Mutagenetix > Incidental Mutation

Incidental Mutation 'R6328:Sntg2'

510822

Institutional Source

Beutler Lab

Gene Symbol

Sntg2

Ensembl Gene

ENSMUSG00000020672

Gene Name

syntrophin, gamma 2

Synonyms

2210008K22Rik

MMRRC Submission

044482-MU

Accession Numbers

Essential gene?

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

Stock #

R6328 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30224481-30423374 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 30308013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 224 (L224R)

Ref Sequence

ENSEMBL: ENSMUSP00000021004 (fasta)

Gene Model

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

AlphaFold

Q925E0

Predicted Effect

probably damaging
Transcript: ENSMUST00000021004
AA Change: L224R

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

SMART Domains

Protein: ENSMUSP00000021004
Gene: ENSMUSG00000020672
AA Change: L224R

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

probably benign
Transcript: ENSMUST00000133324

SMART Domains

Protein: ENSMUSP00000114245
Gene: ENSMUSG00000020672

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

Predicted Effect

probably benign
Transcript: ENSMUST00000142046

SMART Domains

Protein: ENSMUSP00000115942
Gene: ENSMUSG00000020672

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

Predicted Effect

probably benign
Transcript: ENSMUST00000149710

SMART Domains

Protein: ENSMUSP00000123332
Gene: ENSMUSG00000020672

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

Meta Mutation Damage Score

0.5572

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (57/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	T	16: 8,420,300 (GRCm39)		probably benign	Het
Abcb10	G	A	8: 124,688,756 (GRCm39)	R507W	probably damaging	Het
Actg1	T	C	11: 120,238,586 (GRCm39)	D80G	possibly damaging	Het
Actr5	A	G	2: 158,477,264 (GRCm39)	D405G	possibly damaging	Het
Ahnak	C	T	19: 8,984,512 (GRCm39)	T1932I	probably benign	Het
Ankk1	T	A	9: 49,327,371 (GRCm39)	T603S	possibly damaging	Het
Atp13a3	A	T	16: 30,155,053 (GRCm39)	F964I	probably damaging	Het
Atp6v1g3	A	G	1: 138,215,570 (GRCm39)	T77A	probably benign	Het
Bccip	A	G	7: 133,319,503 (GRCm39)	H198R	probably damaging	Het
Bsx	A	T	9: 40,785,519 (GRCm39)	R16W	probably damaging	Het
Ccdc88b	C	T	19: 6,826,406 (GRCm39)	R1103Q	probably damaging	Het
Cd59a	A	C	2: 103,941,103 (GRCm39)	Y27S	probably damaging	Het
Cdk20	A	G	13: 64,584,413 (GRCm39)	H162R	probably damaging	Het
Col6a2	C	T	10: 76,450,212 (GRCm39)	E240K	possibly damaging	Het
Ddr2	A	G	1: 169,814,634 (GRCm39)	V603A	possibly damaging	Het
Dgkz	A	G	2: 91,772,980 (GRCm39)	V359A	probably benign	Het
Dis3l2	T	A	1: 86,782,153 (GRCm39)	S223T	probably benign	Het
Dpysl4	A	G	7: 138,679,734 (GRCm39)	S535G	probably benign	Het
Dsp	A	T	13: 38,380,982 (GRCm39)	K1977*	probably null	Het
Dync2h1	A	T	9: 7,165,717 (GRCm39)	S515T	probably benign	Het
Epg5	A	G	18: 78,072,179 (GRCm39)	E2397G	possibly damaging	Het
Fam83d	G	A	2: 158,627,096 (GRCm39)	G262S	probably damaging	Het
Frmd4a	A	T	2: 4,595,509 (GRCm39)	T477S	probably damaging	Het
Gbp3	A	G	3: 142,274,819 (GRCm39)	E382G	probably benign	Het
Gltp	A	T	5: 114,808,572 (GRCm39)	C157S	possibly damaging	Het
Grb10	A	G	11: 11,887,905 (GRCm39)	S378P	probably damaging	Het
Gulo	G	T	14: 66,240,080 (GRCm39)	T126K	probably damaging	Het
H2-M10.6	T	A	17: 37,124,836 (GRCm39)	M251K	probably damaging	Het
Hecw1	T	C	13: 14,422,205 (GRCm39)	D967G	possibly damaging	Het
Htr3b	A	T	9: 48,858,933 (GRCm39)	D68E	probably damaging	Het
Igkv5-39	G	T	6: 69,877,489 (GRCm39)	S89*	probably null	Het
Kctd4	C	A	14: 76,200,037 (GRCm39)		probably benign	Het
Lmna	T	C	3: 88,393,813 (GRCm39)	Q255R	probably damaging	Het
Lsmem1	A	G	12: 40,230,656 (GRCm39)	I82T	possibly damaging	Het
Lyg2	T	A	1: 37,950,194 (GRCm39)	M45L	probably benign	Het
Myo5b	G	A	18: 74,750,064 (GRCm39)	A176T	probably damaging	Het
Nudt5	A	T	2: 5,869,248 (GRCm39)	K158I	possibly damaging	Het
Nufip1	C	T	14: 76,348,494 (GRCm39)	P41L	possibly damaging	Het
Or4f14b	A	T	2: 111,775,739 (GRCm39)	W21R	probably null	Het
Or52z13	A	T	7: 103,247,073 (GRCm39)	E183D	probably damaging	Het
Pcp2	T	C	8: 3,674,887 (GRCm39)	D22G	probably damaging	Het
Pdk2	G	C	11: 94,930,228 (GRCm39)	N69K	possibly damaging	Het
Pdlim7	G	T	13: 55,655,905 (GRCm39)		probably benign	Het
Ptprc	C	A	1: 138,041,416 (GRCm39)	E148*	probably null	Het
Rassf5	A	T	1: 131,108,405 (GRCm39)	V225E	probably damaging	Het
Rbm6	A	T	9: 107,664,458 (GRCm39)	M725K	probably benign	Het
Scn1a	T	A	2: 66,103,660 (GRCm39)	I1867F	probably damaging	Het
Sdk2	T	A	11: 113,684,581 (GRCm39)	Q1960L	probably damaging	Het
Setx	A	G	2: 29,064,474 (GRCm39)		probably benign	Het
Sgo2b	T	A	8: 64,381,345 (GRCm39)	R496*	probably null	Het
Slco1a1	C	T	6: 141,878,176 (GRCm39)	V222I	probably damaging	Het
Syt16	C	A	12: 74,313,467 (GRCm39)	C464*	probably null	Het
Tapbpl	T	A	6: 125,201,881 (GRCm39)	S420C	probably benign	Het
Tax1bp1	A	G	6: 52,723,694 (GRCm39)	E528G	probably benign	Het
Tmem168	T	C	6: 13,602,710 (GRCm39)	T219A	probably benign	Het
Zfp180	T	C	7: 23,804,981 (GRCm39)	F467L	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
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
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
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'- TTCGGCACTTCCTCAAATGC -3'
(R):5'- TTTCATCAGTGGAAGTGGGC -3'

Sequencing Primer
(F):5'- GAGACAATGCCTATGCCTGC -3'
(R):5'- TCAGTGGAAGTGGGCTGAGC -3'

Posted On

2018-04-02