Mutagenetix > Incidental Mutation

Incidental Mutation 'R6166:Cnn2'

523284

Institutional Source

Beutler Lab

Gene Symbol

Cnn2

Ensembl Gene

ENSMUSG00000004665

Gene Name

calponin 2

Synonyms

Calpo2, h2-calponin

MMRRC Submission

044312-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.231) question?

Stock #

R6166 (G1)

Quality Score

70.0074

Status

Validated

Chromosome

Chromosomal Location

79824434-79831234 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79824561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 17 (E17G)

Ref Sequence

ENSEMBL: ENSMUSP00000004784 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004784] [ENSMUST00000052885] [ENSMUST00000105374]

AlphaFold

Q08093

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004784
AA Change: E17G

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000004784
Gene: ENSMUSG00000004665
AA Change: E17G

Domain	Start	End	E-Value	Type
CH	30	127	1.82e-22	SMART
Pfam:Calponin	166	190	6e-20	PFAM
Pfam:Calponin	206	230	6e-20	PFAM
Pfam:Calponin	245	268	2.6e-10	PFAM
low complexity region	276	294	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000052885

SMART Domains

Protein: ENSMUSP00000056792
Gene: ENSMUSG00000013858

Domain	Start	End	E-Value	Type
Pfam:Membralin	34	131	3.3e-44	PFAM
Pfam:Membralin	138	393	3.9e-130	PFAM
transmembrane domain	394	411	N/A	INTRINSIC
low complexity region	455	470	N/A	INTRINSIC
low complexity region	483	521	N/A	INTRINSIC
low complexity region	531	544	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105374
AA Change: E17G

PolyPhen 2 Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101013
Gene: ENSMUSG00000004665
AA Change: E17G

Domain	Start	End	E-Value	Type
CH	30	127	1.82e-22	SMART
Pfam:Calponin	130	152	7.6e-15	PFAM
Pfam:Calponin	167	192	4.1e-16	PFAM
Pfam:Calponin	206	230	6.4e-15	PFAM
low complexity region	237	255	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124536

SMART Domains

Protein: ENSMUSP00000119572
Gene: ENSMUSG00000013858

Domain	Start	End	E-Value	Type
Pfam:Membralin	4	101	1.6e-44	PFAM
Pfam:Membralin	108	297	7.7e-83	PFAM
Pfam:Membralin	316	387	5e-42	PFAM
transmembrane domain	388	405	N/A	INTRINSIC
low complexity region	449	464	N/A	INTRINSIC
low complexity region	477	515	N/A	INTRINSIC
low complexity region	525	538	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179260

