Mutagenetix > Incidental Mutation

Incidental Mutation 'R8065:Ssh2'

619959

Institutional Source

Beutler Lab

Gene Symbol

Ssh2

Ensembl Gene

ENSMUSG00000037926

Gene Name

slingshot protein phosphatase 2

Synonyms

SSH-2

MMRRC Submission

067501-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

R8065 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77216287-77460220 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77441985 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 431 (R431G)

Ref Sequence

ENSEMBL: ENSMUSP00000137933 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037912] [ENSMUST00000181283]

AlphaFold

Q5SW75

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037912
AA Change: R425G

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

SMART Domains

Protein: ENSMUSP00000042625
Gene: ENSMUSG00000037926
AA Change: R425G

Domain	Start	End	E-Value	Type
low complexity region	9	18	N/A	INTRINSIC
Pfam:DEK_C	251	302	3.1e-13	PFAM
DSPc	307	445	2.2e-41	SMART
low complexity region	459	469	N/A	INTRINSIC
low complexity region	871	882	N/A	INTRINSIC
low complexity region	1002	1014	N/A	INTRINSIC
low complexity region	1370	1385	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000181283
AA Change: R431G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000137933
Gene: ENSMUSG00000037926
AA Change: R431G

Domain	Start	End	E-Value	Type
Pfam:DEK_C	256	309	1.7e-18	PFAM
DSPc	313	451	2.2e-41	SMART
low complexity region	465	475	N/A	INTRINSIC
low complexity region	877	888	N/A	INTRINSIC
low complexity region	1008	1020	N/A	INTRINSIC
low complexity region	1376	1391	N/A	INTRINSIC

Meta Mutation Damage Score

0.8719

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (47/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein tyrosine phosphatase that plays a key role in the regulation of actin filaments. The encoded protein dephosphorylates and activates cofilin, which promotes actin filament depolymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cap2	T	C	13: 46,637,861 (GRCm38)	V280A	probably damaging	Het
Cbx7	A	T	15: 79,933,898 (GRCm38)	V1D	unknown	Het
Chodl	A	T	16: 78,946,713 (GRCm38)	L229F	probably damaging	Het
Depdc5	C	A	5: 32,895,908 (GRCm38)	N197K	possibly damaging	Het
Diaph3	A	T	14: 87,037,495 (GRCm38)	L175Q	probably damaging	Het
Dlat	A	T	9: 50,657,849 (GRCm38)	M218K	possibly damaging	Het
Dnaic1	T	A	4: 41,614,258 (GRCm38)	D311E	probably damaging	Het
Dpp10	A	G	1: 123,352,660 (GRCm38)	S646P	probably benign	Het
Ebf1	G	A	11: 44,620,547 (GRCm38)	V90M	probably benign	Het
Efhd1	C	T	1: 87,264,591 (GRCm38)	P48S	probably benign	Het
Fbxl16	G	A	17: 25,817,983 (GRCm38)	V313I	probably damaging	Het
Flrt2	A	G	12: 95,780,774 (GRCm38)	T629A	probably benign	Het
Gpr87	T	A	3: 59,179,887 (GRCm38)	I66F	probably damaging	Het
Hmmr	G	A	11: 40,721,672 (GRCm38)	S206F	probably damaging	Het
Hsd17b4	A	T	18: 50,170,752 (GRCm38)	I431F	possibly damaging	Het
Iba57	T	C	11: 59,163,260 (GRCm38)		probably benign	Het
Ibtk	A	C	9: 85,720,863 (GRCm38)	S696R	probably benign	Het
Igkv11-125	C	A	6: 67,913,830 (GRCm38)	T44N	probably benign	Het
Itih2	T	A	2: 10,123,483 (GRCm38)	I136F	probably damaging	Het
Itpr3	T	A	17: 27,110,862 (GRCm38)	D1543E	probably benign	Het
Ldlr	T	A	9: 21,737,945 (GRCm38)	C339S	probably damaging	Het
Myh2	G	A	11: 67,181,344 (GRCm38)	E633K	probably null	Het
Myl10	G	C	5: 136,697,971 (GRCm38)	V70L	probably benign	Het
Mylk	A	T	16: 34,972,019 (GRCm38)	E1570V	probably benign	Het
Myo15b	G	A	11: 115,887,943 (GRCm38)		probably null	Het
N4bp2	T	A	5: 65,807,296 (GRCm38)	L896H	probably damaging	Het
Naip2	A	T	13: 100,189,222 (GRCm38)	S59R	probably damaging	Het
Ndc1	T	A	4: 107,390,398 (GRCm38)	S468T	probably benign	Het
Ndst3	T	C	3: 123,601,445 (GRCm38)	N512S	probably damaging	Het
Olfr1138	T	A	2: 87,737,803 (GRCm38)	I174F	probably damaging	Het
Olfr65	A	G	7: 103,906,403 (GRCm38)		probably benign	Het
Plekhn1	T	C	4: 156,228,240 (GRCm38)	I54V	possibly damaging	Het
Polr3c	T	C	3: 96,715,652 (GRCm38)	E350G	probably null	Het
Pskh1	T	G	8: 105,929,855 (GRCm38)	S388A	possibly damaging	Het
Pum1	T	C	4: 130,751,525 (GRCm38)	V486A	possibly damaging	Het
Rin2	T	G	2: 145,861,057 (GRCm38)	S558A	probably damaging	Het
Ripk4	A	T	16: 97,763,537 (GRCm38)	V58D	probably damaging	Het
Slc17a3	A	G	13: 23,858,087 (GRCm38)	R491G	unknown	Het
Smyd3	A	G	1: 179,410,463 (GRCm38)	M113T	possibly damaging	Het
Timm22	G	A	11: 76,414,105 (GRCm38)	D190N	probably damaging	Het
Ube2g1	G	A	11: 72,677,765 (GRCm38)	G103D	probably benign	Het
Zbtb5	A	T	4: 44,994,972 (GRCm38)	S137R	probably benign	Het
Zfp105	A	G	9: 122,925,129 (GRCm38)	T8A	probably benign	Het
Zfp286	A	T	11: 62,753,519 (GRCm38)	I192K	unknown	Het
Zfp942	T	C	17: 21,930,410 (GRCm38)	Y38C	probably damaging	Het
Zfpm1	T	C	8: 122,335,584 (GRCm38)	S461P	probably benign	Het

