Mutagenetix > Incidental Mutation

Incidental Mutation 'R4675:Col11a2'

386464

Institutional Source

Beutler Lab

Gene Symbol

Col11a2

Ensembl Gene

ENSMUSG00000024330

Gene Name

collagen, type XI, alpha 2

Synonyms

MMRRC Submission

041930-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R4675 (G1)

Quality Score

130

Status

Validated

Chromosome

Chromosomal Location

34258411-34285659 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 34283267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087497] [ENSMUST00000114252] [ENSMUST00000114255] [ENSMUST00000143354]

AlphaFold

Q64739

Predicted Effect

probably null
Transcript: ENSMUST00000087497

SMART Domains

Protein: ENSMUSP00000084772
Gene: ENSMUSG00000024330

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
TSPN	31	214	4.25e-72	SMART
LamG	82	213	1.08e-9	SMART
Pfam:Collagen	306	364	2.2e-9	PFAM
Pfam:Collagen	399	460	1e-10	PFAM
Pfam:Collagen	437	520	1.2e-7	PFAM
Pfam:Collagen	479	553	5.7e-9	PFAM
Pfam:Collagen	506	579	1.6e-8	PFAM
internal_repeat_4	584	614	3.98e-5	PROSPERO
internal_repeat_2	584	669	5.49e-20	PROSPERO
internal_repeat_1	587	740	2.58e-22	PROSPERO
Pfam:Collagen	743	814	1.5e-8	PFAM
Pfam:Collagen	767	839	4.8e-7	PFAM
low complexity region	854	872	N/A	INTRINSIC
Pfam:Collagen	881	946	4.5e-8	PFAM
Pfam:Collagen	905	976	2e-7	PFAM
Pfam:Collagen	933	1002	2.7e-8	PFAM
low complexity region	1013	1047	N/A	INTRINSIC
low complexity region	1064	1112	N/A	INTRINSIC
low complexity region	1121	1199	N/A	INTRINSIC
low complexity region	1216	1232	N/A	INTRINSIC
low complexity region	1289	1320	N/A	INTRINSIC
Pfam:Collagen	1358	1417	1.7e-8	PFAM
COLFI	1454	1649	4.42e-117	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000114252

SMART Domains

Protein: ENSMUSP00000109890
Gene: ENSMUSG00000024330

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
TSPN	31	214	4.25e-72	SMART
LamG	82	213	1.08e-9	SMART
Pfam:Collagen	311	369	2.3e-9	PFAM
Pfam:Collagen	404	465	1.1e-10	PFAM
Pfam:Collagen	442	525	1.3e-7	PFAM
Pfam:Collagen	484	558	6.4e-9	PFAM
Pfam:Collagen	511	584	1.7e-8	PFAM
internal_repeat_4	589	619	3.69e-5	PROSPERO
internal_repeat_2	589	674	4.46e-20	PROSPERO
internal_repeat_1	592	745	2.05e-22	PROSPERO
internal_repeat_3	636	752	7.84e-10	PROSPERO
Pfam:Collagen	772	844	5.5e-7	PFAM
Pfam:Collagen	800	869	1.9e-8	PFAM
Pfam:Collagen	886	951	5e-8	PFAM
Pfam:Collagen	910	981	2.2e-7	PFAM
Pfam:Collagen	934	1007	6.9e-7	PFAM
low complexity region	1018	1052	N/A	INTRINSIC
low complexity region	1069	1117	N/A	INTRINSIC
low complexity region	1126	1204	N/A	INTRINSIC
low complexity region	1221	1237	N/A	INTRINSIC
low complexity region	1294	1325	N/A	INTRINSIC
Pfam:Collagen	1363	1422	1.9e-8	PFAM
COLFI	1459	1654	4.42e-117	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000114255

