Mutagenetix > Incidental Mutation

Incidental Mutation 'R2373:Rc3h2'

248194

Institutional Source

Beutler Lab

Gene Symbol

Rc3h2

Ensembl Gene

ENSMUSG00000075376

Gene Name

ring finger and CCCH-type zinc finger domains 2

Synonyms

D930043C02Rik, Mnab, 2900024N03Rik, Rnf164, 9430019J22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2373 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37260081-37312915 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37269013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 818 (S818P)

Ref Sequence

ENSEMBL: ENSMUSP00000108558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100143] [ENSMUST00000112934] [ENSMUST00000112936] [ENSMUST00000125619]

AlphaFold

P0C090

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100143
AA Change: S818P

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097721
Gene: ENSMUSG00000075376
AA Change: S818P

Domain	Start	End	E-Value	Type
RING	14	53	2.87e-5	SMART
low complexity region	198	209	N/A	INTRINSIC
ZnF_C3H1	410	437	1.58e-3	SMART
low complexity region	609	633	N/A	INTRINSIC
low complexity region	668	688	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112934
AA Change: S818P

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108556
Gene: ENSMUSG00000075376
AA Change: S818P

Domain	Start	End	E-Value	Type
RING	14	53	2.87e-5	SMART
low complexity region	198	209	N/A	INTRINSIC
ZnF_C3H1	410	437	1.58e-3	SMART
low complexity region	609	633	N/A	INTRINSIC
low complexity region	668	688	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112936
AA Change: S818P

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108558
Gene: ENSMUSG00000075376
AA Change: S818P

Domain	Start	End	E-Value	Type
RING	14	53	2.87e-5	SMART
low complexity region	198	209	N/A	INTRINSIC
ZnF_C3H1	410	437	1.58e-3	SMART
low complexity region	609	633	N/A	INTRINSIC
low complexity region	668	688	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125619

SMART Domains

Protein: ENSMUSP00000145082
Gene: ENSMUSG00000075376

Domain	Start	End	E-Value	Type
RING	14	53	1.4e-7	SMART
low complexity region	198	209	N/A	INTRINSIC
ZnF_C3H1	410	437	6.9e-6	SMART
low complexity region	455	466	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143826

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204959

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for a knock-out allele are viable and healthy but show increased TNF production by macrophages in response to LPS. Homozygotes for a different knock-out allele show postnatal lethality, decreased body size and weight, and an immature lung phenotype with decreased alveolar expansion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
9130023H24Rik	A	T	7: 127,836,487 (GRCm39)	D35E	probably benign	Het
9330159F19Rik	A	G	10: 29,101,039 (GRCm39)	N471D	probably benign	Het
Ahctf1	A	T	1: 179,623,361 (GRCm39)	F86I	probably damaging	Het
Alpk1	T	C	3: 127,473,457 (GRCm39)	T849A	probably benign	Het
Arfgef1	A	T	1: 10,244,367 (GRCm39)	D965E	probably damaging	Het
Asxl1	A	G	2: 153,243,820 (GRCm39)	T1458A	probably benign	Het
Cdc42bpa	A	T	1: 179,939,349 (GRCm39)	M876L	possibly damaging	Het
Celsr3	G	A	9: 108,719,751 (GRCm39)	R2450H	probably benign	Het
Col12a1	A	T	9: 79,564,095 (GRCm39)	V1710E	probably benign	Het
Corin	G	A	5: 72,496,381 (GRCm39)	S524L	probably damaging	Het
Dennd2c	A	G	3: 103,064,158 (GRCm39)	H658R	probably damaging	Het
Disp3	A	G	4: 148,343,252 (GRCm39)	V553A	probably damaging	Het
Dpm2	T	C	2: 32,462,457 (GRCm39)	F81S	probably benign	Het
Emc2	T	A	15: 43,377,154 (GRCm39)	I239N	probably damaging	Het
Fhip1a	C	T	3: 85,583,404 (GRCm39)	W464*	probably null	Het
Fzd5	C	T	1: 64,774,066 (GRCm39)	G565D	probably damaging	Het
Gpld1	T	C	13: 25,146,839 (GRCm39)	F267S	probably benign	Het
Kif14	C	A	1: 136,407,583 (GRCm39)	A46E	probably damaging	Het
Mta3	G	T	17: 84,091,730 (GRCm39)	E179*	probably null	Het
Ninl	T	G	2: 150,822,037 (GRCm39)	T22P	probably damaging	Het
Pcnx2	T	C	8: 126,480,190 (GRCm39)	N2039S	probably damaging	Het
Scn11a	T	A	9: 119,642,252 (GRCm39)	E162D	probably benign	Het
Slc5a7	A	T	17: 54,584,154 (GRCm39)	W379R	probably damaging	Het
Sptb	C	T	12: 76,667,935 (GRCm39)	V721M	probably damaging	Het
Vmn1r82	T	A	7: 12,038,982 (GRCm39)	V85E	probably damaging	Het
Vmn2r130	T	C	17: 23,280,480 (GRCm39)	I47T	possibly damaging	Het
Vmn2r93	T	A	17: 18,518,665 (GRCm39)	F41L	probably benign	Het

