Mutagenetix > Incidental Mutation

Incidental Mutation 'R9695:Crtap'

729226

Institutional Source

Beutler Lab

Gene Symbol

Crtap

Ensembl Gene

ENSMUSG00000032431

Gene Name

cartilage associated protein

Synonyms

P3h5, 5730529N23Rik, Leprel3, CASP

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9695 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114204204-114219743 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 114215378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 170 (Y170*)

Ref Sequence

ENSEMBL: ENSMUSP00000081941 (fasta)

Gene Model

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

AlphaFold

Q9CYD3

Predicted Effect

probably null
Transcript: ENSMUST00000084881
AA Change: Y170*

SMART Domains

Protein: ENSMUSP00000081941
Gene: ENSMUSG00000032431
AA Change: Y170*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,170,739 (GRCm39)	T1A		Het
Adgrl1	G	A	8: 84,665,060 (GRCm39)	R1249Q	probably damaging	Het
Apeh	G	A	9: 107,963,483 (GRCm39)	R580C	probably damaging	Het
Armc12	T	A	17: 28,749,993 (GRCm39)	C46S	probably benign	Het
Avpr1a	C	T	10: 122,284,845 (GRCm39)	R46C	probably damaging	Het
Cbln4	C	G	2: 171,879,469 (GRCm39)	G140R	probably damaging	Het
Ccdc89	A	G	7: 90,076,552 (GRCm39)	N254S	probably benign	Het
Cd96	T	A	16: 45,919,410 (GRCm39)	I204F	probably damaging	Het
Cel	G	T	2: 28,450,961 (GRCm39)	L101I	probably damaging	Het
Ctxn3	A	G	18: 57,610,185 (GRCm39)	M1V	probably null	Het
Cwf19l1	G	T	19: 44,101,425 (GRCm39)	H478N	probably damaging	Het
Dpysl3	A	T	18: 43,571,192 (GRCm39)	D27E	probably damaging	Het
Dsg1b	A	G	18: 20,532,389 (GRCm39)	T478A	probably damaging	Het
Dvl2	G	A	11: 69,899,976 (GRCm39)	R590Q	possibly damaging	Het
Elovl7	C	A	13: 108,416,242 (GRCm39)	Q211K	probably damaging	Het
Fech	A	G	18: 64,600,803 (GRCm39)	I233T	probably damaging	Het
Fsip2	A	T	2: 82,806,226 (GRCm39)	Q848H	probably benign	Het
Gna15	A	G	10: 81,359,752 (GRCm39)	C13R	probably damaging	Het
Gstt4	A	T	10: 75,657,072 (GRCm39)	S65T	probably benign	Het
Heatr1	T	C	13: 12,438,624 (GRCm39)	V1353A	probably damaging	Het
Hip1r	A	T	5: 124,139,916 (GRCm39)	K1006N	possibly damaging	Het
Hspg2	T	A	4: 137,265,701 (GRCm39)	V1804E	probably damaging	Het
Ifi206	T	C	1: 173,301,249 (GRCm39)	T810A	unknown	Het
Ighv1-69	T	C	12: 115,586,987 (GRCm39)	T49A	probably benign	Het
Il4i1	A	T	7: 44,489,033 (GRCm39)	D266V	probably damaging	Het
Itga3	A	T	11: 94,946,520 (GRCm39)		probably null	Het
Itpr1	A	G	6: 108,378,311 (GRCm39)	N1279S	probably damaging	Het
Madd	T	C	2: 90,992,929 (GRCm39)	T997A	probably benign	Het
Mal	C	T	2: 127,482,308 (GRCm39)	V32I	probably benign	Het
Map9	T	A	3: 82,284,292 (GRCm39)	S289T	probably benign	Het
Mmp15	G	T	8: 96,097,414 (GRCm39)	R461L	possibly damaging	Het
Nelfcd	T	A	2: 174,266,923 (GRCm39)	I395N	probably benign	Het
Neurog2	T	A	3: 127,427,694 (GRCm39)	V106E	probably damaging	Het
Nup160	T	A	2: 90,538,486 (GRCm39)	N761K	probably damaging	Het
Oasl1	G	A	5: 115,074,054 (GRCm39)	R321Q	probably damaging	Het
Oosp2	T	C	19: 11,628,994 (GRCm39)	T36A		Het
Or2a52	A	T	6: 43,144,510 (GRCm39)	I173L	probably benign	Het
Or7g22	A	G	9: 19,049,171 (GRCm39)	N294S	probably damaging	Het
Or8k30	T	C	2: 86,339,100 (GRCm39)	V99A	probably benign	Het
Or9s27	A	G	1: 92,516,595 (GRCm39)	D181G	probably benign	Het
Otx2	T	G	14: 48,899,952 (GRCm39)	S16R	probably damaging	Het
Phactr2	A	G	10: 13,349,908 (GRCm39)	S39P	unknown	Het
Piwil2	A	G	14: 70,627,349 (GRCm39)	Y797H	possibly damaging	Het
Plxna4	T	G	6: 32,183,056 (GRCm39)	Y949S	probably benign	Het
Prss35	A	G	9: 86,637,761 (GRCm39)	Y177C	probably damaging	Het
Rbm19	T	C	5: 120,335,986 (GRCm39)	I934T	probably damaging	Het
Rictor	T	G	15: 6,816,010 (GRCm39)	V1094G	probably benign	Het
Riok1	A	G	13: 38,242,676 (GRCm39)	T467A	possibly damaging	Het
Slc15a4	G	A	5: 127,694,400 (GRCm39)	R12W	possibly damaging	Het
Slc44a5	T	A	3: 153,956,588 (GRCm39)	I280K	probably damaging	Het
Slc9c1	T	C	16: 45,368,026 (GRCm39)	L205S	probably benign	Het
Slco2a1	A	G	9: 102,962,139 (GRCm39)	R604G	possibly damaging	Het
Slmap	T	A	14: 26,183,496 (GRCm39)	T296S	probably damaging	Het
Snrk	T	C	9: 121,995,640 (GRCm39)	V473A	probably benign	Het
Spart	A	G	3: 55,033,955 (GRCm39)	T394A	probably benign	Het
Stil	T	C	4: 114,881,378 (GRCm39)	S641P	probably damaging	Het
Syne1	A	G	10: 5,268,461 (GRCm39)	V2076A	probably benign	Het
Tcirg1	G	A	19: 3,952,360 (GRCm39)	A336V	probably null	Het
Tespa1	T	C	10: 130,198,285 (GRCm39)	S436P	probably benign	Het
Thumpd3	G	T	6: 113,024,622 (GRCm39)	R72L	possibly damaging	Het
Tmem70	A	C	1: 16,735,659 (GRCm39)	E43A	probably benign	Het
Vars1	A	G	17: 35,231,564 (GRCm39)	D696G	possibly damaging	Het
Vwa5b2	A	T	16: 20,422,975 (GRCm39)	H991L	probably benign	Het
Zfp160	A	G	17: 21,245,746 (GRCm39)	K99E	possibly damaging	Het
Zfp759	G	A	13: 67,287,198 (GRCm39)	V250I	possibly damaging	Het
Zmym6	T	C	4: 127,016,340 (GRCm39)	V707A	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CAACATTCTTTAGATGTCAGCACAC -3'
(R):5'- CTCGTAACTGGAAATGTCATCTAAG -3'

Sequencing Primer
(F):5'- GAGAACTACAAATTCTCCTCTGGCTG -3'
(R):5'- ATGAGACTGGCTCTATTCACGCATG -3'

Posted On

2022-10-06