SMART Domains

Protein: ENSMUSP00000109893
Gene: ENSMUSG00000024330

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
TSPN	31	214	4.25e-72	SMART
LamG	82	213	1.08e-9	SMART
low complexity region	257	268	N/A	INTRINSIC
low complexity region	295	307	N/A	INTRINSIC
Pfam:Collagen	345	403	2.1e-9	PFAM
Pfam:Collagen	438	499	1.1e-10	PFAM
Pfam:Collagen	521	593	2.2e-8	PFAM
Pfam:Collagen	545	613	9.1e-10	PFAM
internal_repeat_4	623	653	2.83e-5	PROSPERO
internal_repeat_2	623	708	2.11e-20	PROSPERO
internal_repeat_1	626	779	9e-23	PROSPERO
internal_repeat_3	670	786	5.16e-10	PROSPERO
low complexity region	788	819	N/A	INTRINSIC
low complexity region	830	857	N/A	INTRINSIC
low complexity region	866	887	N/A	INTRINSIC
low complexity region	893	911	N/A	INTRINSIC
low complexity region	919	935	N/A	INTRINSIC
Pfam:Collagen	973	1041	2.9e-8	PFAM
low complexity region	1052	1086	N/A	INTRINSIC
low complexity region	1103	1151	N/A	INTRINSIC
low complexity region	1160	1238	N/A	INTRINSIC
low complexity region	1255	1271	N/A	INTRINSIC
low complexity region	1328	1359	N/A	INTRINSIC
Pfam:Collagen	1394	1456	1.5e-8	PFAM
COLFI	1493	1688	4.42e-117	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143354

SMART Domains

Protein: ENSMUSP00000115026
Gene: ENSMUSG00000024330

Domain	Start	End	E-Value	Type
Pfam:Collagen	3	56	4.7e-9	PFAM
Pfam:Collagen	91	152	1.7e-9	PFAM
internal_repeat_1	158	301	3.7e-11	PROSPERO
internal_repeat_2	276	321	1.18e-9	PROSPERO
internal_repeat_4	291	306	1.06e-5	PROSPERO
internal_repeat_3	303	353	1.87e-6	PROSPERO
internal_repeat_2	315	360	1.18e-9	PROSPERO
internal_repeat_1	323	439	3.7e-11	PROSPERO
low complexity region	441	472	N/A	INTRINSIC
low complexity region	483	510	N/A	INTRINSIC
low complexity region	519	540	N/A	INTRINSIC
low complexity region	546	564	N/A	INTRINSIC
low complexity region	572	588	N/A	INTRINSIC
Pfam:Collagen	603	673	6.6e-6	PFAM
Pfam:Collagen	627	694	5.4e-7	PFAM
Pfam:Collagen	660	734	3.2e-7	PFAM
Pfam:Collagen	711	770	1.1e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144927

Meta Mutation Damage Score

0.9484

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

95% (89/94)

