Mutagenetix > Incidental Mutation

Incidental Mutation 'R8966:Cnn1'

682746

Institutional Source

Beutler Lab

Gene Symbol

Cnn1

Ensembl Gene

ENSMUSG00000001349

Gene Name

calponin 1

Synonyms

CnnI, calponin h1, CN

MMRRC Submission

068800-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8966 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22010501-22020517 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 22010716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000001384 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001384] [ENSMUST00000213607] [ENSMUST00000214601] [ENSMUST00000216872]

AlphaFold

Q08091

Predicted Effect

probably null
Transcript: ENSMUST00000001384

SMART Domains

Protein: ENSMUSP00000001384
Gene: ENSMUSG00000001349

Domain	Start	End	E-Value	Type
CH	30	127	2.69e-25	SMART
low complexity region	134	143	N/A	INTRINSIC
Pfam:Calponin	164	188	1.1e-18	PFAM
Pfam:Calponin	204	228	1.1e-17	PFAM
Pfam:Calponin	243	267	2.6e-15	PFAM
low complexity region	286	295	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213607

Predicted Effect

probably benign
Transcript: ENSMUST00000214601

Predicted Effect

probably benign
Transcript: ENSMUST00000216872

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an allele lacking exons 5-7 exhibit accelerated cartilage formation and ossification. As adults mutant animals have increased width of the long bones and accelerated bone fracture repair. Mice homozygous for an allele lacking intron 1exhibit preweaning lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444P10Rik	A	T	1: 16,151,062 (GRCm39)	M40K	possibly damaging	Het
Aak1	A	C	6: 86,964,234 (GRCm39)	N945T	unknown	Het
Abca13	C	G	11: 9,578,588 (GRCm39)	D4863E	probably damaging	Het
Abca8a	C	T	11: 109,962,245 (GRCm39)		probably null	Het
Alppl2	T	A	1: 87,015,210 (GRCm39)	N413I	probably damaging	Het
Asb13	T	A	13: 3,692,093 (GRCm39)	H24Q	probably damaging	Het
Atg9b	A	G	5: 24,596,200 (GRCm39)		probably null	Het
Atp2b4	T	A	1: 133,666,317 (GRCm39)	H245L	probably benign	Het
B3galt2	A	C	1: 143,521,883 (GRCm39)	R6S	probably damaging	Het
B4galnt2	T	C	11: 95,781,811 (GRCm39)	H118R	probably damaging	Het
Ccdc121rt2	T	A	5: 112,598,103 (GRCm39)	W217R	probably damaging	Het
Clca3b	A	G	3: 144,544,872 (GRCm39)	S372P	probably benign	Het
Cpne6	C	T	14: 55,750,060 (GRCm39)	R64C	probably damaging	Het
Csmd1	T	A	8: 16,250,059 (GRCm39)	H973L	probably damaging	Het
Dennd5b	A	T	6: 148,901,474 (GRCm39)	H1137Q	probably damaging	Het
Dnah3	G	T	7: 119,549,881 (GRCm39)	Y500*	probably null	Het
Dnajc19	A	G	3: 34,132,893 (GRCm39)	V104A	unknown	Het
Eea1	G	A	10: 95,832,901 (GRCm39)	E249K	probably damaging	Het
Eif1ad19	G	T	12: 87,740,273 (GRCm39)	Y95*	probably null	Het
Fancc	T	C	13: 63,495,285 (GRCm39)	Q213R	probably benign	Het
Gabrr1	A	G	4: 33,152,411 (GRCm39)		probably null	Het
Hgd	T	A	16: 37,431,532 (GRCm39)	V113E	probably damaging	Het
Ints7	T	C	1: 191,351,717 (GRCm39)	S809P	probably benign	Het
Lrrcc1	T	C	3: 14,602,359 (GRCm39)	C151R	probably damaging	Het
Marveld3	T	C	8: 110,675,019 (GRCm39)	S266G	possibly damaging	Het
Mdn1	C	T	4: 32,672,837 (GRCm39)	Q486*	probably null	Het
Mstn	G	T	1: 53,105,641 (GRCm39)	V328L	probably benign	Het
Ndc80	C	A	17: 71,815,573 (GRCm39)	G404V	probably benign	Het
Nelfb	T	C	2: 25,090,751 (GRCm39)	R557G	probably damaging	Het
Nol10	T	G	12: 17,419,507 (GRCm39)	V266G	possibly damaging	Het
Optc	C	A	1: 133,828,872 (GRCm39)	A245S	probably damaging	Het
Or51a43	A	G	7: 103,718,139 (GRCm39)	L33P	probably damaging	Het
Or52ae7	A	T	7: 103,119,524 (GRCm39)	I93F	probably benign	Het
Or5b111	A	T	19: 13,291,196 (GRCm39)	F151Y	probably damaging	Het
Or6c75	A	T	10: 129,336,951 (GRCm39)	Y58F	probably damaging	Het
Or8i2	T	A	2: 86,852,879 (GRCm39)	E3V	possibly damaging	Het
Pcdhb11	A	G	18: 37,556,037 (GRCm39)	T456A	possibly damaging	Het
Pkd1	A	G	17: 24,794,751 (GRCm39)	E2146G	possibly damaging	Het
Pkdrej	A	T	15: 85,702,012 (GRCm39)	I1308N	probably damaging	Het
Plekha3	A	T	2: 76,523,006 (GRCm39)	I225F	probably benign	Het
Ppp1r3c	A	T	19: 36,711,736 (GRCm39)	D11E	probably benign	Het
Pprc1	A	G	19: 46,054,118 (GRCm39)	D1155G	unknown	Het
Prcc	T	C	3: 87,792,232 (GRCm39)	K140E	probably damaging	Het
Pth1r	A	T	9: 110,554,229 (GRCm39)	V334D	possibly damaging	Het
Rab3d	G	A	9: 21,826,060 (GRCm39)	T118M	probably damaging	Het
Ric8a	A	G	7: 140,438,379 (GRCm39)	E206G	probably benign	Het
Rps17	C	A	7: 80,994,660 (GRCm39)	V34L	probably benign	Het
Serpinb13	T	C	1: 106,928,165 (GRCm39)	S262P	probably damaging	Het
Serpinb6b	T	A	13: 33,162,035 (GRCm39)	L278Q	probably damaging	Het
Slc1a3	C	T	15: 8,680,332 (GRCm39)		probably null	Het
Slc27a5	C	A	7: 12,725,090 (GRCm39)	R452S	probably benign	Het
Slc45a2	T	A	15: 11,001,122 (GRCm39)	W74R	probably damaging	Het
Slc4a2	A	G	5: 24,635,092 (GRCm39)	T175A	probably benign	Het
Sos1	C	A	17: 80,705,879 (GRCm39)	G1231C	possibly damaging	Het
Spata32	T	C	11: 103,100,143 (GRCm39)	T121A	probably damaging	Het
Srd5a3	T	A	5: 76,301,437 (GRCm39)	F222Y	probably benign	Het
Stag3	T	C	5: 138,289,666 (GRCm39)	Y279H	probably damaging	Het
Stk31	T	C	6: 49,423,134 (GRCm39)	I795T	possibly damaging	Het
Syne2	T	C	12: 76,146,197 (GRCm39)	I1665T	probably damaging	Het
Tas2r118	A	G	6: 23,970,020 (GRCm39)	Y14H	probably damaging	Het
Tmc7	G	A	7: 118,160,228 (GRCm39)	P203L	probably benign	Het
Tnik	T	G	3: 28,587,044 (GRCm39)	M105R	unknown	Het
Trrap	A	G	5: 144,740,162 (GRCm39)	T1195A	probably damaging	Het
Usf1	T	A	1: 171,245,101 (GRCm39)		probably null	Het
Usp53	G	A	3: 122,754,981 (GRCm39)	T158I	probably damaging	Het
Uty	T	C	Y: 1,099,748 (GRCm39)	E1149G	possibly damaging	Het
Vmn2r23	G	A	6: 123,719,079 (GRCm39)	V811M	possibly damaging	Het
Zfp663	T	A	2: 165,194,958 (GRCm39)	K420N	probably damaging	Het
Zfp703	T	C	8: 27,468,302 (GRCm39)	S91P	possibly damaging	Het
Zpld2	T	C	4: 133,929,712 (GRCm39)	T198A	probably damaging	Het
Zscan4-ps1	A	C	7: 10,800,250 (GRCm39)	I213S	probably benign	Het

