Mutagenetix > Incidental Mutation

Incidental Mutation 'R9663:Cttn'

727688

Institutional Source

Beutler Lab

Gene Symbol

Cttn

Ensembl Gene

ENSMUSG00000031078

Gene Name

cortactin

Synonyms

1110020L01Rik, Ems1

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9663 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

143989468-144024743 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144011461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 116 (D116G)

Ref Sequence

ENSEMBL: ENSMUSP00000099368 (fasta)

Gene Model

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

AlphaFold

Q60598

PDB Structure

Lysozyme contamination facilitates crystallization of a hetero-trimericCortactin:Arg:Lysozyme complex [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000033407
AA Change: D116G

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

SMART Domains

Protein: ENSMUSP00000033407
Gene: ENSMUSG00000031078
AA Change: D116G

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 damaging
Transcript: ENSMUST00000103079
AA Change: D116G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099368
Gene: ENSMUSG00000031078
AA Change: D116G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh6	T	C	7: 30,013,371 (GRCm39)	S161P	probably damaging	Het
Alppl2	T	A	1: 87,015,753 (GRCm39)	H297L	probably benign	Het
Angptl2	A	G	2: 33,118,231 (GRCm39)	R2G	probably benign	Het
Arhgef15	T	A	11: 68,845,255 (GRCm39)	N199I	probably damaging	Het
Asns	A	T	6: 7,680,132 (GRCm39)	I328K	probably damaging	Het
Atad2	G	T	15: 57,971,540 (GRCm39)	T734K	probably benign	Het
Capn3	A	C	2: 120,316,859 (GRCm39)	M283L	probably benign	Het
Catsperd	T	A	17: 56,960,751 (GRCm39)	C384S	possibly damaging	Het
Cd101	A	G	3: 100,911,222 (GRCm39)	V816A	probably benign	Het
Cd5	T	G	19: 10,703,858 (GRCm39)	D68A	probably benign	Het
Ceacam18	G	A	7: 43,288,764 (GRCm39)	V172M	probably damaging	Het
Cfap100	G	A	6: 90,386,328 (GRCm39)	R276C		Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Creb3l2	A	G	6: 37,356,926 (GRCm39)	V47A	probably damaging	Het
Crebbp	T	A	16: 3,933,654 (GRCm39)	E1017D	probably damaging	Het
Cyp2c65	A	G	19: 39,079,070 (GRCm39)		probably null	Het
Dcaf13	C	T	15: 38,982,178 (GRCm39)	T48I	possibly damaging	Het
Dsc2	T	A	18: 20,171,205 (GRCm39)	D598V	probably damaging	Het
Dtx3	G	A	10: 127,028,518 (GRCm39)	T237I	probably damaging	Het
E130308A19Rik	A	G	4: 59,719,764 (GRCm39)	E432G	possibly damaging	Het
Eps15	G	A	4: 109,179,270 (GRCm39)	V219I	probably benign	Het
Ext1	A	G	15: 53,208,456 (GRCm39)	S102P	probably damaging	Het
Fam151a	A	T	4: 106,604,894 (GRCm39)	I419L	possibly damaging	Het
Fam89a	C	T	8: 125,478,436 (GRCm39)	G38D	probably damaging	Het
Fdx2	G	T	9: 20,984,717 (GRCm39)	A29E	probably benign	Het
Hhla1	G	A	15: 65,813,630 (GRCm39)	T234I	probably damaging	Het
Hspb6	G	A	7: 30,253,714 (GRCm39)	V76M	probably damaging	Het
Ighmbp2	C	A	19: 3,315,325 (GRCm39)	K698N	probably benign	Het
Invs	A	G	4: 48,426,218 (GRCm39)	I1002V	probably damaging	Het
Itga8	A	C	2: 12,196,580 (GRCm39)	F612L	probably benign	Het