MGI Phenotype

FUNCTION: This gene encodes the alpha-2 subunit of type XI collagen, one of the low abundance fibrillar collagens found in cartilage. The encoded protein, in association with other collagen subunits, forms a heterotrimeric type XI procollagen that may undergo proteolytic processing similar to the alpha-1 subunit. Mice lacking the encoded protein exhibit a mild phenotype similar to nonocular Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED) as well as a nonsyndromic form of deafness called DFNA13. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous mutant animals exhibit reduced body size, short snout, a slightly bulged forehead, deafness, and disorganization of chondrocytes in the growth plate of long bones. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	A	17: 36,203,820 (GRCm39)	K291N	probably damaging	Het
Adgra1	A	G	7: 139,456,102 (GRCm39)	T577A	probably damaging	Het
Akip1	T	A	7: 109,308,188 (GRCm39)	I152N	possibly damaging	Het
Armc9	A	G	1: 86,130,240 (GRCm39)	Y8C	probably damaging	Het
Atp1a4	A	T	1: 172,085,223 (GRCm39)	V66E	possibly damaging	Het
Atp2a3	A	T	11: 72,872,623 (GRCm39)	T724S	probably damaging	Het
Bmp1	C	A	14: 70,730,284 (GRCm39)	R416L	probably damaging	Het
Bmt2	G	T	6: 13,663,300 (GRCm39)	A66E	probably benign	Het
Bscl2	A	T	19: 8,825,523 (GRCm39)	D403V	possibly damaging	Het
Cbx2	T	A	11: 118,919,935 (GRCm39)	I500N	probably damaging	Het
Cd84	A	T	1: 171,700,887 (GRCm39)	H216L	possibly damaging	Het
Cdhr18	A	T	14: 13,856,724 (GRCm38)	D462E	probably benign	Het
Ceacam15	T	C	7: 16,407,410 (GRCm39)	T36A	probably benign	Het
Cebpd	A	G	16: 15,705,385 (GRCm39)	D66G	probably damaging	Het
Cntnap4	A	G	8: 113,512,468 (GRCm39)	Y610C	probably damaging	Het
Col17a1	T	C	19: 47,651,497 (GRCm39)		probably null	Het
Cracr2b	A	G	7: 141,043,451 (GRCm39)	D43G	probably damaging	Het
Dgkz	T	A	2: 91,768,691 (GRCm39)	K697*	probably null	Het
Dnah7b	T	A	1: 46,256,317 (GRCm39)	D1873E	possibly damaging	Het
Dst	G	A	1: 34,314,784 (GRCm39)	E6472K	possibly damaging	Het
Duox2	T	C	2: 122,111,414 (GRCm39)	D1428G	probably damaging	Het
Elmod2	T	C	8: 84,043,537 (GRCm39)	N210S	probably damaging	Het
Ephx1	A	G	1: 180,822,256 (GRCm39)	F220S	probably damaging	Het
F13b	A	G	1: 139,429,542 (GRCm39)	Y20C	unknown	Het
Fbn2	T	A	18: 58,173,265 (GRCm39)	N2051I	possibly damaging	Het
Gabrg2	G	A	11: 41,859,650 (GRCm39)	H201Y	probably damaging	Het
Gbgt1	T	C	2: 28,388,453 (GRCm39)	F46S	possibly damaging	Het
Gjd4	A	G	18: 9,280,578 (GRCm39)	S167P	probably damaging	Het
Heatr5a	T	C	12: 51,924,130 (GRCm39)	N2028D	probably benign	Het
Heca	T	C	10: 17,791,057 (GRCm39)	H333R	probably benign	Het
Herc1	T	C	9: 66,298,740 (GRCm39)	S625P	probably damaging	Het
Ighv1-55	T	C	12: 115,172,175 (GRCm39)		probably benign	Het
Ighv5-8	G	A	12: 113,618,777 (GRCm39)	S64N	probably benign	Het
Itga1	G	T	13: 115,138,227 (GRCm39)		probably null	Het
Kif21a	C	A	15: 90,824,748 (GRCm39)	R1342L	possibly damaging	Het
Ksr1	G	A	11: 78,965,186 (GRCm39)	P118S	possibly damaging	Het
Lat2	T	C	5: 134,634,911 (GRCm39)	N100S	probably damaging	Het