Other mutations in Ssh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00811:Ssh2	APN	11	77,441,926 (GRCm38)	missense	probably damaging	1.00
IGL01141:Ssh2	APN	11	77,449,726 (GRCm38)	missense	probably damaging	1.00
IGL01520:Ssh2	APN	11	77,449,906 (GRCm38)	missense	probably damaging	1.00
IGL01803:Ssh2	APN	11	77,425,330 (GRCm38)	missense	probably damaging	0.99
IGL01989:Ssh2	APN	11	77,453,685 (GRCm38)	missense	possibly damaging	0.79
IGL02322:Ssh2	APN	11	77,416,413 (GRCm38)	critical splice acceptor site	probably null
IGL02466:Ssh2	APN	11	77,416,407 (GRCm38)	splice site	probably benign
IGL02683:Ssh2	APN	11	77,398,256 (GRCm38)	missense	probably damaging	0.99
IGL02706:Ssh2	APN	11	77,453,406 (GRCm38)	missense	possibly damaging	0.68
IGL02719:Ssh2	APN	11	77,425,587 (GRCm38)	missense	probably damaging	1.00
IGL02721:Ssh2	APN	11	77,454,725 (GRCm38)	nonsense	probably null
IGL02732:Ssh2	APN	11	77,437,776 (GRCm38)	splice site	probably null
IGL02745:Ssh2	APN	11	77,455,407 (GRCm38)	missense	probably damaging	1.00
IGL02993:Ssh2	APN	11	77,453,544 (GRCm38)	missense	probably damaging	1.00
IGL03000:Ssh2	APN	11	77,421,206 (GRCm38)	splice site	probably benign
david	UTSW	11	77,425,593 (GRCm38)	missense	probably damaging	1.00
faba	UTSW	11	77,441,985 (GRCm38)	missense	probably damaging	1.00
goliath	UTSW	11	77,453,523 (GRCm38)	missense	possibly damaging	0.48
Vicia	UTSW	11	77,454,966 (GRCm38)	missense	possibly damaging	0.68
IGL03055:Ssh2	UTSW	11	77,408,195 (GRCm38)	nonsense	probably null
R0024:Ssh2	UTSW	11	77,454,966 (GRCm38)	missense	possibly damaging	0.68
R0374:Ssh2	UTSW	11	77,408,143 (GRCm38)	missense	probably damaging	1.00
R0539:Ssh2	UTSW	11	77,454,794 (GRCm38)	missense	probably benign	0.11
R0834:Ssh2	UTSW	11	77,437,633 (GRCm38)	missense	possibly damaging	0.87
R1714:Ssh2	UTSW	11	77,454,024 (GRCm38)	missense	possibly damaging	0.94
R1743:Ssh2	UTSW	11	77,437,756 (GRCm38)	missense	probably damaging	1.00
R1889:Ssh2	UTSW	11	77,449,745 (GRCm38)	missense	probably damaging	1.00
R1895:Ssh2	UTSW	11	77,449,745 (GRCm38)	missense	probably damaging	1.00
R3945:Ssh2	UTSW	11	77,454,668 (GRCm38)	missense	possibly damaging	0.93
R3947:Ssh2	UTSW	11	77,398,256 (GRCm38)	missense	probably damaging	0.99
R3948:Ssh2	UTSW	11	77,398,256 (GRCm38)	missense	probably damaging	0.99
R4133:Ssh2	UTSW	11	77,421,269 (GRCm38)	missense	probably damaging	1.00
R4256:Ssh2	UTSW	11	77,408,183 (GRCm38)	missense	possibly damaging	0.48
R4499:Ssh2	UTSW	11	77,393,067 (GRCm38)	nonsense	probably null
R4548:Ssh2	UTSW	11	77,450,184 (GRCm38)	missense	probably benign	0.20
R4644:Ssh2	UTSW	11	77,449,576 (GRCm38)	missense	possibly damaging	0.46
R4690:Ssh2	UTSW	11	77,455,205 (GRCm38)	missense	possibly damaging	0.62
R4788:Ssh2	UTSW	11	77,429,798 (GRCm38)	missense	probably damaging	1.00
R4919:Ssh2	UTSW	11	77,425,320 (GRCm38)	missense	possibly damaging	0.91
