Mutagenetix > Incidental Mutation

Incidental Mutation 'R7399:Strip2'

574022

Institutional Source

Beutler Lab

Gene Symbol

Strip2

Ensembl Gene

ENSMUSG00000039629

Gene Name

striatin interacting protein 2

Synonyms

Fam40b, D330017J20Rik

MMRRC Submission

045481-MU

Accession Numbers

Genbank: NM_177204.3, NM_001037740.1; Ensembl: ENSMUST00000046028

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R7399 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29917012-29959681 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29927613 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 219 (M219K)

Ref Sequence

ENSEMBL: ENSMUSP00000036477 (fasta)

Gene Model

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

AlphaFold

Q8C9H6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046028
AA Change: M219K

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036477
Gene: ENSMUSG00000039629
AA Change: M219K

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 damaging
Transcript: ENSMUST00000115224
AA Change: M219K

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110879
Gene: ENSMUSG00000039629
AA Change: M219K

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

possibly damaging
Transcript: ENSMUST00000151738
AA Change: M219K

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119506
Gene: ENSMUSG00000039629
AA Change: M219K

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

0.7299

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (74/75)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,260,679 (GRCm38)	V801G	possibly damaging	Het
Actbl2	T	A	13: 111,255,593 (GRCm38)	M154K	probably benign	Het
Adam7	A	T	14: 68,504,466 (GRCm38)		probably null	Het
Arfgef1	T	A	1: 10,180,897 (GRCm38)	T888S	probably benign	Het
AW554918	C	T	18: 25,169,060 (GRCm38)	P10L	possibly damaging	Het
Bcap29	A	G	12: 31,630,882 (GRCm38)	I35T	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857 (GRCm38)	254	probably null	Het
C87499	C	A	4: 88,627,965 (GRCm38)	R380L	probably benign	Het
Cdc25b	A	G	2: 131,194,654 (GRCm38)	D458G	probably damaging	Het
Cdc42bpb	T	C	12: 111,305,667 (GRCm38)	K1104R	probably benign	Het
Cep89	A	G	7: 35,438,378 (GRCm38)	N729S	probably damaging	Het
Clec4a4	T	A	6: 122,991,829 (GRCm38)	M51K	possibly damaging	Het
Dcdc2b	A	G	4: 129,609,629 (GRCm38)	L270P	probably damaging	Het
Dennd5b	G	T	6: 149,036,483 (GRCm38)	H639N	probably damaging	Het
Dnah11	T	C	12: 118,125,785 (GRCm38)	E1182G	probably damaging	Het
Dnah11	T	G	12: 118,027,477 (GRCm38)	T2385P	probably benign	Het
Dok7	T	C	5: 35,066,471 (GRCm38)	V81A	probably damaging	Het
Dtx1	T	A	5: 120,682,393 (GRCm38)	M494L	possibly damaging	Het
Foxj1	A	T	11: 116,332,254 (GRCm38)	L241Q	possibly damaging	Het
Gbp10	G	A	5: 105,236,149 (GRCm38)		probably benign	Het
Hnmt	T	A	2: 24,003,880 (GRCm38)	T201S	probably benign	Het
Jup	G	T	11: 100,378,351 (GRCm38)	T412K	possibly damaging	Het
Kcnh2	G	A	5: 24,322,059 (GRCm38)	S954F	probably damaging	Het
Klhdc7b	A	C	15: 89,388,644 (GRCm38)	K585T	possibly damaging	Het
