Mutagenetix > Incidental Mutation

Incidental Mutation 'R9784:Col9a2'

734198

Institutional Source

Beutler Lab

Gene Symbol

Col9a2

Ensembl Gene

ENSMUSG00000028626

Gene Name

collagen, type IX, alpha 2

Synonyms

Col9a-2

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9784 (G1)

Quality Score

174.009

Status

Not validated

Chromosome

Chromosomal Location

121039385-121055322 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121041029 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 46 (D46V)

Ref Sequence

ENSEMBL: ENSMUSP00000030372 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000030372
AA Change: D46V

SMART Domains

Protein: ENSMUSP00000030372
Gene: ENSMUSG00000028626
AA Change: D46V

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.0%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	G	A	5: 113,190,661	P495L	possibly damaging	Het
4931440F15Rik	A	T	11: 29,825,253	V68E	probably damaging	Het
Acly	C	T	11: 100,498,286	A557T	probably benign	Het
Adgrl4	A	T	3: 151,509,311	T446S	probably damaging	Het
AK157302	A	G	13: 21,495,598	E98G	probably damaging	Het
Akap6	A	T	12: 53,141,070	T1756S	probably damaging	Het
Aldh1l1	A	G	6: 90,564,442	T273A	probably benign	Het
Aldh1l2	T	A	10: 83,506,750		probably null	Het
Alox12	T	C	11: 70,252,839	E201G	possibly damaging	Het
Arhgef16	A	G	4: 154,286,965	V257A	probably damaging	Het
Asxl3	C	T	18: 22,517,254	L767F	probably benign	Het
Atxn7l2	T	C	3: 108,203,249	K692R	probably null	Het
Btbd2	T	C	10: 80,648,647	D145G	probably damaging	Het
Cacna1b	A	T	2: 24,761,789	M126K	possibly damaging	Het
Cacna2d2	T	A	9: 107,527,147	C1081S	probably benign	Het
Cass4	T	C	2: 172,427,833	S612P	probably benign	Het
Cd209d	A	G	8: 3,876,337	S123P	probably damaging	Het
Cep112	T	C	11: 108,570,391	S665P	probably damaging	Het
Cnp	C	T	11: 100,576,611	R127W	probably damaging	Het
Cyp1a2	T	A	9: 57,680,279	N336I	probably benign	Het
Cyp2c37	A	G	19: 40,000,499	T301A	possibly damaging	Het
Dhtkd1	T	A	2: 5,930,811	E163D	probably benign	Het
Dido1	A	T	2: 180,683,561	F611L	probably benign	Het
Dnah9	T	A	11: 66,085,134	N1363I	probably damaging	Het
Drg2	A	G	11: 60,467,722	K331R	probably benign	Het
Fam171b	T	A	2: 83,860,443	I250K	probably damaging	Het
Fut8	T	A	12: 77,412,839	I242N	probably damaging	Het
Glyat	T	C	19: 12,651,480	V247A	probably benign	Het
Gucy2e	T	C	11: 69,232,690	N461S	probably benign	Het
Hif3a	T	A	7: 17,037,151	H627L	probably benign	Het
Ighv8-5	T	A	12: 115,067,608	T104S	probably benign	Het
Ighv8-9	C	T	12: 115,468,374	V106M	probably benign	Het
Inpp5f	A	C	7: 128,676,791	D435A	possibly damaging	Het
Katna1	G	C	10: 7,762,826	E440D	probably null	Het
Kmt2c	T	C	5: 25,344,961	R1341G	probably damaging	Het
Krt14	C	T	11: 100,207,140	G106S	unknown	Het
Krt39	A	G	11: 99,518,362	C238R	possibly damaging	Het
Mak	C	T	13: 41,049,360	S204N	possibly damaging	Het
Map3k5	A	G	10: 19,935,066	Y154C	probably damaging	Het
Mgam	A	G	6: 40,759,090	Y841C	probably damaging	Het
Mgst1	A	T	6: 138,147,801	R38W	probably damaging	Het
