Mutagenetix > Incidental Mutation

Incidental Mutation 'R7417:Col9a2'

575370

Institutional Source

Beutler Lab

Gene Symbol

Col9a2

Ensembl Gene

ENSMUSG00000028626

Gene Name

collagen, type IX, alpha 2

Synonyms

Col9a-2

MMRRC Submission

045495-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7417 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120896763-120912522 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120911489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 610 (R610H)

Ref Sequence

ENSEMBL: ENSMUSP00000030372 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

not run
Transcript: ENSMUST00000030372
AA Change: R610H

SMART Domains

Protein: ENSMUSP00000030372
Gene: ENSMUSG00000028626
AA Change: R610H

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	G	A	17: 48,460,057 (GRCm39)	T213I	probably damaging	Het
Akr1b7	G	A	6: 34,394,300 (GRCm39)		probably null	Het
Aldh6a1	T	C	12: 84,488,556 (GRCm39)	Q110R	probably benign	Het
Alg11	A	T	8: 22,552,044 (GRCm39)	T63S	probably benign	Het
Ankrd13b	A	G	11: 77,367,020 (GRCm39)	Y271H	probably damaging	Het
Ano8	T	A	8: 71,933,477 (GRCm39)	D605V	unknown	Het
Best2	C	T	8: 85,736,295 (GRCm39)		probably null	Het
Brca1	A	G	11: 101,415,807 (GRCm39)	S776P	probably damaging	Het
Capn7	T	C	14: 31,092,663 (GRCm39)	Y737H	probably damaging	Het
Cblc	A	T	7: 19,522,899 (GRCm39)	S333T	probably benign	Het
Ccm2	T	A	11: 6,543,091 (GRCm39)	M257K	probably benign	Het
Cd320	T	A	17: 34,066,530 (GRCm39)	C103*	probably null	Het
Cd53	A	G	3: 106,676,235 (GRCm39)	F44S	probably benign	Het
Cubn	T	C	2: 13,431,778 (GRCm39)	I1272V	probably benign	Het
Cyp2j7	C	T	4: 96,090,225 (GRCm39)		probably null	Het
Dmrt2	A	T	19: 25,655,962 (GRCm39)	R520S	probably benign	Het
Dnai3	A	T	3: 145,798,835 (GRCm39)		probably null	Het
Drg2	A	G	11: 60,345,506 (GRCm39)	M1V	probably null	Het
Ect2	A	G	3: 27,152,568 (GRCm39)	S908P	probably damaging	Het
Eipr1	A	G	12: 28,916,954 (GRCm39)	T341A	probably benign	Het
Ell3	A	C	2: 121,270,891 (GRCm39)	I214R	probably benign	Het
Emsy	A	T	7: 98,264,693 (GRCm39)	L568Q	probably damaging	Het
Foxd4	T	C	19: 24,877,826 (GRCm39)	T125A	probably damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Gcsam	C	A	16: 45,440,240 (GRCm39)	H94Q	probably damaging	Het
Ginm1	T	A	10: 7,649,844 (GRCm39)	I150F	probably damaging	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Hk2	G	A	6: 82,720,326 (GRCm39)	A205V	probably damaging	Het
Il3ra	A	T	14: 14,349,345 (GRCm38)	H147L	probably benign	Het
Map3k6	T	A	4: 132,975,707 (GRCm39)	S732T	probably benign	Het
Masp2	A	G	4: 148,690,178 (GRCm39)	E229G	probably benign	Het
Mccc2	A	G	13: 100,108,285 (GRCm39)		probably null	Het
Mia3	A	G	1: 183,108,508 (GRCm39)	V359A		Het
