Mutagenetix > Incidental Mutations

Incidental Mutation 'R0001:Col11a2'

32272

Institutional Source

Beutler Lab

Gene Symbol

Col11a2

Ensembl Gene

ENSMUSG00000024330

Gene Name

collagen, type XI, alpha 2

Synonyms

MMRRC Submission

038297-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.921) question?

Stock #

R0001 (G1)

Quality Score

157

Status

Validated

Chromosome

Chromosomal Location

34039437-34066685 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34061612 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1218 (S1218P)

Ref Sequence

ENSEMBL: ENSMUSP00000084772 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000087497
AA Change: S1218P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000084772
Gene: ENSMUSG00000024330
AA Change: S1218P

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

unknown
Transcript: ENSMUST00000114252
AA Change: S1223P

SMART Domains

Protein: ENSMUSP00000109890
Gene: ENSMUSG00000024330
AA Change: S1223P

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

unknown
Transcript: ENSMUST00000114255
AA Change: S1257P

SMART Domains

Protein: ENSMUSP00000109893
Gene: ENSMUSG00000024330
AA Change: S1257P

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

0.0691

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

99% (76/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	G	A	19: 58,789,171	A61V	probably damaging	Het
2900092C05Rik	T	A	7: 12,554,607		probably benign	Het
A4galt	A	G	15: 83,228,289	F98L	probably benign	Het
Abca4	T	G	3: 122,081,011		probably benign	Het
Acacb	C	T	5: 114,204,833		probably benign	Het
Agbl1	A	T	7: 76,419,863	H367L	probably damaging	Het
Apoa4	C	A	9: 46,242,892	Q264K	probably benign	Het
Camsap2	A	T	1: 136,282,888		probably benign	Het
Cdan1	C	A	2: 120,723,751	R939L	probably benign	Het
Ceacam18	G	A	7: 43,636,876	V58I	possibly damaging	Het
Ciita	A	T	16: 10,514,433		probably benign	Het
Clk4	T	A	11: 51,268,765		probably benign	Het
Cntnap2	T	C	6: 46,530,171	D215G	probably benign	Het
Col20a1	T	C	2: 180,984,412		probably benign	Het
Ctsb	A	G	14: 63,135,622	E76G	probably benign	Het
Ctu2	T	C	8: 122,478,920	C161R	probably benign	Het
Dhx29	T	C	13: 112,964,556	L1211P	probably damaging	Het
Dhx9	G	T	1: 153,462,636	T759K	probably damaging	Het
Dmxl1	T	C	18: 49,888,897		probably benign	Het
Dpysl3	C	T	18: 43,358,375	E226K	possibly damaging	Het
Eif2d	A	T	1: 131,168,127	K453*	probably null	Het
Epha7	T	C	4: 28,961,279		probably benign	Het
Fam160b1	T	A	19: 57,381,756	H477Q	probably benign	Het
Fat3	T	C	9: 16,377,873	D118G	probably damaging	Het
Foxn4	T	A	5: 114,260,870	Q159L	probably damaging	Het