Midn	A	G	10: 80,156,413	E433G	probably damaging	Het
Muc2	T	A	7: 141,694,542	C380*	probably null	Het
Nans	G	T	4: 46,499,129	K145N	possibly damaging	Het
Nbeal1	G	A	1: 60,260,582	W1359*	probably null	Het
Neo1	T	A	9: 58,982,220	E256V	probably benign	Het
Nkd1	C	A	8: 88,591,702	D322E	probably damaging	Het
Olfm4	T	C	14: 80,011,908	V155A	probably damaging	Het
Olfr1303	A	G	2: 111,814,259	S156P	probably damaging	Het
Olfr1445	G	A	19: 12,884,510	V210M	probably benign	Het
Olfr1461	T	A	19: 13,165,449	L145Q	probably damaging	Het
Olfr409-ps1	G	T	11: 74,317,883	C286F	unknown	Het
Olfr613	T	A	7: 103,552,059	H91Q	probably benign	Het
Olfr67	T	A	7: 103,787,525	I251F	probably benign	Het
Olfr847	A	T	9: 19,375,820	D20E	probably damaging	Het
Opa1	C	A	16: 29,618,211	S646*	probably null	Het
Pcdh15	A	T	10: 74,631,380	H1743L	probably benign	Het
Ppp1r13b	T	C	12: 111,843,685	T230A	probably benign	Het
Ptf1a	G	T	2: 19,446,570	R237L	probably benign	Het
Ripk4	G	A	16: 97,748,106	P250L	possibly damaging	Het
Ropn1l	T	C	15: 31,453,503	H14R		Het
Setdb1	T	C	3: 95,325,862	S1122G	probably damaging	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Slc22a18	T	A	7: 143,492,941	M274K	probably benign	Het
Spink5	T	G	18: 43,986,423	F267C	probably damaging	Het
Stau1	T	C	2: 166,949,775	M481V	probably benign	Het
Stk39	C	T	2: 68,368,431	G281E	probably damaging	Het
Stt3a	A	T	9: 36,758,783	L119Q	probably damaging	Het
Stx18	C	T	5: 38,039,291		probably benign	Het
Tgfbr3	G	T	5: 107,149,933	N200K	probably benign	Het
Timm8b	A	G	9: 50,604,973	E42G	probably benign	Het
Togaram1	T	A	12: 64,967,394	L473*	probably null	Het
Trappc12	A	G	12: 28,747,458	I25T	probably benign	Het
Trim33	T	C	3: 103,337,507	S737P	possibly damaging	Het
Trmt1	A	C	8: 84,697,701	H455P	probably damaging	Het
Trpc1	C	T	9: 95,717,593	R471H	possibly damaging	Het
Ttll2	T	A	17: 7,351,308	T407S	probably benign	Het
Unc45b	T	A	11: 82,926,160	N475K	probably damaging	Het
Usp48	T	A	4: 137,594,501	I40N	probably benign	Het
Wdr7	T	G	18: 63,904,165	V1220G	probably damaging	Het
Zfp830	C	T	11: 82,764,979	T203I	possibly damaging	Het
Zfp955a	T	A	17: 33,242,175	I328F	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
collision	UTSW	4	121049716	critical splice donor site	probably null
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
R4595:Col9a2	UTSW	4	121045155	missense	probably benign	0.04
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
R9120:Col9a2	UTSW	4	121043754	splice site	probably benign
R9341:Col9a2	UTSW	4	121054286	missense	probably benign	0.03
R9343:Col9a2	UTSW	4	121054286	missense	probably benign	0.03
R9389:Col9a2	UTSW	4	121054751	missense	probably benign	0.00
R9527:Col9a2	UTSW	4	121042331	critical splice donor site	probably null
R9620:Col9a2	UTSW	4	121053206	critical splice donor site	probably null
Z1176:Col9a2	UTSW	4	121053797	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGAAGCACCATCTCCTTGG -3'
(R):5'- ATAAGGACACGCTGTGAGC -3'

Sequencing Primer
(F):5'- GGGAGATGCTGCCCTAGTCAC -3'
(R):5'- GGTGGTTTTGACAGACTCCCAC -3'

Posted On

2022-11-14