Other mutations in Rc3h2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Rc3h2	APN	2	37,279,759 (GRCm39)	missense	possibly damaging	0.59
IGL00944:Rc3h2	APN	2	37,288,250 (GRCm39)	splice site	probably benign
IGL01065:Rc3h2	APN	2	37,267,856 (GRCm39)	splice site	probably benign
IGL01966:Rc3h2	APN	2	37,272,789 (GRCm39)	splice site	probably benign
IGL02123:Rc3h2	APN	2	37,288,265 (GRCm39)	missense	probably damaging	1.00
IGL02174:Rc3h2	APN	2	37,301,237 (GRCm39)	missense	probably benign	0.11
IGL02448:Rc3h2	APN	2	37,279,817 (GRCm39)	missense	probably benign	0.08
IGL02539:Rc3h2	APN	2	37,279,727 (GRCm39)	missense	probably benign	0.09
IGL02698:Rc3h2	APN	2	37,295,312 (GRCm39)	missense	probably damaging	0.99
IGL02731:Rc3h2	APN	2	37,272,823 (GRCm39)	missense	probably benign	0.00
IGL02958:Rc3h2	APN	2	37,304,712 (GRCm39)	missense	probably damaging	1.00
IGL02959:Rc3h2	APN	2	37,295,366 (GRCm39)	missense	probably damaging	1.00
PIT4468001:Rc3h2	UTSW	2	37,289,651 (GRCm39)	missense	probably damaging	1.00
R0309:Rc3h2	UTSW	2	37,269,020 (GRCm39)	splice site	probably benign
R0488:Rc3h2	UTSW	2	37,279,600 (GRCm39)	missense	probably damaging	0.99
R0506:Rc3h2	UTSW	2	37,266,671 (GRCm39)	critical splice donor site	probably null
R0612:Rc3h2	UTSW	2	37,301,227 (GRCm39)	missense	possibly damaging	0.77
R0628:Rc3h2	UTSW	2	37,272,064 (GRCm39)	splice site	probably benign
R0647:Rc3h2	UTSW	2	37,299,542 (GRCm39)	missense	probably damaging	1.00
R0680:Rc3h2	UTSW	2	37,289,847 (GRCm39)	missense	probably damaging	0.97
R0738:Rc3h2	UTSW	2	37,295,386 (GRCm39)	missense	probably damaging	1.00
R2005:Rc3h2	UTSW	2	37,279,765 (GRCm39)	nonsense	probably null
R2105:Rc3h2	UTSW	2	37,289,636 (GRCm39)	missense	possibly damaging	0.89
R2133:Rc3h2	UTSW	2	37,268,928 (GRCm39)	missense	probably benign	0.12
R2414:Rc3h2	UTSW	2	37,289,831 (GRCm39)	critical splice donor site	probably null
R2850:Rc3h2	UTSW	2	37,267,427 (GRCm39)	missense	probably benign
R2913:Rc3h2	UTSW	2	37,268,971 (GRCm39)	missense	possibly damaging	0.89
R2932:Rc3h2	UTSW	2	37,268,371 (GRCm39)	missense	probably benign	0.10
R4441:Rc3h2	UTSW	2	37,304,526 (GRCm39)	critical splice donor site	probably null
R4932:Rc3h2	UTSW	2	37,279,844 (GRCm39)	missense	possibly damaging	0.77
R5114:Rc3h2	UTSW	2	37,288,373 (GRCm39)	splice site	probably null
R5169:Rc3h2	UTSW	2	37,295,324 (GRCm39)	missense	probably damaging	1.00
R5360:Rc3h2	UTSW	2	37,279,867 (GRCm39)	missense	possibly damaging	0.59
R5477:Rc3h2	UTSW	2	37,289,642 (GRCm39)	missense	possibly damaging	0.94
R5553:Rc3h2	UTSW	2	37,288,323 (GRCm39)	nonsense	probably null
R5776:Rc3h2	UTSW	2	37,268,325 (GRCm39)	missense	possibly damaging	0.59
