Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02003:Morc2b'

182179

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Morc2b

Ensembl Gene

ENSMUSG00000048602

Gene Name

microrchidia 2B

Synonyms

4932411A10Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

IGL02003

Quality Score

Status

Chromosome

Chromosomal Location

33354562-33369473 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33357298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 158 (V158D)

Ref Sequence

ENSEMBL: ENSMUSP00000123354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053896] [ENSMUST00000131954]

AlphaFold

Q8C5W4

Predicted Effect

probably benign
Transcript: ENSMUST00000053896
AA Change: V158D

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000056879
Gene: ENSMUSG00000048602
AA Change: V158D

Domain	Start	End	E-Value	Type
HATPase_c	24	134	5.78e0	SMART
coiled coil region	285	321	N/A	INTRINSIC
Pfam:zf-CW	495	541	1.9e-16	PFAM
coiled coil region	555	584	N/A	INTRINSIC
low complexity region	680	695	N/A	INTRINSIC
coiled coil region	961	1001	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131954
AA Change: V158D

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000123354
Gene: ENSMUSG00000048602
AA Change: V158D

Domain	Start	End	E-Value	Type
HATPase_c	24	134	5.78e0	SMART
coiled coil region	285	321	N/A	INTRINSIC
Pfam:zf-CW	494	543	7.7e-18	PFAM
coiled coil region	555	584	N/A	INTRINSIC
low complexity region	680	695	N/A	INTRINSIC
coiled coil region	961	1001	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display male and female infertility with failure of chromosomal synapsis, double strand break repair, and recombination in meiosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449E01Rik	A	G	14: 105,736,392 (GRCm39)		noncoding transcript	Het
Adam1b	G	A	5: 121,639,354 (GRCm39)	L564F	probably damaging	Het
Alms1	C	T	6: 85,599,205 (GRCm39)	P1344S	possibly damaging	Het
Cnnm2	G	T	19: 46,856,998 (GRCm39)	G699W	probably damaging	Het
Crybg2	A	G	4: 133,799,767 (GRCm39)	K309R	probably benign	Het
Csnk2a1	C	T	2: 152,118,890 (GRCm39)	R333*	probably null	Het
Eif3m	C	T	2: 104,843,188 (GRCm39)		probably benign	Het
Fgfr2	T	C	7: 129,820,802 (GRCm39)	D244G	probably damaging	Het
H2-Q10	A	G	17: 35,781,338 (GRCm39)	I47V	probably benign	Het
Hmcn2	C	T	2: 31,318,994 (GRCm39)	T3898I	possibly damaging	Het
Isyna1	G	A	8: 71,049,407 (GRCm39)	V440M	possibly damaging	Het
Itpr3	A	G	17: 27,340,449 (GRCm39)	K2654E	probably damaging	Het
Lrrd1	C	T	5: 3,899,857 (GRCm39)	T54I	probably damaging	Het
Lrrk2	G	A	15: 91,615,694 (GRCm39)	V843M	probably damaging	Het
Mroh7	T	C	4: 106,559,726 (GRCm39)	T734A	probably damaging	Het
Mylk3	T	C	8: 86,085,727 (GRCm39)	D136G	probably benign	Het
Nos1	T	C	5: 118,043,530 (GRCm39)	S602P	probably damaging	Het
Nsmaf	T	C	4: 6,418,522 (GRCm39)	I428V	probably benign	Het
Nup93	T	G	8: 95,028,737 (GRCm39)	Y323*	probably null	Het
Or5ac21	G	A	16: 59,123,996 (GRCm39)	G161D	probably damaging	Het
Or7g21	A	T	9: 19,032,361 (GRCm39)	M34L	probably benign	Het
Or8b50	C	T	9: 38,518,136 (GRCm39)	A125V	probably damaging	Het
Ppm1m	C	A	9: 106,076,356 (GRCm39)	G13W	probably damaging	Het
Prok1	T	G	3: 107,142,979 (GRCm39)	H75P	probably damaging	Het
Ptprb	A	T	10: 116,203,410 (GRCm39)	I1774F	probably damaging	Het
Rasl10b	A	T	11: 83,308,679 (GRCm39)	E73V	probably damaging	Het
Rhbdl3	A	G	11: 80,228,342 (GRCm39)	T271A	possibly damaging	Het
Serpina3a	A	G	12: 104,082,259 (GRCm39)	M11V	probably benign	Het
Setdb2	T	C	14: 59,650,939 (GRCm39)	E464G	probably damaging	Het
Slc8a1	A	G	17: 81,735,625 (GRCm39)	I749T	possibly damaging	Het
Slco6d1	T	A	1: 98,408,493 (GRCm39)	I463N	probably damaging	Het
Sncb	A	T	13: 54,910,743 (GRCm39)	V51E	probably damaging	Het
Stk32c	A	G	7: 138,768,069 (GRCm39)	S71P	possibly damaging	Het
Tet1	A	G	10: 62,652,179 (GRCm39)	V1613A	possibly damaging	Het
Vmn2r91	T	A	17: 18,327,921 (GRCm39)	I505K	probably benign	Het
Zfp110	A	T	7: 12,583,832 (GRCm39)	K827*	probably null	Het
Zfp438	A	T	18: 5,214,503 (GRCm39)	C152S	probably benign	Het