Frs2	G	T	10: 117,074,876	H194N	possibly damaging	Het
Fut8	A	T	12: 77,475,315	*576L	probably null	Het
Galns	T	C	8: 122,595,883		probably benign	Het
Gamt	G	A	10: 80,259,061		probably benign	Het
Gpn1	T	A	5: 31,495,617		probably benign	Het
Ipcef1	G	T	10: 6,900,600	H330Q	probably damaging	Het
Itga4	A	C	2: 79,326,587	Y1024S	probably damaging	Het
Jak2	A	G	19: 29,282,387	I229V	probably benign	Het
Katnal1	A	G	5: 148,921,275	S42P	probably damaging	Het
Kcnu1	A	T	8: 25,859,270	D142V	probably damaging	Het
Lig3	C	T	11: 82,790,591	R470W	probably damaging	Het
Mgat4c	A	G	10: 102,388,956	S344G	probably benign	Het
Miox	C	T	15: 89,336,274	L189F	possibly damaging	Het
Mipol1	C	T	12: 57,460,839		probably benign	Het
Mki67	C	T	7: 135,699,172	V1378M	probably damaging	Het
Mki67	T	A	7: 135,701,019	D762V	probably damaging	Het
Mmp9	A	G	2: 164,948,383	T43A	probably benign	Het
Muc6	T	C	7: 141,641,574	T1316A	possibly damaging	Het
Naip5	A	G	13: 100,214,650		probably null	Het
Naip5	C	A	13: 100,223,114	S538I	probably benign	Het
Nek3	A	T	8: 22,158,612		probably benign	Het
Nlrp1b	A	G	11: 71,161,759	S948P	probably damaging	Het
Nyap2	A	T	1: 81,192,107	H193L	probably benign	Het
Olfr1413	A	G	1: 92,573,461	K97E	possibly damaging	Het
Olfr648	T	A	7: 104,179,473	K312*	probably null	Het
Patl2	G	A	2: 122,125,710		probably benign	Het
Pcdhb11	A	T	18: 37,423,989	R791W	probably benign	Het
Pkd1l3	C	A	8: 109,628,633		probably benign	Het
Pkn2	A	T	3: 142,828,988	V73D	probably benign	Het
Pknox1	A	T	17: 31,599,636	H281L	probably damaging	Het
Polr3a	A	G	14: 24,452,189		probably benign	Het
Prss38	A	G	11: 59,373,180		probably benign	Het
Rad54l2	A	G	9: 106,708,217	F783S	probably damaging	Het
Rbm5	T	C	9: 107,742,424	R125G	probably damaging	Het
Rnpep	A	G	1: 135,272,485		probably benign	Het
Slc1a5	T	A	7: 16,793,637		probably null	Het
Slc22a4	G	A	11: 54,028,003		probably benign	Het
Spink12	T	C	18: 44,107,696	C50R	probably damaging	Het
Svep1	G	A	4: 58,066,460	T3208I	possibly damaging	Het
Tgm5	G	T	2: 121,077,646	D16E	probably damaging	Het
Tpp2	A	G	1: 43,971,726	N558D	probably benign	Het
Trappc9	A	T	15: 72,963,662	L507Q	probably damaging	Het
Trpm3	A	T	19: 22,715,331	Q262L	possibly damaging	Het
Ttn	A	G	2: 76,776,972		probably benign	Het
Ttn	G	A	2: 76,832,089		probably benign	Het
Ubr4	T	A	4: 139,451,788	L3316Q	probably damaging	Het
Uckl1	T	A	2: 181,574,655	Y136F	probably damaging	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Vps39	A	G	2: 120,318,053	V870A	probably benign	Het
Zdhhc25	A	G	15: 88,600,909	D149G	probably benign	Het
Zfp648	C	T	1: 154,205,286	T397M	probably damaging	Het
Zic2	C	A	14: 122,478,957	T435K	probably damaging	Het