Meta Mutation Damage Score

0.4890

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

97% (57/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, which can bind actin, calmodulin, troponin C, and tropomyosin, may function in the structural organization of actin filaments. The encoded protein could play a role in smooth muscle contraction and cell adhesion. Several pseudogenes of this gene have been identified, and are present on chromosomes 1, 2, 3, 6, 9, 11, 13, 15, 16, 21 and 22. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for either a knock-out or a knock-down allele have reduced numbers of peripheral blood neutrophils and monocytes. Knock-out mice show increased macrophage proliferation, motility and phagocytosis, faster diapedesis of peripheral monocytesand neutrophils, and enhanced wound healing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot2	A	T	12: 84,039,378 (GRCm39)	N296Y	probably damaging	Het
Ago2	T	A	15: 72,996,089 (GRCm39)	I347L	probably benign	Het
Aldh1l2	C	T	10: 83,329,288 (GRCm39)		probably null	Het
Ap1ar	A	G	3: 127,606,177 (GRCm39)		probably null	Het
Arap3	T	C	18: 38,107,423 (GRCm39)	T1365A	probably damaging	Het
Arhgef17	A	T	7: 100,525,699 (GRCm39)	H1966Q	probably damaging	Het
Arpp21	T	C	9: 111,948,266 (GRCm39)	T668A	probably benign	Het
Atg13	G	T	2: 91,506,736 (GRCm39)	Q479K	probably damaging	Het
Bmp8a	T	C	4: 123,218,471 (GRCm39)	T183A	probably benign	Het
Camta2	G	C	11: 70,565,087 (GRCm39)		probably null	Het
Catspere2	A	G	1: 177,931,403 (GRCm39)	T441A	unknown	Het
Ccdc40	T	C	11: 119,122,827 (GRCm39)	S210P	probably benign	Het
Cnot6l	T	C	5: 96,227,799 (GRCm39)	D478G	possibly damaging	Het
Cplane1	A	G	15: 8,216,044 (GRCm39)	H478R	probably benign	Het
Csf2rb	A	G	15: 78,228,766 (GRCm39)	Y369C	probably damaging	Het
Dll4	A	G	2: 119,165,107 (GRCm39)		probably null	Het
Efcab6	A	G	15: 83,780,316 (GRCm39)	V1039A	probably benign	Het
Fam117a	T	C	11: 95,271,607 (GRCm39)	M393T	possibly damaging	Het
Fancd2	T	A	6: 113,532,212 (GRCm39)	N508K	possibly damaging	Het
Fat1	T	C	8: 45,405,522 (GRCm39)	S758P	probably damaging	Het
Fgf20	T	C	8: 40,732,881 (GRCm39)	K186E	probably damaging	Het
Filip1	T	C	9: 79,726,736 (GRCm39)	K628E	probably damaging	Het
Fsip2	G	T	2: 82,811,071 (GRCm39)	K2463N	probably benign	Het
Gm15446	T	A	5: 110,090,646 (GRCm39)	Y299*	probably null	Het
Gm7363	A	T	7: 3,986,784 (GRCm39)		noncoding transcript	Het
Gpx5	A	T	13: 21,473,435 (GRCm39)	F104I	probably damaging	Het
Grip1	A	T	10: 119,908,623 (GRCm39)	I618F	probably damaging	Het
Hmcn2	G	A	2: 31,259,274 (GRCm39)	G1038D	probably damaging	Het
Lgals9	C	T	11: 78,862,184 (GRCm39)	A134T	probably benign	Het
Lrba	G	A	3: 86,261,614 (GRCm39)		probably null	Het
Lypd10	A	T	7: 24,413,644 (GRCm39)	Q220L	probably benign	Het
Naprt	T	C	15: 75,763,326 (GRCm39)	Q439R	possibly damaging	Het
Ndufs6	G	A	13: 73,466,060 (GRCm39)		probably benign	Het
Nodal	C	A	10: 61,260,337 (GRCm39)	S329R	probably damaging	Het
Olfm3	T	A	3: 114,916,074 (GRCm39)	N315K	probably damaging	Het
Or4k2	C	T	14: 50,424,225 (GRCm39)	V150I	probably benign	Het
Or6c3b	A	T	10: 129,527,148 (GRCm39)	I254K	probably damaging	Het
Or6k2	A	G	1: 173,986,659 (GRCm39)	T107A	probably benign	Het
Plg	T	A	17: 12,617,001 (GRCm39)	V373E	probably damaging	Het
Prdm2	A	C	4: 142,861,306 (GRCm39)	S661R	probably damaging	Het
Psg21	A	T	7: 18,390,664 (GRCm39)		probably benign	Het
Rhobtb2	T	C	14: 70,035,627 (GRCm39)	D148G	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Scaf11	A	T	15: 96,322,543 (GRCm39)	N116K	probably damaging	Het
Sf3a3	T	C	4: 124,617,177 (GRCm39)		probably benign	Homo
Slc38a9	T	G	13: 112,831,801 (GRCm39)	Y184D	possibly damaging	Het
Sowahc	A	G	10: 59,058,182 (GRCm39)	D106G	probably benign	Het
Srbd1	T	C	17: 86,406,696 (GRCm39)	Y563C	probably damaging	Het
Src	A	G	2: 157,310,442 (GRCm39)	Y359C	probably damaging	Het
Tbc1d9b	A	G	11: 50,026,673 (GRCm39)	D47G	probably damaging	Het
Tctn3	T	C	19: 40,585,923 (GRCm39)	K541E	possibly damaging	Het
Tgm7	A	G	2: 120,929,539 (GRCm39)	V245A	probably damaging	Het
Thbs2	C	T	17: 14,900,650 (GRCm39)	R519H	probably damaging	Het
Tm4sf19	T	C	16: 32,226,681 (GRCm39)	S157P	probably damaging	Het
Trio	C	T	15: 27,818,157 (GRCm39)	S507N	probably damaging	Het
Trrap	T	A	5: 144,718,791 (GRCm39)	H152Q	possibly damaging	Het
Vmn2r56	A	G	7: 12,427,947 (GRCm39)	L773P	probably damaging	Het
Vmn2r70	A	G	7: 85,215,189 (GRCm39)	L115P	probably benign	Het
Wdr59	C	T	8: 112,199,293 (GRCm39)	R631H	probably damaging	Het

Other mutations in Cnn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01941:Cnn2	APN	10	79,828,388 (GRCm39)	missense	probably benign	0.01
IGL02715:Cnn2	APN	10	79,829,323 (GRCm39)	missense	probably damaging	1.00
BB003:Cnn2	UTSW	10	79,829,160 (GRCm39)	missense	probably damaging	1.00
BB013:Cnn2	UTSW	10	79,829,160 (GRCm39)	missense	probably damaging	1.00
R1018:Cnn2	UTSW	10	79,829,397 (GRCm39)	missense	probably damaging	0.97
R1294:Cnn2	UTSW	10	79,829,359 (GRCm39)	missense	probably damaging	0.96
R1346:Cnn2	UTSW	10	79,829,414 (GRCm39)	unclassified	probably benign
R2302:Cnn2	UTSW	10	79,827,233 (GRCm39)	missense	possibly damaging	0.75
R3802:Cnn2	UTSW	10	79,829,329 (GRCm39)	missense	probably benign	0.25
R4452:Cnn2	UTSW	10	79,827,276 (GRCm39)	missense	probably benign
R7156:Cnn2	UTSW	10	79,830,349 (GRCm39)	nonsense	probably null
R7465:Cnn2	UTSW	10	79,828,361 (GRCm39)	missense	probably damaging	1.00
R7926:Cnn2	UTSW	10	79,829,160 (GRCm39)	missense	probably damaging	1.00
R8395:Cnn2	UTSW	10	79,828,293 (GRCm39)	missense	probably benign	0.08
R9210:Cnn2	UTSW	10	79,828,373 (GRCm39)	missense	probably benign
X0025:Cnn2	UTSW	10	79,828,112 (GRCm39)	missense	probably benign	0.06
X0064:Cnn2	UTSW	10	79,830,221 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TATAAGGACATTTGCTCTGCCAG -3'
(R):5'- CTGGAGGTGACATTCAGGATG -3'

Sequencing Primer
(F):5'- GCTCTGCCAGCCAATCG -3'
(R):5'- TGCGGATAAAATGGGTCCCC -3'

Posted On

2018-06-18