Mutagenetix > Incidental Mutations

Incidental Mutation 'R4595:Col9a2'

344314

Institutional Source

Beutler Lab

Gene Symbol

Col9a2

Ensembl Gene

ENSMUSG00000028626

Gene Name

collagen, type IX, alpha 2

Synonyms

Col9a-2

MMRRC Submission

041811-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4595 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121039385-121055322 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121045155 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 196 (K196N)

Ref Sequence

ENSEMBL: ENSMUSP00000030372 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030372]

Predicted Effect

probably benign
Transcript: ENSMUST00000030372
AA Change: K196N

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000030372
Gene: ENSMUSG00000028626
AA Change: K196N

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Collagen	24	82	7.3e-12	PFAM
Pfam:Collagen	59	115	2.4e-10	PFAM
Pfam:Collagen	113	170	2e-8	PFAM
Pfam:Collagen	176	236	8.9e-11	PFAM
low complexity region	258	277	N/A	INTRINSIC
low complexity region	288	315	N/A	INTRINSIC
Pfam:Collagen	357	435	4.4e-8	PFAM
Pfam:Collagen	459	523	6.1e-11	PFAM
Pfam:Collagen	548	610	4.5e-11	PFAM
low complexity region	639	661	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151987

Meta Mutation Damage Score

0.1445

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

94% (62/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
4921536K21Rik	A	G	11: 3,890,052	I115T	probably benign	Het
Acads	A	T	5: 115,113,064	N120K	probably damaging	Het
Aco1	T	A	4: 40,167,139	C118S	probably benign	Het
Alpk2	T	C	18: 65,289,748	T1493A	probably damaging	Het
AU018091	A	G	7: 3,158,428	Y480H	possibly damaging	Het
Brd4	A	T	17: 32,198,922	I86N	probably damaging	Het
Ccdc180	A	G	4: 45,945,023	E1477G	probably damaging	Het
Ccne2	A	G	4: 11,202,986	N368S	probably benign	Het
Cenpp	A	T	13: 49,641,234	F152L	probably benign	Het
Cfap46	T	A	7: 139,652,404	D881V	possibly damaging	Het
Chmp7	A	G	14: 69,721,229	V212A	probably damaging	Het
Copg2	T	C	6: 30,749,450	D814G	probably damaging	Het
Dcaf13	G	A	15: 39,118,893	G85R	probably damaging	Het
Dnah9	A	G	11: 66,168,152	S106P	probably benign	Het
Dpp8	A	G	9: 65,075,803	D739G	probably damaging	Het
Drd2	T	A	9: 49,404,789	M283K	probably benign	Het
Espl1	A	G	15: 102,298,724	T208A	probably benign	Het
Glul	G	A	1: 153,903,050	G35D	possibly damaging	Het
Gm14412	T	C	2: 177,315,212	K297E	unknown	Het
Gm21976	A	T	13: 98,305,810	R120W	probably damaging	Het
Hipk3	T	A	2: 104,441,277	T437S	probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Lipn	T	G	19: 34,081,350	Y321D	probably damaging	Het
Lrwd1	A	G	5: 136,123,956	V484A	probably benign	Het
Madd	T	C	2: 91,167,664	D673G	possibly damaging	Het
Marveld1	T	A	19: 42,147,764	L39Q	probably damaging	Het
Mfsd2b	T	C	12: 4,865,807	T299A	possibly damaging	Het
Micu3	T	C	8: 40,359,397		probably benign	Het
Mmp7	T	C	9: 7,697,666	V234A	probably damaging	Het
Nhsl1	T	A	10: 18,527,609	D1329E	probably benign	Het
Olfr1234	C	T	2: 89,363,325	V35M	probably damaging	Het
Olfr1307	T	C	2: 111,944,652	D268G	possibly damaging	Het
Olfr622	A	G	7: 103,640,101	F13S	probably damaging	Het
Pcdhb21	T	A	18: 37,514,515	D232E	probably damaging	Het
Pebp1	G	T	5: 117,283,410	D156E	probably benign	Het
Pik3cb	A	G	9: 99,055,406	Y745H	possibly damaging	Het
Pld2	T	C	11: 70,542,020	L170P	probably damaging	Het
Ptch1	T	C	13: 63,543,608	D277G	possibly damaging	Het
Rab11fip1	A	T	8: 27,154,575	M394K	probably damaging	Het
Rhoq	T	C	17: 86,964,326	Y57H	probably benign	Het
Setbp1	T	C	18: 78,857,516	I979V	probably benign	Het
Slc6a4	A	G	11: 77,019,863	I447V	probably benign	Het
Sos2	T	C	12: 69,616,889	K607R	probably damaging	Het
Stt3a	T	C	9: 36,735,512	I602V	probably damaging	Het
Syne2	A	T	12: 75,967,071	Q3012L	possibly damaging	Het
Taf1b	T	A	12: 24,500,442	F9I	possibly damaging	Het
Tex35	T	A	1: 157,099,339	Y195F	probably benign	Het
Tnc	T	C	4: 63,995,745	T1277A	probably damaging	Het
Tnfsf15	G	T	4: 63,729,943	Y153*	probably null	Het
Trim5	C	A	7: 104,265,432	V477F	probably damaging	Het
Trp73	A	G	4: 154,064,417	I245T	probably damaging	Het
Zbtb16	C	T	9: 48,832,080	E311K	possibly damaging	Het
Zmynd19	A	G	2: 24,958,988	D165G	probably damaging	Het

