Mutagenetix > Incidental Mutation

Incidental Mutation 'R2259:Col11a2'

243685

Institutional Source

Beutler Lab

Gene Symbol

Col11a2

Ensembl Gene

ENSMUSG00000024330

Gene Name

collagen, type XI, alpha 2

Synonyms

MMRRC Submission

040259-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.937) question?

Stock #

R2259 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34039437-34066685 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34039677 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 8 (H8R)

Ref Sequence

ENSEMBL: ENSMUSP00000122082 (fasta)

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

unknown
Transcript: ENSMUST00000087497
AA Change: H8R

SMART Domains

Protein: ENSMUSP00000084772
Gene: ENSMUSG00000024330
AA Change: H8R

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: H8R

SMART Domains

Protein: ENSMUSP00000109890
Gene: ENSMUSG00000024330
AA Change: H8R

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: H8R

SMART Domains

Protein: ENSMUSP00000109893
Gene: ENSMUSG00000024330
AA Change: H8R

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
AA Change: H8R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122082
Gene: ENSMUSG00000024330
AA Change: H8R

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	G	5: 129,112,311	S91A	possibly damaging	Het
Ankrd13b	T	G	11: 77,476,342	N247T	probably damaging	Het
Atp10b	A	G	11: 43,172,745	D169G	probably damaging	Het
Atp10b	G	A	11: 43,189,613	V239M	probably damaging	Het
Cflar	C	T	1: 58,729,121	T121I	probably benign	Het
Clca3b	T	C	3: 144,846,381	N180D	possibly damaging	Het
Cnbd2	T	A	2: 156,335,272	I62N	probably damaging	Het
Cyp2a4	C	T	7: 26,309,035	L201F	probably damaging	Het
D630003M21Rik	A	T	2: 158,204,711	L782Q	probably damaging	Het
Dctn1	C	A	6: 83,197,586	H1065N	possibly damaging	Het
Dgcr2	A	T	16: 17,844,977		probably null	Het
Dlg4	T	C	11: 70,031,370	I143T	probably damaging	Het
E2f7	T	G	10: 110,746,343	N4K	probably damaging	Het
Eef2kmt	C	T	16: 5,245,308	V323I	probably benign	Het
Eif2ak4	A	C	2: 118,455,783	I1017L	probably damaging	Het
Eln	C	A	5: 134,729,654	A126S	unknown	Het
Exoc7	T	C	11: 116,306,411	S35G	probably damaging	Het
Fam187a	A	G	11: 102,885,298		probably benign	Het
Fam196a	T	A	7: 134,917,667	E378V	probably damaging	Het
Fkbp6	C	T	5: 135,337,614		probably null	Het
Flnc	G	A	6: 29,438,666	W186*	probably null	Het
Fmn2	T	A	1: 174,502,932	L296H	unknown	Het
Galnt14	C	A	17: 73,494,266	M520I	probably benign	Het
Gba2	A	G	4: 43,570,107	C396R	probably benign	Het
Gigyf1	C	A	5: 137,520,332	A215E	possibly damaging	Het
Glb1	C	T	9: 114,443,032	Q246*	probably null	Het
Gm11565	T	G	11: 99,915,018	C79G	possibly damaging	Het
Gpr160	A	G	3: 30,896,295	Y172C	probably damaging	Het
Ift52	A	G	2: 163,028,093	N159S	probably benign	Het
Insrr	A	G	3: 87,800,452	D67G	probably damaging	Het
Irf2	A	G	8: 46,837,833	Y230C	probably benign	Het
Jmjd6	T	C	11: 116,841,314	H187R	probably damaging	Het
Kdm2b	C	T	5: 122,882,416	G90S	probably damaging	Het
Kif7	C	T	7: 79,711,589	G118D	probably damaging	Het
