Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02721:Crtap'

305006

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Crtap

Ensembl Gene

ENSMUSG00000032431

Gene Name

cartilage associated protein

Synonyms

P3h5, 5730529N23Rik, Leprel3, CASP

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

IGL02721

Quality Score

Status

Chromosome

Chromosomal Location

114204204-114219743 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114210707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 289 (V289E)

Ref Sequence

ENSEMBL: ENSMUSP00000081941 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084881]

AlphaFold

Q9CYD3

Predicted Effect

probably damaging
Transcript: ENSMUST00000084881
AA Change: V289E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000081941
Gene: ENSMUSG00000032431
AA Change: V289E

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
internal_repeat_1	39	188	1.53e-14	PROSPERO
internal_repeat_1	201	338	1.53e-14	PROSPERO
low complexity region	380	398	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124664

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151377

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes develop kyphoscoliosis and osteoporosis as a result of defects in bone formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	A	9: 55,888,124 (GRCm39)	I398L	probably benign	Het
4931414P19Rik	A	G	14: 54,823,202 (GRCm39)	S332P	probably damaging	Het
Abca7	T	C	10: 79,849,469 (GRCm39)	S1877P	possibly damaging	Het
Adora2b	G	T	11: 62,155,931 (GRCm39)	A127S	probably damaging	Het
Ahnak	A	G	19: 8,987,071 (GRCm39)	K2785R	probably benign	Het
Anapc2	G	A	2: 25,164,680 (GRCm39)	W21*	probably null	Het
Atp7b	A	G	8: 22,512,493 (GRCm39)	S457P	probably benign	Het
Catsperb	A	G	12: 101,591,556 (GRCm39)	Q1046R	probably null	Het
Comp	A	T	8: 70,828,731 (GRCm39)	N188Y	probably damaging	Het
Crnkl1	A	T	2: 145,765,801 (GRCm39)	I423K	possibly damaging	Het
Ctnna2	T	C	6: 76,958,852 (GRCm39)	N454S	probably damaging	Het
Dnah5	A	T	15: 28,234,389 (GRCm39)		probably null	Het
Dstyk	T	G	1: 132,377,054 (GRCm39)	V220G	probably benign	Het
E230025N22Rik	C	T	18: 36,828,664 (GRCm39)	V5M	probably damaging	Het
Fam111a	T	G	19: 12,564,336 (GRCm39)	N28K	probably benign	Het
Fbxo32	A	G	15: 58,046,358 (GRCm39)	I284T	possibly damaging	Het
Fgb	A	C	3: 82,950,674 (GRCm39)	V360G	possibly damaging	Het
Gm3404	A	T	5: 146,463,738 (GRCm39)	R128*	probably null	Het
Hal	G	T	10: 93,343,360 (GRCm39)	G535*	probably null	Het
Ifna1	A	G	4: 88,768,523 (GRCm39)	D67G	probably benign	Het
Igsf5	T	A	16: 96,192,222 (GRCm39)	S274T	probably damaging	Het
Kdm7a	C	T	6: 39,150,371 (GRCm39)	A134T	possibly damaging	Het
Klhl25	G	T	7: 75,516,648 (GRCm39)	W518L	probably damaging	Het
Map1a	A	T	2: 121,134,518 (GRCm39)	D1778V	probably benign	Het
Nif3l1	A	G	1: 58,497,008 (GRCm39)	D311G	probably damaging	Het
Numa1	A	G	7: 101,649,118 (GRCm39)	T950A	probably benign	Het
Nup54	A	T	5: 92,565,716 (GRCm39)	I406N	possibly damaging	Het
Or10ab5	G	T	7: 108,245,582 (GRCm39)	S67*	probably null	Het
Or2y1d	T	A	11: 49,321,468 (GRCm39)	L55*	probably null	Het
Or6c210	C	T	10: 129,495,824 (GRCm39)	P50S	probably benign	Het
Or6c211	A	T	10: 129,505,992 (GRCm39)	I132N	probably benign	Het
Pcdhb18	T	A	18: 37,623,084 (GRCm39)	M138K	probably benign	Het
Pik3c2g	A	G	6: 139,682,699 (GRCm39)	T27A	probably benign	Het
Plekhb2	A	G	1: 34,908,445 (GRCm39)	N163S	probably benign	Het
Ros1	G	A	10: 52,048,927 (GRCm39)		probably benign	Het
Sh3gl1	A	G	17: 56,324,577 (GRCm39)	L357P	possibly damaging	Het
Skint5	T	A	4: 113,799,746 (GRCm39)	D141V	probably damaging	Het
Slc10a5	A	G	3: 10,399,595 (GRCm39)	V355A	probably benign	Het
Speer1c	T	C	5: 10,293,883 (GRCm39)	K106E	probably damaging	Het
Ssh2	G	T	11: 77,345,551 (GRCm39)	G1179*	probably null	Het
Syde2	A	G	3: 145,707,759 (GRCm39)	N566S	probably damaging	Het
Sytl1	T	C	4: 132,986,189 (GRCm39)	R149G	probably benign	Het
Tnpo2	A	G	8: 85,781,319 (GRCm39)		probably null	Het
Top2b	T	C	14: 16,409,236 (GRCm38)	L793P	probably damaging	Het
U2surp	T	A	9: 95,356,488 (GRCm39)	E789D	probably benign	Het
Vps13c	G	A	9: 67,871,431 (GRCm39)		probably benign	Het
Zbtb34	C	T	2: 33,301,270 (GRCm39)	G424R	probably damaging	Het
Zfhx4	A	G	3: 5,308,367 (GRCm39)	D531G	possibly damaging	Het
Zfp787	C	T	7: 6,135,463 (GRCm39)		probably null	Het

Other mutations in Crtap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03131:Crtap	APN	9	114,209,072 (GRCm39)	missense	possibly damaging	0.88
IGL03155:Crtap	APN	9	114,209,117 (GRCm39)	missense	possibly damaging	0.68
R2014:Crtap	UTSW	9	114,210,653 (GRCm39)	critical splice donor site	probably null
R2143:Crtap	UTSW	9	114,209,036 (GRCm39)	missense	probably damaging	1.00
R4572:Crtap	UTSW	9	114,213,874 (GRCm39)	missense	probably benign	0.41
R4781:Crtap	UTSW	9	114,215,304 (GRCm39)	missense	probably benign	0.01
R5055:Crtap	UTSW	9	114,219,208 (GRCm39)	missense	probably benign	0.36
R5157:Crtap	UTSW	9	114,213,860 (GRCm39)	missense	probably damaging	1.00
R5733:Crtap	UTSW	9	114,207,164 (GRCm39)	missense	probably benign	0.07
R6858:Crtap	UTSW	9	114,209,084 (GRCm39)	missense	probably damaging	1.00
R6906:Crtap	UTSW	9	114,210,700 (GRCm39)	missense	probably benign	0.42
R7006:Crtap	UTSW	9	114,215,391 (GRCm39)	missense	probably damaging	1.00
R7156:Crtap	UTSW	9	114,207,164 (GRCm39)	missense	probably benign	0.07
R7705:Crtap	UTSW	9	114,210,747 (GRCm39)	missense	probably damaging	1.00
R9695:Crtap	UTSW	9	114,215,378 (GRCm39)	nonsense	probably null

Posted On

2015-04-16