Mutagenetix > Incidental Mutation

Incidental Mutation 'R1647:Cnn1'

173956

Institutional Source

Beutler Lab

Gene Symbol

Cnn1

Ensembl Gene

ENSMUSG00000001349

Gene Name

calponin 1

Synonyms

CnnI, calponin h1, CN

MMRRC Submission

039683-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1647 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22010501-22020517 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 22019150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 202 (A202E)

Ref Sequence

ENSEMBL: ENSMUSP00000001384 (fasta)

Gene Model

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

AlphaFold

Q08091

Predicted Effect

probably damaging
Transcript: ENSMUST00000001384
AA Change: A202E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000001384
Gene: ENSMUSG00000001349
AA Change: A202E

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

possibly damaging
Transcript: ENSMUST00000214601
AA Change: A202E

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216141

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216872
AA Change: A152E

PolyPhen 2 Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.0880

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

97% (70/72)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	G	4: 109,362,768 (GRCm39)	S184P	probably damaging	Het
Adgb	A	G	10: 10,271,115 (GRCm39)	F817L	probably damaging	Het
Anxa10	T	C	8: 62,545,618 (GRCm39)	D38G	probably damaging	Het
Atp8b2	G	A	3: 89,849,091 (GRCm39)	A1081V	probably benign	Het
Baz1a	G	A	12: 55,021,983 (GRCm39)	R100C	probably damaging	Het
Ceacam18	A	C	7: 43,288,689 (GRCm39)	T147P	possibly damaging	Het
Cep170b	C	T	12: 112,702,806 (GRCm39)	T423I	probably damaging	Het
Chd6	A	G	2: 160,883,978 (GRCm39)	L89S	probably damaging	Het
Chrm3	A	T	13: 9,928,461 (GRCm39)	W192R	probably damaging	Het
Dcaf7	T	A	11: 105,942,628 (GRCm39)	F192I	probably damaging	Het
Eif2b5	T	C	16: 20,321,335 (GRCm39)	V296A	possibly damaging	Het
Entpd7	A	G	19: 43,710,184 (GRCm39)		probably benign	Het
Esr1	A	G	10: 4,951,260 (GRCm39)	E546G	possibly damaging	Het
Etaa1	C	A	11: 17,896,492 (GRCm39)	G542C	probably damaging	Het
Exosc8	A	T	3: 54,641,522 (GRCm39)		probably null	Het
Fras1	T	A	5: 96,874,472 (GRCm39)		probably null	Het
G930045G22Rik	T	C	6: 50,823,698 (GRCm39)		noncoding transcript	Het
Gm22697+Rbm27	AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC	AGGTCCCGGCCCAGGCCC	18: 42,434,948 (GRCm39)		probably benign	Het
Gpr155	T	C	2: 73,194,508 (GRCm39)		probably null	Het
Has1	A	G	17: 18,070,247 (GRCm39)	Y225H	probably damaging	Het
Hk3	A	G	13: 55,162,274 (GRCm39)	F110S	probably damaging	Het
Iars1	A	G	13: 49,876,478 (GRCm39)	K848E	possibly damaging	Het
Il22ra1	C	A	4: 135,477,771 (GRCm39)	H281N	probably damaging	Het
Inpp4b	G	T	8: 82,583,403 (GRCm39)		probably benign	Het
Itga11	A	G	9: 62,667,652 (GRCm39)	N662D	probably benign	Het
Kif20b	A	T	19: 34,914,190 (GRCm39)	T355S	possibly damaging	Het