Klhl38	G	C	15: 58,314,978	T532S	possibly damaging	Het
Kmt2a	G	T	9: 44,881,142		probably benign	Het
Lama2	A	G	10: 27,031,127	L2346S	probably benign	Het
Marveld2	A	G	13: 100,612,470	S34P	probably benign	Het
Mettl7a1	A	T	15: 100,313,168	I174F	probably benign	Het
Mllt6	T	C	11: 97,664,976	V44A	probably damaging	Het
Muc5ac	A	G	7: 141,791,008	N72S	probably benign	Het
Myo7a	T	G	7: 98,069,499	D1388A	probably damaging	Het
Ncapd3	A	G	9: 27,056,072	D568G	probably benign	Het
Ncoa1	A	C	12: 4,315,819	H82Q	probably damaging	Het
Npbwr1	C	A	1: 5,916,658	L212F	probably damaging	Het
Nptx1	T	G	11: 119,543,316	I315L	probably benign	Het
Npy2r	G	T	3: 82,541,354	P38Q	possibly damaging	Het
Ocln	A	T	13: 100,535,029	D24E	probably damaging	Het
Olfr1350	A	T	7: 6,570,023	I11F	probably damaging	Het
Olfr295	T	A	7: 86,585,884	V203D	possibly damaging	Het
Olfr933	T	C	9: 38,976,000	V108A	probably benign	Het
Pde2a	A	T	7: 101,484,567	D85V	probably damaging	Het
Phf3	A	G	1: 30,804,343	V1845A	probably benign	Het
Plch1	T	A	3: 63,697,977	Q1493L	possibly damaging	Het
Pold1	T	C	7: 44,541,484		probably benign	Het
Polq	T	C	16: 37,062,097	V1541A	probably benign	Het
Psmd3	T	A	11: 98,690,964	M305K	probably benign	Het
Pura	T	C	18: 36,287,750	F197L	possibly damaging	Het
Rab3gap2	T	A	1: 185,221,859	W43R	probably damaging	Het
Repin1	A	G	6: 48,596,530	Q128R	probably benign	Het
Rnf208	G	A	2: 25,243,644	V117I	probably damaging	Het
Rpe65	A	G	3: 159,615,571	Y340C	probably damaging	Het
Ryr1	C	A	7: 29,019,741	V4414L	unknown	Het
Sephs2	T	C	7: 127,273,477	E148G	possibly damaging	Het
Spns2	T	A	11: 72,457,268	Q291L	probably benign	Het
Ssc5d	C	T	7: 4,943,916	P1090S	probably benign	Het
Tasp1	A	T	2: 139,951,506	V250D	probably damaging	Het
Tcaf3	A	G	6: 42,591,430	I664T	possibly damaging	Het
Tg	T	C	15: 66,683,898	V813A	probably benign	Het
Tmem132c	T	C	5: 127,504,924	L401P	probably benign	Het
Tmem138	T	C	19: 10,571,603	N101S	probably benign	Het
Tmem242	G	T	17: 5,433,470	A99E	probably damaging	Het
Tmem30a	C	T	9: 79,774,164	R277H	probably benign	Het
Tnni3	T	A	7: 4,519,406	I182F	probably benign	Het
Trim30a	T	A	7: 104,411,504	D355V	probably damaging	Het
Trim35	C	T	14: 66,309,262	R493*	probably null	Het
Trip10	G	C	17: 57,255,135	V254L	probably benign	Het
Tshz2	A	T	2: 169,886,406	Q505L	probably benign	Het
Ttyh1	T	C	7: 4,128,184	V218A	probably damaging	Het
Unc13b	A	T	4: 43,182,780	E3163V	possibly damaging	Het
Unc45b	T	A	11: 82,917,799	M237K	probably benign	Het
Usp8	A	G	2: 126,758,568	T1080A	probably benign	Het
Vmn2r65	T	A	7: 84,940,911	H599L	possibly damaging	Het
Vps13c	A	G	9: 67,953,860	N2891S	probably benign	Het
Xpo5	C	T	17: 46,240,896	Q1050*	probably null	Het
Zfp407	G	T	18: 84,209,793	T1897K	probably damaging	Het
Zzef1	C	T	11: 72,900,633	R2188*	probably null	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
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'- CACTGACAAGAAGAGGTGCC -3'
(R):5'- CCTATAGTGGCTCCAAGGAAC -3'

Sequencing Primer
(F):5'- AGAAGAGGTGCCCCCAC -3'
(R):5'- GGAACCAAAAGTGTCATGCCCTTC -3'

Posted On

2014-10-16