Mob1a	A	T	6: 83,309,492 (GRCm39)	T80S	probably benign	Het
Msantd2	G	A	9: 37,434,590 (GRCm39)	G478S	probably damaging	Het
Mtf1	A	G	4: 124,718,974 (GRCm39)	E329G	probably null	Het
Myh9	T	A	15: 77,648,065 (GRCm39)	K1804*	probably null	Het
Ndst3	A	G	3: 123,465,313 (GRCm39)	W220R	probably damaging	Het
Nln	A	G	13: 104,173,478 (GRCm39)	L576P	probably damaging	Het
Nlrc4	A	G	17: 74,753,483 (GRCm39)	M300T	probably benign	Het
Obscn	G	T	11: 59,020,403 (GRCm39)	D880E	possibly damaging	Het
Oprd1	T	C	4: 131,844,763 (GRCm39)	T82A	probably damaging	Het
Or2n1d	T	A	17: 38,646,183 (GRCm39)	I45N	probably damaging	Het
Or4f60	A	C	2: 111,902,445 (GRCm39)	V161G	probably benign	Het
Orc3	A	G	4: 34,595,136 (GRCm39)	C278R	probably damaging	Het
Pde4d	T	A	13: 109,769,322 (GRCm39)		probably null	Het
Pms1	T	C	1: 53,236,231 (GRCm39)	E683G	probably benign	Het
Prdm2	A	T	4: 142,905,869 (GRCm39)	Y73N	probably damaging	Het
Prkaa2	T	C	4: 104,932,740 (GRCm39)	Q36R	probably benign	Het
Psg22	A	G	7: 18,456,891 (GRCm39)	E258G	probably damaging	Het
Ptprf	T	C	4: 118,069,369 (GRCm39)	D1566G	probably damaging	Het
Rfwd3	T	A	8: 111,999,701 (GRCm39)	Y759F	probably benign	Het
Ripor2	A	G	13: 24,880,533 (GRCm39)	D411G	probably damaging	Het
Ryr2	A	C	13: 11,571,634 (GRCm39)		probably null	Het
Sdr42e1	T	C	8: 118,389,490 (GRCm39)	T384A	probably benign	Het
Sec1	A	T	7: 45,334,149 (GRCm39)		probably null	Het
Sec16a	A	T	2: 26,311,409 (GRCm39)	F616I		Het
Sipa1l2	T	C	8: 126,208,845 (GRCm39)	D521G	possibly damaging	Het
Smc1b	T	A	15: 84,981,743 (GRCm39)	Q759L	probably benign	Het
Snph	A	T	2: 151,442,263 (GRCm39)	S57R	probably damaging	Het
Sqor	A	T	2: 122,629,450 (GRCm39)	T103S	probably benign	Het
Srbd1	A	G	17: 86,443,749 (GRCm39)	V159A	probably benign	Het
Srsf2	A	T	11: 116,743,727 (GRCm39)	V10E	probably damaging	Het
Swap70	T	A	7: 109,863,316 (GRCm39)		probably null	Het
Synm	A	C	7: 67,382,954 (GRCm39)	*675G	probably null	Het
Tek	A	G	4: 94,699,582 (GRCm39)	E320G	probably benign	Het
Tenm3	T	C	8: 48,689,218 (GRCm39)	D2123G	probably damaging	Het
Tmod4	A	G	3: 95,033,174 (GRCm39)	K56R	possibly damaging	Het
Top3b	G	A	16: 16,695,714 (GRCm39)		probably benign	Het
Tssc4	G	T	7: 142,624,425 (GRCm39)	E244D	possibly damaging	Het
Twnk	G	A	19: 44,999,003 (GRCm39)		probably null	Het
Ube4a	A	C	9: 44,868,011 (GRCm39)	I45S	probably benign	Het
Unc79	A	T	12: 103,055,017 (GRCm39)	M954L	possibly damaging	Het
Vcpip1	A	T	1: 9,816,540 (GRCm39)	D614E	probably benign	Het
Vmn1r45	T	A	6: 89,910,035 (GRCm39)	I312L	probably benign	Het
Vmn1r77	A	G	7: 11,775,611 (GRCm39)	Y129C	probably damaging	Het
Zer1	A	G	2: 29,992,834 (GRCm39)	L600P	probably damaging	Het
Zfp266	T	C	9: 20,412,232 (GRCm39)	T114A	probably benign	Het
Zrsr2-ps1	T	C	11: 22,924,662 (GRCm39)		probably null	Het