Klk7	T	A	7: 43,812,000 (GRCm38)	S14T	probably benign	Het
Lama4	G	A	10: 39,047,948 (GRCm38)	E451K	probably damaging	Het
Ldhb	A	G	6: 142,495,673 (GRCm38)	C164R	probably damaging	Het
Malrd1	G	A	2: 15,610,090 (GRCm38)	D239N		Het
Mgam	T	A	6: 40,666,854 (GRCm38)	V572E	probably damaging	Het
Mrgprb2	G	T	7: 48,552,142 (GRCm38)	N278K	probably damaging	Het
Msto1	A	G	3: 88,911,823 (GRCm38)	Y206H	probably damaging	Het
Myo6	A	G	9: 80,262,291 (GRCm38)	S467G	unknown	Het
Mysm1	T	A	4: 94,961,727 (GRCm38)	I447L	probably benign	Het
Nav3	T	C	10: 109,852,934 (GRCm38)	E494G	possibly damaging	Het
Nol10	T	G	12: 17,402,173 (GRCm38)	V376G	probably damaging	Het
Nup205	T	A	6: 35,214,676 (GRCm38)	I1032N	probably damaging	Het
Olfr1002	T	A	2: 85,647,424 (GRCm38)	D299V	possibly damaging	Het
Olfr1100	G	A	2: 86,978,157 (GRCm38)	T213I	probably benign	Het
Olfr1170	A	T	2: 88,225,022 (GRCm38)	Y3*	probably null	Het
Olfr1450	A	G	19: 12,954,447 (GRCm38)	N286S	probably damaging	Het
Olfr449	T	G	6: 42,838,746 (GRCm38)	Y288*	probably null	Het
Olfr455	A	G	6: 42,538,728 (GRCm38)	F98S	possibly damaging	Het
Olfr617	A	T	7: 103,584,381 (GRCm38)	I120L	possibly damaging	Het
Olfr782	A	T	10: 129,350,557 (GRCm38)		probably benign	Het
Olfr996	A	G	2: 85,579,296 (GRCm38)	D19G	probably benign	Het
Oog2	A	G	4: 144,195,281 (GRCm38)	K254E	probably benign	Het
Osbpl11	T	A	16: 33,236,279 (GRCm38)	D694E	probably benign	Het
Pcm1	T	A	8: 41,293,510 (GRCm38)	Y1210N	probably benign	Het
Pdxk	T	C	10: 78,440,863 (GRCm38)	M293V	probably benign	Het
Plcb3	T	C	19: 6,962,867 (GRCm38)	I451V	probably benign	Het
Plekhm2	A	G	4: 141,634,376 (GRCm38)	F272S	probably damaging	Het
Ptgdr	A	T	14: 44,858,232 (GRCm38)		probably null	Het
Ptprf	C	T	4: 118,226,523 (GRCm38)	V788I	probably benign	Het
Ralbp1	C	T	17: 65,854,148 (GRCm38)	V467I	probably benign	Het
Ralgds	A	C	2: 28,543,655 (GRCm38)	Q229P	possibly damaging	Het
Recql	T	C	6: 142,374,884 (GRCm38)	D146G	probably damaging	Het
Reln	T	C	5: 22,051,367 (GRCm38)	N493S	probably damaging	Het
Rfxank	C	T	8: 70,135,286 (GRCm38)		probably null	Het
Scn5a	A	T	9: 119,486,530 (GRCm38)	M1704K	probably damaging	Het
Slc7a7	G	T	14: 54,374,268 (GRCm38)	A316E	possibly damaging	Het
Slco1a6	A	T	6: 142,091,068 (GRCm38)	C538S	probably benign	Het
Spert	A	G	14: 75,592,637 (GRCm38)	S39P	probably benign	Het
Stard6	T	C	18: 70,498,647 (GRCm38)		probably null	Het
Tcam1	T	C	11: 106,284,085 (GRCm38)	V122A	probably damaging	Het
Tha1	A	G	11: 117,869,690 (GRCm38)	V236A	possibly damaging	Het
Tmem201	A	T	4: 149,731,097 (GRCm38)	I132N	possibly damaging	Het
Tnc	T	C	4: 64,020,657 (GRCm38)		probably benign	Het
Vmn1r42	T	C	6: 89,845,513 (GRCm38)	T25A	probably benign	Het
Vmn2r94	T	A	17: 18,244,503 (GRCm38)		probably null	Het
Wdfy4	A	C	14: 33,068,906 (GRCm38)	V2188G		Het
Zfp623	T	C	15: 75,947,398 (GRCm38)	S68P	probably damaging	Het
Zfp950	A	T	19: 61,119,155 (GRCm38)	C497S	probably damaging	Het
Zkscan2	C	T	7: 123,480,104 (GRCm38)	E877K	probably damaging	Het
Zp3r	C	A	1: 130,577,053 (GRCm38)	V536L	probably damaging	Het

