Mutagenetix > Incidental Mutation

Incidental Mutation 'R5806:Cttn'

448513

Institutional Source

Beutler Lab

Gene Symbol

Cttn

Ensembl Gene

ENSMUSG00000031078

Gene Name

cortactin

Synonyms

1110020L01Rik, Ems1

MMRRC Submission

043392-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.275) question?

Stock #

R5806 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143989468-144024743 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144015005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 68 (T68A)

Ref Sequence

ENSEMBL: ENSMUSP00000033407 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033407] [ENSMUST00000103079]

AlphaFold

Q60598

Predicted Effect

probably damaging
Transcript: ENSMUST00000033407
AA Change: T68A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000033407
Gene: ENSMUSG00000031078
AA Change: T68A

Domain	Start	End	E-Value	Type
Pfam:HS1_rep	83	119	1.3e-22	PFAM
Pfam:HS1_rep	120	156	8.6e-25	PFAM
Pfam:HS1_rep	157	193	3.4e-25	PFAM
Pfam:HS1_rep	194	230	1.9e-23	PFAM
Pfam:HS1_rep	231	267	1.2e-24	PFAM
Pfam:HS1_rep	268	293	2.4e-10	PFAM
coiled coil region	311	364	N/A	INTRINSIC
SH3	454	509	6.84e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103079
AA Change: T68A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000099368
Gene: ENSMUSG00000031078
AA Change: T68A

Domain	Start	End	E-Value	Type
Pfam:HS1_rep	83	118	2.7e-22	PFAM
Pfam:HS1_rep	120	155	2.9e-23	PFAM
Pfam:HS1_rep	157	192	8.2e-24	PFAM
Pfam:HS1_rep	194	229	7.5e-22	PFAM
Pfam:HS1_rep	231	266	6.6e-25	PFAM
Pfam:HS1_rep	268	303	2.3e-22	PFAM
Pfam:HS1_rep	305	332	4.3e-13	PFAM
coiled coil region	348	401	N/A	INTRINSIC
SH3	491	546	6.84e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148778