R5014:Ssh2	UTSW	11	77,455,276 (GRCm38)	nonsense	probably null
R5380:Ssh2	UTSW	11	77,453,945 (GRCm38)	missense	probably benign	0.01
R5574:Ssh2	UTSW	11	77,450,115 (GRCm38)	missense	probably benign
R5593:Ssh2	UTSW	11	77,421,366 (GRCm38)	missense	probably damaging	0.99
R5739:Ssh2	UTSW	11	77,449,813 (GRCm38)	missense	probably damaging	1.00
R6180:Ssh2	UTSW	11	77,453,465 (GRCm38)	missense	probably benign	0.43
R6542:Ssh2	UTSW	11	77,450,150 (GRCm38)	missense	possibly damaging	0.94
R6713:Ssh2	UTSW	11	77,449,433 (GRCm38)	missense	possibly damaging	0.89
R7108:Ssh2	UTSW	11	77,454,794 (GRCm38)	missense	probably benign
R7124:Ssh2	UTSW	11	77,454,338 (GRCm38)	missense	probably benign	0.00
R7255:Ssh2	UTSW	11	77,425,593 (GRCm38)	missense	probably damaging	1.00
R7332:Ssh2	UTSW	11	77,453,523 (GRCm38)	missense	possibly damaging	0.48
R7362:Ssh2	UTSW	11	77,449,650 (GRCm38)	missense	probably benign	0.01
R7395:Ssh2	UTSW	11	77,393,073 (GRCm38)	missense	probably damaging	0.99
R7412:Ssh2	UTSW	11	77,450,108 (GRCm38)	missense	probably damaging	0.98
R7493:Ssh2	UTSW	11	77,437,716 (GRCm38)	missense	probably benign	0.16
R7686:Ssh2	UTSW	11	77,425,324 (GRCm38)	missense	possibly damaging	0.89
R7870:Ssh2	UTSW	11	77,453,615 (GRCm38)	missense	probably benign
R7895:Ssh2	UTSW	11	77,454,626 (GRCm38)	missense	probably benign	0.41
R7963:Ssh2	UTSW	11	77,421,356 (GRCm38)	missense	possibly damaging	0.93
R8030:Ssh2	UTSW	11	77,454,506 (GRCm38)	missense	probably benign	0.01
R8099:Ssh2	UTSW	11	77,454,929 (GRCm38)	nonsense	probably null
R8294:Ssh2	UTSW	11	77,454,201 (GRCm38)	missense	probably benign	0.08
R8464:Ssh2	UTSW	11	77,454,253 (GRCm38)	nonsense	probably null
R8469:Ssh2	UTSW	11	77,449,608 (GRCm38)	missense	probably benign	0.41
R8547:Ssh2	UTSW	11	77,449,707 (GRCm38)	missense	probably benign	0.10
R8677:Ssh2	UTSW	11	77,455,193 (GRCm38)	missense	possibly damaging	0.77
R8758:Ssh2	UTSW	11	77,454,017 (GRCm38)	missense	probably benign
R9029:Ssh2	UTSW	11	77,437,628 (GRCm38)	missense	probably damaging	1.00
R9030:Ssh2	UTSW	11	77,421,236 (GRCm38)	missense	possibly damaging	0.63
R9126:Ssh2	UTSW	11	77,455,276 (GRCm38)	nonsense	probably null
R9146:Ssh2	UTSW	11	77,437,676 (GRCm38)	missense	probably damaging	0.98
R9377:Ssh2	UTSW	11	77,408,148 (GRCm38)	missense	possibly damaging	0.95
R9483:Ssh2	UTSW	11	77,393,150 (GRCm38)	missense	possibly damaging	0.81
R9615:Ssh2	UTSW	11	77,425,377 (GRCm38)	missense	possibly damaging	0.48
RF018:Ssh2	UTSW	11	77,454,054 (GRCm38)	missense	probably damaging	0.99
X0017:Ssh2	UTSW	11	77,441,898 (GRCm38)	missense	probably damaging	1.00
Z1088:Ssh2	UTSW	11	77,449,495 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAACCCCAGCTCTTACACTG -3'
(R):5'- AGCCAGAGGATTTCAGCCTG -3'

Sequencing Primer
(F):5'- AGCTCTTACACTGTACTATCAGCG -3'
(R):5'- GATTTCAGCCTGTGACAGCTCAAG -3'

Posted On

2020-01-23