Kcnma1	G	T	14: 24,053,897 (GRCm39)	F99L	probably benign	Het
Klf11	A	G	12: 24,705,731 (GRCm39)	Y395C	probably damaging	Het
Kplce	A	T	3: 92,776,283 (GRCm39)	N133K	probably benign	Het
Lama4	G	A	10: 38,923,944 (GRCm39)	E451K	probably damaging	Het
Lrr1	A	G	12: 69,221,884 (GRCm39)	Y342C	probably damaging	Het
Lrrc18	A	T	14: 32,731,021 (GRCm39)	M187L	probably benign	Het
Luc7l3	A	G	11: 94,187,756 (GRCm39)	S311P	unknown	Het
Lypd3	T	A	7: 24,338,349 (GRCm39)	S133R	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mug1	T	A	6: 121,859,699 (GRCm39)	S1233T	probably benign	Het
Mug1	A	T	6: 121,857,463 (GRCm39)	E1062D	probably benign	Het
Myh7	T	C	14: 55,221,098 (GRCm39)	K942E	probably damaging	Het
Nedd9	T	C	13: 41,469,941 (GRCm39)	D404G	probably damaging	Het
Nisch	C	A	14: 30,895,625 (GRCm39)	A1022S	probably damaging	Het
Nkx3-1	A	G	14: 69,429,321 (GRCm39)	D113G	probably benign	Het
Or1ad6	T	C	11: 50,860,165 (GRCm39)	F107L	probably benign	Het
Or6c1b	A	T	10: 129,272,929 (GRCm39)	I83F	probably damaging	Het
Or6c215	A	G	10: 129,637,497 (GRCm39)	F299S	probably benign	Het
Otub1	C	T	19: 7,176,813 (GRCm39)	G181D	probably damaging	Het
Palb2	T	C	7: 121,726,304 (GRCm39)	H522R	probably benign	Het
Pfpl	A	T	19: 12,407,459 (GRCm39)	D570V	probably damaging	Het
Phyhd1	A	G	2: 30,171,070 (GRCm39)	N271S	probably damaging	Het
Ptprm	T	C	17: 67,498,291 (GRCm39)	Q50R	probably benign	Het
Rfx2	C	A	17: 57,087,895 (GRCm39)	V499L	possibly damaging	Het
Sema5a	C	T	15: 32,673,546 (GRCm39)	Q795*	probably null	Het
Sf3a2	A	G	10: 80,637,309 (GRCm39)	N49S	probably damaging	Het
Sft2d1	T	G	17: 8,545,812 (GRCm39)	S156A	probably benign	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc25a33	T	A	4: 149,836,913 (GRCm39)	T144S	probably benign	Het
Slc7a13	A	T	4: 19,818,818 (GRCm39)	K6M	possibly damaging	Het
Spata31e5	G	T	1: 28,816,536 (GRCm39)	H499N	probably benign	Het
Tfap2c	G	A	2: 172,399,213 (GRCm39)	D487N	probably damaging	Het
Thbs1	G	A	2: 117,949,897 (GRCm39)	R624Q	probably damaging	Het
Thsd4	A	G	9: 59,890,026 (GRCm39)	F857S	probably damaging	Het
Tnfrsf4	A	G	4: 156,100,884 (GRCm39)	I272V	probably benign	Het
Trak1	C	T	9: 121,220,924 (GRCm39)	R45C	probably benign	Het
Trpm2	A	G	10: 77,756,320 (GRCm39)	S1167P	probably benign	Het
Ttc14	A	T	3: 33,855,537 (GRCm39)	T161S	probably benign	Het
Ttll1	A	G	15: 83,380,579 (GRCm39)	V262A	possibly damaging	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Ufsp1	C	A	5: 137,293,545 (GRCm39)	P165Q	possibly damaging	Het
Usp19	T	G	9: 108,371,894 (GRCm39)	L390R	probably damaging	Het
Vegfc	G	T	8: 54,634,338 (GRCm39)	C339F	probably damaging	Het
Vmn2r6	A	T	3: 64,463,549 (GRCm39)	N428K	possibly damaging	Het
Wdr11	T	G	7: 129,210,647 (GRCm39)	V517G	probably damaging	Het
Xkr4	T	A	1: 3,286,519 (GRCm39)	D557V	probably benign	Het
Zan	C	A	5: 137,379,119 (GRCm39)	C5327F	unknown	Het
Zfp770	A	T	2: 114,026,949 (GRCm39)	N373K	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TACTACAGTCCCATGGAGTCAGAG -3'
(R):5'- TTTGGGGTGCACAGTGGAAC -3'

Sequencing Primer
(F):5'- AGAGGCTACCTGTGAACTGCTG -3'
(R):5'- AGCCATTTCCAGGCTGTG -3'

Posted On

2022-10-06