Kif21a	T	C	15: 90,878,570 (GRCm39)	T237A	probably damaging	Het
Klc1	T	C	12: 111,743,321 (GRCm39)	L216P	probably damaging	Het
Krt84	G	A	15: 101,434,398 (GRCm39)	S523F	possibly damaging	Het
Lama3	A	G	18: 12,665,256 (GRCm39)	D2330G	possibly damaging	Het
Lamb2	G	A	9: 108,358,622 (GRCm39)		probably null	Het
Limch1	T	A	5: 67,156,599 (GRCm39)	S511R	probably damaging	Het
Lnx2	C	A	5: 146,964,152 (GRCm39)	V468L	probably benign	Het
Lrriq1	A	T	10: 103,006,509 (GRCm39)	C1205*	probably null	Het
Lsm4	A	G	8: 71,130,456 (GRCm39)	Y25C	probably damaging	Het
Macc1	T	C	12: 119,410,156 (GRCm39)	M308T	probably benign	Het
Miip	T	C	4: 147,949,691 (GRCm39)	S174G	probably benign	Het
Mroh9	T	G	1: 162,873,625 (GRCm39)	E510A	probably damaging	Het
Msh2	C	T	17: 87,980,064 (GRCm39)	A14V	probably benign	Het
Nbea	T	A	3: 55,537,650 (GRCm39)	I2828F	probably damaging	Het
Nkx2-3	A	T	19: 43,602,895 (GRCm39)	Q167L	probably damaging	Het
Nup160	T	C	2: 90,540,432 (GRCm39)	Y854H	probably damaging	Het
Or10a3n	A	G	7: 108,492,972 (GRCm39)	I214T	probably damaging	Het
Or51a10	A	G	7: 103,699,376 (GRCm39)	Y62H	probably damaging	Het
Or5an10	T	A	19: 12,276,023 (GRCm39)	I158L	probably benign	Het
Pate9	A	G	9: 36,445,736 (GRCm39)	S72P	possibly damaging	Het
Phldb1	G	A	9: 44,626,730 (GRCm39)	P572S	probably damaging	Het
Plcb2	A	T	2: 118,554,261 (GRCm39)	M64K	possibly damaging	Het
Prr12	T	A	7: 44,683,616 (GRCm39)	N1683Y	probably benign	Het
Prrg4	C	A	2: 104,663,088 (GRCm39)	A173S	probably benign	Het
Pygl	T	A	12: 70,243,784 (GRCm39)	I553F	possibly damaging	Het
Rasd1	T	C	11: 59,854,920 (GRCm39)	M187V	probably benign	Het
Rasgrf1	A	G	9: 89,835,973 (GRCm39)	I234V	probably benign	Het
Rps6ka4	C	A	19: 6,816,730 (GRCm39)	V118L	probably benign	Het
Sbspon	C	A	1: 15,953,983 (GRCm39)	R99L	probably damaging	Het
Sdhaf3	T	C	6: 6,956,126 (GRCm39)	Y34H	probably damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Shc2	T	A	10: 79,461,945 (GRCm39)	M367L	probably benign	Het
Slc26a5	T	A	5: 22,018,974 (GRCm39)	K590*	probably null	Het
Slc39a12	T	C	2: 14,456,803 (GRCm39)	V597A	probably benign	Het
Slc45a3	G	A	1: 131,905,262 (GRCm39)	G81D	probably damaging	Het
Spata2l	T	C	8: 123,960,041 (GRCm39)	N416S	probably benign	Het
Tdrd6	A	C	17: 43,938,000 (GRCm39)	V1016G	possibly damaging	Het
Tet2	A	G	3: 133,191,641 (GRCm39)	V931A	probably benign	Het
Tmem190	A	G	7: 4,787,120 (GRCm39)	D108G	probably damaging	Het
Trip11	T	A	12: 101,850,651 (GRCm39)	K853*	probably null	Het
Vmn2r111	A	T	17: 22,788,042 (GRCm39)	D436E	probably benign	Het
Zfp704	A	T	3: 9,536,099 (GRCm39)	S140R	probably damaging	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
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
R8966:Cnn1	UTSW	9	22,010,716 (GRCm39)	critical splice donor site	probably null
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'- GCCAGGATTCCAGTTGACAGGATG -3'
(R):5'- AAGCTGACGTTGAGTGTGTCGC -3'

Sequencing Primer
(F):5'- GGCCACACGTTGAATCTTG -3'
(R):5'- AGACCTGGCTCAAAGATCTG -3'

Posted On

2014-04-24