Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02422:Mfap2'

292712

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mfap2

Ensembl Gene

ENSMUSG00000060572

Gene Name

microfibrillar-associated protein 2

Synonyms

Magp

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

IGL02422

Quality Score

Status

Chromosome

Chromosomal Location

140737735-140743286 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140741535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 65 (S65P)

Ref Sequence

ENSEMBL: ENSMUSP00000132711 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040222] [ENSMUST00000071977] [ENSMUST00000097816] [ENSMUST00000102491] [ENSMUST00000166376] [ENSMUST00000168157]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040222

SMART Domains

Protein: ENSMUSP00000037679
Gene: ENSMUSG00000040860

Domain	Start	End	E-Value	Type
Pfam:Rootletin	1	173	6.1e-48	PFAM
low complexity region	190	217	N/A	INTRINSIC
internal_repeat_2	298	315	1.08e-6	PROSPERO
low complexity region	329	350	N/A	INTRINSIC
internal_repeat_3	363	393	5.38e-6	PROSPERO
internal_repeat_6	369	392	2.67e-5	PROSPERO
low complexity region	397	411	N/A	INTRINSIC
low complexity region	412	430	N/A	INTRINSIC
low complexity region	453	474	N/A	INTRINSIC
low complexity region	624	643	N/A	INTRINSIC
low complexity region	699	716	N/A	INTRINSIC
low complexity region	845	875	N/A	INTRINSIC
internal_repeat_4	886	904	2.67e-5	PROSPERO
internal_repeat_7	893	906	5.96e-5	PROSPERO
internal_repeat_2	893	910	1.08e-6	PROSPERO
internal_repeat_4	897	914	2.67e-5	PROSPERO
internal_repeat_1	912	937	1.97e-8	PROSPERO
internal_repeat_7	1028	1041	5.96e-5	PROSPERO
low complexity region	1107	1124	N/A	INTRINSIC
internal_repeat_5	1138	1164	2.67e-5	PROSPERO
low complexity region	1190	1201	N/A	INTRINSIC
low complexity region	1253	1269	N/A	INTRINSIC
low complexity region	1270	1289	N/A	INTRINSIC
low complexity region	1297	1309	N/A	INTRINSIC
internal_repeat_6	1533	1556	2.67e-5	PROSPERO
low complexity region	1559	1576	N/A	INTRINSIC
coiled coil region	1580	1707	N/A	INTRINSIC
coiled coil region	1728	1832	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000071977
AA Change: S65P

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000071868
Gene: ENSMUSG00000060572
AA Change: S65P

Domain	Start	End	E-Value	Type
Pfam:MAGP	3	153	1.2e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097816

SMART Domains

Protein: ENSMUSP00000095425
Gene: ENSMUSG00000040860

Domain	Start	End	E-Value	Type
Pfam:Rootletin	1	173	6.1e-48	PFAM
low complexity region	190	217	N/A	INTRINSIC
internal_repeat_2	298	315	1.08e-6	PROSPERO
low complexity region	329	350	N/A	INTRINSIC
internal_repeat_3	363	393	5.38e-6	PROSPERO
internal_repeat_6	369	392	2.67e-5	PROSPERO
low complexity region	397	411	N/A	INTRINSIC
low complexity region	412	430	N/A	INTRINSIC
low complexity region	453	474	N/A	INTRINSIC
low complexity region	624	643	N/A	INTRINSIC
low complexity region	699	716	N/A	INTRINSIC
low complexity region	845	875	N/A	INTRINSIC
internal_repeat_4	886	904	2.67e-5	PROSPERO
internal_repeat_7	893	906	5.96e-5	PROSPERO
internal_repeat_2	893	910	1.08e-6	PROSPERO
internal_repeat_4	897	914	2.67e-5	PROSPERO
internal_repeat_1	912	937	1.97e-8	PROSPERO
internal_repeat_7	1028	1041	5.96e-5	PROSPERO
low complexity region	1107	1124	N/A	INTRINSIC
internal_repeat_5	1138	1164	2.67e-5	PROSPERO
low complexity region	1190	1201	N/A	INTRINSIC
low complexity region	1253	1269	N/A	INTRINSIC
low complexity region	1270	1289	N/A	INTRINSIC
low complexity region	1297	1309	N/A	INTRINSIC
internal_repeat_6	1533	1556	2.67e-5	PROSPERO
low complexity region	1559	1576	N/A	INTRINSIC
coiled coil region	1580	1707	N/A	INTRINSIC
coiled coil region	1728	1832	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102491