Other mutations in Morc2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:Morc2b	APN	17	33,356,293 (GRCm39)	missense	possibly damaging	0.47
IGL01369:Morc2b	APN	17	33,357,139 (GRCm39)	missense	probably benign	0.12
IGL01533:Morc2b	APN	17	33,354,695 (GRCm39)	utr 3 prime	probably benign
IGL02028:Morc2b	APN	17	33,356,387 (GRCm39)	missense	possibly damaging	0.78
IGL02152:Morc2b	APN	17	33,356,917 (GRCm39)	missense	probably damaging	1.00
IGL02341:Morc2b	APN	17	33,356,281 (GRCm39)	missense	probably damaging	1.00
IGL02976:Morc2b	APN	17	33,356,497 (GRCm39)	missense	possibly damaging	0.90
IGL03293:Morc2b	APN	17	33,357,337 (GRCm39)	missense	probably damaging	1.00
twinkle	UTSW	17	33,354,906 (GRCm39)	nonsense	probably null
PIT4283001:Morc2b	UTSW	17	33,355,042 (GRCm39)	missense	probably benign	0.00
R0056:Morc2b	UTSW	17	33,357,733 (GRCm39)	missense	possibly damaging	0.78
R0116:Morc2b	UTSW	17	33,356,015 (GRCm39)	missense	probably damaging	1.00
R0179:Morc2b	UTSW	17	33,355,956 (GRCm39)	nonsense	probably null
R0533:Morc2b	UTSW	17	33,354,906 (GRCm39)	nonsense	probably null
R0556:Morc2b	UTSW	17	33,356,812 (GRCm39)	missense	probably benign	0.05
R0629:Morc2b	UTSW	17	33,354,781 (GRCm39)	missense	probably benign	0.00
R0635:Morc2b	UTSW	17	33,356,661 (GRCm39)	missense	possibly damaging	0.90
R0840:Morc2b	UTSW	17	33,355,086 (GRCm39)	missense	probably benign	0.01
R1205:Morc2b	UTSW	17	33,354,908 (GRCm39)	missense	probably damaging	1.00
R1566:Morc2b	UTSW	17	33,355,948 (GRCm39)	missense	probably benign	0.02
R1676:Morc2b	UTSW	17	33,354,955 (GRCm39)	missense	possibly damaging	0.82
R1892:Morc2b	UTSW	17	33,354,748 (GRCm39)	missense	probably damaging	1.00
R1954:Morc2b	UTSW	17	33,356,464 (GRCm39)	missense	probably damaging	1.00
R1955:Morc2b	UTSW	17	33,356,464 (GRCm39)	missense	probably damaging	1.00
R1969:Morc2b	UTSW	17	33,356,065 (GRCm39)	missense	probably benign	0.00
R2069:Morc2b	UTSW	17	33,355,734 (GRCm39)	missense	probably benign	0.13
R3609:Morc2b	UTSW	17	33,355,252 (GRCm39)	missense	probably damaging	1.00
R3610:Morc2b	UTSW	17	33,355,252 (GRCm39)	missense	probably damaging	1.00
R3831:Morc2b	UTSW	17	33,356,233 (GRCm39)	missense	probably benign	0.01
R4156:Morc2b	UTSW	17	33,357,401 (GRCm39)	missense	probably benign	0.43
R4243:Morc2b	UTSW	17	33,355,375 (GRCm39)	missense	probably benign	0.03
R4877:Morc2b	UTSW	17	33,357,712 (GRCm39)	missense	probably benign	0.26
R4911:Morc2b	UTSW	17	33,356,351 (GRCm39)	missense	probably damaging	1.00
R5230:Morc2b	UTSW	17	33,355,226 (GRCm39)	missense	probably benign	0.00
R5264:Morc2b	UTSW	17	33,357,353 (GRCm39)	missense	probably benign	0.03
