Mutagenetix > Incidental Mutation

Incidental Mutation 'R3610:Morc2b'

269214

Institutional Source

Beutler Lab

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 #

R3610 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33354562-33369473 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33355252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 840 (V840A)

Ref Sequence

ENSEMBL: ENSMUSP00000123354 (fasta)

Gene Model

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

AlphaFold

Q8C5W4

Predicted Effect

probably damaging
Transcript: ENSMUST00000053896
AA Change: V840A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056879
Gene: ENSMUSG00000048602
AA Change: V840A

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 damaging
Transcript: ENSMUST00000131954
AA Change: V840A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123354
Gene: ENSMUSG00000048602
AA Change: V840A

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

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf2	C	A	11: 94,452,172 (GRCm39)	V457L	probably benign	Het
Cacna1a	C	A	8: 85,285,694 (GRCm39)	R733S	probably damaging	Het
Cc2d2a	A	T	5: 43,869,668 (GRCm39)	E856D	probably damaging	Het
Cpeb2	T	C	5: 43,443,276 (GRCm39)	F989S	probably damaging	Het
Dcaf10	G	T	4: 45,372,962 (GRCm39)	E409*	probably null	Het
Ddx3y	T	C	Y: 1,263,928 (GRCm39)	N545S	probably null	Het
Eef2k	A	G	7: 120,488,458 (GRCm39)	S448G	probably benign	Het
Irf2bpl	T	C	12: 86,928,631 (GRCm39)	I681V	probably benign	Het
Kremen1	CGGG	CGGGGGG	11: 5,151,791 (GRCm39)		probably benign	Het
Pgap6	G	A	17: 26,337,860 (GRCm39)	V415I	probably benign	Het
Rcl1	A	G	19: 29,095,630 (GRCm39)	T72A	probably benign	Het
Robo1	T	C	16: 72,780,658 (GRCm39)	F796S	probably benign	Het
Rsf1	A	AAGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Tars1	T	C	15: 11,392,990 (GRCm39)	Y152C	probably damaging	Het
Tmem184a	A	G	5: 139,793,710 (GRCm39)		probably null	Het
Tsc2	A	C	17: 24,841,524 (GRCm39)	I365S	possibly damaging	Het
Usp17la	G	A	7: 104,510,279 (GRCm39)	V295I	probably damaging	Het
Vim	A	T	2: 13,583,437 (GRCm39)	H253L	possibly damaging	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
IGL02003:Morc2b	APN	17	33,357,298 (GRCm39)	missense	probably benign	0.07
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
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

Predicted Primers

PCR Primer
(F):5'- AGGCAGTTCCAGAGAATTTGG -3'
(R):5'- CAGTTGACCTCAAGACAGCTC -3'

Sequencing Primer
(F):5'- CAGTTCCAGAGAATTTGGACCAAG -3'
(R):5'- GTTGACCTCAAGACAGCTCAGAAAG -3'

Posted On

2015-02-19