Mutagenetix > Incidental Mutation

Incidental Mutation 'BB010:Col11a2'

642602

Institutional Source

Beutler Lab

Gene Symbol

Col11a2

Ensembl Gene

ENSMUSG00000024330

Gene Name

collagen, type XI, alpha 2

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.919) question?

Stock #

BB010

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34039437-34066685 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 34056055 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 400 (K400*)

Ref Sequence

ENSEMBL: ENSMUSP00000115026 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087497] [ENSMUST00000114252] [ENSMUST00000114255] [ENSMUST00000131134] [ENSMUST00000143354]

AlphaFold

Q64739

Predicted Effect

probably null
Transcript: ENSMUST00000087497
AA Change: K708*

SMART Domains

Protein: ENSMUSP00000084772
Gene: ENSMUSG00000024330
AA Change: K708*

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
AA Change: K713*

SMART Domains

Protein: ENSMUSP00000109890
Gene: ENSMUSG00000024330
AA Change: K713*

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
AA Change: K747*

SMART Domains

Protein: ENSMUSP00000109893
Gene: ENSMUSG00000024330
AA Change: K747*

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: ENSMUST00000131134

SMART Domains

Protein: ENSMUSP00000122082
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	303	314	N/A	INTRINSIC
low complexity region	342	354	N/A	INTRINSIC
Pfam:Collagen	392	450	7.8e-10	PFAM
Pfam:Collagen	484	543	1.4e-10	PFAM
Pfam:Collagen	514	581	9.5e-11	PFAM
Pfam:Collagen	565	624	2.1e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000143354
AA Change: K400*

SMART Domains

Protein: ENSMUSP00000115026
Gene: ENSMUSG00000024330
AA Change: K400*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	G	13: 59,743,751	L85P	probably damaging	Het
4933414I15Rik	A	G	11: 50,942,400	V125A	unknown	Het
Adam34	T	A	8: 43,650,874	H578L	probably damaging	Het
Ago4	A	T	4: 126,507,018	M678K	probably benign	Het
Atrn	T	C	2: 130,995,066	L1150P	probably damaging	Het
Camta1	C	T	4: 151,083,757	E279K	probably damaging	Het
Ccdc88c	T	C	12: 100,945,490	D695G	possibly damaging	Het
Cpsf4	T	A	5: 145,167,358	M1K	probably null	Het
Dnah12	A	T	14: 26,766,115	Q992L	probably benign	Het
Dnajc7	T	C	11: 100,596,212	Y145C	probably damaging	Het
Eml5	A	T	12: 98,844,020	D892E	possibly damaging	Het
Fam193a	A	G	5: 34,466,195	K23E	possibly damaging	Het
Fam214b	A	T	4: 43,035,919	C271S	probably benign	Het
Filip1	T	G	9: 79,820,047	K430T	possibly damaging	Het
Gm5089	T	C	14: 122,435,991	D106G	unknown	Het
Hip1	A	T	5: 135,460,456	N45K	probably damaging	Het
Hivep2	T	C	10: 14,127,837	S60P	probably damaging	Het
Ighv1-53	A	T	12: 115,158,409	C115*	probably null	Het
Macf1	T	C	4: 123,409,651	T353A	probably benign	Het
Mast3	A	T	8: 70,786,635	V433E	probably damaging	Het
Mast4	A	T	13: 102,772,563	M660K	probably damaging	Het
Nr2e1	T	C	10: 42,563,383	Y380C	probably damaging	Het
Olfr1465	T	A	19: 13,314,205	M27L	probably benign	Het
Olfr980	T	C	9: 40,007,135		probably benign	Het
Otog	A	G	7: 46,310,147	D720G	probably damaging	Het
Slc6a1	T	A	6: 114,311,898	W473R	probably damaging	Het
Smpd3	A	C	8: 106,255,622	C617G	probably benign	Het
Sprr3	T	C	3: 92,457,208	I110V	possibly damaging	Het
Ston1	A	G	17: 88,636,144	E326G	probably benign	Het
Tapbpl	T	G	6: 125,230,270	Q152P	probably damaging	Het
Tectb	C	T	19: 55,194,673	L319F	possibly damaging	Het
Tpp2	G	A	1: 43,960,961	G413D	probably damaging	Het
Tpsg1	A	G	17: 25,373,204	H84R	probably damaging	Het
Usp24	A	G	4: 106,428,489	N2437S	probably benign	Het
Usp32	T	C	11: 85,007,059	Q1152R	probably damaging	Het
Vmn2r6	T	C	3: 64,559,803	T92A	probably benign	Het
Xpo7	A	G	14: 70,707,348	V35A	probably benign	Het
Zan	T	A	5: 137,463,579	T1113S	unknown	Het
Zfp169	A	G	13: 48,490,481	V390A	unknown	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
BB020:Col11a2	UTSW	17	34056055	nonsense	probably null
PIT4531001:Col11a2	UTSW	17	34046438	critical splice acceptor site	probably null
R0001:Col11a2	UTSW	17	34061612	missense	probably benign	0.00
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	unknown
R8901:Col11a2	UTSW	17	34043280	missense	probably damaging	1.00
R8946:Col11a2	UTSW	17	34051783	missense	probably benign	0.40
R9010:Col11a2	UTSW	17	34064786	missense	unknown
R9108:Col11a2	UTSW	17	34057660	missense	probably benign	0.21
R9138:Col11a2	UTSW	17	34060873	missense
R9147:Col11a2	UTSW	17	34054145	splice site	probably benign
R9148:Col11a2	UTSW	17	34054145	splice site	probably benign
R9338:Col11a2	UTSW	17	34047230	missense	unknown
R9485:Col11a2	UTSW	17	34039695	missense	unknown
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'- TGTTTCCTACGACAGCGCTG -3'
(R):5'- TTAGGAAGAGCCCTACCACC -3'

Sequencing Primer
(F):5'- TACGACAGCGCTGCATCCTC -3'
(R):5'- ACCACCCACAGGCCTCTATTTC -3'

Posted On

2020-08-01