Other mutations in Cnn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Cnn1	APN	9	22,010,693 (GRCm39)	missense	possibly damaging	0.95
IGL02206:Cnn1	APN	9	22,015,674 (GRCm39)	splice site	probably benign
spring_rolls	UTSW	9	22,019,165 (GRCm39)	missense	probably damaging	1.00
R1076:Cnn1	UTSW	9	22,019,165 (GRCm39)	missense	probably damaging	1.00
R1647:Cnn1	UTSW	9	22,019,150 (GRCm39)	missense	probably damaging	0.99
R1898:Cnn1	UTSW	9	22,012,560 (GRCm39)	critical splice donor site	probably null
R3522:Cnn1	UTSW	9	22,010,664 (GRCm39)	missense	probably benign	0.01
R5193:Cnn1	UTSW	9	22,019,132 (GRCm39)	missense	probably damaging	0.97
R5343:Cnn1	UTSW	9	22,016,706 (GRCm39)	missense	probably benign	0.41
R7172:Cnn1	UTSW	9	22,016,790 (GRCm39)	missense	probably damaging	1.00
R7205:Cnn1	UTSW	9	22,017,078 (GRCm39)	critical splice donor site	probably null
R7251:Cnn1	UTSW	9	22,019,513 (GRCm39)	missense	unknown
R8290:Cnn1	UTSW	9	22,012,447 (GRCm39)	missense	probably benign	0.35
R8725:Cnn1	UTSW	9	22,010,557 (GRCm39)	unclassified	probably benign
R8727:Cnn1	UTSW	9	22,010,557 (GRCm39)	unclassified	probably benign
R9216:Cnn1	UTSW	9	22,019,474 (GRCm39)	missense	probably benign	0.00
R9332:Cnn1	UTSW	9	22,019,350 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCAAGGCTCTGACATCAGG -3'
(R):5'- ATAGATCATGGGGTCCCCTCAC -3'

Sequencing Primer
(F):5'- GCTCTGACATCAGGAGGTG -3'
(R):5'- CTTCACCCCTGAAGCAACTGAG -3'

Posted On

2021-10-11