Mutagenetix > Incidental Mutation

Incidental Mutation 'R1969:Morc2b'

219561

Institutional Source

Beutler Lab

Gene Symbol

Morc2b

Ensembl Gene

ENSMUSG00000048602

Gene Name

microrchidia 2B

Synonyms

4932411A10Rik

MMRRC Submission

039982-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.262) question?

Stock #

R1969 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33354562-33369473 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 33356065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 569 (Q569P)

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: Q569P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000056879
Gene: ENSMUSG00000048602
AA Change: Q569P

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: Q569P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000123354
Gene: ENSMUSG00000048602
AA Change: Q569P

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: 98.5%
10x: 96.9%
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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	C	19: 21,575,609 (GRCm39)		probably benign	Het
Apoh	G	A	11: 108,298,288 (GRCm39)	R196Q	probably benign	Het
Arnt	C	T	3: 95,355,704 (GRCm39)	S16L	possibly damaging	Het
B4galnt4	T	C	7: 140,644,761 (GRCm39)	F194L	probably benign	Het
BC034090	A	T	1: 155,100,972 (GRCm39)	L431M	possibly damaging	Het
Bdh2	G	T	3: 134,994,040 (GRCm39)	A31S	probably damaging	Het
Brd10	C	T	19: 29,694,075 (GRCm39)	S1873N	possibly damaging	Het
Cacna1s	T	C	1: 136,046,833 (GRCm39)	S1821P	probably benign	Het
Caskin1	A	T	17: 24,725,824 (GRCm39)	Q1370L	possibly damaging	Het
Ccdc83	T	A	7: 89,893,362 (GRCm39)	S132C	probably damaging	Het
Cdk15	A	T	1: 59,370,110 (GRCm39)	H384L	probably damaging	Het
Col24a1	T	C	3: 145,020,691 (GRCm39)	I354T	probably benign	Het
Coro7	T	C	16: 4,451,620 (GRCm39)	I451V	probably benign	Het
Ctnna2	T	C	6: 77,735,483 (GRCm39)	E65G	probably damaging	Het
Ctsll3	A	T	13: 60,948,162 (GRCm39)	W172R	probably benign	Het
D630045J12Rik	T	C	6: 38,145,078 (GRCm39)	D1316G	probably damaging	Het
Ddx19b	C	T	8: 111,734,890 (GRCm39)	A493T	probably benign	Het
Ddx4	C	T	13: 112,736,547 (GRCm39)	V608I	probably damaging	Het
Ddx4	T	A	13: 112,757,276 (GRCm39)	H348L	probably damaging	Het
Dnah17	G	C	11: 117,995,361 (GRCm39)	Q996E	probably benign	Het
Dnah9	G	C	11: 65,739,197 (GRCm39)	N4180K	probably damaging	Het
Dok7	A	G	5: 35,234,610 (GRCm39)		probably null	Het
Dpf3	T	A	12: 83,371,809 (GRCm39)		probably null	Het
Efcab3	A	G	11: 104,637,090 (GRCm39)	I988M	probably damaging	Het
Elfn1	G	C	5: 139,958,604 (GRCm39)	R536P	probably damaging	Het
Eml6	A	G	11: 29,783,075 (GRCm39)	V602A	probably benign	Het
Enpp2	T	C	15: 54,746,378 (GRCm39)	D296G	probably damaging	Het
Evi5	A	T	5: 107,896,230 (GRCm39)	F738I	probably benign	Het
Eya2	T	C	2: 165,558,039 (GRCm39)	S212P	probably benign	Het
Fam83a	T	C	15: 57,849,498 (GRCm39)	L14P	probably damaging	Het
Fanca	A	T	8: 124,014,803 (GRCm39)	M735K	probably benign	Het
Fancm	T	A	12: 65,148,466 (GRCm39)	S694T	probably benign	Het
Fibcd1	G	A	2: 31,706,673 (GRCm39)	T386I	probably damaging	Het
Foxd4	A	G	19: 24,877,178 (GRCm39)	S341P	probably benign	Het
Foxp4	C	T	17: 48,186,796 (GRCm39)	R378Q	unknown	Het
Fryl	A	T	5: 73,255,609 (GRCm39)	S807R	probably benign	Het
Fscb	T	C	12: 64,520,008 (GRCm39)	E486G	unknown	Het
Galnt17	A	G	5: 131,179,782 (GRCm39)	S122P	probably benign	Het
Ghitm	A	G	14: 36,853,586 (GRCm39)	F85L	probably benign	Het
Ghrh	C	A	2: 157,175,386 (GRCm39)	V32L	probably benign	Het
Gli2	C	T	1: 118,765,430 (GRCm39)	R907H	probably benign	Het
Gm28042	A	G	2: 119,872,096 (GRCm39)	*1015W	probably null	Het
Gpr179	T	C	11: 97,228,784 (GRCm39)	T1124A	probably benign	Het
Grid2	C	A	6: 63,885,902 (GRCm39)	C99*	probably null	Het
Grin1	A	T	2: 25,187,927 (GRCm39)	M523K	probably benign	Het
Gucy2g	T	C	19: 55,211,328 (GRCm39)	Y634C	possibly damaging	Het
Gucy2g	T	G	19: 55,221,485 (GRCm39)	T339P	probably benign	Het