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is overexpressed in breast cancer and squamous cell carcinomas of the head and neck. The encoded protein is localized in the cytoplasm and in areas of the cell-substratum contacts. This gene has two roles: (1) regulating the interactions between components of adherens-type junctions and (2) organizing the cytoskeleton and cell adhesion structures of epithelia and carcinoma cells. During apoptosis, the encoded protein is degraded in a caspase-dependent manner. The aberrant regulation of this gene contributes to tumor cell invasion and metastasis. Three splice variants that encode different isoforms have been identified for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for one knock-out allele exhibit abnormal early zygote development and die prior to the 2-cell stage. Mice homozygous for a different knock-out allele exhibit increased permeability in vascular and lung endothelial cells and impaired neutrophil extravasation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,388,731 (GRCm39)	M216T	probably benign	Het
Abhd4	A	G	14: 54,499,147 (GRCm39)	N36D	probably benign	Het
Ankra2	T	C	13: 98,405,005 (GRCm39)		probably null	Het
Btd	A	G	14: 31,389,469 (GRCm39)	T397A	probably benign	Het
Ccbe1	T	A	18: 66,209,426 (GRCm39)	K205*	probably null	Het
Clspn	A	G	4: 126,479,899 (GRCm39)	K1081E	probably damaging	Het
Cmya5	A	G	13: 93,230,445 (GRCm39)	S1548P	possibly damaging	Het
Coq8b	T	A	7: 26,950,050 (GRCm39)	Y376*	probably null	Het
Cpxm1	C	A	2: 130,239,393 (GRCm39)	A12S	probably damaging	Het
Cyp2a12	T	A	7: 26,728,504 (GRCm39)		probably null	Het
Ddx46	A	G	13: 55,811,150 (GRCm39)	Q582R	possibly damaging	Het
Ddx55	A	G	5: 124,697,262 (GRCm39)	E208G	probably damaging	Het
Dnaaf4	T	C	9: 72,869,336 (GRCm39)	L182P	probably benign	Het
Dync1h1	A	T	12: 110,618,087 (GRCm39)	T3209S	probably damaging	Het
Ep400	A	T	5: 110,903,420 (GRCm39)	L393*	probably null	Het
Ern1	G	C	11: 106,289,531 (GRCm39)	S924C	probably damaging	Het
Fanci	T	C	7: 79,098,596 (GRCm39)	I1249T	probably damaging	Het
Fgfbp3	T	G	19: 36,895,949 (GRCm39)	D223A	probably damaging	Het
Frmd6	T	C	12: 70,936,794 (GRCm39)	L313P	probably damaging	Het
Galnt17	A	G	5: 130,906,657 (GRCm39)	Y504H	probably damaging	Het
Gjb5	A	G	4: 127,249,718 (GRCm39)	I142T	probably benign	Het
Gvin1	T	C	7: 105,757,413 (GRCm39)	D2352G	probably benign	Het
H2-M2	G	A	17: 37,792,617 (GRCm39)	T218I	probably damaging	Het
Hal	A	G	10: 93,326,846 (GRCm39)	T161A	probably damaging	Het
Helb	G	A	10: 119,928,424 (GRCm39)	R806C	probably damaging	Het
Ift80	T	A	3: 68,857,809 (GRCm39)	I279F	probably benign	Het
Itln1	A	T	1: 171,358,720 (GRCm39)	I149N	possibly damaging	Het
Kcnt2	A	C	1: 140,437,234 (GRCm39)	T556P	probably damaging	Het
Klk1b22	A	T	7: 43,765,301 (GRCm39)	E84D	possibly damaging	Het
Krt78	A	G	15: 101,858,937 (GRCm39)	L305P	probably damaging	Het
Lzts2	T	C	19: 45,014,806 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,265,680 (GRCm39)	L6843P	probably damaging	Het
Magi2	C	A	5: 20,856,202 (GRCm39)	H841Q	probably benign	Het
Mdm1	A	T	10: 118,002,563 (GRCm39)	H628L	probably benign	Het
Med23	A	G	10: 24,783,119 (GRCm39)	D734G	probably damaging	Het
Mfsd13a	T	C	19: 46,354,849 (GRCm39)	W9R	probably benign	Het
Mki67	T	C	7: 135,306,334 (GRCm39)	H576R	probably damaging	Het
Muc5b	A	G	7: 141,416,572 (GRCm39)	T3173A	possibly damaging	Het
Mx1	A	T	16: 97,255,351 (GRCm39)	V234E	possibly damaging	Het
Myh2	T	C	11: 67,072,141 (GRCm39)	L623P	probably damaging	Het
Naip1	C	T	13: 100,581,243 (GRCm39)	M1I	probably null	Het
Ncapd2	A	T	6: 125,158,117 (GRCm39)	V337E	probably damaging	Het
Nit2	G	A	16: 56,982,056 (GRCm39)	T64M	possibly damaging	Het
Or1e34	A	T	11: 73,778,373 (GRCm39)	M275K	probably damaging	Het
Or4c103	T	C	2: 88,513,495 (GRCm39)	N194D	probably damaging	Het
Or6e1	A	T	14: 54,520,264 (GRCm39)	F29L	probably benign	Het
Otub2	A	G	12: 103,369,656 (GRCm39)	E245G	probably benign	Het
Pde8b	T	C	13: 95,178,548 (GRCm39)	K524R	probably damaging	Het
Pih1d2	C	T	9: 50,529,750 (GRCm39)		probably benign	Het
Pik3cg	T	A	12: 32,254,952 (GRCm39)	D345V	possibly damaging	Het
Plekhg4	A	T	8: 106,105,542 (GRCm39)	Q669L	possibly damaging	Het
Prlr	A	T	15: 10,319,290 (GRCm39)	Y73F	probably damaging	Het
Ptk6	T	C	2: 180,841,523 (GRCm39)	I129V	possibly damaging	Het
Ranbp3	A	T	17: 57,017,717 (GRCm39)	T458S	probably benign	Het
Ren1	T	A	1: 133,283,249 (GRCm39)	Y128*	probably null	Het
Rimkla	A	T	4: 119,325,663 (GRCm39)	S249T	probably damaging	Het
Rnf222	T	C	11: 68,783,789 (GRCm39)	S119P	possibly damaging	Het
Rrbp1	T	A	2: 143,805,251 (GRCm39)	E1007V	probably benign	Het
Septin11	G	A	5: 93,315,437 (GRCm39)	E389K	probably benign	Het
Setbp1	A	G	18: 78,899,697 (GRCm39)		probably null	Het
Slc25a54	T	C	3: 108,987,894 (GRCm39)	S12P	probably benign	Het
Slc26a5	A	C	5: 22,028,561 (GRCm39)	F336V	probably damaging	Het
Slc5a6	T	C	5: 31,198,114 (GRCm39)	T254A	probably damaging	Het
Smcr8	G	T	11: 60,671,208 (GRCm39)		probably null	Het
Srcap	A	T	7: 127,158,335 (GRCm39)		probably benign	Het
Srrt	A	T	5: 137,296,179 (GRCm39)	I509N	probably damaging	Het
Tcf25	T	A	8: 124,108,243 (GRCm39)	H99Q	probably benign	Het
Tmem40	A	G	6: 115,713,373 (GRCm39)	V76A	probably benign	Het
Tnni3k	A	T	3: 154,533,248 (GRCm39)	S740T	possibly damaging	Het
Top3a	A	G	11: 60,667,746 (GRCm39)		probably null	Het
Tpd52l2	C	A	2: 181,144,680 (GRCm39)	T109K	probably damaging	Het
Tsnaxip1	C	A	8: 106,564,128 (GRCm39)	D109E	possibly damaging	Het
Uty	G	T	Y: 1,170,921 (GRCm39)	D313E	probably damaging	Het
Zfp143	A	T	7: 109,685,442 (GRCm39)	K423*	probably null	Het
Zfp407	C	T	18: 84,576,739 (GRCm39)	G1458D	probably damaging	Het