R5326:Morc2b	UTSW	17	33,355,907 (GRCm39)	missense	probably benign	0.01
R5455:Morc2b	UTSW	17	33,357,584 (GRCm39)	missense	probably benign	0.29
R5933:Morc2b	UTSW	17	33,357,583 (GRCm39)	missense	possibly damaging	0.84
R5973:Morc2b	UTSW	17	33,356,446 (GRCm39)	missense	probably damaging	0.97
R6026:Morc2b	UTSW	17	33,356,957 (GRCm39)	missense	possibly damaging	0.55
R6113:Morc2b	UTSW	17	33,357,042 (GRCm39)	nonsense	probably null
R6393:Morc2b	UTSW	17	33,356,750 (GRCm39)	missense	probably damaging	0.97
R7066:Morc2b	UTSW	17	33,355,610 (GRCm39)	missense	probably benign	0.00
R7117:Morc2b	UTSW	17	33,356,926 (GRCm39)	missense	probably benign	0.00
R7120:Morc2b	UTSW	17	33,354,787 (GRCm39)	missense	probably damaging	1.00
R7130:Morc2b	UTSW	17	33,355,262 (GRCm39)	missense	possibly damaging	0.68
R7498:Morc2b	UTSW	17	33,356,833 (GRCm39)	missense	possibly damaging	0.55
R7516:Morc2b	UTSW	17	33,356,435 (GRCm39)	missense	probably benign	0.03
R7664:Morc2b	UTSW	17	33,355,376 (GRCm39)	missense	probably benign	0.12
R7754:Morc2b	UTSW	17	33,356,218 (GRCm39)	missense	probably benign	0.33
R7756:Morc2b	UTSW	17	33,355,981 (GRCm39)	missense	probably damaging	1.00
R7758:Morc2b	UTSW	17	33,355,981 (GRCm39)	missense	probably damaging	1.00
R7766:Morc2b	UTSW	17	33,357,397 (GRCm39)	missense	probably benign	0.19
R7957:Morc2b	UTSW	17	33,354,747 (GRCm39)	missense	probably benign	0.39
R7965:Morc2b	UTSW	17	33,354,746 (GRCm39)	missense	possibly damaging	0.91
R8164:Morc2b	UTSW	17	33,357,014 (GRCm39)	missense	probably damaging	0.99
R8283:Morc2b	UTSW	17	33,355,675 (GRCm39)	missense	probably benign	0.00
R8338:Morc2b	UTSW	17	33,355,387 (GRCm39)	missense	probably benign
R8349:Morc2b	UTSW	17	33,355,775 (GRCm39)	missense	probably benign	0.13
R8352:Morc2b	UTSW	17	33,356,476 (GRCm39)	missense	probably damaging	1.00
R8362:Morc2b	UTSW	17	33,357,295 (GRCm39)	missense	possibly damaging	0.91
R8364:Morc2b	UTSW	17	33,357,214 (GRCm39)	missense	probably benign	0.01
R8449:Morc2b	UTSW	17	33,355,775 (GRCm39)	missense	probably benign	0.13
R8452:Morc2b	UTSW	17	33,356,476 (GRCm39)	missense	probably damaging	1.00
R8476:Morc2b	UTSW	17	33,354,833 (GRCm39)	missense	possibly damaging	0.87
R8844:Morc2b	UTSW	17	33,354,742 (GRCm39)	missense	probably damaging	1.00
R9277:Morc2b	UTSW	17	33,354,997 (GRCm39)	missense	probably benign	0.10
R9571:Morc2b	UTSW	17	33,355,178 (GRCm39)	missense	probably benign	0.00
Z1088:Morc2b	UTSW	17	33,355,060 (GRCm39)	missense	possibly damaging	0.49
Z1177:Morc2b	UTSW	17	33,356,376 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07