Lrit3	T	A	3: 129,582,121 (GRCm39)	D501V	probably damaging	Het
Lrrfip1	T	A	1: 91,031,042 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,809,968 (GRCm39)	R546H	probably damaging	Het
Med21	T	A	6: 146,551,691 (GRCm39)	L114H	probably damaging	Het
Mfap4	A	T	11: 61,376,336 (GRCm39)		probably benign	Het
Mpdz	G	A	4: 81,302,049 (GRCm39)	R233W	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Ncapd3	T	C	9: 27,006,038 (GRCm39)		probably benign	Het
Neto2	T	G	8: 86,396,333 (GRCm39)	H104P	probably damaging	Het
Nr1h2	T	C	7: 44,201,979 (GRCm39)	T36A	possibly damaging	Het
Nudt16l2	T	C	9: 105,021,647 (GRCm39)	D133G	probably benign	Het
Or13a20	A	T	7: 140,232,074 (GRCm39)	M61L	probably damaging	Het
Or4a79	T	C	2: 89,551,838 (GRCm39)	I206V	probably benign	Het
Or51ab3	T	G	7: 103,201,183 (GRCm39)	L64V	probably damaging	Het
Or51g2	A	G	7: 102,623,013 (GRCm39)	M62T	probably damaging	Het
Or52p1	T	A	7: 104,267,631 (GRCm39)	C248*	probably null	Het
Or5p52	A	G	7: 107,502,567 (GRCm39)	I214M	probably damaging	Het
Or5p72	T	C	7: 108,022,309 (GRCm39)	V177A	possibly damaging	Het
Or8b4	T	C	9: 37,830,882 (GRCm39)	*310R	probably null	Het
Pcbp3	A	G	10: 76,606,869 (GRCm39)	L241S	possibly damaging	Het
Pcf11	G	A	7: 92,308,985 (GRCm39)		probably benign	Het
Podxl	G	A	6: 31,503,579 (GRCm39)	T254M	possibly damaging	Het
Prr27	A	C	5: 87,991,100 (GRCm39)	E237D	possibly damaging	Het
Rdh16	G	T	10: 127,637,316 (GRCm39)	V84F	probably damaging	Het
Rnf26	A	T	9: 44,023,428 (GRCm39)	D273E	probably benign	Het
Rpl13a	A	T	7: 44,776,242 (GRCm39)		probably benign	Het
Rpl3l	A	G	17: 24,952,584 (GRCm39)	K239E	probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Rsf1	A	AGGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Ryk	A	G	9: 102,768,415 (GRCm39)	D352G	possibly damaging	Het
Setd1b	T	A	5: 123,299,061 (GRCm39)		probably benign	Het
Sh2b1	G	A	7: 126,070,618 (GRCm39)	A361V	possibly damaging	Het
Slc35f3	A	T	8: 127,047,935 (GRCm39)	K92*	probably null	Het
Slc39a10	A	G	1: 46,857,144 (GRCm39)		probably benign	Het
Slc47a1	G	A	11: 61,253,857 (GRCm39)	T194I	probably benign	Het
Slc6a3	C	A	13: 73,692,936 (GRCm39)	N185K	probably damaging	Het
Stag1	T	C	9: 100,730,758 (GRCm39)	V391A	probably damaging	Het
Syne2	A	C	12: 75,996,075 (GRCm39)	N2206T	probably damaging	Het
Tbc1d23	C	A	16: 57,003,325 (GRCm39)	R481I	possibly damaging	Het
Tcstv7b	T	C	13: 120,702,362 (GRCm39)	W53R	probably damaging	Het
Tfam	A	G	10: 71,069,225 (GRCm39)	S166P	probably benign	Het
Tmem63a	A	G	1: 180,784,056 (GRCm39)	H212R	probably benign	Het
Txndc11	T	A	16: 10,902,745 (GRCm39)	Q634L	possibly damaging	Het
Usp31	T	C	7: 121,306,548 (GRCm39)		probably benign	Het
Vmn1r204	A	T	13: 22,740,962 (GRCm39)	M198L	probably damaging	Het
Vmn2r17	A	T	5: 109,575,049 (GRCm39)	T119S	probably benign	Het
Vsig1	A	G	X: 139,833,861 (GRCm39)	D227G	probably damaging	Het
Zfhx2	G	A	14: 55,304,678 (GRCm39)	P1102L	probably benign	Het
Zfp715	T	C	7: 42,949,444 (GRCm39)	Q172R	probably benign	Het
Zfp872	A	G	9: 22,108,701 (GRCm39)	D53G	probably damaging	Het
Zswim8	G	A	14: 20,764,681 (GRCm39)	D684N	probably benign	Het

