Mutagenetix > Incidental Mutation

Incidental Mutation 'R9042:Prrc1'

687806

Institutional Source

Beutler Lab

Gene Symbol

Prrc1

Ensembl Gene

ENSMUSG00000024594

Gene Name

proline-rich coiled-coil 1

Synonyms

3110038B19Rik, 2310058D16Rik, 9430085A19Rik, 1190002C06Rik

MMRRC Submission

068869-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R9042 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57487813-57526028 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 57507764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025490 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025490]

AlphaFold

Q3UPH1

Predicted Effect

probably null
Transcript: ENSMUST00000025490

SMART Domains

Protein: ENSMUSP00000025490
Gene: ENSMUSG00000024594

Domain	Start	End	E-Value	Type
low complexity region	57	71	N/A	INTRINSIC
low complexity region	79	96	N/A	INTRINSIC
low complexity region	109	134	N/A	INTRINSIC
Pfam:NTPase_I-T	261	380	4.3e-13	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	G	15: 11,152,134 (GRCm39)	K208R	probably benign	Het
Amh	T	C	10: 80,642,443 (GRCm39)	M242T	possibly damaging	Het
Anpep	T	C	7: 79,488,510 (GRCm39)	Y440C	probably damaging	Het
Atf7ip	G	T	6: 136,538,263 (GRCm39)	E499*	probably null	Het
Clasp2	A	G	9: 113,735,065 (GRCm39)	I967V	probably benign	Het
Cpa6	T	C	1: 10,407,515 (GRCm39)	T341A	probably benign	Het
Cyp26b1	T	A	6: 84,553,590 (GRCm39)	Y263F	probably benign	Het
Ecm2	C	A	13: 49,682,439 (GRCm39)	Y489*	probably null	Het
Gpr22	C	A	12: 31,759,853 (GRCm39)	V90L	probably benign	Het
Grip1	G	A	10: 119,836,438 (GRCm39)	V516M	probably benign	Het
Ipo5	C	T	14: 121,160,547 (GRCm39)	S188L	probably benign	Het
Kcnh6	T	A	11: 105,908,464 (GRCm39)	I360N	possibly damaging	Het
Lrp1b	C	A	2: 41,392,029 (GRCm39)	D512Y		Het
Lrpprc	C	T	17: 85,059,736 (GRCm39)		probably null	Het
Lta4h	A	G	10: 93,318,850 (GRCm39)	K547R	probably benign	Het
Nacad	G	C	11: 6,548,948 (GRCm39)	P1340R	possibly damaging	Het
Ncapd2	T	C	6: 125,156,301 (GRCm39)	K495E	probably benign	Het
Ndufaf7	A	T	17: 79,245,968 (GRCm39)		probably null	Het
Nsrp1	A	G	11: 76,941,477 (GRCm39)	V77A	probably benign	Het
Or1f19	A	T	16: 3,411,132 (GRCm39)	S291C	probably damaging	Het
Or8k3b	T	C	2: 86,521,139 (GRCm39)	Y60C	probably damaging	Het
P2ry12	A	G	3: 59,125,456 (GRCm39)	V73A	probably damaging	Het
Pafah1b1	G	A	11: 74,574,493 (GRCm39)	T231I	probably benign	Het
Parp11	C	A	6: 127,448,615 (GRCm39)	Y77*	probably null	Het
Phc3	T	A	3: 30,983,916 (GRCm39)	T712S	unknown	Het
Pkm	T	A	9: 59,579,220 (GRCm39)	I335N	probably damaging	Het
Pmpca	A	G	2: 26,283,581 (GRCm39)	T417A	probably benign	Het
Pot1b	C	T	17: 56,006,991 (GRCm39)		probably null	Het
Psg18	A	T	7: 18,083,047 (GRCm39)	N369K	probably benign	Het
Pum3	T	A	19: 27,399,791 (GRCm39)	Y214F	probably damaging	Het
Reln	G	A	5: 22,253,036 (GRCm39)	T637M	probably damaging	Het
Rpe65	A	T	3: 159,321,292 (GRCm39)	Y368F	probably damaging	Het
Serpina3a	A	G	12: 104,082,362 (GRCm39)	D45G	probably benign	Het
Serpinb3c	T	A	1: 107,199,731 (GRCm39)	L263F	probably damaging	Het
Slc25a23	C	T	17: 57,352,553 (GRCm39)	V444I	probably damaging	Het
Slc40a1	C	T	1: 45,948,621 (GRCm39)	G553D	probably benign	Het
Spata31e5	T	C	1: 28,816,037 (GRCm39)	Q665R	possibly damaging	Het
Spata31h1	A	G	10: 82,123,185 (GRCm39)	I3275T	probably benign	Het
Taf7	C	A	18: 37,776,223 (GRCm39)	D115Y	probably damaging	Het
Tanc1	G	C	2: 59,673,766 (GRCm39)	A1624P	probably benign	Het
Tmed4	T	C	11: 6,224,405 (GRCm39)	D85G	probably benign	Het
Tmed6	A	G	8: 107,790,385 (GRCm39)	V138A	probably benign	Het
Tmem63b	T	C	17: 45,977,517 (GRCm39)	T370A	probably benign	Het
Ttc38	A	G	15: 85,720,310 (GRCm39)	T91A	probably benign	Het
Ube4b	C	G	4: 149,444,833 (GRCm39)	A476P	probably benign	Het
Vmn2r53	A	G	7: 12,315,435 (GRCm39)	C795R	probably benign	Het

