Mutagenetix > Incidental Mutation

Incidental Mutation 'R2437:Strip2'

249651

Institutional Source

Beutler Lab

Gene Symbol

Strip2

Ensembl Gene

ENSMUSG00000039629

Gene Name

striatin interacting protein 2

Synonyms

Myoscape, D330017J20Rik, Fam40b

MMRRC Submission

040398-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R2437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29917011-29959680 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 29941940 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046028] [ENSMUST00000115224] [ENSMUST00000115224] [ENSMUST00000151738]

AlphaFold

Q8C9H6

Predicted Effect

probably null
Transcript: ENSMUST00000046028

SMART Domains

Protein: ENSMUSP00000036477
Gene: ENSMUSG00000039629

Domain	Start	End	E-Value	Type
low complexity region	2	40	N/A	INTRINSIC
N1221	57	364	1.68e-132	SMART
low complexity region	376	394	N/A	INTRINSIC
low complexity region	398	419	N/A	INTRINSIC
DUF3402	466	822	4.98e-199	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000115224

SMART Domains

Protein: ENSMUSP00000110879
Gene: ENSMUSG00000039629

Domain	Start	End	E-Value	Type
low complexity region	2	40	N/A	INTRINSIC
N1221	57	364	1.68e-132	SMART
low complexity region	376	394	N/A	INTRINSIC
low complexity region	398	419	N/A	INTRINSIC
DUF3402	466	662	4.85e-24	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000115224

SMART Domains

Protein: ENSMUSP00000110879
Gene: ENSMUSG00000039629

Domain	Start	End	E-Value	Type
low complexity region	2	40	N/A	INTRINSIC
N1221	57	364	1.68e-132	SMART
low complexity region	376	394	N/A	INTRINSIC
low complexity region	398	419	N/A	INTRINSIC
DUF3402	466	662	4.85e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130969

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137068

Predicted Effect

probably null
Transcript: ENSMUST00000151738

SMART Domains

Protein: ENSMUSP00000119506
Gene: ENSMUSG00000039629

Domain	Start	End	E-Value	Type
low complexity region	2	40	N/A	INTRINSIC
N1221	57	364	1.68e-132	SMART
low complexity region	376	394	N/A	INTRINSIC
low complexity region	398	419	N/A	INTRINSIC
DUF3402	466	794	1.72e-161	SMART