Other mutations in Col9a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01331:Col9a2	APN	4	120,902,389 (GRCm39)	missense	possibly damaging	0.95
IGL01978:Col9a2	APN	4	120,901,863 (GRCm39)	missense	unknown
IGL01995:Col9a2	APN	4	120,907,607 (GRCm39)	critical splice donor site	probably null
IGL02162:Col9a2	APN	4	120,911,531 (GRCm39)	unclassified	probably benign
IGL02931:Col9a2	APN	4	120,910,389 (GRCm39)	missense	probably benign	0.06
collision	UTSW	4	120,906,913 (GRCm39)	critical splice donor site	probably null
gravity_wave	UTSW	4	120,901,216 (GRCm39)	critical splice donor site	probably null
R0208:Col9a2	UTSW	4	120,909,485 (GRCm39)	splice site	probably benign
R0426:Col9a2	UTSW	4	120,901,857 (GRCm39)	splice site	probably benign
R0512:Col9a2	UTSW	4	120,911,504 (GRCm39)	missense	probably benign	0.22
R0973:Col9a2	UTSW	4	120,896,985 (GRCm39)	critical splice donor site	probably null
R1023:Col9a2	UTSW	4	120,901,207 (GRCm39)	missense	unknown
R1657:Col9a2	UTSW	4	120,898,171 (GRCm39)	missense	unknown
R1724:Col9a2	UTSW	4	120,911,099 (GRCm39)	missense	probably damaging	1.00
R2171:Col9a2	UTSW	4	120,902,198 (GRCm39)	nonsense	probably null
R2206:Col9a2	UTSW	4	120,911,455 (GRCm39)	missense	probably damaging	0.98
R2221:Col9a2	UTSW	4	120,911,455 (GRCm39)	missense	probably damaging	0.98
R2223:Col9a2	UTSW	4	120,911,455 (GRCm39)	missense	probably damaging	0.98
R2273:Col9a2	UTSW	4	120,911,455 (GRCm39)	missense	probably damaging	0.98
R2274:Col9a2	UTSW	4	120,911,455 (GRCm39)	missense	probably damaging	0.98
R2275:Col9a2	UTSW	4	120,911,455 (GRCm39)	missense	probably damaging	0.98
R2354:Col9a2	UTSW	4	120,911,455 (GRCm39)	missense	probably damaging	0.98
R2392:Col9a2	UTSW	4	120,911,455 (GRCm39)	missense	probably damaging	0.98
R2393:Col9a2	UTSW	4	120,911,455 (GRCm39)	missense	probably damaging	0.98
R2394:Col9a2	UTSW	4	120,911,455 (GRCm39)	missense	probably damaging	0.98
R3421:Col9a2	UTSW	4	120,911,455 (GRCm39)	missense	probably damaging	0.98
R3426:Col9a2	UTSW	4	120,907,604 (GRCm39)	missense	possibly damaging	0.93
R3710:Col9a2	UTSW	4	120,911,455 (GRCm39)	missense	probably damaging	0.98
R3821:Col9a2	UTSW	4	120,911,455 (GRCm39)	missense	probably damaging	0.98
R3838:Col9a2	UTSW	4	120,911,455 (GRCm39)	missense	probably damaging	0.98
R3839:Col9a2	UTSW	4	120,911,455 (GRCm39)	missense	probably damaging	0.98
R4067:Col9a2	UTSW	4	120,909,586 (GRCm39)	missense	probably damaging	1.00
R4298:Col9a2	UTSW	4	120,911,455 (GRCm39)	missense	probably damaging	0.98
R4299:Col9a2	UTSW	4	120,911,455 (GRCm39)	missense	probably damaging	0.98
R4595:Col9a2	UTSW	4	120,902,352 (GRCm39)	missense	probably benign	0.04
R4942:Col9a2	UTSW	4	120,910,316 (GRCm39)	missense	possibly damaging	0.73
R5120:Col9a2	UTSW	4	120,896,969 (GRCm39)	missense	unknown
R5434:Col9a2	UTSW	4	120,898,162 (GRCm39)	nonsense	probably null
R6143:Col9a2	UTSW	4	120,911,060 (GRCm39)	missense	probably damaging	0.99
R7027:Col9a2	UTSW	4	120,901,216 (GRCm39)	critical splice donor site	probably null
R7056:Col9a2	UTSW	4	120,906,913 (GRCm39)	critical splice donor site	probably null
R7571:Col9a2	UTSW	4	120,896,981 (GRCm39)	missense	unknown
R9120:Col9a2	UTSW	4	120,900,951 (GRCm39)	splice site	probably benign
R9341:Col9a2	UTSW	4	120,911,483 (GRCm39)	missense	probably benign	0.03
R9343:Col9a2	UTSW	4	120,911,483 (GRCm39)	missense	probably benign	0.03
R9389:Col9a2	UTSW	4	120,911,948 (GRCm39)	missense	probably benign	0.00
R9527:Col9a2	UTSW	4	120,899,528 (GRCm39)	critical splice donor site	probably null
R9620:Col9a2	UTSW	4	120,910,403 (GRCm39)	critical splice donor site	probably null
R9784:Col9a2	UTSW	4	120,898,226 (GRCm39)	missense	unknown
Z1176:Col9a2	UTSW	4	120,910,994 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2019-10-07