Mutagenetix > Incidental Mutation

Incidental Mutation 'BB020:Col11a2'

643141

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: 0.936) question?

Stock #

BB020

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34258411-34285659 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 34275029 bp (GRCm39)

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: 99.1%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	A	G	11: 50,833,227 (GRCm39)	V125A	unknown	Het
Adam34	T	A	8: 44,103,911 (GRCm39)	H578L	probably damaging	Het
Ago4	A	T	4: 126,400,811 (GRCm39)	M678K	probably benign	Het
Atosb	A	T	4: 43,035,919 (GRCm39)	C271S	probably benign	Het
Atrn	T	C	2: 130,836,986 (GRCm39)	L1150P	probably damaging	Het
Camta1	C	T	4: 151,168,214 (GRCm39)	E279K	probably damaging	Het
Ccdc88c	T	C	12: 100,911,749 (GRCm39)	D695G	possibly damaging	Het
Cpsf4	T	A	5: 145,104,168 (GRCm39)	M1K	probably null	Het
Dnah12	A	T	14: 26,488,072 (GRCm39)	Q992L	probably benign	Het
Dnajc7	T	C	11: 100,487,038 (GRCm39)	Y145C	probably damaging	Het
Eml5	A	T	12: 98,810,279 (GRCm39)	D892E	possibly damaging	Het
Fam193a	A	G	5: 34,623,539 (GRCm39)	K23E	possibly damaging	Het
Filip1	T	G	9: 79,727,329 (GRCm39)	K430T	possibly damaging	Het
Gm5089	T	C	14: 122,673,403 (GRCm39)	D106G	unknown	Het
Hip1	A	T	5: 135,489,310 (GRCm39)	N45K	probably damaging	Het
Hivep2	T	C	10: 14,003,581 (GRCm39)	S60P	probably damaging	Het
Ighv1-53	A	T	12: 115,122,029 (GRCm39)	C115*	probably null	Het
Macf1	T	C	4: 123,303,444 (GRCm39)	T353A	probably benign	Het
Mast3	A	T	8: 71,239,279 (GRCm39)	V433E	probably damaging	Het
Mast4	A	T	13: 102,909,071 (GRCm39)	M660K	probably damaging	Het
Nr2e1	T	C	10: 42,439,379 (GRCm39)	Y380C	probably damaging	Het
Or5b111	T	A	19: 13,291,569 (GRCm39)	M27L	probably benign	Het
Otog	A	G	7: 45,959,571 (GRCm39)	D720G	probably damaging	Het
Slc6a1	T	A	6: 114,288,859 (GRCm39)	W473R	probably damaging	Het
Smpd3	A	C	8: 106,982,254 (GRCm39)	C617G	probably benign	Het
Spata31d1e	A	G	13: 59,891,565 (GRCm39)	L85P	probably damaging	Het
Sprr3	T	C	3: 92,364,515 (GRCm39)	I110V	possibly damaging	Het
Ston1	A	G	17: 88,943,572 (GRCm39)	E326G	probably benign	Het
Tapbpl	T	G	6: 125,207,233 (GRCm39)	Q152P	probably damaging	Het
Tectb	C	T	19: 55,183,105 (GRCm39)	L319F	possibly damaging	Het
Tpp2	G	A	1: 44,000,121 (GRCm39)	G413D	probably damaging	Het
Tpsg1	A	G	17: 25,592,178 (GRCm39)	H84R	probably damaging	Het
Usp24	A	G	4: 106,285,686 (GRCm39)	N2437S	probably benign	Het
Usp32	T	C	11: 84,897,885 (GRCm39)	Q1152R	probably damaging	Het
Vmn2r6	T	C	3: 64,467,224 (GRCm39)	T92A	probably benign	Het
Xpo7	A	G	14: 70,944,788 (GRCm39)	V35A	probably benign	Het
Zan	T	A	5: 137,461,841 (GRCm39)	T1113S	unknown	Het
Zfp169	A	G	13: 48,643,957 (GRCm39)	V390A	unknown	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
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
R4675:Col11a2	UTSW	17	34,283,267 (GRCm39)	critical splice donor site	probably null
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'- CAGAACCCTGTTTCCTACGAC -3'
(R):5'- TTAGGAAGAGCCCTACCACC -3'

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

Posted On

2020-08-01