Meta Mutation Damage Score

0.9495

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (75/75)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 148,031,075 (GRCm39)	*635W	probably null	Het
Anxa2	A	G	9: 69,397,046 (GRCm39)	Y317C	probably damaging	Het
Arhgef26	T	C	3: 62,340,002 (GRCm39)	S675P	probably damaging	Het
Bltp1	T	A	3: 37,012,834 (GRCm39)		probably null	Het
Camk2d	A	G	3: 126,628,277 (GRCm39)	N53S	probably damaging	Het
Carns1	A	T	19: 4,215,782 (GRCm39)	M800K	possibly damaging	Het
Ces1f	A	T	8: 93,996,767 (GRCm39)		probably null	Het
Chrne	T	A	11: 70,506,086 (GRCm39)	D426V	possibly damaging	Het
Cntfr	T	C	4: 41,671,035 (GRCm39)	T43A	probably damaging	Het
Cntn5	A	T	9: 10,048,758 (GRCm39)	C63*	probably null	Het
Col12a1	G	A	9: 79,599,501 (GRCm39)	T884I	probably damaging	Het
Dnah5	T	C	15: 28,307,537 (GRCm39)		probably null	Het
Dnajc2	A	T	5: 21,965,389 (GRCm39)	S537R	probably benign	Het
Dnajc25	T	C	4: 59,020,234 (GRCm39)	I100T	probably damaging	Het
Ephx1	C	A	1: 180,823,661 (GRCm39)	G149C	probably damaging	Het
Fam163b	G	T	2: 27,002,698 (GRCm39)	P100T	probably damaging	Het
Fbxl9	A	G	8: 106,039,675 (GRCm39)		probably null	Het
Fgd5	A	T	6: 92,039,850 (GRCm39)	R1017*	probably null	Het
Fibin	A	T	2: 110,192,848 (GRCm39)	L98Q	probably damaging	Het
Fndc3b	A	T	3: 27,505,481 (GRCm39)	L929H	probably damaging	Het
Frem1	T	A	4: 82,918,410 (GRCm39)	S512C	probably damaging	Het
Gm4922	T	A	10: 18,659,829 (GRCm39)	M298L	probably benign	Het
Gstm2	G	A	3: 107,891,369 (GRCm39)		probably benign	Het
Gtf3c2	A	G	5: 31,317,042 (GRCm39)		probably null	Het
Ibtk	A	C	9: 85,590,178 (GRCm39)	L1026V	probably benign	Het
Il9	T	A	13: 56,629,684 (GRCm39)		probably benign	Het
Inpp4a	T	C	1: 37,432,037 (GRCm39)	S146P	probably damaging	Het
Kcnab1	G	T	3: 65,264,435 (GRCm39)		probably benign	Het
Mgat4c	T	C	10: 102,224,436 (GRCm39)	S217P	probably damaging	Het
Mr1	T	C	1: 155,008,277 (GRCm39)	M233V	probably benign	Het
Ncoa2	G	A	1: 13,218,584 (GRCm39)	T1415I	probably damaging	Het
Oasl2	G	A	5: 115,049,357 (GRCm39)	D486N	probably benign	Het
Or1j14	A	T	2: 36,418,258 (GRCm39)	Y278F	probably damaging	Het
Or9a7	G	A	6: 40,521,856 (GRCm39)	T19I	probably benign	Het
Or9s27	T	C	1: 92,516,688 (GRCm39)	I212T	possibly damaging	Het
Pcnx4	T	C	12: 72,588,587 (GRCm39)	F132L	probably damaging	Het
Pde5a	T	A	3: 122,636,702 (GRCm39)	L717Q	probably damaging	Het
Peli2	A	T	14: 48,465,389 (GRCm39)		probably benign	Het
Phf14	A	G	6: 11,962,657 (GRCm39)	S435G	probably damaging	Het
Plekhg1	T	A	10: 3,913,564 (GRCm39)	H1095Q	probably damaging	Het
Plekhh2	A	G	17: 84,893,907 (GRCm39)		probably null	Het
Plekho1	T	G	3: 95,899,497 (GRCm39)	N99H	probably damaging	Het
Plxnc1	T	A	10: 94,742,395 (GRCm39)	K457N	probably benign	Het
Ppp1r3a	T	C	6: 14,718,322 (GRCm39)	E864G	probably benign	Het
Prkab2	T	A	3: 97,574,715 (GRCm39)	L237Q	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptger3	T	A	3: 157,273,207 (GRCm39)	C185S	probably damaging	Het
Ptprk	T	C	10: 28,230,709 (GRCm39)	Y267H	probably damaging	Het
Pum2	A	G	12: 8,794,654 (GRCm39)	I715V	probably benign	Het
R3hdm1	T	C	1: 128,114,573 (GRCm39)	V518A	probably damaging	Het
Rab3d	T	C	9: 21,827,147 (GRCm39)	I28V	probably damaging	Het
Rad54b	T	C	4: 11,606,272 (GRCm39)	L560P	probably damaging	Het
Rgs20	A	G	1: 5,140,370 (GRCm39)		probably null	Het
Sesn1	T	A	10: 41,781,315 (GRCm39)	L460H	probably damaging	Het
Slc39a14	A	G	14: 70,553,885 (GRCm39)		probably null	Het
Slco6c1	T	A	1: 96,990,201 (GRCm39)	H663L	probably benign	Het
Snx13	T	A	12: 35,132,926 (GRCm39)	C63S	probably benign	Het
Spmip4	T	A	6: 50,560,959 (GRCm39)	D212V	probably damaging	Het
Syncrip	A	G	9: 88,361,620 (GRCm39)		probably benign	Het
Taf15	A	G	11: 83,395,579 (GRCm39)		probably benign	Het
Tbc1d8	T	C	1: 39,444,368 (GRCm39)		probably null	Het
Tgm4	T	A	9: 122,877,614 (GRCm39)	C205*	probably null	Het
Tmem212	A	T	3: 27,940,628 (GRCm39)	L63Q	possibly damaging	Het
Tmem63a	G	A	1: 180,790,054 (GRCm39)		probably null	Het
Trpm5	C	A	7: 142,636,298 (GRCm39)	V525L	probably benign	Het
Ttn	A	G	2: 76,537,171 (GRCm39)	L34919P	probably damaging	Het
Ttn	T	C	2: 76,694,619 (GRCm39)		probably benign	Het
Tuba4a	T	C	1: 75,194,069 (GRCm39)	I4V	possibly damaging	Het
Ubr4	A	G	4: 139,200,853 (GRCm39)	D4679G	possibly damaging	Het
Usp2	T	G	9: 44,003,445 (GRCm39)	V448G	probably damaging	Het
Usp3	A	G	9: 66,453,024 (GRCm39)		probably null	Het
Zfp341	T	A	2: 154,470,721 (GRCm39)	V246E	probably damaging	Het

