Mutagenetix > Incidental Mutation

Incidental Mutation 'R5193:Cnn1'

399850

Institutional Source

Beutler Lab

Gene Symbol

Cnn1

Ensembl Gene

ENSMUSG00000001349

Gene Name

calponin 1

Synonyms

CnnI, calponin h1, CN

MMRRC Submission

042769-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5193 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22010501-22020517 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22019132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 196 (D196V)

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: D196V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000001384
Gene: ENSMUSG00000001349
AA Change: D196V

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 damaging
Transcript: ENSMUST00000214601
AA Change: D196V

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216141

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216872
AA Change: D146V

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	A	T	2: 150,677,226 (GRCm39)	*56R	probably null	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Arfgap3	C	T	15: 83,216,898 (GRCm39)	A156T	probably benign	Het
Bpifc	T	C	10: 85,836,497 (GRCm39)	T3A	probably benign	Het
Ccdc7a	T	A	8: 129,715,278 (GRCm39)	I269L	probably benign	Het
Cd151	A	G	7: 141,050,606 (GRCm39)	Y253C	probably damaging	Het
Cenpl	C	A	1: 160,911,037 (GRCm39)	S328*	probably null	Het
Cfl1	T	A	19: 5,542,580 (GRCm39)	V20D	probably damaging	Het
Clec14a	A	G	12: 58,315,400 (GRCm39)	L74P	probably damaging	Het
Cst13	C	A	2: 148,670,143 (GRCm39)	C104*	probably null	Het
Det1	A	G	7: 78,493,302 (GRCm39)	V234A	probably damaging	Het
Efnb2	A	G	8: 8,673,162 (GRCm39)	M165T	probably damaging	Het
Fbxo10	T	A	4: 45,051,573 (GRCm39)	K339*	probably null	Het
Fnta	A	T	8: 26,501,246 (GRCm39)		probably null	Het
Fsip2	A	T	2: 82,813,338 (GRCm39)	Y3219F	possibly damaging	Het
Gprin2	C	T	14: 33,916,832 (GRCm39)	V313M	possibly damaging	Het
Hars1	A	G	18: 36,900,358 (GRCm39)	L448S	possibly damaging	Het
Hipk3	A	G	2: 104,260,345 (GRCm39)	I1166T	possibly damaging	Het
Il31ra	T	C	13: 112,660,864 (GRCm39)	E602G	probably benign	Het
Kctd15	A	G	7: 34,344,282 (GRCm39)	L123P	probably damaging	Het
Kifbp	T	C	10: 62,395,175 (GRCm39)	D489G	possibly damaging	Het
Krt1	C	A	15: 101,754,357 (GRCm39)	S631I	unknown	Het
Lancl1	T	A	1: 67,060,173 (GRCm39)	Y84F	probably benign	Het
Lcor	A	G	19: 41,570,969 (GRCm39)	D54G	probably damaging	Het
Mafa	G	T	15: 75,619,666 (GRCm39)	P36T	unknown	Het
Magi2	G	A	5: 20,563,970 (GRCm39)		probably null	Het
Mcm9	T	A	10: 53,492,134 (GRCm39)	I396F	probably damaging	Het
Mrgprh	T	C	17: 13,095,942 (GRCm39)	F61L	probably damaging	Het
Or10g1b	A	G	14: 52,628,069 (GRCm39)	W54R	probably benign	Het
Or1e16	TAGCGGTCGTA	T	11: 73,286,479 (GRCm39)		probably null	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or51a7	T	A	7: 102,615,143 (GRCm39)	F279I	possibly damaging	Het
Or5w17	A	T	2: 87,583,448 (GRCm39)	D296E	possibly damaging	Het
Pcsk5	T	A	19: 17,542,174 (GRCm39)	T806S	possibly damaging	Het
Pigc	T	C	1: 161,798,465 (GRCm39)	I149T	possibly damaging	Het
Pou5f2	C	A	13: 78,173,083 (GRCm39)	N8K	probably benign	Het
Pou6f2	T	C	13: 18,300,129 (GRCm39)		probably benign	Het
Prl3d2	T	A	13: 27,306,312 (GRCm39)	M13K	possibly damaging	Het
Pzp	T	C	6: 128,479,297 (GRCm39)	N619D	probably benign	Het
Rnps1	G	A	17: 24,637,517 (GRCm39)	S53N	probably benign	Het
Scaf8	C	G	17: 3,240,440 (GRCm39)	A604G	probably benign	Het
Scn10a	T	C	9: 119,438,721 (GRCm39)	N1716S	probably damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc34a1	A	G	13: 24,003,845 (GRCm39)		probably null	Het
Syne2	A	G	12: 76,141,194 (GRCm39)	D6102G	probably damaging	Het
Tbc1d16	A	T	11: 119,049,646 (GRCm39)	D283E	probably benign	Het
Tet1	T	C	10: 62,674,026 (GRCm39)	D1350G	probably benign	Het
Trpa1	A	G	1: 14,946,141 (GRCm39)	Y997H	possibly damaging	Het
Tyro3	T	C	2: 119,640,998 (GRCm39)	L494P	probably damaging	Het
Uba6	G	T	5: 86,272,281 (GRCm39)	Q803K	probably benign	Het
Vgll2	T	A	10: 51,904,088 (GRCm39)	L317Q	possibly damaging	Het
Wdr62	A	T	7: 29,964,592 (GRCm39)	I384N	probably damaging	Het
Wdtc1	G	A	4: 133,021,678 (GRCm39)	R619*	probably null	Het
Xkr6	A	G	14: 64,056,356 (GRCm39)	D89G	possibly 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
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
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'- AGGATTCCAGTTGACAGGATG -3'
(R):5'- AGACCTGGCTCAAAGATCTGC -3'

Sequencing Primer
(F):5'- TTGACAGGATGTGGGCCAC -3'
(R):5'- TCAAAGATCTGCCGCTTGG -3'

Posted On

2016-07-06