Other mutations in Cttn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01395:Cttn	APN	7	144,011,464 (GRCm39)	missense	probably damaging	0.99
IGL01432:Cttn	APN	7	144,015,043 (GRCm39)	missense	probably damaging	0.98
IGL02652:Cttn	APN	7	143,995,468 (GRCm39)	missense	probably benign	0.00
PIT4377001:Cttn	UTSW	7	143,993,833 (GRCm39)	missense	possibly damaging	0.71
R0226:Cttn	UTSW	7	143,995,589 (GRCm39)	splice site	probably benign
R0346:Cttn	UTSW	7	144,006,276 (GRCm39)	splice site	probably benign
R1220:Cttn	UTSW	7	144,017,699 (GRCm39)	missense	probably benign
R3807:Cttn	UTSW	7	143,999,588 (GRCm39)	missense	probably damaging	1.00
R4080:Cttn	UTSW	7	144,011,461 (GRCm39)	missense	probably damaging	1.00
R4578:Cttn	UTSW	7	144,008,453 (GRCm39)	missense	probably damaging	1.00
R6835:Cttn	UTSW	7	144,010,234 (GRCm39)	critical splice acceptor site	probably null
R6985:Cttn	UTSW	7	144,006,324 (GRCm39)	nonsense	probably null
R7883:Cttn	UTSW	7	143,999,555 (GRCm39)	missense	probably benign	0.00
R8143:Cttn	UTSW	7	144,014,999 (GRCm39)	nonsense	probably null
R9319:Cttn	UTSW	7	144,017,100 (GRCm39)	missense	probably damaging	0.99
R9663:Cttn	UTSW	7	144,011,461 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTATAGAAGACCCCTCAGAGC -3'
(R):5'- CACATACAGAGCCTTGGAGG -3'

Sequencing Primer
(F):5'- CCCCACTCTACACTATGACTCAGG -3'
(R):5'- CTTGGAGGCAGGCACAGTG -3'

Posted On

2016-12-15