Other mutations in Strip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00472:Strip2	APN	6	29,931,213 (GRCm39)	missense	probably benign	0.04
IGL01357:Strip2	APN	6	29,939,166 (GRCm39)	splice site	probably benign
IGL01636:Strip2	APN	6	29,931,192 (GRCm39)	missense	probably benign	0.06
IGL01959:Strip2	APN	6	29,928,553 (GRCm39)	missense	probably damaging	0.99
IGL01961:Strip2	APN	6	29,928,426 (GRCm39)	splice site	probably benign
IGL02089:Strip2	APN	6	29,917,179 (GRCm39)	unclassified	probably benign
1mM(1):Strip2	UTSW	6	29,955,630 (GRCm39)	missense	probably damaging	1.00
R0079:Strip2	UTSW	6	29,920,532 (GRCm39)	critical splice donor site	probably null
R0331:Strip2	UTSW	6	29,926,559 (GRCm39)	missense	probably benign	0.44
R0367:Strip2	UTSW	6	29,937,650 (GRCm39)	missense	possibly damaging	0.90
R0592:Strip2	UTSW	6	29,931,209 (GRCm39)	missense	probably benign	0.28
R1087:Strip2	UTSW	6	29,927,633 (GRCm39)	missense	probably damaging	0.99
R1390:Strip2	UTSW	6	29,929,828 (GRCm39)	missense	probably damaging	1.00
R1758:Strip2	UTSW	6	29,941,940 (GRCm39)	critical splice donor site	probably null
R2213:Strip2	UTSW	6	29,931,147 (GRCm39)	missense	probably damaging	0.99
R2900:Strip2	UTSW	6	29,939,034 (GRCm39)	critical splice acceptor site	probably null
R3892:Strip2	UTSW	6	29,917,074 (GRCm39)	unclassified	probably benign
R4010:Strip2	UTSW	6	29,955,584 (GRCm39)	missense	possibly damaging	0.66
R4435:Strip2	UTSW	6	29,925,049 (GRCm39)	missense	probably benign	0.06
R4807:Strip2	UTSW	6	29,925,092 (GRCm39)	nonsense	probably null
R5015:Strip2	UTSW	6	29,931,265 (GRCm39)	missense	probably benign	0.03
R5080:Strip2	UTSW	6	29,945,592 (GRCm39)	missense	probably damaging	0.99
R5484:Strip2	UTSW	6	29,917,154 (GRCm39)	unclassified	probably benign
R5502:Strip2	UTSW	6	29,927,623 (GRCm39)	missense	probably benign	0.23
R5899:Strip2	UTSW	6	29,956,957 (GRCm39)	utr 3 prime	probably benign
R6004:Strip2	UTSW	6	29,926,570 (GRCm39)	missense	probably damaging	0.98
R6479:Strip2	UTSW	6	29,944,496 (GRCm39)	splice site	probably null
R6835:Strip2	UTSW	6	29,941,916 (GRCm39)	missense	probably damaging	1.00
R7068:Strip2	UTSW	6	29,932,207 (GRCm39)	missense	probably benign	0.03
R7073:Strip2	UTSW	6	29,941,911 (GRCm39)	missense	possibly damaging	0.95
R7088:Strip2	UTSW	6	29,920,532 (GRCm39)	critical splice donor site	probably null
R7231:Strip2	UTSW	6	29,944,486 (GRCm39)	missense	probably damaging	0.96
R7399:Strip2	UTSW	6	29,927,612 (GRCm39)	missense	possibly damaging	0.94
R7813:Strip2	UTSW	6	29,923,912 (GRCm39)	critical splice acceptor site	probably null
R7827:Strip2	UTSW	6	29,923,928 (GRCm39)	missense	probably benign	0.18
R8354:Strip2	UTSW	6	29,920,531 (GRCm39)	critical splice donor site	probably null
R8723:Strip2	UTSW	6	29,941,863 (GRCm39)	missense	probably damaging	1.00
R8750:Strip2	UTSW	6	29,931,815 (GRCm39)	missense	probably damaging	0.96
R8793:Strip2	UTSW	6	29,956,815 (GRCm39)	missense	probably benign	0.27
R8843:Strip2	UTSW	6	29,923,968 (GRCm39)	missense	probably benign	0.44
R9175:Strip2	UTSW	6	29,933,035 (GRCm39)	missense	probably benign	0.01
R9336:Strip2	UTSW	6	29,931,824 (GRCm39)	missense	probably benign	0.03
R9381:Strip2	UTSW	6	29,927,333 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- CCATTTCAGAGACTGACAGACTGA -3'
(R):5'- TTTAAAAGCTCTAAGAAAGGAGGGAC -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'

Posted On

2014-11-12