Mutagenetix > Incidental Mutations

Incidental Mutation 'R3938:Col11a2'

307310

Institutional Source

Beutler Lab

Gene Symbol

Col11a2

Ensembl Gene

ENSMUSG00000024330

Gene Name

collagen, type XI, alpha 2

Synonyms

MMRRC Submission

040825-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R3938 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

34039437-34066685 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 34039625 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044858] [ENSMUST00000087497] [ENSMUST00000114252] [ENSMUST00000114255] [ENSMUST00000116612] [ENSMUST00000131134] [ENSMUST00000173354]

AlphaFold

Q64739

Predicted Effect

probably benign
Transcript: ENSMUST00000044858

SMART Domains

Protein: ENSMUSP00000036585
Gene: ENSMUSG00000039656

Domain	Start	End	E-Value	Type
low complexity region	66	85	N/A	INTRINSIC
low complexity region	94	121	N/A	INTRINSIC
low complexity region	124	147	N/A	INTRINSIC
low complexity region	179	186	N/A	INTRINSIC
ZnF_C4	189	260	3.98e-39	SMART
low complexity region	269	282	N/A	INTRINSIC
low complexity region	305	316	N/A	INTRINSIC
HOLI	328	491	1.91e-50	SMART

Predicted Effect

probably benign
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 benign
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 benign
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: ENSMUST00000116612

SMART Domains

Protein: ENSMUSP00000112311
Gene: ENSMUSG00000039656

Domain	Start	End	E-Value	Type
Pfam:Nuc_recep-AF1	2	76	4.3e-10	PFAM
ZnF_C4	79	150	3.98e-39	SMART
low complexity region	159	172	N/A	INTRINSIC
low complexity region	195	206	N/A	INTRINSIC
HOLI	218	377	1.35e-50	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 benign
Transcript: ENSMUST00000173354

SMART Domains

Protein: ENSMUSP00000133661
Gene: ENSMUSG00000039656

Domain	Start	End	E-Value	Type
Pfam:Nuc_recep-AF1	2	76	4.3e-10	PFAM
ZnF_C4	79	150	3.98e-39	SMART
low complexity region	159	172	N/A	INTRINSIC
low complexity region	195	206	N/A	INTRINSIC
HOLI	218	381	1.91e-50	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174033

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174130

Predicted Effect

probably benign
Transcript: ENSMUST00000174299

SMART Domains

Protein: ENSMUSP00000133775
Gene: ENSMUSG00000039656

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	25	52	N/A	INTRINSIC
low complexity region	55	78	N/A	INTRINSIC
low complexity region	110	117	N/A	INTRINSIC
ZnF_C4	120	191	3.98e-39	SMART
low complexity region	200	213	N/A	INTRINSIC
low complexity region	236	247	N/A	INTRINSIC
HOLI	259	418	1.35e-50	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174578