SMART Domains

Protein: ENSMUSP00000099549
Gene: ENSMUSG00000040860

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	77	93	N/A	INTRINSIC
Pfam:Rootletin	158	336	9.7e-65	PFAM
low complexity region	354	381	N/A	INTRINSIC
internal_repeat_2	462	479	1.77e-6	PROSPERO
low complexity region	493	514	N/A	INTRINSIC
internal_repeat_3	527	557	8.63e-6	PROSPERO
internal_repeat_6	533	556	4.21e-5	PROSPERO
low complexity region	561	575	N/A	INTRINSIC
low complexity region	576	594	N/A	INTRINSIC
low complexity region	617	638	N/A	INTRINSIC
low complexity region	788	807	N/A	INTRINSIC
low complexity region	863	880	N/A	INTRINSIC
low complexity region	1009	1039	N/A	INTRINSIC
internal_repeat_4	1050	1068	4.21e-5	PROSPERO
internal_repeat_7	1057	1070	9.31e-5	PROSPERO
internal_repeat_2	1057	1074	1.77e-6	PROSPERO
internal_repeat_4	1061	1078	4.21e-5	PROSPERO
internal_repeat_1	1076	1101	3.36e-8	PROSPERO
internal_repeat_7	1192	1205	9.31e-5	PROSPERO
low complexity region	1271	1288	N/A	INTRINSIC
internal_repeat_5	1302	1328	4.21e-5	PROSPERO
low complexity region	1354	1365	N/A	INTRINSIC
low complexity region	1417	1433	N/A	INTRINSIC
low complexity region	1434	1453	N/A	INTRINSIC
low complexity region	1461	1473	N/A	INTRINSIC
internal_repeat_6	1697	1720	4.21e-5	PROSPERO
low complexity region	1723	1740	N/A	INTRINSIC
coiled coil region	1744	1871	N/A	INTRINSIC
coiled coil region	1892	1996	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126973

Predicted Effect

probably benign
Transcript: ENSMUST00000166376
AA Change: S65P

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000132711
Gene: ENSMUSG00000060572
AA Change: S65P

Domain	Start	End	E-Value	Type
Pfam:MAGP	2	153	2e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151455

