Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03131:Crtap'

410330

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 #

IGL03131

Quality Score

Status

Chromosome

Chromosomal Location

114204204-114219743 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114209072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 324 (D324G)

Ref Sequence

ENSEMBL: ENSMUSP00000081941 (fasta)

Gene Model

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

AlphaFold

Q9CYD3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084881
AA Change: D324G

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000081941
Gene: ENSMUSG00000032431
AA Change: D324G

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: ENSMUST00000147689

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	C	3: 121,473,251 (GRCm39)	R135S	unknown	Het
A1bg	T	C	15: 60,791,605 (GRCm39)	Y277C	probably damaging	Het
Abca12	A	T	1: 71,385,861 (GRCm39)	F252L	probably benign	Het
Abcd3	A	T	3: 121,575,640 (GRCm39)		probably benign	Het
Acvr2b	C	A	9: 119,260,350 (GRCm39)	F364L	possibly damaging	Het
Adamts12	T	C	15: 11,345,650 (GRCm39)	C1564R	probably damaging	Het
Agap3	A	G	5: 24,682,130 (GRCm39)	T392A	probably benign	Het
Ano1	A	G	7: 144,157,322 (GRCm39)	F767L	possibly damaging	Het
Atg10	C	A	13: 91,085,412 (GRCm39)	R179I	probably null	Het
Bsph1	A	T	7: 13,207,012 (GRCm39)	K129N	probably damaging	Het
Calml4	A	G	9: 62,782,765 (GRCm39)	D77G	probably benign	Het
Cc2d1a	T	A	8: 84,870,056 (GRCm39)	K153M	probably damaging	Het
Col4a2	G	A	8: 11,475,979 (GRCm39)	V672I	probably benign	Het
Crnkl1	T	C	2: 145,774,178 (GRCm39)	K95R	probably benign	Het
Csmd1	C	T	8: 16,138,231 (GRCm39)	G1607E	probably damaging	Het
Dcbld2	T	G	16: 58,272,051 (GRCm39)	I369R	probably benign	Het
Dmc1	T	A	15: 79,452,892 (GRCm39)	I246L	probably benign	Het
Dock1	G	T	7: 134,475,912 (GRCm39)	V896L	possibly damaging	Het
Eftud2	G	A	11: 102,761,009 (GRCm39)	T112M	probably damaging	Het
F5	A	T	1: 163,989,388 (GRCm39)	I97F	possibly damaging	Het
Fasn	C	T	11: 120,701,550 (GRCm39)	V1939M	possibly damaging	Het
Gpatch2l	T	C	12: 86,328,285 (GRCm39)	V414A	probably benign	Het
Gpd2	T	C	2: 57,228,855 (GRCm39)		probably benign	Het
Gria4	T	G	9: 4,432,876 (GRCm39)	N769T	probably damaging	Het
Gtf3c2	A	T	5: 31,314,964 (GRCm39)	F885I	probably damaging	Het
Ifi209	C	T	1: 173,468,800 (GRCm39)	T210I	possibly damaging	Het
Kmt2c	A	G	5: 25,520,359 (GRCm39)	V1917A	probably benign	Het
Mad1l1	G	A	5: 140,293,458 (GRCm39)	A120V	probably benign	Het
Mef2c	T	C	13: 83,810,494 (GRCm39)	I382T	probably damaging	Het
Ms4a14	A	T	19: 11,285,056 (GRCm39)	L171I	probably benign	Het
Myf6	T	A	10: 107,330,132 (GRCm39)	Q145L	probably damaging	Het
Myh3	G	A	11: 66,981,935 (GRCm39)		probably benign	Het
Nbas	A	G	12: 13,329,417 (GRCm39)	I121V	probably benign	Het
Ncoa2	A	T	1: 13,247,398 (GRCm39)	S342T	probably damaging	Het
Nlrp1b	C	T	11: 71,052,741 (GRCm39)	D896N	possibly damaging	Het
Prss41	A	G	17: 24,061,498 (GRCm39)	Y98H	probably benign	Het
Ptpn13	A	T	5: 103,665,425 (GRCm39)	T450S	probably benign	Het
Rab39	G	A	9: 53,597,861 (GRCm39)	R135C	probably damaging	Het
Radil	A	G	5: 142,481,097 (GRCm39)	V570A	probably damaging	Het
Sbno1	C	T	5: 124,526,668 (GRCm39)	R949Q	probably damaging	Het
Sec61a2	T	A	2: 5,887,689 (GRCm39)	K98*	probably null	Het
Serbp1	T	A	6: 67,258,807 (GRCm39)		probably null	Het
Serpinb3c	G	T	1: 107,199,457 (GRCm39)	Q355K	probably benign	Het
Slc34a3	T	G	2: 25,121,246 (GRCm39)	D307A	probably benign	Het
Smarcad1	T	A	6: 65,051,937 (GRCm39)	S357T	probably damaging	Het
Spag17	G	A	3: 99,918,075 (GRCm39)	D353N	possibly damaging	Het
Spdl1	T	A	11: 34,721,592 (GRCm39)	Q39L	possibly damaging	Het
Syne2	A	C	12: 76,104,264 (GRCm39)	Q5485P	probably damaging	Het
Synj1	C	A	16: 90,785,056 (GRCm39)	V227F	probably damaging	Het
Syt12	T	C	19: 4,506,882 (GRCm39)	T88A	probably benign	Het
Tasor	C	T	14: 27,183,136 (GRCm39)	Q532*	probably null	Het
Tlr12	A	G	4: 128,509,670 (GRCm39)	F860S	probably damaging	Het
Trdn	C	A	10: 33,274,410 (GRCm39)	S461*	probably null	Het
Trip4	G	A	9: 65,764,727 (GRCm39)	P413S	probably benign	Het
Wdr17	A	G	8: 55,149,302 (GRCm39)		probably null	Het
Wnt9a	T	C	11: 59,221,855 (GRCm39)	L251P	probably damaging	Het
Xrcc1	A	T	7: 24,272,719 (GRCm39)	K618*	probably null	Het
Zfp759	T	C	13: 67,286,728 (GRCm39)	L93P	probably damaging	Het

Other mutations in Crtap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02721:Crtap	APN	9	114,210,707 (GRCm39)	missense	probably damaging	0.99
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

2016-08-02