Other mutations in Prrc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02527:Prrc1	APN	18	57,522,419 (GRCm39)	missense	probably benign	0.37
IGL03207:Prrc1	APN	18	57,522,389 (GRCm39)	missense	probably benign	0.19
R0226:Prrc1	UTSW	18	57,496,363 (GRCm39)	missense	probably benign
R0375:Prrc1	UTSW	18	57,495,564 (GRCm39)	missense	probably damaging	1.00
R0470:Prrc1	UTSW	18	57,496,469 (GRCm39)	missense	probably damaging	1.00
R0540:Prrc1	UTSW	18	57,507,622 (GRCm39)	missense	possibly damaging	0.50
R0607:Prrc1	UTSW	18	57,507,622 (GRCm39)	missense	possibly damaging	0.50
R1929:Prrc1	UTSW	18	57,514,718 (GRCm39)	missense	probably damaging	0.98
R2266:Prrc1	UTSW	18	57,514,718 (GRCm39)	missense	probably damaging	0.98
R2268:Prrc1	UTSW	18	57,514,718 (GRCm39)	missense	probably damaging	0.98
R2269:Prrc1	UTSW	18	57,514,718 (GRCm39)	missense	probably damaging	0.98
R2272:Prrc1	UTSW	18	57,514,718 (GRCm39)	missense	probably damaging	0.98
R4758:Prrc1	UTSW	18	57,517,320 (GRCm39)	missense	probably damaging	1.00
R4896:Prrc1	UTSW	18	57,507,626 (GRCm39)	missense	probably damaging	1.00
R4965:Prrc1	UTSW	18	57,507,622 (GRCm39)	missense	possibly damaging	0.50
R6395:Prrc1	UTSW	18	57,495,619 (GRCm39)	missense	probably null
R6534:Prrc1	UTSW	18	57,522,346 (GRCm39)	missense	probably damaging	0.99
R7514:Prrc1	UTSW	18	57,496,325 (GRCm39)	missense	probably benign	0.43
R8354:Prrc1	UTSW	18	57,504,503 (GRCm39)	missense	probably damaging	1.00
R8737:Prrc1	UTSW	18	57,496,408 (GRCm39)	missense	possibly damaging	0.67
R9243:Prrc1	UTSW	18	57,496,271 (GRCm39)	missense	possibly damaging	0.75
R9246:Prrc1	UTSW	18	57,496,208 (GRCm39)	missense	probably benign	0.01
R9352:Prrc1	UTSW	18	57,522,317 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTAATAGAATCTGGAGGTGAACTGG -3'
(R):5'- AGAGAGTATGTGTGCACGTTCATG -3'

Sequencing Primer
(F):5'- GTGAACTGGATATTGTCGTAACCTC -3'
(R):5'- AACGTGACTGCTTTCCTGATGAG -3'

Posted On

2021-11-19