Other mutations in Col11a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01723:Col11a2	APN	17	34,280,254 (GRCm39)	unclassified	probably benign
IGL01839:Col11a2	APN	17	34,283,056 (GRCm39)	unclassified	probably benign
IGL02429:Col11a2	APN	17	34,261,266 (GRCm39)	missense	probably damaging	1.00
IGL02491:Col11a2	APN	17	34,283,181 (GRCm39)	unclassified	probably benign
BB010:Col11a2	UTSW	17	34,275,029 (GRCm39)	nonsense	probably null
BB020:Col11a2	UTSW	17	34,275,029 (GRCm39)	nonsense	probably null
PIT4531001:Col11a2	UTSW	17	34,265,412 (GRCm39)	critical splice acceptor site	probably null
R0001:Col11a2	UTSW	17	34,280,586 (GRCm39)	missense	probably benign	0.00
R0005:Col11a2	UTSW	17	34,281,853 (GRCm39)	unclassified	probably benign
R0099:Col11a2	UTSW	17	34,268,648 (GRCm39)	missense	probably damaging	0.99
R0106:Col11a2	UTSW	17	34,276,249 (GRCm39)	missense	probably damaging	0.99
R0243:Col11a2	UTSW	17	34,281,520 (GRCm39)	unclassified	probably benign
R0254:Col11a2	UTSW	17	34,283,777 (GRCm39)	unclassified	probably benign
R0352:Col11a2	UTSW	17	34,261,501 (GRCm39)	missense	probably benign	0.43
R0362:Col11a2	UTSW	17	34,281,420 (GRCm39)	splice site	probably null
R0491:Col11a2	UTSW	17	34,261,186 (GRCm39)	missense	probably null	0.00
R0531:Col11a2	UTSW	17	34,277,351 (GRCm39)	splice site	probably benign
R0538:Col11a2	UTSW	17	34,270,302 (GRCm39)	splice site	probably benign
R0646:Col11a2	UTSW	17	34,278,322 (GRCm39)	critical splice donor site	probably null
R0676:Col11a2	UTSW	17	34,276,249 (GRCm39)	missense	probably damaging	0.99
R0919:Col11a2	UTSW	17	34,278,124 (GRCm39)	missense	possibly damaging	0.93
R1522:Col11a2	UTSW	17	34,274,228 (GRCm39)	missense	probably damaging	1.00
R1767:Col11a2	UTSW	17	34,282,869 (GRCm39)	unclassified	probably benign
R1872:Col11a2	UTSW	17	34,281,529 (GRCm39)	unclassified	probably benign
R1941:Col11a2	UTSW	17	34,263,925 (GRCm39)	missense	probably benign	0.01
R1945:Col11a2	UTSW	17	34,278,142 (GRCm39)	missense	probably damaging	1.00
R2101:Col11a2	UTSW	17	34,271,143 (GRCm39)	missense	probably damaging	1.00
R2161:Col11a2	UTSW	17	34,283,771 (GRCm39)	unclassified	probably benign
R2258:Col11a2	UTSW	17	34,258,651 (GRCm39)	missense	probably benign
R2259:Col11a2	UTSW	17	34,258,651 (GRCm39)	missense	probably benign
R2260:Col11a2	UTSW	17	34,258,651 (GRCm39)	missense	probably benign
R2761:Col11a2	UTSW	17	34,270,000 (GRCm39)	missense	probably damaging	1.00
R3114:Col11a2	UTSW	17	34,265,442 (GRCm39)	missense	possibly damaging	0.69
R3824:Col11a2	UTSW	17	34,273,154 (GRCm39)	missense	probably damaging	1.00
R3938:Col11a2	UTSW	17	34,258,599 (GRCm39)	unclassified	probably benign