Other mutations in Strip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00472:Strip2	APN	6	29,931,214 (GRCm38)	missense	probably benign	0.04
IGL01357:Strip2	APN	6	29,939,167 (GRCm38)	splice site	probably benign
IGL01636:Strip2	APN	6	29,931,193 (GRCm38)	missense	probably benign	0.06
IGL01959:Strip2	APN	6	29,928,554 (GRCm38)	missense	probably damaging	0.99
IGL01961:Strip2	APN	6	29,928,427 (GRCm38)	splice site	probably benign
IGL02089:Strip2	APN	6	29,917,180 (GRCm38)	unclassified	probably benign
1mM(1):Strip2	UTSW	6	29,955,631 (GRCm38)	missense	probably damaging	1.00
R0079:Strip2	UTSW	6	29,920,533 (GRCm38)	critical splice donor site	probably null
R0331:Strip2	UTSW	6	29,926,560 (GRCm38)	missense	probably benign	0.44
R0367:Strip2	UTSW	6	29,937,651 (GRCm38)	missense	possibly damaging	0.90
R0592:Strip2	UTSW	6	29,931,210 (GRCm38)	missense	probably benign	0.28
R1087:Strip2	UTSW	6	29,927,634 (GRCm38)	missense	probably damaging	0.99
R1390:Strip2	UTSW	6	29,929,829 (GRCm38)	missense	probably damaging	1.00
R1758:Strip2	UTSW	6	29,941,941 (GRCm38)	critical splice donor site	probably null
R2213:Strip2	UTSW	6	29,931,148 (GRCm38)	missense	probably damaging	0.99
R2437:Strip2	UTSW	6	29,941,941 (GRCm38)	critical splice donor site	probably null
R2900:Strip2	UTSW	6	29,939,035 (GRCm38)	critical splice acceptor site	probably null
R3892:Strip2	UTSW	6	29,917,075 (GRCm38)	unclassified	probably benign
R4010:Strip2	UTSW	6	29,955,585 (GRCm38)	missense	possibly damaging	0.66
R4435:Strip2	UTSW	6	29,925,050 (GRCm38)	missense	probably benign	0.06
R4807:Strip2	UTSW	6	29,925,093 (GRCm38)	nonsense	probably null
R5015:Strip2	UTSW	6	29,931,266 (GRCm38)	missense	probably benign	0.03
R5080:Strip2	UTSW	6	29,945,593 (GRCm38)	missense	probably damaging	0.99
R5484:Strip2	UTSW	6	29,917,155 (GRCm38)	unclassified	probably benign
R5502:Strip2	UTSW	6	29,927,624 (GRCm38)	missense	probably benign	0.23
R5899:Strip2	UTSW	6	29,956,958 (GRCm38)	utr 3 prime	probably benign
R6004:Strip2	UTSW	6	29,926,571 (GRCm38)	missense	probably damaging	0.98
R6479:Strip2	UTSW	6	29,944,497 (GRCm38)	splice site	probably null
R6835:Strip2	UTSW	6	29,941,917 (GRCm38)	missense	probably damaging	1.00
R7068:Strip2	UTSW	6	29,932,208 (GRCm38)	missense	probably benign	0.03
R7073:Strip2	UTSW	6	29,941,912 (GRCm38)	missense	possibly damaging	0.95
R7088:Strip2	UTSW	6	29,920,533 (GRCm38)	critical splice donor site	probably null
R7231:Strip2	UTSW	6	29,944,487 (GRCm38)	missense	probably damaging	0.96
R7813:Strip2	UTSW	6	29,923,913 (GRCm38)	critical splice acceptor site	probably null
R7827:Strip2	UTSW	6	29,923,929 (GRCm38)	missense	probably benign	0.18
R8354:Strip2	UTSW	6	29,920,532 (GRCm38)	critical splice donor site	probably null
R8723:Strip2	UTSW	6	29,941,864 (GRCm38)	missense	probably damaging	1.00
R8750:Strip2	UTSW	6	29,931,816 (GRCm38)	missense	probably damaging	0.96
R8793:Strip2	UTSW	6	29,956,816 (GRCm38)	missense	probably benign	0.27
R8843:Strip2	UTSW	6	29,923,969 (GRCm38)	missense	probably benign	0.44
R9175:Strip2	UTSW	6	29,933,036 (GRCm38)	missense	probably benign	0.01
R9336:Strip2	UTSW	6	29,931,825 (GRCm38)	missense	probably benign	0.03
R9381:Strip2	UTSW	6	29,927,334 (GRCm38)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- AGCTCAGGTGAGTGAAGTGACC -3'
(R):5'- AAAAGGAGAGCTTTCCTCCCTG -3'

Sequencing Primer
(F):5'- ATGAGTGGCATGTGTTACCC -3'
(R):5'- GAGCTTTCCTCCCTGGCAGAC -3'

Posted On

2019-09-13