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174645

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174740

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (57/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	C	T	7: 28,154,294	P1561L	probably damaging	Het
Adamts1	C	T	16: 85,795,619	V634M	possibly damaging	Het
Arid4b	A	T	13: 14,186,928	N659I	probably benign	Het
BC049715	T	C	6: 136,840,455	I231T	possibly damaging	Het
Bmp4	T	C	14: 46,384,079	Y336C	probably damaging	Het
Ccdc30	G	A	4: 119,352,673	T293I	probably benign	Het
Chd5	A	T	4: 152,377,055	T1275S	probably benign	Het
Chtf8	A	T	8: 106,885,905	M134K	probably benign	Het
Cyp8b1	A	G	9: 121,915,618	V216A	probably benign	Het
Dnah8	C	T	17: 30,854,937	T4527M	probably damaging	Het
Elavl3	A	G	9: 22,018,744	V288A	probably damaging	Het
Erap1	T	A	13: 74,668,028	L92Q	probably damaging	Het
Exoc3l	G	T	8: 105,293,405	P296H	probably damaging	Het
Gm5294	A	T	5: 138,820,968	N78Y	probably damaging	Het
Hacl1	T	C	14: 31,634,191		probably benign	Het
Hrnr	T	A	3: 93,322,855	N133K	probably benign	Het
Itgax	G	T	7: 128,136,273	R504S	possibly damaging	Het
Itgb4	A	G	11: 116,005,926	S1461G	possibly damaging	Het
Klkb1	G	T	8: 45,282,801	T175K	probably damaging	Het
Lrrk2	A	T	15: 91,712,780	D525V	possibly damaging	Het
Lrrk2	C	A	15: 91,778,504	T1912K	probably damaging	Het
Mdga1	G	T	17: 29,857,622	Q59K	probably damaging	Het
Mpp4	A	G	1: 59,124,683	V466A	possibly damaging	Het
Myh6	T	C	14: 54,963,055	D203G	probably benign	Het
Myo5b	T	C	18: 74,716,037	S1116P	probably damaging	Het
Nemp1	T	C	10: 127,695,473	L311P	probably damaging	Het
Nup205	A	G	6: 35,219,742	R1138G	probably damaging	Het
Nup54	A	G	5: 92,417,529	M443T	probably damaging	Het
Peak1	T	C	9: 56,260,365	E93G	probably benign	Het
Pirb	A	T	7: 3,717,638	L287Q	probably benign	Het
Plekhj1	A	G	10: 80,797,775	I76T	probably damaging	Het
Poll	A	G	19: 45,558,418		probably benign	Het
Ppp1r3a	A	T	6: 14,719,074	S614T	probably damaging	Het
Pygm	A	T	19: 6,392,950	I556F	probably benign	Het
Ranbp2	T	C	10: 58,476,472	F1005L	probably benign	Het
Rcor3	G	T	1: 192,101,085	T361K	possibly damaging	Het
Robo4	A	G	9: 37,402,017		probably benign	Het
Rps15	T	C	10: 80,293,839	V96A	probably benign	Het
Rrm2	T	A	12: 24,709,432	N55K	probably damaging	Het
Shank2	T	C	7: 144,128,375	Y382H	probably benign	Het
Slc25a10	G	T	11: 120,491,993	E3*	probably null	Het
Slc7a8	T	A	14: 54,735,841	E223V	probably benign	Het
Snx13	A	G	12: 35,144,097	K880E	probably benign	Het
Spinkl	T	G	18: 44,168,149	M41L	probably benign	Het
Srp54a	A	C	12: 55,089,257	N19T	probably benign	Het
Sun2	T	C	15: 79,734,155	K268E	probably benign	Het
Sytl1	G	A	4: 133,255,624	Q359*	probably null	Het
Tlr6	A	T	5: 64,953,595	F656L	probably damaging	Het
Tmem185a	C	T	X: 70,462,186		probably null	Het
Tmem45a2	C	T	16: 57,039,035	D278N	probably benign	Het
Trav7-1	T	C	14: 52,655,334		probably benign	Het
Trpc2	T	A	7: 102,093,574	M597K	probably damaging	Het
Ttc21a	A	G	9: 119,950,816		probably benign	Het
Usp9y	C	T	Y: 1,313,741	M2188I	probably damaging	Het
Utrn	C	A	10: 12,750,030		probably null	Het
Vmn1r35	T	A	6: 66,679,073	R204S	probably damaging	Het
Zfp955b	T	A	17: 33,305,416	Y59F	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
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
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
R9338:Col11a2	UTSW	17	34047230	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'- CTAGCGAGTGAGGAAGGTTTC -3'
(R):5'- TACTCCAGGCATCAGAGGTC -3'

Sequencing Primer
(F):5'- TCTCTGAGCTGCCAGGGTG -3'
(R):5'- AGAGGTCCCTTCCAAGCAGATG -3'

Posted On

2015-04-17