Mutagenetix > Incidental Mutation

Incidental Mutation 'R3807:Cttn'

274976

Institutional Source

Beutler Lab

Gene Symbol

Cttn

Ensembl Gene

ENSMUSG00000031078

Gene Name

cortactin

Synonyms

1110020L01Rik, Ems1

MMRRC Submission

040764-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.254) question?

Stock #

R3807 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143989468-144024743 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 143999588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 290 (V290M)

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: V290M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033407
Gene: ENSMUSG00000031078
AA Change: V290M

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

possibly damaging
Transcript: ENSMUST00000103079
AA Change: V327M

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099368
Gene: ENSMUSG00000031078
AA Change: V327M

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: ENSMUST00000126018

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150607

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157079

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	T	8: 112,717,002 (GRCm39)	W2R	probably damaging	Het
Arhgap42	A	G	9: 9,008,034 (GRCm39)	I563T	probably damaging	Het
Armcx1	T	C	X: 133,622,014 (GRCm39)	V372A	probably damaging	Het
Bicd1	T	A	6: 149,420,489 (GRCm39)	L780M	probably damaging	Het
Bpifb1	C	A	2: 154,055,922 (GRCm39)	N329K	probably benign	Het
Ccdc113	A	T	8: 96,269,281 (GRCm39)	N193I	probably damaging	Het
Cebpz	A	T	17: 79,242,847 (GRCm39)	L269Q	probably damaging	Het
Ctu1	T	C	7: 43,326,097 (GRCm39)	L252P	probably damaging	Het
Dmbt1	T	A	7: 130,713,819 (GRCm39)	M1455K	possibly damaging	Het
Eme1	A	G	11: 94,541,418 (GRCm39)	W135R	probably damaging	Het
Entpd7	T	G	19: 43,713,979 (GRCm39)		probably null	Het
Eri2	A	T	7: 119,385,231 (GRCm39)	C423*	probably null	Het
Erich1	T	C	8: 14,083,695 (GRCm39)	N125S	probably benign	Het
Fam149a	T	A	8: 45,834,647 (GRCm39)	T51S	possibly damaging	Het
Fer1l4	C	T	2: 155,887,603 (GRCm39)	G531D	probably damaging	Het
Frem2	A	T	3: 53,560,870 (GRCm39)	D1212E	probably benign	Het
Garin3	G	A	11: 46,295,780 (GRCm39)	A51T	possibly damaging	Het
Get4	G	T	5: 139,238,286 (GRCm39)	V23F	probably damaging	Het
Gm11595	C	T	11: 99,663,380 (GRCm39)	R100H	unknown	Het
Gria1	T	C	11: 57,201,504 (GRCm39)	W712R	probably damaging	Het
Herc2	A	G	7: 55,857,557 (GRCm39)	N4047D	probably damaging	Het
Hoxc9	A	G	15: 102,890,116 (GRCm39)	Y11C	possibly damaging	Het
Lama2	GCCC	GCC	10: 27,066,661 (GRCm39)		probably null	Het
Lrrc56	A	G	7: 140,789,298 (GRCm39)	T393A	probably benign	Het
Lrrc7	T	C	3: 157,891,130 (GRCm39)	I346V	probably benign	Het
Med14	T	C	X: 12,553,416 (GRCm39)	Y463C	probably damaging	Het
Nalcn	T	A	14: 123,515,599 (GRCm39)	D1734V	probably damaging	Het
Nfe2l3	A	T	6: 51,434,357 (GRCm39)	R306*	probably null	Het
Nolc1	CAG	CAGAAG	19: 46,069,798 (GRCm39)		probably benign	Het
Nolc1	CAG	CAGAAG	19: 46,069,810 (GRCm39)		probably benign	Het
Nolc1	CCAGCAGCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,069,791 (GRCm39)		probably benign	Het
Npr1	A	T	3: 90,366,033 (GRCm39)	V586E	probably damaging	Het
Or2d2b	A	G	7: 106,705,670 (GRCm39)	S133P	probably benign	Het
Or5h24	A	C	16: 58,919,206 (GRCm39)	*50G	probably null	Het
Pcdhb4	T	C	18: 37,442,367 (GRCm39)	F559S	probably damaging	Het
Psmd12	T	G	11: 107,386,591 (GRCm39)	D387E	probably benign	Het
Psme4	T	A	11: 30,806,027 (GRCm39)		probably null	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rgs11	A	T	17: 26,422,474 (GRCm39)	I69F	probably damaging	Het
Ryr1	C	T	7: 28,719,577 (GRCm39)	A4277T	probably damaging	Het
Setbp1	C	T	18: 78,826,537 (GRCm39)	V1359I	probably benign	Het
Sis	A	T	3: 72,832,929 (GRCm39)	V956E	probably benign	Het
Slc35f3	T	A	8: 127,115,978 (GRCm39)	W302R	probably damaging	Het
Syt16	A	G	12: 74,276,172 (GRCm39)	E212G	possibly damaging	Het
Tdp2	C	A	13: 25,015,776 (GRCm39)	S21*	probably null	Het
Tfrc	A	T	16: 32,435,644 (GRCm39)	N173I	possibly damaging	Het
Tmem132b	A	T	5: 125,864,644 (GRCm39)	I917F	probably damaging	Het
Vbp1	T	C	X: 74,566,948 (GRCm39)	V122A	probably damaging	Het
Vmn1r225	G	A	17: 20,723,114 (GRCm39)	W185*	probably null	Het
Vmn1r70	A	G	7: 10,367,715 (GRCm39)	T68A	probably benign	Het
Zfp518a	A	G	19: 40,903,241 (GRCm39)	K1057E	possibly 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
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
R5806:Cttn	UTSW	7	144,015,005 (GRCm39)	missense	probably damaging	0.99
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'- ACGTAGGCTGCTCTCAGAAC -3'
(R):5'- ATCATCAGTATGTCTGTGGAAGG -3'

Sequencing Primer
(F):5'- GCTGCTCTCAGAACCTGGTC -3'
(R):5'- TCTGTGGAAGGGGAGCC -3'

Posted On

2015-04-02