R4039:Col11a2	UTSW	17	34,264,748 (GRCm39)	missense	probably benign	0.00
R4810:Col11a2	UTSW	17	34,276,086 (GRCm39)	missense	probably damaging	0.99
R4824:Col11a2	UTSW	17	34,269,937 (GRCm39)	missense	probably damaging	1.00
R4944:Col11a2	UTSW	17	34,261,164 (GRCm39)	missense	possibly damaging	0.47
R5112:Col11a2	UTSW	17	34,283,062 (GRCm39)	unclassified	probably benign
R5355:Col11a2	UTSW	17	34,270,775 (GRCm39)	missense	probably benign	0.07
R5384:Col11a2	UTSW	17	34,278,148 (GRCm39)	critical splice donor site	probably null
R5534:Col11a2	UTSW	17	34,269,998 (GRCm39)	missense	probably damaging	0.99
R5860:Col11a2	UTSW	17	34,283,159 (GRCm39)	unclassified	probably benign
R6252:Col11a2	UTSW	17	34,261,186 (GRCm39)	missense	probably null	0.00
R6327:Col11a2	UTSW	17	34,262,291 (GRCm39)	missense	probably benign	0.32
R6828:Col11a2	UTSW	17	34,272,607 (GRCm39)	splice site	probably null
R6860:Col11a2	UTSW	17	34,272,572 (GRCm39)	missense	probably damaging	1.00
R6873:Col11a2	UTSW	17	34,283,993 (GRCm39)	missense	unknown
R6992:Col11a2	UTSW	17	34,266,118 (GRCm39)	missense	probably benign	0.01
R7292:Col11a2	UTSW	17	34,270,482 (GRCm39)	missense	unknown
R7543:Col11a2	UTSW	17	34,269,430 (GRCm39)	missense	unknown
R7933:Col11a2	UTSW	17	34,275,029 (GRCm39)	nonsense	probably null
R8157:Col11a2	UTSW	17	34,280,230 (GRCm39)	missense	unknown
R8161:Col11a2	UTSW	17	34,270,264 (GRCm39)	missense	unknown
R8209:Col11a2	UTSW	17	34,266,253 (GRCm39)	critical splice donor site	probably null
R8493:Col11a2	UTSW	17	34,278,936 (GRCm39)	missense	possibly damaging	0.82
R8705:Col11a2	UTSW	17	34,268,769 (GRCm39)	missense	unknown
R8901:Col11a2	UTSW	17	34,262,254 (GRCm39)	missense	probably damaging	1.00
R8946:Col11a2	UTSW	17	34,270,757 (GRCm39)	missense	probably benign	0.40
R9010:Col11a2	UTSW	17	34,283,760 (GRCm39)	missense	unknown
R9108:Col11a2	UTSW	17	34,276,634 (GRCm39)	missense	probably benign	0.21
R9138:Col11a2	UTSW	17	34,279,847 (GRCm39)	missense
R9147:Col11a2	UTSW	17	34,273,119 (GRCm39)	splice site	probably benign
R9148:Col11a2	UTSW	17	34,273,119 (GRCm39)	splice site	probably benign
R9338:Col11a2	UTSW	17	34,266,204 (GRCm39)	missense	unknown
R9485:Col11a2	UTSW	17	34,258,669 (GRCm39)	missense	unknown
X0017:Col11a2	UTSW	17	34,278,959 (GRCm39)	critical splice donor site	probably null
X0064:Col11a2	UTSW	17	34,261,221 (GRCm39)	missense	possibly damaging	0.88
Z1176:Col11a2	UTSW	17	34,275,376 (GRCm39)	missense	unknown
Z1177:Col11a2	UTSW	17	34,270,640 (GRCm39)	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- TCACTGGGACCTCACTGTAC -3'
(R):5'- ATTCAGGTGCACGTGTACAC -3'

Sequencing Primer
(F):5'- AGAGGTGATCCAGCCACTG -3'
(R):5'- ACGTACGTATATGTGTCTGCTC -3'

Posted On

2016-06-03