Other mutations in Col11a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01723:Col11a2	APN	17	34061280	unclassified	probably benign
IGL01839:Col11a2	APN	17	34064082	unclassified	probably benign
IGL02429:Col11a2	APN	17	34042292	missense	probably damaging	1.00
IGL02491:Col11a2	APN	17	34064207	unclassified	probably benign
BB010:Col11a2	UTSW	17	34056055	nonsense	probably null
BB020:Col11a2	UTSW	17	34056055	nonsense	probably null
PIT4531001:Col11a2	UTSW	17	34046438	critical splice acceptor site	probably null
R0005:Col11a2	UTSW	17	34062879	unclassified	probably benign
R0099:Col11a2	UTSW	17	34049674	missense	probably damaging	0.99
R0106:Col11a2	UTSW	17	34057275	missense	probably damaging	0.99
R0243:Col11a2	UTSW	17	34062546	unclassified	probably benign
R0254:Col11a2	UTSW	17	34064803	unclassified	probably benign
R0352:Col11a2	UTSW	17	34042527	missense	probably benign	0.43
R0362:Col11a2	UTSW	17	34062446	splice site	probably null
R0491:Col11a2	UTSW	17	34042212	missense	probably null	0.00
R0531:Col11a2	UTSW	17	34058377	splice site	probably benign
R0538:Col11a2	UTSW	17	34051328	splice site	probably benign
R0646:Col11a2	UTSW	17	34059348	critical splice donor site	probably null
R0676:Col11a2	UTSW	17	34057275	missense	probably damaging	0.99
R0919:Col11a2	UTSW	17	34059150	missense	possibly damaging	0.93
R1522:Col11a2	UTSW	17	34055254	missense	probably damaging	1.00
R1767:Col11a2	UTSW	17	34063895	unclassified	probably benign
R1872:Col11a2	UTSW	17	34062555	unclassified	probably benign
R1941:Col11a2	UTSW	17	34044951	missense	probably benign	0.01
R1945:Col11a2	UTSW	17	34059168	missense	probably damaging	1.00
R2101:Col11a2	UTSW	17	34052169	missense	probably damaging	1.00
R2161:Col11a2	UTSW	17	34064797	unclassified	probably benign
R2258:Col11a2	UTSW	17	34039677	missense	probably benign
R2259:Col11a2	UTSW	17	34039677	missense	probably benign
R2260:Col11a2	UTSW	17	34039677	missense	probably benign
R2761:Col11a2	UTSW	17	34051026	missense	probably damaging	1.00
R3114:Col11a2	UTSW	17	34046468	missense	possibly damaging	0.69
R3824:Col11a2	UTSW	17	34054180	missense	probably damaging	1.00
R3938:Col11a2	UTSW	17	34039625	unclassified	probably benign
R4039:Col11a2	UTSW	17	34045774	missense	probably benign	0.00
R4675:Col11a2	UTSW	17	34064293	critical splice donor site	probably null
R4810:Col11a2	UTSW	17	34057112	missense	probably damaging	0.99
R4824:Col11a2	UTSW	17	34050963	missense	probably damaging	1.00
R4944:Col11a2	UTSW	17	34042190	missense	possibly damaging	0.47
R5112:Col11a2	UTSW	17	34064088	unclassified	probably benign
R5355:Col11a2	UTSW	17	34051801	missense	probably benign	0.07
R5384:Col11a2	UTSW	17	34059174	critical splice donor site	probably null
R5534:Col11a2	UTSW	17	34051024	missense	probably damaging	0.99
R5860:Col11a2	UTSW	17	34064185	unclassified	probably benign
R6252:Col11a2	UTSW	17	34042212	missense	probably null	0.00
R6327:Col11a2	UTSW	17	34043317	missense	probably benign	0.32
R6828:Col11a2	UTSW	17	34053633	splice site	probably null
R6860:Col11a2	UTSW	17	34053598	missense	probably damaging	1.00
R6873:Col11a2	UTSW	17	34065019	missense	unknown
R6992:Col11a2	UTSW	17	34047144	missense	probably benign	0.01
R7292:Col11a2	UTSW	17	34051508	missense	unknown
R7543:Col11a2	UTSW	17	34050456	missense	unknown
R7933:Col11a2	UTSW	17	34056055	nonsense	probably null
R8157:Col11a2	UTSW	17	34061256	missense	unknown
R8161:Col11a2	UTSW	17	34051290	missense	unknown
R8209:Col11a2	UTSW	17	34047279	critical splice donor site	probably null
R8493:Col11a2	UTSW	17	34059962	missense	possibly damaging	0.82
R8705:Col11a2	UTSW	17	34049795	missense	not run
X0017:Col11a2	UTSW	17	34059985	critical splice donor site	probably null
X0064:Col11a2	UTSW	17	34042247	missense	possibly damaging	0.88
Z1176:Col11a2	UTSW	17	34056402	missense	unknown
Z1177:Col11a2	UTSW	17	34051666	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- TTTCACCCCTTCAGGGCCAGGATG -3'
(R):5'- TGGTAGCCAGCCCGACTCAACTCAG -3'

Sequencing Primer
(F):5'- GGCCAGGATGGTGCTAAG -3'
(R):5'- gcacacacacaaacggg -3'

Posted On

2013-05-09