723

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	A	T	6: 40,941,732 (GRCm39)	I4F	probably benign	Het
Aadacl4fm1	T	C	4: 144,246,511 (GRCm39)	V19A	probably benign	Het
Abca8a	A	T	11: 109,943,928 (GRCm39)	S1114T	probably damaging	Het
Adgre1	A	T	17: 57,708,974 (GRCm39)	Y55F	possibly damaging	Het
Alb	A	C	5: 90,611,910 (GRCm39)	D113A	possibly damaging	Het
Ankrd33b	C	T	15: 31,305,155 (GRCm39)	R203Q	probably damaging	Het
Aqp6	T	C	15: 99,500,543 (GRCm39)	V156A	possibly damaging	Het
AU018091	T	C	7: 3,206,184 (GRCm39)	S616G	probably damaging	Het
Cfd	T	A	10: 79,727,441 (GRCm39)	D68E	probably benign	Het
Cntn2	C	T	1: 132,446,936 (GRCm39)	A725T	probably damaging	Het
Copg2	A	C	6: 30,801,312 (GRCm39)	D373E	probably damaging	Het
Cyp2d11	T	C	15: 82,274,633 (GRCm39)	T315A	probably benign	Het
Cyp2j13	G	T	4: 95,950,304 (GRCm39)	N232K	probably damaging	Het
Cyp2j8	A	T	4: 96,387,832 (GRCm39)	F210I	probably damaging	Het
Dnah9	G	A	11: 65,805,980 (GRCm39)	T3373M	probably benign	Het
Eif2ak3	A	G	6: 70,864,790 (GRCm39)	K549E	probably damaging	Het
Epha3	C	T	16: 63,403,870 (GRCm39)	V744I	probably damaging	Het
Erich6	T	C	3: 58,523,868 (GRCm39)	S669G	probably benign	Het
Fam90a1a	A	T	8: 22,451,464 (GRCm39)	K108N	probably damaging	Het
Fat1	G	A	8: 45,477,829 (GRCm39)	V2292M	probably damaging	Het
Fibp	T	C	19: 5,513,822 (GRCm39)	C255R	probably null	Het
Fzd1	A	G	5: 4,805,791 (GRCm39)	V597A	possibly damaging	Het
Gm12790	G	A	4: 101,825,174 (GRCm39)	A80V	possibly damaging	Het
Gm2381	A	T	7: 42,469,649 (GRCm39)	N158K	probably benign	Het
Impg2	T	A	16: 56,085,441 (GRCm39)	D940E	probably benign	Het
Ints1	A	T	5: 139,748,594 (GRCm39)	V1071E	probably damaging	Het
Kat5	A	T	19: 5,659,507 (GRCm39)	Y44*	probably null	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Klra6	A	C	6: 129,999,677 (GRCm39)	L97*	probably null	Het
Ly6c2	C	T	15: 74,983,469 (GRCm39)		probably null	Het
Mon1a	G	A	9: 107,775,917 (GRCm39)	E12K	probably benign	Het
Myo3b	A	T	2: 70,075,729 (GRCm39)	K578*	probably null	Het
Myrip	A	T	9: 120,293,840 (GRCm39)	R778S	possibly damaging	Het
Ncoa4-ps	A	G	12: 119,225,968 (GRCm39)		noncoding transcript	Het
Or2w4	C	T	13: 21,795,240 (GRCm39)	A300T	probably damaging	Het
Or3a4	G	A	11: 73,944,814 (GRCm39)	T257I	probably damaging	Het
Or4c35	A	G	2: 89,808,382 (GRCm39)	R87G	probably benign	Het
Or52n4b	T	A	7: 108,143,781 (GRCm39)	F14L	probably benign	Het
Or5b121	T	C	19: 13,507,277 (GRCm39)	V80A	probably damaging	Het
Panx3	T	C	9: 37,572,687 (GRCm39)	I288V	probably benign	Het
Pcdh9	G	A	14: 94,125,741 (GRCm39)	P143L	probably damaging	Het
Pigc	T	A	1: 161,798,293 (GRCm39)	S92T	probably benign	Het
Pou3f2	C	A	4: 22,487,255 (GRCm39)	V293L	possibly damaging	Het
Rbm15	A	G	3: 107,238,536 (GRCm39)	S621P	probably damaging	Het
Rnf220	T	C	4: 117,347,083 (GRCm39)	S110G	probably benign	Het
Rnf38	A	T	4: 44,143,593 (GRCm39)	V115D	probably damaging	Het
Rps6ka2	A	G	17: 7,544,929 (GRCm39)	H347R	probably damaging	Het
Ryr2	T	C	13: 11,602,328 (GRCm39)		probably null	Het
Sema4f	G	T	6: 82,894,975 (GRCm39)	P407T	probably damaging	Het
Setbp1	T	C	18: 78,901,682 (GRCm39)	T662A	probably damaging	Het
Slc27a1	C	A	8: 72,037,274 (GRCm39)		probably null	Het
Slc41a2	T	A	10: 83,069,596 (GRCm39)	I519F	probably damaging	Het
Sptb	A	G	12: 76,659,348 (GRCm39)	L1184P	probably damaging	Het
Taf5l	G	A	8: 124,736,509 (GRCm39)	Q21*	probably null	Het
Tbc1d32	A	C	10: 56,027,865 (GRCm39)	S746A	possibly damaging	Het
Tdrd1	T	G	19: 56,830,721 (GRCm39)	S251R	probably benign	Het
Thap7	C	T	16: 17,346,814 (GRCm39)	R121Q	probably benign	Het
Tmem50a	A	G	4: 134,625,779 (GRCm39)	V146A	probably benign	Het
Tmprss15	T	C	16: 78,850,958 (GRCm39)	I327V	possibly damaging	Het
Tmt1a3	A	G	15: 100,233,150 (GRCm39)	N114D	probably damaging	Het
Ttc23	T	C	7: 67,316,924 (GRCm39)	I65T	probably damaging	Het
Vmn1r22	G	T	6: 57,877,481 (GRCm39)	H165Q	possibly damaging	Het
Vopp1	C	T	6: 57,739,497 (GRCm39)	R17H	probably damaging	Het
Vwa5a	A	G	9: 38,639,128 (GRCm39)	K337E	probably benign	Het
Wrap53	G	A	11: 69,454,761 (GRCm39)	R203*	probably null	Het
Zfp944	T	C	17: 22,558,026 (GRCm39)	Y407C	probably damaging	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
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
R3522:Sntg2	UTSW	12	30,362,566 (GRCm39)	missense	probably damaging	0.99
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'- GTGCCCCATGACCCAGATGTTAAAG -3'
(R):5'- TAGCCTTCCAACCCTAAGGGATGC -3'

Sequencing Primer
(F):5'- AGTGTTATCCACTATGCCCAGG -3'
(R):5'- GCATCTGAGCTTGTTTCAGC -3'

Posted On

2014-05-14