Haus6	A	T	4: 86,522,483 (GRCm39)	L116H	probably damaging	Het
Hey1	T	C	3: 8,731,879 (GRCm39)	T18A	probably benign	Het
Hipk3	T	C	2: 104,264,186 (GRCm39)	N792D	probably damaging	Het
Il19	A	T	1: 130,866,893 (GRCm39)	L29Q	probably damaging	Het
Il21r	A	G	7: 125,228,144 (GRCm39)	Q205R	probably damaging	Het
Kcnip2	T	C	19: 45,782,122 (GRCm39)	D169G	probably null	Het
Kctd18	T	C	1: 58,006,779 (GRCm39)	I24V	probably benign	Het
Lcp1	T	C	14: 75,437,946 (GRCm39)	S119P	probably damaging	Het
Lig3	G	C	11: 82,686,544 (GRCm39)	D642H	probably benign	Het
Lrba	A	G	3: 86,515,696 (GRCm39)	K2166E	probably damaging	Het
Lrrn2	T	C	1: 132,866,972 (GRCm39)	V679A	probably benign	Het
Lyst	G	A	13: 13,904,929 (GRCm39)	R3202H	probably damaging	Het
Micall2	A	G	5: 139,721,885 (GRCm39)	C11R	probably damaging	Het
Mtrf1	A	G	14: 79,639,111 (GRCm39)	E81G	probably damaging	Het
Myh2	G	T	11: 67,080,004 (GRCm39)	S1099I	possibly damaging	Het
Nap1l1	T	A	10: 111,326,914 (GRCm39)	D158E	probably benign	Het
Nckap5l	T	A	15: 99,320,699 (GRCm39)	T1285S	probably damaging	Het
Nsrp1	A	T	11: 76,936,612 (GRCm39)	M528K	probably damaging	Het
Numa1	C	T	7: 101,658,529 (GRCm39)	A1605V	probably damaging	Het
Nutm2	T	C	13: 50,627,878 (GRCm39)	L453P	probably damaging	Het
Ofd1	T	C	X: 165,210,210 (GRCm39)	Y205C	probably benign	Het
Or2ag12	T	A	7: 106,276,877 (GRCm39)	N272I	probably damaging	Het
Or2n1c	A	G	17: 38,519,355 (GRCm39)	Y73C	probably damaging	Het
Or4c125	T	A	2: 89,170,640 (GRCm39)	N2I	probably damaging	Het
Or52k2	A	T	7: 102,253,777 (GRCm39)	D72V	probably damaging	Het
Or7a40	T	A	16: 16,491,447 (GRCm39)	M133L	probably benign	Het
Patl1	T	C	19: 11,898,782 (GRCm39)	L159P	probably benign	Het
Paxip1	G	A	5: 27,949,134 (GRCm39)	T1045I	probably damaging	Het
Phaf1	T	A	8: 105,973,132 (GRCm39)	D247E	possibly damaging	Het
Pik3ca	A	G	3: 32,505,903 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,451,747 (GRCm39)	I2183F	probably damaging	Het
Plec	C	T	15: 76,073,372 (GRCm39)	R319H	probably damaging	Het
Pnkd	G	A	1: 74,391,008 (GRCm39)	G334D	probably damaging	Het
Prss50	A	G	9: 110,691,449 (GRCm39)	Y251C	probably damaging	Het
Rab11b	A	T	17: 33,979,209 (GRCm39)	Y10N	probably damaging	Het
Rfc1	G	A	5: 65,476,867 (GRCm39)	R4W	probably damaging	Het
Rgs19	A	T	2: 181,331,276 (GRCm39)	F119Y	probably damaging	Het
Safb	A	G	17: 56,912,821 (GRCm39)	H883R	probably benign	Het
Serpine1	G	A	5: 137,096,601 (GRCm39)	Q227*	probably null	Het
Slc25a13	A	G	6: 6,096,668 (GRCm39)		probably null	Het
Slc6a18	T	A	13: 73,812,308 (GRCm39)	T502S	possibly damaging	Het
Sox4	T	C	13: 29,136,631 (GRCm39)	D125G	probably damaging	Het
Spata31d1e	T	C	13: 59,890,599 (GRCm39)	D407G	probably damaging	Het
Stag3	C	T	5: 138,298,400 (GRCm39)	T731I	probably damaging	Het
Thada	G	T	17: 84,617,470 (GRCm39)	P1349T	probably damaging	Het
Tmem245	C	A	4: 56,937,964 (GRCm39)	V195F	probably benign	Het
Tnxb	A	G	17: 34,898,055 (GRCm39)	H901R	probably benign	Het
Trim39	A	T	17: 36,579,645 (GRCm39)	D103E	probably benign	Het
Ttn	A	T	2: 76,562,304 (GRCm39)	V28847E	probably damaging	Het
Tubb1	A	T	2: 174,297,484 (GRCm39)	D31V	possibly damaging	Het
Ush1g	A	G	11: 115,209,280 (GRCm39)	S305P	probably damaging	Het
Vmn1r191	A	T	13: 22,362,952 (GRCm39)	N267K	possibly damaging	Het
Vmn1r59	A	T	7: 5,457,038 (GRCm39)	Y241N	probably damaging	Het
Vmn2r49	T	C	7: 9,720,235 (GRCm39)	N419D	probably damaging	Het
Vps35	T	C	8: 86,005,623 (GRCm39)	D326G	possibly damaging	Het
Xdh	A	G	17: 74,199,746 (GRCm39)	S1187P	possibly damaging	Het
Xpc	A	C	6: 91,478,007 (GRCm39)		probably null	Het
Zfp273	T	C	13: 67,973,282 (GRCm39)	Y104H	probably 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
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

Predicted Primers

PCR Primer
(F):5'- AAGACCTTTGGAGCTGTCTG -3'
(R):5'- CCCTTCCAGTTAAGTGCTGTAG -3'

Sequencing Primer
(F):5'- TCTGAATGGAGCATGCCTGGAC -3'
(R):5'- TGCTGTAGAAGAAGGTTACCCCATC -3'

Posted On

2014-08-25