Other mutations in Col9a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01331:Col9a2	APN	4	121045192	missense	possibly damaging	0.95
IGL01978:Col9a2	APN	4	121044666	missense	unknown
IGL01995:Col9a2	APN	4	121050410	critical splice donor site	probably null
IGL02162:Col9a2	APN	4	121054334	unclassified	probably benign
IGL02931:Col9a2	APN	4	121053192	missense	probably benign	0.06
gravity_wave	UTSW	4	121044019	critical splice donor site	probably null
R0208:Col9a2	UTSW	4	121052288	splice site	probably benign
R0426:Col9a2	UTSW	4	121044660	splice site	probably benign
R0512:Col9a2	UTSW	4	121054307	missense	probably benign	0.22
R0973:Col9a2	UTSW	4	121039788	critical splice donor site	probably null
R1023:Col9a2	UTSW	4	121044010	missense	unknown
R1657:Col9a2	UTSW	4	121040974	missense	unknown
R1724:Col9a2	UTSW	4	121053902	missense	probably damaging	1.00
R2171:Col9a2	UTSW	4	121045001	nonsense	probably null
R2206:Col9a2	UTSW	4	121054258	missense	probably damaging	0.98
R2221:Col9a2	UTSW	4	121054258	missense	probably damaging	0.98
R2223:Col9a2	UTSW	4	121054258	missense	probably damaging	0.98
R2273:Col9a2	UTSW	4	121054258	missense	probably damaging	0.98
R2274:Col9a2	UTSW	4	121054258	missense	probably damaging	0.98
R2275:Col9a2	UTSW	4	121054258	missense	probably damaging	0.98
R2354:Col9a2	UTSW	4	121054258	missense	probably damaging	0.98
R2392:Col9a2	UTSW	4	121054258	missense	probably damaging	0.98
R2393:Col9a2	UTSW	4	121054258	missense	probably damaging	0.98
R2394:Col9a2	UTSW	4	121054258	missense	probably damaging	0.98
R3421:Col9a2	UTSW	4	121054258	missense	probably damaging	0.98
R3426:Col9a2	UTSW	4	121050407	missense	possibly damaging	0.93
R3710:Col9a2	UTSW	4	121054258	missense	probably damaging	0.98
R3821:Col9a2	UTSW	4	121054258	missense	probably damaging	0.98
R3838:Col9a2	UTSW	4	121054258	missense	probably damaging	0.98
R3839:Col9a2	UTSW	4	121054258	missense	probably damaging	0.98
R4067:Col9a2	UTSW	4	121052389	missense	probably damaging	1.00
R4298:Col9a2	UTSW	4	121054258	missense	probably damaging	0.98
R4299:Col9a2	UTSW	4	121054258	missense	probably damaging	0.98
R4942:Col9a2	UTSW	4	121053119	missense	possibly damaging	0.73
R5120:Col9a2	UTSW	4	121039772	missense	unknown
R5434:Col9a2	UTSW	4	121040965	nonsense	probably null
R6143:Col9a2	UTSW	4	121053863	missense	probably damaging	0.99
R7027:Col9a2	UTSW	4	121044019	critical splice donor site	probably null
R7056:Col9a2	UTSW	4	121049716	critical splice donor site	probably null
R7417:Col9a2	UTSW	4	121054292	missense	not run
R7571:Col9a2	UTSW	4	121039784	missense	unknown
Z1176:Col9a2	UTSW	4	121053797	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGCTCAGCTGGCCTTGAC -3'
(R):5'- AATAAGAGACCCAGTGGCCTC -3'

Sequencing Primer
(F):5'- ACCTCAAGGCCTTATAGGATTTTC -3'
(R):5'- TCCTGCCCCTCAGCACAG -3'

Posted On

2015-09-25