R5842:Rc3h2	UTSW	2	37,268,383 (GRCm39)	missense	possibly damaging	0.77
R5935:Rc3h2	UTSW	2	37,304,745 (GRCm39)	frame shift	probably null
R6060:Rc3h2	UTSW	2	37,289,612 (GRCm39)	missense	possibly damaging	0.77
R6112:Rc3h2	UTSW	2	37,268,899 (GRCm39)	missense	possibly damaging	0.59
R6172:Rc3h2	UTSW	2	37,304,745 (GRCm39)	frame shift	probably null
R6173:Rc3h2	UTSW	2	37,304,745 (GRCm39)	frame shift	probably null
R6177:Rc3h2	UTSW	2	37,279,658 (GRCm39)	missense	probably benign	0.02
R6455:Rc3h2	UTSW	2	37,299,482 (GRCm39)	missense	probably damaging	1.00
R6457:Rc3h2	UTSW	2	37,301,151 (GRCm39)	critical splice donor site	probably null
R6467:Rc3h2	UTSW	2	37,272,028 (GRCm39)	missense	probably damaging	0.97
R6647:Rc3h2	UTSW	2	37,272,956 (GRCm39)	nonsense	probably null
R6694:Rc3h2	UTSW	2	37,290,555 (GRCm39)	missense	probably damaging	1.00
R6695:Rc3h2	UTSW	2	37,304,673 (GRCm39)	missense	possibly damaging	0.88
R7054:Rc3h2	UTSW	2	37,265,258 (GRCm39)	missense	probably benign	0.07
R7159:Rc3h2	UTSW	2	37,299,659 (GRCm39)	missense	probably benign	0.39
R7162:Rc3h2	UTSW	2	37,299,617 (GRCm39)	missense	possibly damaging	0.59
R7640:Rc3h2	UTSW	2	37,267,861 (GRCm39)	critical splice donor site	probably null
R7676:Rc3h2	UTSW	2	37,295,344 (GRCm39)	missense	possibly damaging	0.95
R8209:Rc3h2	UTSW	2	37,267,001 (GRCm39)	missense	possibly damaging	0.77
R8226:Rc3h2	UTSW	2	37,267,001 (GRCm39)	missense	possibly damaging	0.77
R8324:Rc3h2	UTSW	2	37,290,738 (GRCm39)	missense	possibly damaging	0.77
R8528:Rc3h2	UTSW	2	37,272,811 (GRCm39)	missense	probably benign	0.05
R8836:Rc3h2	UTSW	2	37,267,941 (GRCm39)	missense	possibly damaging	0.59
R8957:Rc3h2	UTSW	2	37,289,660 (GRCm39)	missense	possibly damaging	0.59
R9053:Rc3h2	UTSW	2	37,289,628 (GRCm39)	missense	possibly damaging	0.95
R9131:Rc3h2	UTSW	2	37,304,702 (GRCm39)	missense	possibly damaging	0.94
R9178:Rc3h2	UTSW	2	37,295,264 (GRCm39)	missense	possibly damaging	0.77
R9437:Rc3h2	UTSW	2	37,272,841 (GRCm39)	missense	possibly damaging	0.94
X0013:Rc3h2	UTSW	2	37,279,798 (GRCm39)	missense	possibly damaging	0.60
Z1187:Rc3h2	UTSW	2	37,289,612 (GRCm39)	missense	possibly damaging	0.77
Z1188:Rc3h2	UTSW	2	37,289,612 (GRCm39)	missense	possibly damaging	0.77
Z1189:Rc3h2	UTSW	2	37,299,568 (GRCm39)	missense	possibly damaging	0.94
Z1192:Rc3h2	UTSW	2	37,299,568 (GRCm39)	missense	possibly damaging	0.94
Z1192:Rc3h2	UTSW	2	37,289,612 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- GATACCAACATTATCTTCCCTACCT -3'
(R):5'- TGGATATTATTGCTTAGAGCTGATTTC -3'

Sequencing Primer
(F):5'- AACATTATCTTCCCTACCTCCACCAC -3'
(R):5'- AGTTGACCTTGAACTCCATGC -3'

Posted On

2014-11-11