Predicted Effect

probably benign
Transcript: ENSMUST00000168157

SMART Domains

Protein: ENSMUSP00000126543
Gene: ENSMUSG00000040860

Domain	Start	End	E-Value	Type
Pfam:Rootletin	1	173	6.1e-48	PFAM
low complexity region	190	217	N/A	INTRINSIC
internal_repeat_2	298	315	1.08e-6	PROSPERO
low complexity region	329	350	N/A	INTRINSIC
internal_repeat_3	363	393	5.38e-6	PROSPERO
internal_repeat_6	369	392	2.67e-5	PROSPERO
low complexity region	397	411	N/A	INTRINSIC
low complexity region	412	430	N/A	INTRINSIC
low complexity region	453	474	N/A	INTRINSIC
low complexity region	624	643	N/A	INTRINSIC
low complexity region	699	716	N/A	INTRINSIC
low complexity region	845	875	N/A	INTRINSIC
internal_repeat_4	886	904	2.67e-5	PROSPERO
internal_repeat_7	893	906	5.96e-5	PROSPERO
internal_repeat_2	893	910	1.08e-6	PROSPERO
internal_repeat_4	897	914	2.67e-5	PROSPERO
internal_repeat_1	912	937	1.97e-8	PROSPERO
internal_repeat_7	1028	1041	5.96e-5	PROSPERO
low complexity region	1107	1124	N/A	INTRINSIC
internal_repeat_5	1138	1164	2.67e-5	PROSPERO
low complexity region	1190	1201	N/A	INTRINSIC
low complexity region	1253	1269	N/A	INTRINSIC
low complexity region	1270	1289	N/A	INTRINSIC
low complexity region	1297	1309	N/A	INTRINSIC
internal_repeat_6	1533	1556	2.67e-5	PROSPERO
low complexity region	1559	1576	N/A	INTRINSIC
coiled coil region	1580	1707	N/A	INTRINSIC
coiled coil region	1728	1832	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Microfibrillar-associated protein 2 is a major antigen of elastin-associated microfibrils and a candidate for involvement in the etiology of inherited connective tissue diseases. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
PHENOTYPE: Homozygotes for a knock-out allele show thrombocytopenia, delayed thrombotic occlusion following vessel injury, and prolonged bleeding from a tail vein incision. Homozygotes for a different knock-out allele exhibit marrow adipose tissue expansion, insulin resistance, and altered basal hematopoiesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019M22Rik	T	C	12: 96,013,821 (GRCm39)		noncoding transcript	Het
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Aak1	A	T	6: 86,959,598 (GRCm39)	T846S	unknown	Het
Adgrl1	A	G	8: 84,664,115 (GRCm39)	D1149G	probably damaging	Het
AI661453	C	T	17: 47,778,017 (GRCm39)		probably benign	Het
Ap4b1	T	C	3: 103,720,170 (GRCm39)	V139A	possibly damaging	Het
Arhgef16	G	A	4: 154,371,522 (GRCm39)	R224*	probably null	Het
Ash1l	T	A	3: 88,976,386 (GRCm39)		probably null	Het
Atm	A	T	9: 53,412,092 (GRCm39)	V988D	probably damaging	Het
C3	T	C	17: 57,533,823 (GRCm39)	E47G	probably damaging	Het
Cdkn2aip	G	A	8: 48,164,534 (GRCm39)	S393L	probably damaging	Het
Cep20	T	G	16: 14,118,070 (GRCm39)	D150A	probably benign	Het
Cyp2c68	A	C	19: 39,722,896 (GRCm39)	N217K	probably damaging	Het
Dapp1	A	T	3: 137,667,260 (GRCm39)	S101T	probably benign	Het
Ddx25	T	C	9: 35,462,660 (GRCm39)	I242V	probably null	Het
Dpy19l4	T	C	4: 11,265,803 (GRCm39)	N715S	possibly damaging	Het
Dync1h1	A	G	12: 110,606,644 (GRCm39)	E2511G	possibly damaging	Het
Gm9839	T	A	1: 32,558,943 (GRCm39)		probably benign	Het
Grn	A	G	11: 102,327,084 (GRCm39)		probably benign	Het
Haus5	T	C	7: 30,359,571 (GRCm39)	T196A	possibly damaging	Het
Ik	A	G	18: 36,886,313 (GRCm39)		probably null	Het
Inpp5d	T	G	1: 87,635,854 (GRCm39)	F473C	probably damaging	Het
Kif19a	C	A	11: 114,680,187 (GRCm39)	S841R	probably damaging	Het
Lipn	G	A	19: 34,046,063 (GRCm39)	C12Y	probably benign	Het
Ltbp4	G	T	7: 27,019,097 (GRCm39)	P1074Q	probably damaging	Het
Mtbp	T	C	15: 55,426,439 (GRCm39)	F127S	possibly damaging	Het
Or8k37	A	G	2: 86,469,560 (GRCm39)	F164S	probably damaging	Het
Pappa2	T	C	1: 158,764,503 (GRCm39)	D336G	probably damaging	Het
Plekhh2	A	G	17: 84,871,237 (GRCm39)		probably benign	Het
Plekhm3	A	T	1: 64,961,025 (GRCm39)	C410*	probably null	Het
Ppm1f	T	A	16: 16,735,580 (GRCm39)	H265Q	probably damaging	Het
Pramel16	T	A	4: 143,676,453 (GRCm39)	Y217F	probably benign	Het
Rasal3	T	C	17: 32,617,947 (GRCm39)	T207A	probably benign	Het
Rnf17	T	A	14: 56,719,592 (GRCm39)	N947K	probably damaging	Het
Rpl3l	C	A	17: 24,952,962 (GRCm39)	Y307*	probably null	Het
Sema4d	A	G	13: 51,857,124 (GRCm39)	S703P	probably benign	Het
Slc12a7	T	C	13: 73,954,280 (GRCm39)	M857T	probably benign	Het
Slc34a3	T	C	2: 25,122,275 (GRCm39)	D110G	probably benign	Het
Spata32	A	T	11: 103,099,706 (GRCm39)	N266K	probably benign	Het
Spata9	A	G	13: 76,141,193 (GRCm39)	I147V	probably benign	Het
Supt16	T	C	14: 52,417,000 (GRCm39)	Y326C	possibly damaging	Het
Tpx2	T	C	2: 152,715,064 (GRCm39)	I95T	probably benign	Het
Usp17ld	T	A	7: 102,899,967 (GRCm39)	M322L	probably damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het

Other mutations in Mfap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01318:Mfap2	APN	4	140,742,856 (GRCm39)	missense	possibly damaging	0.82
R0149:Mfap2	UTSW	4	140,742,294 (GRCm39)	missense	probably damaging	1.00
R0361:Mfap2	UTSW	4	140,742,294 (GRCm39)	missense	probably damaging	1.00
R0545:Mfap2	UTSW	4	140,741,496 (GRCm39)	unclassified	probably benign
R3981:Mfap2	UTSW	4	140,741,554 (GRCm39)	missense	possibly damaging	0.80
R3983:Mfap2	UTSW	4	140,741,554 (GRCm39)	missense	possibly damaging	0.80
R4993:Mfap2	UTSW	4	140,742,889 (GRCm39)	makesense	probably null
R5019:Mfap2	UTSW	4	140,742,569 (GRCm39)	missense	probably damaging	1.00
R8026:Mfap2	UTSW	4	140,741,114 (GRCm39)	missense	possibly damaging	0.46

Posted On

2015-04-16